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Aliases for KIT Gene

Aliases for KIT Gene

  • KIT Proto-Oncogene Receptor Tyrosine Kinase 2 3
  • V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog 2 3 4 5
  • Tyrosine-Protein Kinase Kit 3 4
  • Piebald Trait Protein 3 4
  • Proto-Oncogene C-Kit 3 4
  • EC 2.7.10.1 4 63
  • 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
  • Soluble KIT Variant 1 3
  • Piebald Trait 2
  • CD117 Antigen 4
  • EC 2.7.10 63
  • 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]

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 Signaling by GPCR and Immune System. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is FGFR1.

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

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

Genomics for KIT Gene

Regulatory Elements for KIT Gene

Promoters for KIT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIT on UCSC Golden Path with GeneCards custom track

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

Proteomics data for KIT Gene at MOPED

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 Asn 130, Asn 145, Asn 283, Asn 293, Asn 300, Asn 320, Asn 352, Asn 367, Asn 463, and Asn 486
  • Modification sites at PhosphoSitePlus

Other Protein References for KIT Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

Assay Products

Domains & Families for KIT Gene

Graphical View of Domain Structure for InterPro Entry

P10721

UniProtKB/Swiss-Prot:

KIT_HUMAN :
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 protein kinase domain.
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

Gene Ontology (GO) - Molecular Function for KIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,TAS 1717985
genes like me logo Genes that share ontologies with KIT: view

Phenotypes for KIT Gene

GenomeRNAi human phenotypes for KIT:
MGI mutant phenotypes for KIT:
inferred from 112 alleles
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 tm1Alf
  • Kit tm1.1(cre)Jmol
  • Kit tm2.1(cre/Esr1*)Jmol
  • Kit tm1Rosay
  • Kit tm1.1Sraf

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for KIT Gene COMPARTMENTS Subcellular localization image for KIT gene
Compartment Confidence
extracellular 5
plasma membrane 5
lysosome 4
vacuole 4
cytoskeleton 3
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
golgi apparatus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for KIT Gene

Pathways & Interactions for KIT Gene

SuperPathways for KIT Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 PI3K events in ERBB4 signaling
3 Apoptotic Pathways in Synovial Fibroblasts
4 GPCR Pathway
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:0000186 activation of MAPKK activity TAS --
GO:0001541 ovarian follicle development IEA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma inhibitor, Target, antagonist 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 486
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 268
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 671
Nilotinib Approved, Investigational Pharma Inhibition, inhibitor, Target, antagonist Kinase Inhibitors 0

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

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

Transcripts for KIT Gene

Unigene Clusters for KIT Gene

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

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 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, MOPED, and MaxQB for KIT Gene



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.
genes like me logo Genes that share expression patterns with KIT: view

Primer Products

In Situ Assay 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 36
  • 100 (a)
OneToOne
KIT 35
  • 99.55 (n)
  • 99.69 (a)
cow
(Bos Taurus)
Mammalia KIT 35
  • 87.88 (n)
  • 89.96 (a)
KIT 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIT 36
  • 89 (a)
OneToOne
KIT 35
  • 88.34 (n)
  • 88.58 (a)
mouse
(Mus musculus)
Mammalia Kit 16
Kit 35
  • 82.89 (n)
  • 82.96 (a)
Kit 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIT 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIT 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kit 35
  • 83.2 (n)
  • 84.19 (a)
chicken
(Gallus gallus)
Aves KIT 35
  • 69.57 (n)
  • 67.05 (a)
KIT 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIT 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia kit-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kit 35
  • 63.12 (n)
  • 59.35 (a)
Str.17605 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
kita 35
  • 55.59 (n)
  • 51.08 (a)
kita 36
  • 48 (a)
OneToMany
kitb 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3277 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea kin-16 37
  • 31 (a)
old-1 37
  • 45 (a)
old-2 37
  • 43 (a)
ver-2 37
  • 39 (a)
Y50D4B.6 37
  • 28 (a)
Species with no ortholog for KIT:
  • 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

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
rs8022 -- 54,740,261(+) GGGTT(G/T)TGTTG utr-variant-3-prime
rs1079710 -- 54,711,526(+) AACAT(C/T)AAGTA intron-variant
rs1079711 -- 54,711,529(+) ATCAA(G/T)TATTA intron-variant
rs1079712 -- 54,711,542(+) TGAGT(C/T)CCAGC intron-variant
rs999020 -- 54,658,137(+) GTGCC(C/T)GGGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv526344 CNV Gain 19592680
esv275209 CNV Gain+Loss 21479260
esv275029 CNV Gain+Loss 21479260
esv2727617 CNV Deletion 23290073
esv2727619 CNV Deletion 23290073
dgv144n6 CNV Loss 16902084

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

HapMap Linkage Disequilibrium report
KIT
Human Gene Mutation Database (HGMD)
KIT

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

Disorders for KIT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gastrointestinal stromal tumor
  • gastrointestinal stromal tumor, familial
piebaldism
  • partial albinism
acute myeloblastic leukemia with maturation
  • acute myeloblastic leukemia m2
mast cell disease
  • mastocytosis
testicular germ cell tumor
  • male germ cell tumor, somatic
- 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
  • 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.
  • 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.
  • 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.
  • 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.

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 23 67
  2. Sorafenib inhibits imatinib-resistant KIT and platelet-derived growth factor receptor beta gatekeeper mutants. (PMID: 17545544) Guida T. … Carlomagno F. (Clin. Cancer Res. 2007) 3 23 25 26
  3. Combined targeted therapies in non-small cell lung cancer: a winner strategy? (PMID: 17272980) Cascone T. … Ciardiello F. (Curr Opin Oncol 2007) 23 25 26
  4. The ability of sorafenib to inhibit oncogenic PDGFRbeta and FLT3 mutants and overcome resistance to other small molecule inhibitors. (PMID: 17229632) Lierman E. … Cools J. (Haematologica 2007) 23 25 26
  5. Sunitinib: a VEGF and PDGF receptor protein kinase and angiogenesis inhibitor. (PMID: 17367763) Roskoski R. (Biochem. Biophys. Res. Commun. 2007) 23 25 26

Products for KIT Gene

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