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Details of BTK gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| BTK | AGMX1 | ATK | BPK | Q06187 | Q32ML5 | 1AWW 1AWX 1B55 1BTK 1BWN 1K2P 1QLY 2GE9 2Z0P 3GEN 3K54 3OCS 3OCT 3P08 3PIX 3PIY 3PIZ 3PJ1 3PJ2 3PJ3 1AWW 1AWX 1B55 1BTK 1BWN 1K2P 1QLY 2GE9 2Z0P 3GEN 3K54 3OCS 3OCT 3P08 3PIX 3PIY 3PIZ 3PJ1 3PJ2 3PJ3 | 307200 | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| X-linked agammaglobulinemia (XLA) [MIM:300755]: Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis | dermatitis | X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA-IGHD) [MIM:307200]: In rare cases XLA is inherited together with isolated growth hormone deficiency (IGHD). Note=The disease may be caused by mutations affecting the gene represented in this entry. | 307200 | ||||||
Phenotypes
Abdominal symptom, Abnormal axial skeleton morphology, Abnormal immunoglobulin level, Abnormal internal genitalia, Abnormal joint morphology, Abnormality of blood and blood-forming tissues, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of body height, Abnormality of cardiac ventricle, Abnormality of cellular immune system, Abnormality of facial skeleton, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of male internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of skeletal maturation, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skin physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the conjunctiva, Abnormality of the ear, Abnormality of the epididymis, Abnormality of the eye, Abnormality of the face, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the heart, Abnormality of the immune system, Abnormality of the integument, Abnormality of the liver, Abnormality of the lung, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of the male genitalia, Abnormality of the middle ear, Abnormality of the nasopharynx, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the pharynx, Abnormality of the prostate, Abnormality of the respiratory system, Abnormality of the right ventricle, Abnormality of the sinuses, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Agammaglobulinemia, All, Arthritis, Chronic otitis media, CNS infection, Cognitive impairment, Conjunctivitis, Cor pulmonale, Delayed skeletal maturation, Delayed speech and language development, Diarrhea, Encephalitis, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, Epididymitis, Generalized abnormality of skin, Gonosomal inheritance, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hypogammaglobulinemia, Inflammatory abnormality of the eye, Inflammatory abnormality of the skin, Lymph node hypoplasia, Malformation of the heart and great vessels, Meningitis, Mode of inheritance, Neoplasm, Otitis media, Panhypogammaglobulinemia, Phenotypic abnormality, Pneumonia, Prostatitis, Pyoderma, Recurrent bacterial infections, Recurrent bacterial skin infections, Recurrent enteroviral infections, Recurrent infections, Recurrent skin infections, Recurrent viral infections, Respiratory tract infection, Septic arthritis, Short stature, Sinusitis, Viral hepatitis, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||