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KIT |
Gene Facts External Data Attribution
- HGNC Symbol
- KIT (HGNC:6342) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- KIT proto-oncogene, receptor tyrosine kinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PBT
- Alias symbols
- CD117, SCFR, C-Kit
- %HI
- 8.78(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.24(Read more about gnomAD LOEUF score)
- Cytoband
- 4q12
- Genomic Coordinates
-
GRCh37/hg19: chr4:55524124-55606881 NCBI Ensembl UCSC GRCh38/hg38: chr4:54657957-54740715 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000222.3 ENST00000288135.6 (Read more about MANE Select)
- Function
- Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulator... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29633
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)
