H2AX - H2A.X variant histone Gene

Also Known as H2A.X; H2A/X; H2AFX

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3014

About H2AX

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,093,874-119,095,465 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues and 27 paralogues.

Summary

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]

H2AX Products (1)

mRNA Protein Name
NM_002105.3 NP_002096.1 histone H2AX
Molecular Function GO Annotation Evidence Verweise Source
enables chromatin-protein adaptor activity IDA
IDA: Inferred from direct assay
12419185 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
19234442 GOA
enables histone binding IPI
IPI: Inferred from physical interaction
19234442 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12419185 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in DNA damage checkpoint signaling IDA
IDA: Inferred from direct assay
17974976 GOA
involved in DNA damage response IDA
IDA: Inferred from direct assay
15149599 GOA
involved in DNA damage response IMP
IMP: Inferred from mutant phenotype
27248496 GOA
involved in protein localization to site of double-strand break IDA
IDA: Inferred from direct assay
12419185 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in centrosome IDA
IDA: Inferred from direct assay
17498979 GOA
colocalizes with chromosome, telomeric region IDA
IDA: Inferred from direct assay
15149599 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11331621 GOA
located in nucleus IMP
IMP: Inferred from mutant phenotype
24507776 GOA
located in site of DNA damage IMP
IMP: Inferred from mutant phenotype
27248496 GOA
is active in site of double-strand break IDA
IDA: Inferred from direct assay
12419185 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
21270334 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

H2AX Protein Structure

Histone

Histone: Core histone H2A/H2B/H3/H4 (18 - 91)

  • 0
  • 100
  • 143 a.a.
Protein Preferred Names Protein Names

histone H2AX

  • H2A histone family member X

H2AX Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
H2AX P16104 PPM1D Homo sapiens O15297 20118229
Cross
H2AX P16104 Eya3 Mus musculus Q6P4T3 19234442
Cross
H2AX P16104 Eya3 Mus musculus Q6P4T3 19234442
Intra
H2AX P16104 VRK1 Homo sapiens Q99986 25923214
Intra
H2AX P16104 MAPK8 Homo sapiens P45983 19234442
Intra
H2AX P16104 H4C16 Homo sapiens P62805 20000738
Intra
H2AX P16104 H4C16 Homo sapiens P62805 33961781
Intra
H2AX P16104 H4C16 Homo sapiens P62805 20224553
Intra
H2AX P16104 H4C16 Homo sapiens P62805 28514442
Intra
H2AX P16104 H4C16 Homo sapiens P62805
TAP
24981860
Intra
H2AX P16104 SMARCA4 Homo sapiens P51532 20224553
Intra
H2AX P16104 BRCA1 Homo sapiens P38398
IF
18001825
Intra
H2AX P16104 BRCA1 Homo sapiens P38398 18001824
Intra
H2AX P16104 LMNA Homo sapiens P02545 23658700
Intra
H2AX P16104 LMNA Homo sapiens P02545 20000738
Intra
H2AX P16104 LMNA Homo sapiens P02545
PLA
23658700
Intra
H2AX P16104 H3-4 Homo sapiens Q16695 20224553
Intra
H2AX P16104 MRE11 Homo sapiens P49959 12419185
Intra
H2AX P16104 MRE11 Homo sapiens P49959 19234442
Intra
H2AX P16104 MRE11 Homo sapiens P49959 16377563
Intra
H2AX P16104 MRE11 Homo sapiens P49959 12419185
Intra
H2AX P16104 MRE11 Homo sapiens P49959 18583988
Intra
H2AX P16104 TP53BP1 Homo sapiens Q12888
IF
21317870
Intra
H2AX P16104 TP53BP1 Homo sapiens Q12888 18001824
Intra
H2AX P16104 H2BC5 Homo sapiens P58876 30021884
Intra
H2AX P16104 H2BC5 Homo sapiens P58876 33961781
Intra
H2AX P16104 H2BC5 Homo sapiens P58876 28514442
Intra
H2AX P16104 NBN Homo sapiens O60934 12419185
Intra
H2AX P16104 NBN Homo sapiens O60934 16377563
Intra
H2AX P16104 NBN Homo sapiens O60934
IF
22565321
Intra
H2AX P16104 NBN Homo sapiens O60934 18583988
Intra
H2AX P16104 MDC1 Homo sapiens Q14676 12607005
Intra
H2AX P16104 MDC1 Homo sapiens Q14676 16377563
Intra
H2AX P16104 MDC1 Homo sapiens Q14676 18583988
Intra
H2AX P16104 MDC1 Homo sapiens Q14676 19234442
Intra
H2AX P16104 MDC1 Homo sapiens Q14676 19234442
Intra
H2AX P16104 MDC1 Homo sapiens Q14676 16377563
Cross
H2AX P16104 Q9Z0X1-PRO_0000022031 Mus musculus Q9Z0X1-PRO_0000022031
SPR
20360685
Intra
H2AX P16104 TERF2 Homo sapiens Q15554 21044950
Intra
H2AX P16104 TERF2 Homo sapiens Q15554
IF
21824286
Intra
H2AX P16104 PAXIP1 Homo sapiens Q6ZW49-1
FPS
22064073
Cross
H2AX P16104 Apbb1 Rattus norvegicus P46933-1 19234442
Cross
H2AX P16104 Apbb1 Rattus norvegicus P46933-1 19234442
Cross: Cross-species interaction Intra: Intraspecies interaction

H2AX Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P80161 Histone H2A.X Antibody (YA380) WB, ICC/IF, IHC-P, IP Human, Mouse, Rat
HY-P80463 Phospho-Histone H2A.X (Ser139) Antibody (YA190) WB, IHC-P, ICC/IF, IF-Tissue Human, Mouse, Rat, Monkey
HY-P80821 Phospho-Histone H2A.X (Ser139) Antibody (YA191) WB, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P80821A Phospho-Histone H2A.X (Ser139) Antibody (YA191)(PBS only) WB, IP Human, Mouse, Rat
HY-P80941 Phospho-Histone H2A.X (Ser139) Antibody (YA844) WB, ICC/IF Human, Mouse
HY-P80941A Phospho-Histone H2A.X (Ser139) Antibody (YA844)(PBS only) WB, ICC/IF Human, Mouse
HY-P84123 H2A.X Antibody (YA3820) WB, IHC-P, ICC/IF, FC Human
HY-P84123A H2A.X Antibody (YA3820)(PBS only) WB, IHC-P, ICC/IF, FC Human
HY-P86516 Phospho-Histone H2A.X(Ser139) Antibody (YA6208) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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

Riddle Syndrome
  • RIDL

  • Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome

  • Rnf168 Deficiency

  • Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties

  • Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties

Diffuse Large B-Cell Lymphoma
  • Dlbcl

  • Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

  • Large B-Cell Diffuse Lymphoma

  • Lymphoma, Large B-Cell, Diffuse

  • Dlbcl - [Diffuse Large B-Cell Lymphoma]

  • Diffuse Large Beta Cell Lymphoma

B-Cell Lymphoma
  • Lymphoma, B-Cell

  • B-Cell Lymphomas

  • B-Cell Lymphocytic Neoplasm

  • Lymphoma B-Cell

  • B-Cell Lymphoma Nos

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

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

Epicardium Cancer
  • Malignant Neoplasm Of Epicardium

  • Epicardial Tumor

  • Malignant Epicardial Tumor

  • Neoplasm Of Epicardium

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Autosomal Recessive Cerebellar Ataxia
  • Arca

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The 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

  • 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

Bone Cancer
  • Malignant Bone Neoplasm

  • Bone Carcinoma

  • Bone Neoplasms

  • Bone Neoplasm

  • Bone Tumour

  • Ca - Bone Cancer

  • Malignant Bone Tumour

  • Malignant Neoplasm Of Bone

  • Malignant Osseous Tumor

  • Neoplasm Of Bone

  • Osseous Tumor

  • Osteosarcoma Of Bone

  • Osteogenic Neoplasm

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

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

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • 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

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

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

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
Macaca mulatta H2AX VGNC VGNC:109694
Felis catus H2AX VGNC VGNC:109892
Rattus norvegicus H2AX RGD RGD:1566119
Bos taurus H2AX VGNC VGNC:83617
Mus musculus H2AX MGD MGI:102688
Canis familiaris H2AX VGNC VGNC:83734
Others H2AX NCBI