KIT (KIT proto-oncogene, receptor tyrosine kinase)

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Gene: KIT (KIT proto-oncogene, receptor tyrosine kinase) Homo sapiens

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Symbol:

KIT

Name:

KIT proto-oncogene, receptor tyrosine kinase

RGD ID:

731382

HGNC Page

HGNC:6342

Description:

Enables cytokine binding activity; protein homodimerization activity; and transmembrane receptor protein tyrosine kinase activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of macromolecule metabolic process; and positive regulation of signal transduction. Located in extracellular space; fibrillar center; and plasma membrane. Implicated in several diseases, including gastrointestinal stromal tumor; germ cell cancer (multiple); mastocytosis; piebaldism; and renal cell carcinoma. Biomarker of several diseases, including Hirschsprung's disease; invasive ductal carcinoma; oxyphilic adenoma; reproductive organ cancer (multiple); and urinary system cancer (multiple).

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C-Kit; c-Kit protooncogene; CD117; KIT proto-oncogene receptor tyrosine kinase; mast/stem cell growth factor receptor; mast/stem cell growth factor receptor Kit; MASTC; p145 c-kit; PBT; piebald trait; piebald trait protein; proto-oncogene c-Kit; proto-oncogene tyrosine-protein kinase Kit; SCFR; soluble KIT variant 1; tyrosine-protein kinase Kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	54,657,957 - 54,740,715 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	4	54,657,267 - 54,740,783 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	55,524,124 - 55,606,881 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	55,218,852 - 55,301,638 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	55,365,088 - 55,447,783	NCBI
Celera	4	53,026,240 - 53,109,027 (+)	NCBI		Celera
Cytogenetic Map	4	q12	NCBI
HuRef	4	51,471,979 - 51,554,769 (+)	NCBI		HuRef
CHM1_1	4	55,559,642 - 55,642,426 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	58,146,698 - 58,229,411 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar