Search for a gene
KIT - KIT proto-oncogene, receptor tyrosine kinase
- Synonym(s) : CD117, C-Kit, mast/stem cell growth factor receptor Kit, SCFR
- Previous symbols and names : PBT, piebald trait, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
- Type : gene with protein product
- Chromosomal location : 4q12
- OMIM: 164920
- HGNC: 6342
- UniProtKB: P10721
- Genatlas: KIT
- GenCC: KIT
- Ensembl: ENSG00000157404
- IUPHAR-DB: 1805
- Reactome: P10721
- LOVD: KIT
Diseases list
- Disease-causing germline mutation(s) in Acute mast cell leukemia
ORPHA:566393 
- Disease-causing germline mutation(s) in Bullous diffuse cutaneous mastocytosis
ORPHA:280785 - Disease-causing germline mutation(s) in Chronic mast cell leukemia
ORPHA:566396 - Disease-causing germline mutation(s) in Cutaneous mastocytoma
ORPHA:79455 - Disease-causing germline mutation(s) in Nodular urticaria pigmentosa
ORPHA:158772 - Disease-causing germline mutation(s) in Plaque-form urticaria pigmentosa
ORPHA:158769 - Disease-causing germline mutation(s) in Pseudoxanthomatous diffuse cutaneous mastocytosis
ORPHA:280794 - Disease-causing germline mutation(s) in Telangiectasia macularis eruptiva perstans
ORPHA:90389 - Disease-causing germline mutation(s) in Typical urticaria pigmentosa
ORPHA:158766 - Disease-causing germline mutation(s) (loss of function) in Piebaldism
ORPHA:2884 - Disease-causing germline mutation(s) (gain of function) in Gastrointestinal stromal tumor
ORPHA:44890 - Disease-causing somatic mutation(s) in Acute myeloblastic leukemia with maturation
ORPHA:98834 - Disease-causing somatic mutation(s) in Gastrointestinal stromal tumor
ORPHA:44890 - Disease-causing somatic mutation(s) in Isolated bone marrow mastocytosis
ORPHA:158778 - Disease-causing somatic mutation(s) in Smoldering systemic mastocytosis
ORPHA:158775 - Disease-causing somatic mutation(s) in Systemic mastocytosis with associated hematologic neoplasm
ORPHA:98849 - Disease-causing somatic mutation(s) in Testicular seminomatous germ cell tumor
ORPHA:842 - Biomarker tested in Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
ORPHA:98829 - Biomarker tested in Acute myeloid leukemia with t(8;21)(q22;q22) translocation
ORPHA:102724 - Candidate gene tested in Selection of therapeutic option in melanoma
ORPHA:544260
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.