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KIT Gene(Protein Coding)

KIT Proto-Oncogene Receptor Tyrosine Kinase

GCID:
GC04P054657
GIFtS:
60
Genes Participants
UDN Logo

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
  • 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
  • CD117 Antigen 4
  • Piebald Trait 2
  • EC 2.7.10.1 4
  • 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 Piebald Trait and Gastrointestinal Stromal Tumor. Among its related pathways are ERK Signaling and Gene Expression. Gene Ontology (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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KIT Gene

Promoters and enhancers for KIT Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J054658 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.9 939 3.1 ATF1 SIN3A FEZF1 GLI4 ZNF2 GLIS2 ARID2 SP3 REST ZNF610 KIT LOC105377657
GH04J054657 Enhancer 0.4 ENCODE 650.7 -0.6 -620 0 POLR2A EZH2 KIT PIR51098 GC04P054635
GH04J054571 Enhancer 1.2 FANTOM5 ENCODE 37.9 -86.4 -86367 0.9 SMAD1 ATF1 ARNT FEZF1 NCOA2 TCF12 ZNF766 CBX5 GATA2 ZFP91 KIT GC04P054597 ENSG00000251264
GH04J054660 Enhancer 1 FANTOM5 Ensembl ENCODE 31.1 +3.6 3563 1.9 PKNOX1 SMAD5 CEBPB ZMYM3 ZNF664 ATF4 JUND POLR2A ZFP36 FOS KIT LOC105377657
GH04J054539 Enhancer 1.2 FANTOM5 Ensembl ENCODE 24.6 -118.2 -118217 1 HDAC1 CTCF MXI1 PKNOX1 SIN3A ZIC2 ZFHX2 EGR1 POLR2A PRDM10 KIT GC04P054597 ENSG00000251264
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIT gene promoter:
  • STAT3
  • p53
  • c-Myc
  • Max1
  • AREB6
  • GCNF
  • GCNF-1
  • GCNF-2
  • RelA
  • MEF-2A

Genomic Locations for KIT Gene

Genomic Locations for KIT Gene
chr4:54,657,918-54,740,715
(GRCh38/hg38)
Size:
82,798 bases
Orientation:
Plus strand
chr4:55,524,085-55,606,881
(GRCh37/hg19)
Size:
82,797 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 Structure • Gene Density

RefSeq DNA sequence for KIT Gene

Proteins for KIT Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for KIT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KIT Gene

  • Ubiquitinated by SOCS6. KIT is rapidly ubiquitinated after autophosphorylation induced by KITLG/SCF binding, leading to internalization and degradation.
  • 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.
  • Glycosylation at isoforms=2486, Asn463, Asn367, Asn352, isoforms=2, 3320, Asn300, isoforms=2, 3293, Asn283, Asn145, and Asn130
  • Modification sites at PhosphoSitePlus

Other Protein References for KIT Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for KIT

No data available for DME Specific Peptides for KIT Gene

Domains & Families for KIT Gene

Gene Families for KIT Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for KIT Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIT Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KIT Gene

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 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 Induction:
Up-regulated by cis-retinoic acid in neuroblastoma cell lines.
GENATLAS Biochemistry:
Hardy-Zuckerman 4 feline sarcoma viral (v-kit or c-kit) oncogene homolog,homologous to murine dominant spotting,involved in melanogenesis

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:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity TAS 1717985
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 Kit<tm2.1(cre/Esr1*)Jmol>
  • Kit Kit<tm1.1(cre)Jmol>
  • Kit Kit<tm1Alf>
  • Kit Kit<tm1Rosay>
  • Kit Kit<tm1.1Sraf>

Animal Model Products

Clone Products

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 IBA,IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
genes like me logo Genes that share ontologies with KIT: view

Pathways & Interactions for KIT Gene

SuperPathways for KIT Gene

PathCards logo More details on SuperPathways for KIT
SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Nuclear Receptor Activation by Vitamin-A
.57
3 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
4 PI3K/AKT activation
Negative regulation of the PI3K/AKT network
.93
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
.93
PIP3 activates AKT signaling
.91
Role of LAT2/NTAL/LAB on calcium mobilization
.91
GAB1 signalosome
.89
PI3K/AKT activation
.89
Constitutive Signaling by Aberrant PI3K in Cancer
.75
PI3K/AKT Signaling in Cancer
.72
5 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
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

Products:

  1. Drug

(119) 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 518
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 295
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 717
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: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
N-desmethylimatinib
  • CGP74588
genes like me logo Genes that share compounds with KIT: view

Transcripts for KIT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KIT Gene

(8) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(95) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KIT Gene

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

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for KIT Gene
mRNA expression by BioGPS for KIT GenemRNA expression by GTEx 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, 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(2.9)
  • Liver(2.8)
  • Lung(2.8)
  • Spleen(2.6)
  • Lymph node(2.5)
  • Thyroid gland(2.5)
  • Gall bladder(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
Regions:
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

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 34 33
  • 99.55 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia KIT 34 33
  • 88.34 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KIT 34 33
  • 87.88 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Kit 33
  • 83.2 (n)
mouse
(Mus musculus)
 Mammalia Kit 16 34 33
  • 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 34 33
  • 69.57 (n)
 OneToOne
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 34 33
  • 55.59 (n)
 OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for KIT: view image

Paralogs for KIT Gene

Paralogs for KIT Gene

(45) SIMAP similar genes for KIT Gene using alignment to 10 proteins:

  • KIT_HUMAN
  • B6DXN3_HUMAN
  • B6E0M6_HUMAN
  • D5MAV8_HUMAN
  • D5MAV9_HUMAN
  • E2I6G0_HUMAN
  • L8E780_HUMAN
  • Q15999_HUMAN
  • Q8TCG9_HUMAN
  • Q9UMA0_HUMAN
genes like me logo Genes that share paralogs with KIT: view

Variants for KIT Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for KIT Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000138811 uncertain-significance, Gastrointestinal stromal tumor 54,737,249(+) T/C coding_sequence_variant, missense_variant
rs1003144287 uncertain-significance, Gastrointestinal stromal tumor 54,698,380(+) A/G coding_sequence_variant, missense_variant
rs1016976398 uncertain-significance, Gastrointestinal stromal tumor 54,727,468(+) A/G coding_sequence_variant, missense_variant
rs1025892108 likely-benign, Gastrointestinal stromal tumor 54,727,493(+) A/G coding_sequence_variant, synonymous_variant
rs1032761406 uncertain-significance, Gastrointestinal stromal tumor 54,727,927(+) C/A/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for KIT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KIT Gene

MalaCards: The human disease database

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