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Aliases for KIT Gene

Aliases for KIT Gene

  • KIT Proto-Oncogene Receptor Tyrosine Kinase 2 3 5
  • V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog 2 3 4
  • Tyrosine-Protein Kinase Kit 3 4
  • Piebald Trait Protein 3 4
  • Proto-Oncogene C-Kit 3 4
  • EC 2.7.10.1 4 58
  • P145 C-Kit 3 4
  • SCFR 3 4
  • PBT 3 4
  • V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene-Like Protein 3
  • Proto-Oncogene Tyrosine-Protein Kinase Kit 3
  • Mast/Stem Cell Growth Factor Receptor Kit 3
  • Soluble KIT Variant 1 3
  • C-Kit Protooncogene 3
  • Piebald Trait 2
  • CD117 Antigen 4
  • EC 2.7.10 58
  • C-Kit 3
  • CD117 3

External Ids for KIT Gene

Previous HGNC Symbols for KIT Gene

  • PBT

Previous GeneCards Identifiers for KIT Gene

  • GC04P055328
  • GC04P055485
  • GC04P055439
  • GC04P055365
  • GC04P055218
  • GC04P051471
  • GC04P055524

Summaries for KIT Gene

Entrez Gene Summary for KIT Gene

  • This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CIViC summary for KIT Gene

  • c-KIT activation has been shown to have oncogenic activity in gastrointestinal stromal tumors (GISTs), melanomas, lung cancer, and other tumor types. The targeted therapeutics nilotinib and sunitinib have shown efficacy in treating KIT overactive patients, and are in late-stage trials in melanoma and GIST. KIT overactivity can be the result of many genomic events from genomic amplification to overexpression to missense mutations. Missense mutations have been shown to be key players in mediating clinical response and acquired resistance in patients being treated with these targeted therapeutics.

GeneCards Summary for KIT Gene

KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with KIT include Gastrointestinal Stromal Tumor and Piebaldism. Among its related pathways are Hematopoietic cell lineage and RET signaling. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is CSF1R.

UniProtKB/Swiss-Prot for KIT Gene

  • Tyrosine-protein kinase that acts as 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 regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.

Gene Wiki entry for KIT Gene

PharmGKB "VIP" Summary for KIT Gene

Additional gene information for KIT Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for KIT Gene

Genomics for KIT Gene

Regulatory Elements for KIT Gene

Enhancers for KIT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H054571 1.3 FANTOM5 ENCODE 37.9 -86.4 -86367 0 ATF1 ARNT FEZF1 TCF12 ZNF766 CBX5 GATA2 ELK1 ATF7 NCOA1 KIT GC04P054597 ENSG00000251264
GH04H054660 1.1 FANTOM5 Ensembl ENCODE 31.1 +3.6 3563 1 PKNOX1 SMAD5 CEBPB ZMYM3 ZNF664 JUND POLR2A FOS KIT LOC105377657
GH04H054539 1.3 FANTOM5 Ensembl ENCODE 24.6 -118.2 -118218 1 HDAC1 PKNOX1 MXI1 SP3 SIN3A ZIC2 ZFHX2 POLR2A EGR1 ZNF341 KIT GC04P054597 ENSG00000251264
GH04H054588 1.3 FANTOM5 ENCODE 22.2 -69.4 -69388 0 HDAC1 PKNOX1 TBL1XR1 ARNT CHAMP1 TCF12 ZNF766 GATA2 ELK1 FOS KIT GC04P054597 ENSG00000251264
GH04H054585 1.2 FANTOM5 ENCODE 23.9 -71.5 -71496 1 HDAC1 LEF1 JUN ZNF175 FEZF1 RELA FOSL1 ZNF766 GATA3 ZSCAN5C KIT GC04P054597 ENSG00000251264
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIT on UCSC Golden Path with GeneCards custom track

Promoters for KIT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000168520 582 1401 ATF1 RB1 ZNF76 KLF17 FEZF1 GLI4 ZNF2 RAD21 BRCA1 GLIS2

Genomic Location for KIT Gene

Chromosome:
4
Start:
54,657,918 bp from pter
End:
54,740,715 bp from pter
Size:
82,798 bases
Orientation:
Plus strand

Genomic View for KIT Gene

Genes around KIT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIT Gene

Proteins for KIT Gene

  • Protein details for KIT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10721-KIT_HUMAN
    Recommended name:
    Mast/stem cell growth factor receptor Kit
    Protein Accession:
    P10721
    Secondary Accessions:
    • B5A956
    • D5LXN2
    • D5M931
    • F5H8F8
    • Q6IQ28
    • Q99662
    • Q9UM99

    Protein attributes for KIT Gene

    Size:
    976 amino acids
    Molecular mass:
    109865 Da
    Quaternary structure:
    • Monomer in the absence of bound KITLG/SCF. Homodimer in the presence of bound KITLG/SCF, forming a heterotetramer with two KITLG/SCF molecules. Interacts (via phosphorylated tyrosine residues) with the adapter proteins GRB2 and GRB7 (via SH2 domain), and SH2B2/APS. Interacts (via C-terminus) with MPDZ (via the tenth PDZ domain). Interacts (via phosphorylated tyrosine residues) with PIK3R1 and PIK3 catalytic subunit. Interacts (via phosphorylated tyrosine) with CRK (isoform Crk-II), FYN, SHC1 and MATK/CHK (via SH2 domain). Interacts with LYN and FES/FPS. Interacts (via phosphorylated tyrosine residues) with the protein phosphatases PTPN6/SHP-1 (via SH2 domain), PTPN11/SHP-2 (via SH2 domain) and PTPRU. Interacts with PLCG1. Interacts with DOK1 and TEC. Interacts (KITLG/SCF-bound) with IL1RL1. Interacts with IL1RAP (independent of stimulation with KITLG/SCF). A mast cell-specific KITLG/SCF-induced interleukin-33 signaling complex contains IL1RL1, IL1RAP, KIT and MYD88.
    Miscellaneous:
    • Numerous proteins are phosphorylated in response to KIT signaling, but it is not evident to determine which are directly phosphorylated by KIT under in vivo conditions.

    Three dimensional structures from OCA and Proteopedia for KIT Gene

    Alternative splice isoforms for KIT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIT Gene

Selected DME Specific Peptides for KIT Gene

P10721:
  • EGGTYTF
  • ALYKNLL
  • TDKWEDYPKS
  • SIYVFVRDP
  • EDDELALD
  • RDLAARN
  • VAVKMLK
  • IDPTQLPY
  • LPVKWMA
  • DPGFVKWTFE
  • KGNARLP
  • LVRCPLTDPEVTNYSL
  • NIVNLLGACT
  • SDVWSYGI
  • VSYVVPTK
  • ALMSELK
  • CVYTFESDVWSYGI
  • YKYLQKP
  • KICDFGLARD
  • HIYSNLANC
  • KWMAPESIF
  • SPEHAPAEMYD
  • FSLGSSPYPGMPVDSKFYKMIKEG
  • EYCCYGDLLN
  • NEYMDMKPGVSY
  • AGFPEPT
  • NGMLQCV
  • GAFGKVVEATA
  • HNGTVEC
  • QWIYMNRT
  • GFPEPTIDWYFC
  • PVKWMAPE
  • YHRLCLHCS
  • GGPTLVITEYCC
  • MCIIVMIL
  • DFGLARDI
  • DYPKSENESNIRYV
  • WYFCPGTEQRC
  • IKDVSSSV
  • MKTCWDADPLKRPTFKQ

Post-translational modifications for KIT Gene

  • Autophosphorylated on tyrosine residues. KITLG/SCF binding enhances autophosphorylation. Isoform 1 shows low levels of tyrosine phosphorylation in the absence of added KITLG/SCF (in vitro). Kinase activity is down-regulated by phosphorylation on serine residues by protein kinase C family members. Phosphorylation at Tyr-568 is required for interaction with PTPN11/SHP-2, CRK (isoform Crk-II) and members of the SRC tyrosine-protein kinase family. Phosphorylation at Tyr-570 is required for interaction with PTPN6/SHP-1. Phosphorylation at Tyr-703, Tyr-823 and Tyr-936 is important for interaction with GRB2. Phosphorylation at Tyr-721 is important for interaction with PIK3R1. Phosphorylation at Tyr-823 and Tyr-936 is important for interaction with GRB7.
  • Ubiquitinated by SOCS6. KIT is rapidly ubiquitinated after autophosphorylation induced by KITLG/SCF binding, leading to internalization and degradation.
  • Glycosylation at posLast=130130, posLast=145145, posLast=283283, posLast=293293, isoforms=2, 3300, isoforms=2, 3320, posLast=352352, isoforms=2, 3367, isoforms=2463, and posLast=486486
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KIT (Kit)
  • Abcam antibodies for KIT

Assay Products

  • Abcam assays for KIT

Domains & Families for KIT Gene

Gene Families for KIT Gene

Graphical View of Domain Structure for InterPro Entry

P10721

UniProtKB/Swiss-Prot:

KIT_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
genes like me logo Genes that share domains with KIT: view

Function for KIT Gene

Molecular function for KIT Gene

GENATLAS Biochemistry:
Hardy-Zuckerman 4 feline sarcoma viral (v-kit or c-kit) oncogene homolog,homologous to murine dominant spotting,involved in melanogenesis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Present in an inactive conformation in the absence of bound ligand. KITLG/SCF binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Activity is down-regulated by PRKCA-mediated phosphorylation on serine residues. Inhibited by imatinib/STI-571 (Gleevec) and sunitinib; these compounds maintain the kinase in an inactive conformation.
UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that acts as 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 regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.
UniProtKB/Swiss-Prot Induction:
Up-regulated by cis-retinoic acid in neuroblastoma cell lines.

Enzyme Numbers (IUBMB) for KIT Gene

Phenotypes From GWAS Catalog for KIT Gene

Gene Ontology (GO) - Molecular Function for KIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0002020 protease binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS 1717985
GO:0004714 transmembrane receptor protein tyrosine kinase activity IDA 21640708
genes like me logo Genes that share ontologies with KIT: view

Phenotypes for KIT Gene

MGI mutant phenotypes for KIT:
inferred from 112 alleles
GenomeRNAi human phenotypes for KIT:
genes like me logo Genes that share phenotypes with KIT: view

Human Phenotype Ontology for KIT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIT Gene

MGI Knock Outs for KIT:
  • Kit tm1Rosay
  • Kit tm1Alf
  • Kit tm2.1(cre/Esr1*)Jmol
  • Kit tm1.1(cre)Jmol
  • Kit tm1.1Sraf

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for KIT Gene

Localization for KIT Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIT Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Cell membrane; Single-pass type I membrane protein.
Isoform 3: Cytoplasm. Note=Detected in the cytoplasm of spermatozoa, especially in the equatorial and subacrosomal region of the sperm head.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIT gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
lysosome 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005615 extracellular space IDA 14625290
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with KIT: view

Pathways & Interactions for KIT Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 GPCR Pathway
4 PI3K/AKT activation
5 ERK Signaling
genes like me logo Genes that share pathways with KIT: view

SIGNOR curated interactions for KIT Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000187 activation of MAPK activity IDA 21640708
GO:0001541 ovarian follicle development ISS --
GO:0002318 myeloid progenitor cell differentiation IEA --
GO:0002320 lymphoid progenitor cell differentiation IEA --
genes like me logo Genes that share ontologies with KIT: view

Drugs & Compounds for KIT Gene

(117) Drugs for KIT Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma inhibitor, Target VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors, Potent VEGFR, PDGFRbeta and KIT inhibitor 514
imatinib Approved Pharma inhibitor, Target, antagonist, multitarget Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Dasatinib Approved, Investigational Pharma Inhibition, inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 289
Sorafenib Approved, Investigational Pharma inhibitors, inhibitor, Target, antagonist Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 708
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0

(42) Additional Compounds for KIT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
N-desmethylimatinib
  • CGP74588

(32) ApexBio Compounds for KIT Gene

Compound Action Cas Number
Amuvatinib (MP-470, HPK 56) Tyrosine kinase inhibitor 850879-09-3
Apatinib VEGFR2 inhibitor, orally bioavailable, selective 811803-05-1
Axitinib (AG 013736) VEGFR1/ c-Kit inhibitor 319460-85-0
AZD2932 inhibitor of VEGFR-2, PDGFRβ, Flt-3, and c-Kit 883986-34-3
Cabozantinib (XL184, BMS-907351) VEGFR2/Met/Ret/Kit/FLT//AXL inhibitor 849217-68-1
DCC-2618 C-Kit/PDGFR inhibtor 1225278-16-9
Dovitinib (TKI-258, CHIR-258) Multitargeted RTK inhibitor 405169-16-6
Dovitinib Dilactic acid 852433-84-2
Imatinib (STI571) Protein-tyrosine kinase inhibitor 152459-95-5
Imatinib hydrochloride V-Abl/c-Kit/PDGFR inhibitor 862366-25-4
Imatinib Mesylate (STI571) Abl/c-kit/PDGFR inhibitor 220127-57-1
Linifanib (ABT-869) VEGFR/PDGFR inhibitor 796967-16-3
Masitinib (AB1010) Tyrosine kinase inhibitor, potent and selective 790299-79-5
Motesanib Inhibitor of Flk-1/Flt-4/PDGFR-/c-Kit 453562-69-1
Motesanib Diphosphate (AMG-706) VEGFR/ PDGFR/c-Kit/Ret inhibitor 857876-30-3
N-Desethyl Sunitinib VEGFR/PDGFRβ/KIT inhibitor 356068-97-8
OSI-930 Inhibitor of Kit, KDR, Flt, CSF-1R, c-Raf and Lck 728033-96-3
Pazopanib (GW-786034) VEGFR/PDGFR/FGFR inhibitor 635702-64-6
Pazopanib Hydrochloride VEGFR/PDGFR/FGFR/c-Kit/ c-Fms inhibitor 635702-64-6
Regorafenib Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1 755037-03-7
SU14813 Tyrosine kinase inhibitor 627908-92-3
SU14813 double bond Z Tyrosine kinase inhibitor 452105-23-6
SU14813 maleate VEGFR/PDGFR/Kit/FLT-3 inhibitor 849643-15-8
SU5416 VEGF receptor inhibitor and AHR agonist 204005-46-9
Sunitinib RTK inhibitor 557795-19-4
Sunitinib malate VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor 341031-54-7
Telatinib (BAY 57-9352) VEGFR-2/-3,PDGFR-β and c-Kit inhibitor 332012-40-5
TG 100801 Multi-kinase inhibitor 867331-82-6
TG 100801 Hydrochloride VEGFr2 inhibitor 1018069-81-2
Toceranib c-Kit/VEGFR/PDGFR inhibtor 356068-94-5
Toceranib phosphate c-Kit/VEGFR/PDGFR inhibtor 874819-74-6
Vatalanib (PTK787) 2HCl Tyrosine kinase receptor inhibitor 212141-51-0
genes like me logo Genes that share compounds with KIT: view

Drug Products

Transcripts for KIT Gene

Unigene Clusters for KIT Gene

V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KIT Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^
SP1: - - -
SP2: -
SP3:
SP4: -
SP5:
SP6:

ExUns: 18 ^ 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for KIT Gene

GeneLoc Exon Structure for
KIT
ECgene alternative splicing isoforms for
KIT

Expression for KIT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIT Gene

This gene is overexpressed in Serum (54.3) and Plasma (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIT Gene



NURSA nuclear receptor signaling pathways regulating expression of KIT Gene:

KIT

SOURCE GeneReport for Unigene cluster for KIT Gene:

Hs.479754

mRNA Expression by UniProt/SwissProt for KIT Gene:

P10721-KIT_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are detected in spermatogonia and Leydig cells. Isoform 3 is detected in round spermatids, elongating spermatids and spermatozoa (at protein level). Widely expressed. Detected in the hematopoietic system, the gastrointestinal system, in melanocytes and in germ cells.

Evidence on tissue expression from TISSUES for KIT Gene

  • Bone marrow(4.7)
  • Nervous system(4.7)
  • Blood(3.3)
  • Skin(3.2)
  • Stomach(3.2)
  • Intestine(3.1)
  • Muscle(3.1)
  • Heart(2.8)
  • Liver(2.8)
  • Lung(2.8)
  • Spleen(2.6)
  • Lymph node(2.5)
  • Gall bladder(2.4)
  • Thyroid gland(2.4)
  • Kidney(2.3)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • pharynx
  • pituitary gland
  • sinus
  • skull
Thorax:
  • breast
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with KIT: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for KIT Gene

Orthologs for KIT Gene

This gene was present in the common ancestor of animals.

Orthologs for KIT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIT 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia KIT 33 34
  • 88.34 (n)
cow
(Bos Taurus)
Mammalia KIT 33 34
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Kit 33
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Kit 33 16 34
  • 82.89 (n)
oppossum
(Monodelphis domestica)
Mammalia KIT 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIT 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIT 33 34
  • 69.57 (n)
lizard
(Anolis carolinensis)
Reptilia KIT 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kit 33
  • 63.12 (n)
Str.17605 33
African clawed frog
(Xenopus laevis)
Amphibia kit-A 33
zebrafish
(Danio rerio)
Actinopterygii kita 33 34
  • 55.59 (n)
kitb 34
  • 46 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG3277 35
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea old-1 35
  • 45 (a)
old-2 35
  • 43 (a)
ver-2 35
  • 39 (a)
kin-16 35
  • 31 (a)
Y50D4B.6 35
  • 28 (a)
Species where no ortholog for KIT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIT Gene

ENSEMBL:
Gene Tree for KIT (if available)
TreeFam:
Gene Tree for KIT (if available)

Paralogs for KIT Gene

Paralogs for KIT Gene

genes like me logo Genes that share paralogs with KIT: view

Variants for KIT Gene

Sequence variations from dbSNP and Humsavar for KIT Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs121913506 Pathogenic, Acute myeloid leukemia, A germ cell tumor of the testis 54,733,154(+) CCAGA(C/G/T)ACATC reference, missense
rs121913507 Pathogenic, Mast cell leukemia 54,733,155(+) CAGAG(A/T)CATCA reference, missense
rs121913514 A germ cell tumor of the testis 54,733,174(+) TCTAA(A/T)TATGT reference, missense
rs121913517 Pathogenic, Gastrointestinal stromal tumor (GIST) [MIM:606764], Gastrointestinal stromal tumor (GIST) [MIM:606764] 54,727,444(+) GAAGG(A/C/G/T)TGTTG reference, missense
rs121913679 Pathogenic, Piebald trait (PBT) [MIM:172800] 54,728,121(+) TTGGA(A/G)GTAAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KIT Gene

Variant ID Type Subtype PubMed ID
dgv144n6 CNV deletion 16902084
dgv5210n100 CNV gain 25217958
dgv5211n100 CNV gain 25217958
esv2727617 CNV deletion 23290073
esv2727619 CNV deletion 23290073
esv275029 CNV gain+loss 21479260
esv275209 CNV gain+loss 21479260
esv2763362 CNV loss 21179565
esv3569427 CNV loss 25503493
nsv1003338 CNV gain 25217958
nsv1009516 CNV gain 25217958
nsv1136855 CNV deletion 24896259
nsv526344 CNV gain 19592680
nsv997430 CNV loss 25217958
nsv997954 CNV loss 25217958

Variation tolerance for KIT Gene

Residual Variation Intolerance Score: 3.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIT Gene

Human Gene Mutation Database (HGMD)
KIT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIT Gene

Disorders for KIT Gene

MalaCards: The human disease database

(219) MalaCards diseases for KIT Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastrointestinal stromal tumor
  • paraganglioma and gastric stromal sarcoma
piebaldism
  • partial albinism
mast cell disease
  • mastocytosis
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
systemic mastocytosis
  • smcd - systemic mast cell disease
- elite association - COSMIC cancer census association via MalaCards
Search KIT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIT_HUMAN
  • Gastrointestinal stromal tumor (GIST) [MIM:606764]: Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. {ECO:0000269 PubMed:11505412, ECO:0000269 PubMed:15824741, ECO:0000269 PubMed:9438854, ECO:0000269 PubMed:9697690}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. Note=The gene represented in this entry is involved in disease pathogenesis. Somatic mutations that lead to constitutive activation of KIT are detected in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the kinase domain can result in a constitutively activated kinase.
  • Piebald trait (PBT) [MIM:172800]: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. {ECO:0000269 PubMed:11074500, ECO:0000269 PubMed:1370874, ECO:0000269 PubMed:1376329, ECO:0000269 PubMed:1717985, ECO:0000269 PubMed:7687267, ECO:0000269 PubMed:8680409, ECO:0000269 PubMed:9450866, ECO:0000269 PubMed:9699740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for KIT

Genetic Association Database (GAD)
KIT
Human Genome Epidemiology (HuGE) Navigator
KIT
Tumor Gene Database (TGDB):
KIT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIT
genes like me logo Genes that share disorders with KIT: view

No data available for Genatlas for KIT Gene

Publications for KIT Gene

  1. Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes. (PMID: 9027509) Andre C … Galibert F (Genomics 1997) 2 3 4 22 60
  2. Detection of KIT and FLT3 mutations in acute myeloid leukemia with different subtypes. (PMID: 20039765) Zaker F … Mohammadi M (Archives of Iranian medicine 2010) 3 22 45 60
  3. Function of activation loop tyrosine phosphorylation in the mechanism of c-Kit auto-activation and its implication in sunitinib resistance. (PMID: 20147452) DiNitto JP … Wu JC (Journal of biochemistry 2010) 3 4 22 60
  4. The D816V mutation of c-Kit circumvents a requirement for Src family kinases in c-Kit signal transduction. (PMID: 19265199) Sun J … Rönnstrand L (The Journal of biological chemistry 2009) 3 4 22 60
  5. Sunitinib treatment in pediatric patients with advanced GIST following failure of imatinib. (PMID: 19326424) Janeway KA … Demetri GD (Pediatric blood & cancer 2009) 3 22 45 60

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