JAK3 - Janus kinase 3 Gene

Also Known as JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3718

About JAK3

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,824,782-17,847,982 (from NCBI)

This gene has 11 transcripts (splice variants), 103 orthologues, 32 paralogues and is associated with 129 phenotypes. Biased expression in appendix (RPKM 19.5), lymph node (RPKM 18.2) and 12 other tissues.

Summary

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

JAK3 Products (4)

mRNA Protein Name
XM_011527991.3 XP_011526293.2 tyrosine-protein kinase JAK3 isoform X2
NM_000215.4 NP_000206.2 tyrosine-protein kinase JAK3
XR_007066796.1
XM_047438786.1 XP_047294742.1 tyrosine-protein kinase JAK3 isoform X1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
9045636 GOA
enables protein phosphatase binding IPI
IPI: Inferred from physical interaction
11909529 GOA
enables protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
7973658 GOA
enables protein tyrosine kinase activity IMP
IMP: Inferred from mutant phenotype
18250158 GOA
Biological Process GO Annotation Evidence References Source
involved in interleukin-15-mediated signaling pathway IDA
IDA: Inferred from direct assay
7568001 GOA
involved in interleukin-2-mediated signaling pathway IDA
IDA: Inferred from direct assay
7973659 GOA
involved in interleukin-4-mediated signaling pathway IDA
IDA: Inferred from direct assay
7538655 GOA
involved in interleukin-7-mediated signaling pathway IDA
IDA: Inferred from direct assay
9182906 GOA
involved in interleukin-9-mediated signaling pathway IDA
IDA: Inferred from direct assay
18829468 GOA
involved in negative regulation of T-helper 17 cell lineage commitment IDA
IDA: Inferred from direct assay
20696842 GOA
involved in response to interleukin-4 IDA
IDA: Inferred from direct assay
7538655 GOA
Cellular Component GO Annotation Evidence References Source
is active in extrinsic component of cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
7568001 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

JAK3 Protein Structure

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (521 - 777)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (823 - 1093)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1124 a.a.
Protein Preferred Names Protein Names

tyrosine-protein kinase JAK3

  • Janus kinase 3 (a protein tyrosine kinase, leukocyte)

  • leukocyte Janus kinase

JAK3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
JAK3 P52333 NAP1L1 Homo sapiens P55209 32707033
Intra
JAK3 P52333 NAP1L1 Homo sapiens P55209 25852190
Intra
JAK3 P52333 MAGED2 Homo sapiens Q9UNF1 32707033
Intra
JAK3 P52333 MAGED2 Homo sapiens Q9UNF1 25852190
Cross: Cross-species interaction Intra: Intraspecies interaction

JAK3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82721 JAK3 Antibody (YA2466) WB, ICC/IF Human
HY-P84381 JAK3 Antibody (YA4078) WB, ICC/IF, FC, ELISA Human, Mouse
HY-P84381A JAK3 Antibody (YA4078)(PBS only) WB, ICC/IF, FC, ELISA Human, Mouse
HY-P85234 JAK3 Antibody (YA4926) WB; IHC-P; IHC-F; ICC/IF; IF-Tissue Human
HY-P85716 JAK3 Antibody (YA5408) IHC-P Human, Mouse, Rat
HY-P86474 JAK3 Antibody (YA6166) WB, ICC/IF, IP, ELISA Human

Related Diseases

Diseases Alias
Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Nk-Cell Enteropathy
Reticular Dysgenesis
  • Severe Combined Immunodeficiency With Leukopenia

  • De Vaal Disease

  • Congenital Aleukia

  • Aleukocytosis

  • Hematopoietic Hypoplasia, Generalized

  • Reticular Dysgenesia

  • Devaal Disease

  • Rd

  • Ak2 Deficiency

  • Congenital Aleukocytosis

  • Generalized Hematopoietic Hypoplasia

  • Scid With Leukopenia

  • RDYS

Prolymphocytic Leukemia
  • Pll

  • Prolymphocytic Leukaemia

  • Leukemia Prolymphocytic

  • Leukemia, Prolymphocytic

Chronic Granulomatous Disease
  • Cgd

  • Granulomatous Disease, Chronic

  • Autosomal Recessive Chronic Granulomatous Disease

  • X-Linked Chronic Granulomatous Disease

  • Bridges-Good Syndrome

  • Congenital Dysphagocytosis

  • Quie Syndrome

  • Chronic Septic Granulomatosis

  • Chronic Granulomatous Disorder

  • Granulomatous Disease Chronic

  • Granulomatous Disease, Chronic, X-Linked

Allergic Disease
  • Hypersensitivity

  • Allergic Hypersensitivity Disease

  • Allergic Condition

  • Allergic Reaction

  • Allergic Disposition

Myeloproliferative Neoplasm
  • Myeloproliferative Disorder

  • Chronic Myeloproliferative Disease

  • Myeloproliferative Neoplasms

  • Chronic Myeloproliferative Disorder

  • Cmpd

  • Cmpd, U

  • Chronic Myeloproliferative Disorders

  • Mpd

  • Mpn

  • Myeloproliferative Disorders

  • Myeloproliferative Disease

  • Campomelic Dysplasia

Nasopharyngitis
  • Chronic Nasopharyngitis

  • Chronic Rhinopharyngitis

Immunodeficiency 35
  • Tyrosine Kinase 2 Deficiency

  • IMD35

  • Tyk2 Deficiency

  • Autosomal Recessive Hyper-Ige Syndrome With Atypical Mycobacteriosis

  • Susceptibility To Infection Due To Tyk2 Deficiency

  • Hyper-Ige Syndrome With Atypical Mycobacteriosis, Autosomal Recessive

  • Hies With Atypical Mycobacteriosis, Autosomal Recessive

  • Autosomal Recessiv Hies With Atypical Mycobacteriosis

  • Autosomal Recessive Hyper-Ige Syndrome Due To Tyk2 Deficiency

  • Autosomal Recessive Hies With Atypical Mycobacteriosis

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency Disease

  • Primary Immunodeficiency

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Intellectual Developmental Disorder, Autosomal Dominant 4
  • MRD4

  • Autosomal Dominant Non-Syndromic Intellectual Disability 4

  • Mental Retardation, Autosomal Dominant 4

  • Autosomal Dominant Intellectual Developmental Disorder 4

Adult Acute Lymphocytic Leukemia
  • Adult Acute Lymphoid Leukemia

  • Adult All

Reticulosarcoma
  • Histiocytic Lymphoma

  • Large-Cell Lymphomas

  • Lymphoma, Large-Cell

  • Lymphoma Large Cell

  • Diffuse Large B-Cell Lymphoma

  • Histiocytic Sarcoma

Anaplastic Large Cell Lymphoma
  • Alcl

  • Cd30 Positive Anaplastic Large Cell Lymphoma

  • Ki-1 Positive Anaplastic Large Cell Lymphoma

  • Primary Systemic Alcl

  • Sacl

  • Ki-1+ Anaplastic Large Cell Lymphoma

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Struma Ovarii
Janus Kinase-3 Deficiency
Autoimmune Disease
  • Autoimmune Diseases

  • Autoimmune Hypersensitivity Disease

  • Hypersensitivity Reaction Type Ii Disease

  • Type Ii Hypersensitivity Reaction Disease

Inflammatory Bowel Disease 28
  • Early Onset Autosomal Recessive Inflammatory Bowel Disease 28

  • Ibd28

  • Inflammatory Bowel Disease 28, Autosomal Recessive

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

  • Severe Combined Immunodeficiency, B Cell-Negative

  • T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency

  • Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency

  • Scid Due To Complete Rag1/2 Deficiency

  • T B NK SCID

  • Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

  • Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

  • Scid, Autosomal Recessive, T-Negative/B-Positive Type

  • Autosomal Recessive T Cell-Negative, B-Cell Negative, Nk Cell-Positive Scid

  • Scid Due To Complete Rag1-2 Deficiency

  • Severe Combined Immunodeficiency Due To Complete Rag1-2 Deficiency

  • Scid, Ar, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

  • Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

  • Jak3-Deficient Severe Combined Immunodeficiency

  • Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Negative Severe Combined Immunodeficiency

  • Autosomal Recessive T-B+Nk- Scid

  • Jak3 Scid

  • T Cell-Negative, B Cell-Positive, Nk Cell-Negative Scid

  • T-B+ Scid Due To Jak3 Deficiency

  • Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive

  • Scid T Cell-Negative B Cell-Negative Nk Cell-Positive

  • Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/B Cell-Negative/Nk Cell-Positive

  • Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/B-Cell Negative/Nk-Cell Positive

  • Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

  • Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/B Cell-Positive/Nk Cell-Negative

  • Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/B-Cell Positive/Nk-Cell Negative

  • Immunodeficiency, Severe Combined, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

  • Immunodeficiency, Severe Combined, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Adenosine Deaminase Deficiency
  • Ada Deficiency

  • Ada-Scid

  • Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

  • Adenosine Deaminase Deficient Severe Combined Immunodeficiency

  • Scid Due To Ada Deficiency

  • Severe Combined Immunodeficiency Due To Ada Deficiency

  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

  • Ada

  • Scid Due To Adenosine Deaminase Deficiency

Essential Thrombocythemia
  • Essential Thrombocytosis

  • Familial Thrombocytosis

  • Hemorrhagic Thrombocythemia

  • Hereditary Thrombocythemia

  • Primary Thrombocytosis

  • Idiopathic Thrombocythemia

  • Primary Thrombocythemia

  • Thrombocythemia, Essential

  • Essential Thrombocythaemia

  • Et

  • Familial Thrombocythemia

  • Thrombocythemia Essential

Severe Combined Immunodeficiency, X-Linked
  • X-Linked Severe Combined Immunodeficiency

  • SCIDX1

  • XSCID

  • Scidx

  • X-Linked Scid

  • X-Scid

  • Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

  • Scid, X-Linked

  • Immunodeficiency 4

  • Imd4

  • Gamma Chain Deficiency

  • Scid-X1

  • X-Linked Combined Immunodeficiency Diseases

  • Thymic Epithelial Hypoplasia

  • Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency

  • Severe Combined Immunodeficiency T- B+, X-Linked

  • Il2rg Scid, T- B+ Nk-

  • T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency

  • T-B+ Scid Due To Gamma Chain Deficiency

  • T-B+ Severe Combined Immunodeficiency, X-Linked

  • Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

  • Agammaglobulinemia Swiss Type

  • Scid X-Linked

  • Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative

  • Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative

  • Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

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

Hyper Ige Recurrent Infection Syndrome 1
  • Job Syndrome

  • Hyper-Ige Recurrent Infection Syndrome 1

  • Hyperimmunoglobulin E Syndrome

  • Job'S Syndrome

  • Recurring Cold Staphylococcal Abscesses

  • Ige Syndromes

  • Buckley Syndrome

  • Hie - [Hyperimmunoglobulin E] Syndrome

  • Job-Buckley Syndrome

  • Quie-Hill Syndrome

T-Cell Adult Acute Lymphocytic Leukemia
  • Acute Adult T-Cell Leukemia-Lymphoma

  • Adult Precursor T Lymphoblastic Leukemia

  • Atll

  • T-Cell Adult Acute Lymphoblastic Leukemia

Alopecia Universalis Congenita
  • Alopecia Universalis

  • ALUNC

  • Atrichia, Generalized

  • Au

  • Alopecia Areata Universalis

  • Atrichia Generalized

Myeloproliferative Syndrome, Transient
  • Transient Abnormal Myelopoiesis

  • Transient Myeloproliferative Syndrome

  • Transient Myeloproliferative Disease

  • Mst

  • Tam

  • Leukemia, Transient, Of Down Syndrome

  • Tmd

  • Leukemia, Transient

  • Transient Leukemia

  • Transient Leukemia Of Down Syndrome

Myelofibrosis
  • Primary Myelofibrosis

  • Agnogenic Myeloid Metaplasia

  • Idiopathic Myelofibrosis

  • Myeloid Metaplasia

  • Myelofibrosis With Myeloid Metaplasia

  • Osteomyelofibrosis

  • Megakaryocytic Myelosclerosis

  • Myelosclerosis

  • Chronic Idiopathic Myelofibrosis

  • Myelofibrosis, Idiopathic

  • Myelofibrosis With Myeloid Metaplasia, Somatic

  • Myelofibrosis, Somatic

  • Aleukemic Myelosis

  • Bone Marrow Fibrosis

  • MYELOF

  • MMM

  • Agnogenic Myeloid Metaplasia With Myelofibrosis

  • Ammm

  • Myelosclerosis With Myeloid Metaplasia

  • Myelofibrosis Nos

Bare Lymphocyte Syndrome, Type Ii
  • Mhc Class Ii Deficiency

  • Bare Lymphocyte Syndrome

  • Major Histocompatibility Complex Class Ii Deficiency

  • Bare Lymphocyte Syndrome 2

  • Bare Lymphocyte Syndrome Type 2

  • Severe Combined Immunodeficiency, Hla Class Ii-Negative

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

  • Bare Lymphocyte Syndrome Type Ii

  • Scid, Hla Class Ii-Negative

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

  • Scid Due To Absent Class Ii Hla Antigens

  • Hla Class 1 Deficiency

  • Scid, Hla Class 2-Negative

  • Bls Type Ii

  • Bare Lymphocyte Syndrome Type 2, Complementation Group A

  • Bare Lymphocyte Syndrome Type 2, Complementation Group E

  • Severe Combined Immunodeficiency

  • Bls, Type Ii

  • Bls

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

  • Mhc Class Ii Deficiency, Complementation Group B

  • Blsii

  • Bls Type 1

  • Bls 2

  • Scid Due To Absence Of Class Ii Hla Antigens

  • Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

  • Immunodeficiency By Defective Expression Of Mhc Class Ii

  • BLS2

  • Bare Lymphocyte Syndrome Type Ii Complementation Group A

  • Bare Lymphocyte Syndrome Type Ii Complementation Group B

  • Bare Lymphocyte Syndrome Type Ii Complementation Group C

  • Bare Lymphocyte Syndrome Type Ii Complementation Group D

  • Bare Lymphocyte Syndrome Type Ii Complementation Group E

  • Bls Ii

  • Hereditary Mhc Class Ii Deficiency

  • Hla Class Ii Deficient Combined Immunodeficiency

  • Mhc-Ii Deficiency

  • Scid Hla Class Ii-Negative

  • Severe Combined Immunodeficiency Hla Class Ii-Negative

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

  • Bl-2

  • Immunodeficiency By Defective Expression Of Hla Class 2

  • Hla Class 2-Negative Severe Combined Immunodeficiency

Purine Nucleoside Phosphorylase Deficiency
  • Purine-Nucleoside Phosphorylase Deficiency

  • Pnp Deficiency

  • Nucleoside Phosphorylase Deficiency

  • Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

  • Deficiency Of Inosine Phosphorylase

  • Pnpase Deficiency

  • PNPD

Skin Disease
  • Skin Diseases

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Genodermatosis

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Polycythemia Vera
  • PV

  • Polycythemia Rubra Vera

  • Prv

  • Osler-Vaquez Disease

  • Chronic Erythremia

  • Polycythaemia Rubra Vera

  • Primary Polycythemia

  • Vaquez Disease

  • Polycythemia Vera, Somatic

  • Osler-Vaquez Syndrome

  • Proliferative Polycythaemia

  • Polycythemia Ruba Vera

  • Acquired Primary Erythrocytosis

  • Heilmeyer-Schoner Disease

  • Vaquez Osler Disease

  • Primary Polycythaemia

Sezary'S Disease
  • Sezary Syndrome

  • Sézary Syndrome

  • Sezary'S Lymphoma

  • Sezary Disease

  • Sezary Erythroderma

  • Sezary Lymphoma

Psoriatic Arthritis
  • Psoriatic Arthritis, Susceptibility To

  • Psoriatic Arthropathy

  • Arthropathic Psoriasis

  • Arthritis, Psoriatic

  • Arthritis Psoriatica

  • PSORAS

  • Arthritic Psoriasis

  • Psoriasis Arthropathica

  • Arthritis Psoriatic

  • Arthritis, Psoriatic, Susceptibility To

Lymphoblastic Leukemia, Acute, With Lymphomatous Features
  • LALL

  • Lymphomatous All

  • Leukemia, Acute Lymphoblastic

  • Acute Lymphoblastic Leukemia With Lymphomatous Features

Juvenile Myelomonocytic Leukemia
  • Leukemia, Juvenile Myelomonocytic

  • JMML

  • Leukemia, Juvenile Myelomonocytic, Somatic

  • Juvenile Chronic Myelomonocytic Leukemia

  • Juvenile Chronic Myelogenous Leukemia

  • Leukemia, Myelomonocytic, Juvenile

  • Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
  • Severe Combined Immunodeficiency, Athabascan Type

  • Severe Combined Immunodeficiency Due To Dclre1c Deficiency

  • Rs-Scid

  • Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation

  • Scid Due To Artemis Deficiency

  • Scid Due To Dclre1c Deficiency

  • Scid, Athabascan Type

  • Scid, Athabaskan Type

  • Severe Combined Immunodeficiency Due To Artemis Deficiency

  • Severe Combined Immunodeficiency, Athabaskan Type

  • SCIDA

  • Severe Combined Immunodeficiency, Athabascan-Type

  • Artemis Deficiency

  • Severe Combined Immunodeficiency Athabaskan Type

  • Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation

  • RSSCID

  • Athabascan Scid

  • Immunodeficiency, Severe Combined, Athabascan Type

  • Severe Combined Immunodeficiency, Athabaskan-Type

Common Variable Immunodeficiency
  • Cvid

  • Common Variable Agammaglobulinemia

  • Acquired Hypogammaglobulinemia

  • Common Variable Immune Deficiency

  • Hypogamma-Globulinemia, Acquired

  • Idiopathic Immunoglobulin Deficiency

  • Primary Antibody Deficiency

  • Primary Hypogammaglobulinemia

  • Acquired Agammaglobulinemia

  • Sporadic Hypogammaglobulinemia

  • Common Variable Hypogamma-Globulinemia

  • Immunoglobulin Deficiency, Late-Onset

  • Common Variable Hypogammaglobulinemia

  • Immunodeficiency, Common Variable

Severe Combined Immunodeficiency
  • Scid

  • Severe Combined Immunodeficiency Disease

  • Combined T And B Cell Inborn Immunodeficiency

  • Immunodeficiency, Severe Combined

  • Scid - [Severe Combined Immunodeficiencies]

Mature T-Cell And Nk-Cell Lymphoma
  • Mature T-Cell And Natural Killer Cell Lymphoma

  • Nk-T Cell Lymphoma

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

Geotrichosis
T-Cell Prolymphocytic Leukemia
  • T Cell Prolymphocytic Leukemia

  • Prolymphocytic Leukemia, T-Cell Type

  • T-Pll

  • T-Cell Chronic Lymphocytic Leukemia

  • Lymphocytic Leukemia T-Cell Chronic

  • Doid:0081042

  • Leukemia, T-Cell, Chronic

  • Prolymphocytic Leukaemia Of T-Cell Type Without Mention Of Remission

Omenn Syndrome
  • Histiocytic Medullary Reticulosis

  • Severe Combined Immunodeficiency With Hypereosinophilia

  • Combined Immunodeficiency With Hypereosinophilia

  • Reticuloendotheliosis, Familial, With Eosinophilia

  • Reticuloendotheliosis Familial With Eosinophilia

  • Familial Reticuloendotheliosis

  • Omenn'S Syndrome

  • OS

  • Malignant Histiocytosis

Down Syndrome
  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21

Acute Megakaryocytic Leukemia
  • Acute Megakaryoblastic Leukemia

  • Acute Megakaryoblastic Leukaemia

  • Megakaryocytic Myelosis

  • Thrombocytic Leukaemia

  • Amkl

  • Aml M7

  • Acute Myeloblastic Leukemia Type 7

  • Acute Myeloid Leukemia M7

  • Megakaryoblastic Leukemia Acute

  • Leukemia, Megakaryoblastic, Acute

  • Acute Myeloid Leukaemia, M7

  • Acute Megakaryocytic Leukaemia

  • Acute Megakaryoblastic Leukaemia, Fab M7

  • Fab M7

  • Malignant Megakaryocytosis

  • M7 - Acute Megakaryoblastic Leukaemia

  • Megakaryoblastic Leukaemia

  • Megakaryocytic Leukaemia

  • Acute Megakaryoblastic Leukaemia, Nos

  • Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Hyper Ige Syndrome
  • Hyper-Ige Syndrome

  • Hyper Immunoglobulin E Syndrome

  • Hies

  • Hyper-Ige Recurrent Infection Syndrome

  • Hyperimmunoglobulin E Syndrome

  • Hyper Ige

  • Job Syndrome

  • Hartnup Disease

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
Canis familiaris JAK3 VGNC VGNC:42177
Rattus norvegicus JAK3 RGD RGD:2940
Macaca mulatta JAK3 VGNC VGNC:73812
Felis catus JAK3 VGNC VGNC:67878
Bos taurus JAK3 VGNC VGNC:30366
Mus musculus JAK3 MGD MGI:99928
Others JAK3 NCBI