CHEK2 - checkpoint kinase 2 Gene

Also Known as CDS1; CHK2; LFS2; RAD53; hCds1; HuCds1; PP1425

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11200

About CHEK2

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:28,687,743-28,741,834 (from NCBI)

This gene has 25 transcripts (splice variants), 206 orthologues and is associated with 124 phenotypes. Ubiquitous expression in bone marrow (RPKM 3.3), lymph node (RPKM 3.1) and 24 other tissues.

Summary

In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C Phosphatase, preventing entry into Mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial Cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast Cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

CHEK2 Products (24)

mRNA Protein Name
XM_006724114.4 XP_006724177.3 serine/threonine-protein kinase Chk2 isoform X12
XM_047441105.1 XP_047297061.1 serine/threonine-protein kinase Chk2 isoform X5
XM_017028560.2 XP_016884049.1 serine/threonine-protein kinase Chk2 isoform X2
XM_011529845.3 XP_011528147.1 serine/threonine-protein kinase Chk2 isoform X15
XM_011529840.4 XP_011528142.1 serine/threonine-protein kinase Chk2 isoform X4
NM_001257387.2 NP_001244316.1 serine/threonine-protein kinase Chk2 isoform d
XM_011529842.3 XP_011528144.1 serine/threonine-protein kinase Chk2 isoform X10
XM_024452148.2 XP_024307916.1 serine/threonine-protein kinase Chk2 isoform X6
XR_937807.3
XR_007067954.1
NM_001005735.2 NP_001005735.1 serine/threonine-protein kinase Chk2 isoform c
XR_007067955.1
XM_006724116.3 XP_006724179.2 serine/threonine-protein kinase Chk2 isoform X14
XM_047441108.1 XP_047297064.1 serine/threonine-protein kinase Chk2 isoform X13
XM_047441104.1 XP_047297060.1 serine/threonine-protein kinase Chk2 isoform X3
NM_001349956.2 NP_001336885.1 serine/threonine-protein kinase Chk2 isoform e
XM_011529839.3 XP_011528141.1 serine/threonine-protein kinase Chk2 isoform X1
XR_937806.3
XM_047441106.1 XP_047297062.1 serine/threonine-protein kinase Chk2 isoform X7
XM_047441107.1 XP_047297063.1 serine/threonine-protein kinase Chk2 isoform X8
XM_024452149.2 XP_024307917.1 serine/threonine-protein kinase Chk2 isoform X9
NM_007194.4 NP_009125.1 serine/threonine-protein kinase Chk2 isoform a
XM_011529844.3 XP_011528146.1 serine/threonine-protein kinase Chk2 isoform X11
NM_145862.2 NP_665861.1 serine/threonine-protein kinase Chk2 isoform b
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
16794575 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11298456 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
16794575 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
16481012 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
12717439 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
22266820 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within DNA damage response IDA
IDA: Inferred from direct assay
24550317 GOA
involved in DNA damage response IMP
IMP: Inferred from mutant phenotype
16481012 GOA
involved in G2/M transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
16481012 GOA
involved in cellular response to stress IDA
IDA: Inferred from direct assay
37943659 GOA
involved in double-strand break repair IMP
IMP: Inferred from mutant phenotype
18317453 GOA
involved in intrinsic apoptotic signaling pathway in response to DNA damage IDA
IDA: Inferred from direct assay
12402044 GOA
involved in intrinsic apoptotic signaling pathway in response to DNA damage IMP
IMP: Inferred from mutant phenotype
12717439 GOA
involved in mitotic intra-S DNA damage checkpoint signaling IMP
IMP: Inferred from mutant phenotype
11298456 GOA
involved in mitotic spindle assembly IMP
IMP: Inferred from mutant phenotype
20364141 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
17101782 GOA
involved in protein autophosphorylation IDA
IDA: Inferred from direct assay
16794575 GOA
involved in protein catabolic process IMP
IMP: Inferred from mutant phenotype
11298456 GOA
involved in protein phosphorylation IDA
IDA: Inferred from direct assay
12717439 GOA
involved in protein stabilization IDA
IDA: Inferred from direct assay
12717439 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12717439 GOA
involved in regulation of autophagosome assembly IDA
IDA: Inferred from direct assay
37943659 GOA
involved in regulation of protein catabolic process IMP
IMP: Inferred from mutant phenotype
17101782 GOA
acts upstream of or within signal transduction in response to DNA damage IDA
IDA: Inferred from direct assay
14744935 GOA
involved in signal transduction in response to DNA damage IMP
IMP: Inferred from mutant phenotype
11298456 GOA
Cellular Component GO Annotation Evidence References Source
located in PML body IDA
IDA: Inferred from direct assay
12402044 GOA
colocalizes with chromosome, telomeric region IDA
IDA: Inferred from direct assay
15149599 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHEK2 Protein Structure

FHA

FHA: FHA domain (113 - 191)

Pkinase

Pkinase: Protein kinase domain (222 - 486)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 543 a.a.
Protein Preferred Names Protein Names

serine/threonine-protein kinase Chk2

  • CHK2 checkpoint homolog

  • cds1 homolog

  • checkpoint-like protein CHK2

CHEK2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CHEK2 O96017 MDM2 Homo sapiens Q00987 15862297
Intra
CHEK2 O96017 KPNA2 Homo sapiens P52292
TAP
23178491
Intra
CHEK2 O96017 CHEK2 Homo sapiens O96017 18239682
Intra
CHEK2 O96017 KPNA2 Homo sapiens P52292 12909615
Intra
CHEK2 O96017 CHEK2 Homo sapiens O96017 16794575
Intra
CHEK2 O96017 PPP2R5A Homo sapiens Q15172
Y2H
15380617
Intra
CHEK2 O96017 PPP2R5A Homo sapiens Q15172 15380617
Intra
CHEK2 O96017 CHEK2 Homo sapiens O96017 16794575
Intra
CHEK2 O96017 PLK1 Homo sapiens P53350 12493754
Intra
CHEK2 O96017 MDM2 Homo sapiens Q00987 15862297
Intra
CHEK2 O96017 CHEK2 Homo sapiens O96017 18239682
Intra
CHEK2 O96017 KPNA2 Homo sapiens P52292 12909615
Intra
CHEK2 O96017 MDM2 Homo sapiens Q00987 15862297
Intra
CHEK2 O96017 KPNA2 Homo sapiens P52292 12909615
Intra
CHEK2 O96017 PPP2R5C Homo sapiens Q13362-1 15380617
Intra
CHEK2 O96017 PPP2R5C Homo sapiens Q13362-2
Y2H
15380617
Intra
CHEK2 O96017 PPP2R5C Homo sapiens Q13362-3 15380617
Intra
CHEK2 O96017 PPP2R5C Homo sapiens Q13362-3
Y2H
15380617
Intra
CHEK2 O96017 PPP2R5C Homo sapiens Q13362-3 15380617
Intra
CHEK2 O96017 PPP2R5B Homo sapiens Q15173
Y2H
15380617
Intra
CHEK2 O96017 RNF20 Homo sapiens Q5VTR2 25640309
Intra
CHEK2 O96017 RNF20 Homo sapiens Q5VTR2 25640309
Cross
CHEK2 O96017 P0C6X7-PRO_0000037319 Human SARS coronavirus P0C6X7-PRO_0000037319 22046132
Cross
CHEK2 O96017 P0C6X7-PRO_0000037319 Human SARS coronavirus P0C6X7-PRO_0000037319 22046132
Intra
CHEK2 O96017 USP7 Homo sapiens Q93009
TAP
23178491
Intra
CHEK2 O96017 VCP Homo sapiens P55072 17525332
Intra
CHEK2 O96017 VCP Homo sapiens P55072 17525332
Intra
CHEK2 O96017 AATF Homo sapiens Q9NY61 17157788
Intra
CHEK2 O96017 AATF Homo sapiens Q9NY61 17157788
Intra
CHEK2 O96017 IL24 Homo sapiens Q13007 25640309
Intra
CHEK2 O96017 IL24 Homo sapiens Q13007 25640309
Intra
CHEK2 O96017 RB1 Homo sapiens P06400 17380128
Intra
CHEK2 O96017 RB1 Homo sapiens P06400 17380128
Intra
CHEK2 O96017 PPM1G Homo sapiens O15355
TAP
23178491
Intra
CHEK2 O96017 GINS2 Homo sapiens Q9Y248 17525332
Intra
CHEK2 O96017 GINS2 Homo sapiens Q9Y248 17525332
Intra
CHEK2 O96017 LRATD2 Homo sapiens Q96KN1 25640309
Intra
CHEK2 O96017 LRATD2 Homo sapiens Q96KN1 25640309
Intra
CHEK2 O96017 XRCC1 Homo sapiens P18887 18971944
Intra
CHEK2 O96017 XRCC1 Homo sapiens P18887 18971944
Intra
CHEK2 O96017 XRCC1 Homo sapiens P18887 18971944
Intra
CHEK2 O96017 PPP2R5E Homo sapiens Q16537
Y2H
15380617
Cross
CHEK2 O96017 P27958-PRO_0000037577 Hepatitis C virus P27958-PRO_0000037577 18667510
Cross
CHEK2 O96017 P27958-PRO_0000037577 Hepatitis C virus P27958-PRO_0000037577 18667510
Cross
CHEK2 O96017 UL83 Human cytomegalovirus P06725 16477038
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CHEK2 Proteins

Cat. No. Product Name Accession Purity
HY-P75349 CHEK2 Protein, Human (Active, sf9, GST) O96017-1 (S2-L543) ≥ 90%, as determined by reducing SDS-PAGE.

CHEK2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80083 Chk2 Antibody (YA504) WB, ICC/IF, IHC-P, IP Human
HY-P80799 Phospho-Chk2 (Thr68) Antibody WB, ICC/IF, IHC-P Human, Mouse, Rat
HY-P83884 CHK2 Antibody (YA3581) WB, IHC-P, ICC/IF, ELISA Human
HY-P83884A CHK2 Antibody (YA3581)(PBS only) WB, IHC-P, ICC/IF, ELISA Human
HY-P86494 Chk2 Antibody (YA6186) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Transitional Cell Carcinoma
  • Transitional Cell Neoplasm

  • Carcinoma, Transitional Cell

  • Transitional Carcinoma

  • Transitional Cell Tumor

  • Urothelial Cell Carcinoma

  • Carcinoma Transitional Cell

  • Transitional Cell Carcinoma Of Bladder

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Carcinoma Of Pancreas

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Cancer Of The Pancreas

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Autosomal Recessive Cerebellar Ataxia
  • Arca

Basal Cell Carcinoma
  • Basal Cell Cancer

  • Basal Cell Neoplasm

  • Basal Cell Carcinoma Of Skin

  • Malignant Basal Cell Tumor

  • Basal Cell Tumor

  • Epithelioma Basal Cell

  • Malignant Basal Cell Neoplasm

  • Rodent Ulcer

  • Carcinoma Basal Cell

  • Neoplasms, Basal Cell

  • Basal Cell Carcinomas

  • Experimental Organism Basal Cell Carcinoma

  • Nodulo-Ulcerative Basal Cell Carcinoma

  • Basalioma

  • Basal Cell Epithelioma Of Skin

  • Bcc - [Basal Cell Carcinoma] Of Skin

  • Rodent Ulcer Of Skin

  • Rodent Ulcer Of Unspecified Site

  • Basal Cell Epithelioma Of Unspecified Site

Nk-Cell Enteropathy
Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Protection Against

  • Lung Cancer, Susceptibility To

  • Adenocarcinoma Of Lung, Somatic

  • Nonsmall Cell Lung Cancer

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Bone Osteosarcoma
  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone

Familial Ovarian Cancer
  • Familial Ovarian Carcinoma

  • Familial Ovarian Malignant Tumor

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Diffuse Midline Glioma, H3 K27m-Mutant
  • Diffuse Intrinsic Pontine Glioma

  • Dipg

  • Infiltrative Brainstem Glioma

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Wilms Tumor 5
  • Wilms Tumor

  • WT5

  • Wilms Tumor Susceptibility-5

  • Wilms Tumor And Radial Bilateral Aplasia

  • Nephroblastoma

  • Wilms' Tumor

  • Wilms Tumor, Susceptibility To

  • Wtsl

  • Bilateral Radial Aplasia With Wilms Tumor

  • Embryonal Adenosarcoma

  • Embryonal Nephroma

  • Kidney Wilms Tumor

  • Kidney, Adenomyosarcoma, Embryonal

  • Kidney, Carcinosarcoma, Embryonal

  • Kidney, Embryoma

  • Kidney, Embryonal Mixed Tumor

  • Nephroma

  • Renal Adenosarcoma

  • Renal Cancer, Wilms

  • Renal Wilms Tumor

  • Tumor, Wilms

  • Hereditary Susceptibility To Wilms Tumor 5

Sporadic Breast Cancer
  • Sporadic Breast Carcinoma

Adenoid Cystic Carcinoma
  • Adenocystic Carcinoma

  • Cribriform Carcinoma

  • Cylindroma

  • Carcinoma Adenoid Cystic

  • Carcinoma, Adenoid Cystic

  • Adenoid Cystic Carcinoma Of Salivary Gland

  • Eccrine Dermal Cylindroma

  • Carcinoma, Cribriform

Colonic Benign Neoplasm
  • Colon Neoplasm

  • Colonic Mass

  • Colonic Tumor

  • Neoplasm Of Colon

  • Neoplasm Of The Colon

  • Colonic Neoplasms

  • Colon Cancer

  • Colon Carcinoma Nos

  • Colonic Cancer

  • Metastatic Colon Cancer Nos

Osteogenic Sarcoma
  • Osteosarcoma

  • OSRC

  • Osteosarcoma, Somatic

  • Neoplasms, Bone Tissue

  • Bone Tissue Neoplasm

  • Osteoid Sarcoma

  • Skeletal Sarcoma

  • Osteosarcoma Of Bone

  • Bone Sarcoma

Squamous Cell Carcinoma
  • Epidermoid Carcinoma

  • Squamous Cell Cancer

  • Carcinoma, Squamous Cell

  • Malignant Squamous Cell Tumor

  • Squamous Carcinoma

  • Squamous Cell Epithelioma

  • Squamous Cell Skin Cancer

  • Carcinoma Squamous Cell

  • Neoplasms, Squamous Cell

  • Squamous Cell Carcinoma - Category

  • Malignant Squamous Cell Neoplasm

  • Squamous Cell Carcinoma Of Skin

Esophageal Cancer
  • Esophageal Carcinoma

  • Carcinoma Of Esophagus

  • Esophageal Squamous Cell Carcinoma, Somatic

  • Esophageal Carcinoma, Somatic

  • Esophagus Cancer

  • Gastric Cardia Adenocarcinoma

  • Esophageal Neoplasms

  • Esophageal Cancer, Somatic

  • Cancer Of Esophagus

  • Cancer Of Oesophagus

  • Carcinoma Of Oesophagus

  • Ca Lower Third Oesophagus

  • Ca Middle Third Oesophagus

  • Malignant Neoplasm Of Distal Third Of Esophagus

  • Malignant Neoplasm Of Lower Third Of Oesophagus

  • Malignant Neoplasm Of Middle Third Of Oesophagus

  • Malignant Neoplasm Of Proximal Third Of Esophagus

  • Malignant Neoplasm Of Upper Third Esophagus

  • Malignant Tumor Of Abdominal Esophagus

  • Malignant Tumor Of Distal Third Of Esophagus

  • Malignant Tumor Of Proximal Third Of Esophagus

  • Malignant Tumor Of The Middle Third Of The Esophagus

  • ESCR

  • Aerodigestive Tract Cancer

  • Escc

  • Esophageal Squamous Cell Carcinoma

  • Cancer, Esophageal

  • Malignant Neoplasm Of Esophagus

  • Squamous Cell Carcinoma Of Esophagus

  • Malignant Neoplasm Of Middle Third Of Esophagus

Diffuse Gastric Cancer
  • Hereditary Diffuse Gastric Adenocarcinoma

  • Hereditary Diffuse Gastric Cancer

  • Signet Cell Adenocarcinoma

  • Signet Ring Cell Carcinoma

  • Signet Ring Cell Gastric Carcinoma

  • Signet Ring Gastric Carcinoma

  • Fdgc

  • Familial Diffuse Cancer Of Stomach

  • Familial Diffuse Gastric Cancer

  • Gastric Cancer, Familial Diffuse

  • Gastric Cancer, Hereditary Diffuse

  • Hdgc

  • Hereditary Diffuse Cancer Of Stomach

  • Diffuse Gastric Cancer Syndrome

  • Cancer, Gastric, Diffuse

  • Carcinoma, Signet Ring Cell

  • Gastric Signet Ring Carcinoma

Ovarian Clear Cell Adenocarcinoma
Cowden Syndrome 1
  • Pten Hamartoma Tumor Syndrome

  • Bannayan-Riley-Ruvalcaba Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Lhermitte-Duclos Syndrome

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Ovarian Cystadenoma
  • Cystoma Serosum Simplex

  • Simple Cystoma Of Ovary

  • Simple Cystoma Of The Ovary

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Bile Duct Cystadenoma
  • Cystadenoma Of The Bile Duct

Familial Adenomatous Polyposis 2
  • Mutyh-Related Attenuated Familial Adenomatous Polyposis

  • FAP2

  • Colorectal Adenomatous Polyposis, Autosomal Recessive

  • Adenomas, Multiple Colorectal

  • Mutyh-Associated Polyposis

  • Mutyh-Related Attenuated Familial Polyposis Coli

  • Mutyh-Related Attenuated Fap

  • Adenomas, Multiple Colorectal, Autosomal Recessive

  • Mutyh-Related Afap

  • Adenomas Multiple Colorectal Autosomal Recessive

  • Colorectal Adenomatous Polyposis Autosomal Recessive

  • Adenomatous Polyposis, Familial, Type 2

Hypertrophy Of Breast
  • Breasts Enlarged

  • Large Breast

  • Hypertrophy Of Breast Nos

  • Hypertrophy Of Male Breast

  • Hypertrophic Breast

  • Excessive Development Of Breast

  • Macromastia

  • Mastoplastia

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • De Sanctis-Cacchione Syndrome

  • Xp

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Leukemia, Myeloid, Acute

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Li-Fraumeni Syndrome
  • Sarcoma Family Syndrome Of Li And Fraumeni

  • Sbla Syndrome

  • LFS

  • Li-Fraumeni Familiar Cancer Susceptibility Syndrome

  • Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

  • Lfs1

  • Li Fraumeni Syndrome

  • Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

  • Lfl

  • Sbla Syndrome Li-Fraumeni-Like Syndrome

  • Li-Fraumeni Syndrome 1

Ataxia-Telangiectasia
  • Ataxia Telangiectasia

  • Louis-Bar Syndrome

  • AT

  • At1

  • Ataxia-Telangiectasia Syndrome

  • Ataxia - Telangiectasia Variant

  • Boder-Sedgwick Syndrome

  • Louis Bar Syndrome

  • Cerebello-Oculocutaneous Telangiectasia

  • Immunodeficiency With Ataxia Telangiectasia

  • A-T

  • Ataxia Telangiectasia Syndrome

  • Atm

  • Telangiectasia, Cerebello-Oculocutaneous

  • Ataxia-Telangiectasia Variant

Inherited Cancer-Predisposing Syndrome
  • Hereditary Cancer-Predisposing Syndrome

Gastric Cancer
  • Stomach Cancer

  • Stomach Carcinoma

  • Gastric Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Congenital Heart Defects, Multiple Types, 3
  • CHTD3

  • Congenital Heart Defects, Multiple Types, With Cardiac Rhythm And Conduction Disturbances

Nijmegen Breakage Syndrome
  • Berlin Breakage Syndrome

  • NBS

  • Microcephaly, Normal Intelligence And Immunodeficiency

  • Ataxia-Telangiectasia Variant

  • Ataxia-Telangiectasia Variant V1

  • Seemanova Syndrome Ii

  • Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

  • Seemanova Syndrome Type 2

  • At-V1

  • Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

  • Immunodeficiency, Microcephaly, And Chromosomal Instability

  • Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

  • Microcephaly Immunodeficiency Lymphoreticuloma

  • Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

  • Seemanova Syndrome 2

  • Ataxia-Telangiectasia Variant 1

  • Seemanova Syndrome

  • At V1

  • Ataxia-Telangiectasia, Variant 1

  • Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

  • V-At

  • Ataxia Telangiectasia Variant V1

Tumor Predisposition Syndrome
  • TPDS

  • Tumor Predisposition

Lymphoma
  • Lymphoid Cancer

  • Lymphomas

  • Lymphoid Cancers

  • Lymphoid Neoplasm

  • Lymphoma Nos

  • Nhl - [Non-Hodgkin Lymphoma]

  • Non-Hodgkin Lymphoma

  • Non-Hodgkin Lymphoma, Nos

  • Non-Hodgkin Malignant Lymphoma Nos

Breast Cancer
  • Breast Carcinoma

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Male Breast Cancer

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Cowden Syndrome
  • Cowden Disease

  • Multiple Hamartoma Syndrome

  • Cowden'S Disease

  • Lhermitte-Duclos Disease

  • Cd

  • Cs

  • Mham

  • Dysplastic Gangliocytoma Of Cerebellum

  • Cowden'S Syndrome

  • Hamartoma Syndrome, Multiple

Superficial Urinary Bladder Cancer
  • Superficial Urinary Bladder Carcinoma

  • Carcinoma Of Urinary Bladder, Superficial

Seckel Syndrome
  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism

Diffuse Gastric And Lobular Breast Cancer Syndrome
  • Hereditary Diffuse Gastric Cancer

  • HDGC

  • LBC

  • Familial Diffuse Gastric Cancer

  • Fdgc

  • Hereditary Diffuse Gastric Adenocarcinoma

  • Breast Cancer, Lobular

  • Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

  • DGLBC

  • Gastric Cancer, Hereditary Diffuse

  • Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

  • Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

  • E-Cadherin-Associated Hereditary Gastric Cancer

  • Familial Diffuse Cancer Of Stomach

  • Hereditary Diffuse Cancer Of Stomach

  • Gastric Cancer Familial Diffuse

  • Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

  • Cancer, Gastric, Hereditary Diffuse

Neuroendocrine Carcinoma
  • Neuroendocrine Cancer

  • Carcinoma Neuroendocrine

  • Carcinoma, Neuroendocrine

Bilateral Breast Cancer
  • Bilateral Breast Carcinoma

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Li-Fraumeni Syndrome 1
  • Lfs1

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Melanoma, Cutaneous Malignant 1
  • Familial Melanoma

  • Melanoma, Cutaneous Malignant, Susceptibility To, 1

  • CMM1

  • Melanoma, Cutaneous Malignant

  • Cmm

  • Melanoma, Malignant

  • Familial Atypical Mole-Malignant Melanoma Syndrome

  • Fammm

  • Melanoma, Familial

  • Mlm

  • Dysplastic Nevus Syndrome, Hereditary

  • Dns

  • B-K Mole Syndrome

  • Melanoma, Cutaneous Malignant, 1

  • Malignant Melanoma, Cutaneous

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

  • Dysplastic Nevus Syndrome

  • Cutaneous Melanoma

  • Familial Atypical Mole Melanoma Syndrome

  • Hereditary Melanoma

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Cancer Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Acute Promyelocytic Leukemia
  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic

Sarcoma
  • Connective And Soft Tissue Neoplasm

  • Tumor Of Soft Tissue And Skeleton

  • Sarcomas

  • Sarcoma - Category

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Rhabdomyosarcoma
Diamond-Blackfan Anemia 11
  • DBA11

  • Rpl26-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 11

Telangiectasis
  • Telangiectasia

Hereditary Breast Cancer
  • Familial Breast Cancer

  • Familial Breast Carcinoma

  • Hereditary Breast Carcinoma

Autosomal Genetic Disease
  • Autosomal Hereditary Disorder

Colitis
Small Cell Carcinoma
  • Small Cell Carcinoma, Intermediate Cell

  • Intermediate Cell Small Cell Carcinoma

  • Small Cell Carcinoma - Intermediate Cell

  • Small Cell Carcinoma Of Lung

  • Carcinoma, Small Cell

Leiomyosarcoma
  • Leiomyosarcomas

Cervical Adenoma Malignum
  • Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Fallopian Tube Carcinoma
  • Fallopian Tube Cancer

  • Cancer Of The Fallopian Tube

  • Carcinoma Of Fallopian Tube

  • Neoplasm Of Fallopian Tube

  • Fallopian Tube Neoplasms

  • Fallopian Tube Ca

  • Fallopian Tube Neoplasm

  • Malignant Neoplasm Of Uterine Tube

  • Malignant Tumor Of Fallopian Tube

  • Malignant Tumour Of Fallopian Tube

  • Tumor Of The Fallopian Tube

  • Tumor, Fallopian Tube, Malignant

  • Malignant Tumor Of Fallopian Tubes

  • Cancer Of Fallopian Tubes

  • Malignant Tubal Tumor

  • Tubal Cancer

  • Malignant Neoplasm Of Fallopian Tube

  • Primary Malignant Neoplasm Of Fallopian Tube

  • Cancer Of The Oviduct

Li-Fraumeni Syndrome 2
  • LFS2

  • Li-Fraumeni Syndrome, Type 2

  • Li-Fraumeni Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus CHEK2 VGNC VGNC:60851
Rattus norvegicus CHEK2 RGD RGD:621543
Macaca mulatta CHEK2 VGNC VGNC:70958
Bos taurus CHEK2 VGNC VGNC:27286
Mus musculus CHEK2 MGD MGI:1355321
Canis familiaris CHEK2 VGNC VGNC:39209
Others CHEK2 NCBI