Please wait while page loads....
Details of ITK gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ITK | EMT,LYK | Q08881 | ITK_HUMAN | 3702
| ENSG00000113263
| Tyrosine-protein kinase ITK/TSK | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613011 |
Phenotypes
Abnormal immunoglobulin level, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of bone marrow cell morphology, Abnormality of cellular immune system, Abnormality of head and neck, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of oral mucosa, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the face, Abnormality of the head, Abnormality of the immune system, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the lymph nodes, Abnormality of the mouth, Abnormality of the oral cavity, Abnormality of the spleen, Age of onset, All, Autosomal recessive inheritance, Elevated erythrocyte sedimentation rate, Hematological neoplasm, Hepatomegaly, Hypogammaglobulinemia, IgG deficiency, Juvenile onset, Lymphadenopathy, Lymphoma, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Onset, Onset and clinical course, Pancytopenia, Phenotypic abnormality, Recurrent infections, Splenomegaly, Stomatitis, Visceromegaly.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Itk | Btk29A | --- | Sp-Btk |
