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KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog)

Written1998-09Lidia Larizza, Alessandro Beghini
Medical Genetics, San Paolo School of Medicine, University of Milan Via A. di Rudini, 8, 20142 Milano, Italy
Updated2000-06Lidia Larizza, Alessandro Beghini
Medical Genetics, San Paolo School of Medicine, University of Milan Via A. di Rudini, 8, 20142 Milano, Italy
Updated2015-11Lars Rönnstrand
Division of Translational Cancer Research and, Lund Stem Cell Center, Lund University, Lund, Sweden. lars.ronnstrand@med.lu.se

(Note : for Links provided by Atlas : click)

Identity

Other namesSCFR (Stem Cell Factor Receptor)
CD117
HGNC (Hugo) KIT
LocusID (NCBI) 3815
Atlas_Id 127
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 55524095 and ends at 55606881 bp from pter ( according to hg19-Feb_2009)  [Mapping KIT.png]
Local_order centromere-PDGFRA -KIT-KDR-telomer
 
  KIT (4q12) - Courtesy Mariano Rocchi
Fusion genes
(updated 2016)
CNTRL (9q33.2) / KIT (4q12)KIT (4q12) / MAATS1 (3q13.33)KIT (4q12) / UGT2B7 (4q13.2)
RCOR1 (14q32.31) / KIT (4q12)

DNA/RNA

Description The KIT gene located on human chromsome 4q11 and contains 21 exons. Exon1 encodes the initation codon, exon 2-9 encodes the extracellular domain, exon 10 the transmembrane region and exons 11-21 the intracellular part.
Transcription The 5.23 kb mRNA is alternatively spliced into two isoforms differing in the presence or absence of exon 9. This splicing gives rise to KIT variants that differ by the presence or absence of the amino acid sequence GNNK (denoted KIT and KITA, respectively). In addition there is alterative splicing occurring in humans, but not in mice, giving rise of isoforms that differ by the presence or absence of a serine residue in the kinase insert region. In postmeiotic germ cells a shorter KIT transcript is expressed that gives rise to a truncated version of KIT (tr-KIT) containing part of the kinase domain and the C-terminal tail.

Protein

Description 976 aa; 145 kDa; type III receptor tyrosine kinase; glycoprotein; contains an extracellular domains with 5 Ig-like loops, a highly hydrophobic transmembrane domain (23 aa), and an intracellular domain with tyrosine kinase activity split by a kinase insert (KI) in an ATP-binding region and in the phosphotransferase domain. Tr-KIT does not contain the whole kinase domain and is therefore kinase inactive.
Expression Hematopoietic stem cells, mast cells, melanocytes, germ-cell lineages and ICCs (Interstitial cells of Cajal). Expression pattern in the mouse suggest that KIT may play a role in tissues such as nervous system, placenta, heart, lung and midgestational kidneys.
Localisation Plasma membrane. The truncated tr-KIT lacks the transmembrane domain and is hence not present at the plasma membrane.
Function KIT is a cell surface receptor with tyrosine kinase activity; binding of ligand KITLG (also denoted MGF or SCF) induces receptor dimerization, autophosphorylation and signal transduction via molecules containing SH2- domains. KIT signaling leads to cell proliferation, survival, migration and differentiation.
Homology with CSF-1R, PDGFRB, PDGFRA, and FLT3.
 
  Loss-of-function mutations.
 
  Gain-of-function mutations.

Mutations

Note See figures Loss-of-function mutations and Gain-of-function mutations.

Implicated in

Entity Piebaldism
Disease Autosomal dominant disorder of pigmentation; loss of function abnormalities of the KIT gene have been demonstrated in 59% of the typical patients.
  
Entity Familial Gastrointestinal Stromal Tumors and sporadic gastrointestinal stromal tumors (GISTs)
Disease GISTs are the most common mesenchymal tumors in the human digestive tract; they originate from KIT-expressing cells (ICCs). All GISTs express KIT which is frequently (80-85% of the cases) mutated in exon 11 encoding the juxtamembrane domain. However, also mutations in exon 9 (encoding the extracellular region) and 17 (encoding a region around the activation loop in the kinase domain) have been found. Most GIST cells produce SCF thus establishing autocrine stimulation.
  
Entity Systemic Mast Cell Disease (SMCD)
Disease Mast cell hyperplasia in the bone marrow, liver, spleen, lymph nodes, gastrointestinal tract and skin; gain of function mutations are detected in most patients. About 90% of patients with systemic mastocytosis have mutation in exon 17 in KIT, often Asp-816 is replaced with Val. In children with systemic mastocytosis the frequency of KIT mutations in exon 17 is lower (about 40%), but mutations in other KIT regions are found in 40% of the children, for example mutation in exon 8 and 9 (encoding Ig-like domain 5 in the extracellular region of KIT).
Prognosis The prognosis depends on the four clinical entities recognized: indolent form, form associated with hematologic disorder, aggressive SMCD and mast cell leukemia; leukemic transformation with mast cell involvement is characterized by rapid progression of disease with a survival time less than 1 year
Oncogenesis clinical features of malignant hematopoietic cell growth are influenced by the time, the location of c-kit mutative events, and the number of associated lesions.
  
Entity Small Cell Lung cancer (SCLC)
Disease KIT overexpression is found in 70% of SCLC patients. Co-expression ofKIT and SCF has been found to create an autocrine loop. The prognostic value of KIT expression is not clear.
  
Entity Testicular Carcinoma
Disease Activating mutations in KIT exon 17 is found in about 25% of seminomas. Often Asp-816 is replaced with a Val or His residue.
  
Entity Melanoma
Disease KIT is important for the development of melanocytes. The about 80% of melanomas contain BRAF mutations, but a subset contain activating KITmutations. Interestingly in acral melanomas (affecting foot soles or palms) there is a higher frequency of tumors with activating KIT mutations (20-25% of cases). Examples of KIT mutations found in melanoma are L576P (in exon 11) and K642E (in exon 13). Mutation in position 816 (in exon 17) has also been observed but is not so frequent occurring.
  
Entity Acute Myeloid Leukemia
Disease KIT expression can be found in about 85% of AML cells. KIT activation can occur by different mechanisms: 1) co-expression of SCF causing an autocrine loop 2) activating mutations in exon 17 affecting Asp-816 or Asn-822. Interestingly, KIT mutations occurs primarily in a subset of leukemias containing inv(16) or t(8;21), so-called core factor binding AML. Apart from exon 17 mutations, also internal tandem duplications in exon 11 have been described.
Prognosis Presence of D816V mutation in KIT is a poor prognostic factor.
  

To be noted

Loss of expression of KIT appears to be associated with progression of some tumors (melanoma) and autocrine/paracrine stimulation of the KIT/KITLG system may participate in human solid tumors such as lung, breast, testicular and gynecological malignancies.

Bibliography

Cloning and structural analysis of the human c-kit gene.
Vandenbark GR, deCastro CM, Taylor H, Dew-Knight S, Kaufman RE
Oncogene. 1992 ; 7 (7) : 1259-1266.
PMID 1377810
 
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.
Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, Falabella R, Gatto EM, Ishii N
American journal of human genetics. 1995 ; 56 (1) : 58-66.
PMID 7529964
 
Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm.
Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, Duffy T, Jacobs P, Tang LH, Modlin I
Nature genetics. 1996 ; 12 (3) : 312-314.
PMID 8589724
 
Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes.
Andre C, Hampe A, Lachaume P, Martin E, Wang XP, Manus V, Hu WX, Galibert F
Genomics. 1997 ; 39 (2) : 216-226.
PMID 9027509
 
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y
Science (New York, N.Y.). 1998 ; 279 (5350) : 577-580.
PMID 9438854
 
C-kit gene abnormalities in gastrointestinal stromal tumors (tumors of interstitial cells of Cajal.
Sakurai S, Fukasawa T, Chong JM, Tanaka A, Fukayama M
Japanese journal of cancer research : Gann. 1999 ; 90 (12) : 1321-1328.
PMID 10665649
 
c-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia.
Gari M, Goodeve A, Wilson G, Winship P, Langabeer S, Linch D, Vandenberghe E, Peake I, Reilly J
British journal of haematology. 1999 ; 105 (4) : 894-900.
PMID 10554798
 
Activating c-kit gene mutations in human germ cell tumors.
Tian Q, Frierson HF Jr, Krystal GW, Moskaluk CA
The American journal of pathology. 1999 ; 154 (6) : 1643-1647.
PMID 10362788
 
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, Heitjan D, Ma Y
Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (4) : 1609-1614.
PMID 9990072
 
KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors.
Lux ML, Rubin BP, Biase TL, Chen CJ, Maclure T, Demetri G, Xiao S, Singer S, Fletcher CD, Fletcher JA
The American journal of pathology. 2000 ; 156 (3) : 791-795.
PMID 10702394
 
C-kit mutations in core binding factor leukemias.
Beghini A, Peterlongo P, Ripamonti CB, Larizza L, Cairoli R, Morra E, Mecucci C
Blood. 2000 ; 95 (2) : 726-727.
PMID 10660321
 
Human malignant melanoma: detection of BRAF- and c-kit-activating mutations by high-resolution amplicon melting analysis.
Willmore-Payne C, Holden JA, Tripp S, Layfield LJ
Human Pathol 2005; 36(5):486-93.
PMID 15948115
 
Somatic activation of KIT in distinct subtypes of melanoma.
Curtin JA, Busam K, Pinkel D, Bastian BC
J Clin Oncol. 2006; 24:43406.
PMID 16908931
 
Targeting KIT in melanoma: A paradigm of molecular medicine and targeted therapeutics. Review
Woodman SE and Davies MA
Biochem Pharmacol 2010; 80(5):568-74.
PMID 20457136
 
Stem cell factor receptor/c-Kit: from basic science to clinical implications .
Lennartsson J and Rönnstrand L
Physiol Rev. 2012; 92(4):1619-49
PMID 23073628
 

Citation

This paper should be referenced as such :
Rönnstrand L
KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/KITID127.html
History of this paper:
Larizza, L ; Beghini, A. KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog). Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):1-3.
http://documents.irevues.inist.fr/bitstream/handle/2042/37473/09-1998-KITID127.pdf
Larizza, L ; Beghini, A. KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog). Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):96-98.
http://documents.irevues.inist.fr/bitstream/handle/2042/37632/06-2000-KITID127.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 8 ]
  11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
del(11)(p12p13) LMO2
i(17q) solely in myeloid malignancies
Systemic mast cell disease (SMCD)
t(3;21)(q26;q22) RUNX1/MECOM
t(4;5)(q21;q33) PRKG2/PDGFRB
t(4;22)(q12;q11) BCR/PDGFRA
+4 or trisomy 4

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 12 ]
  Soft Tissues: Desmoid-type fibromatosis
Gastric Tumors: an overview
Inflammatory fibroid polyps
Liver tumors: an overview
Testis: Germ cell tumors
Liver: Nested stromal epithelial tumor
Head and Neck: Primary oral mucosal melanoma
Ovary: Germ cell tumors
Lung: Pleuropulmonary blastoma
Head and Neck: Salivary gland tumors: an overview
Soft tissue tumors: an overview
Soft Tissues: Soft Tissue Leiomyosarcoma
Head and Neck: Thymus: Thymoma: an overview

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Familial /sporadic gastrointestinal stromal tumors (GISTs) Piebaldism

External links

Nomenclature
HGNC (Hugo)KIT   6342
Cards
AtlasKITID127
Entrez_Gene (NCBI)KIT  3815  KIT proto-oncogene receptor tyrosine kinase
AliasesC-Kit; CD117; PBT; SCFR
GeneCards (Weizmann)KIT
Ensembl hg19 (Hinxton)ENSG00000157404 [Gene_View]  chr4:55524095-55606881 [Contig_View]  KIT [Vega]
Ensembl hg38 (Hinxton)ENSG00000157404 [Gene_View]  chr4:55524095-55606881 [Contig_View]  KIT [Vega]
ICGC DataPortalENSG00000157404
TCGA cBioPortalKIT
AceView (NCBI)KIT
Genatlas (Paris)KIT
WikiGenes3815
SOURCE (Princeton)KIT
Genomic and cartography
GoldenPath hg19 (UCSC)KIT  -     chr4:55524095-55606881 +  4q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIT  -     4q12   [Description]    (hg38-Dec_2013)
EnsemblKIT - 4q12 [CytoView hg19]  KIT - 4q12 [CytoView hg38]
Mapping of homologs : NCBIKIT [Mapview hg19]  KIT [Mapview hg38]
OMIM154800   164920   172800   273300   606764   
Gene and transcription
Genbank (Entrez)AJ438313 AK304031 BC071593 CN414753 DC376760
RefSeq transcript (Entrez)NM_000222 NM_001093772
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_007456 NT_022853 NW_004929319
Consensus coding sequences : CCDS (NCBI)KIT
Cluster EST : UnigeneHs.479754 [ NCBI ]
CGAP (NCI)Hs.479754
Alternative Splicing GalleryENSG00000157404
Gene ExpressionKIT [ NCBI-GEO ]   KIT [ EBI - ARRAY_EXPRESS ]   KIT [ SEEK ]   KIT [ MEM ]
Gene Expression Viewer (FireBrowse)KIT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3815
GTEX Portal (Tissue expression)KIT
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10721 (Uniprot)
NextProtP10721  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10721
Splice isoforms : SwissVarP10721 (Swissvar)
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
PhosPhoSitePlusP10721
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    RECEPTOR_TYR_KIN_III (PS00240)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_sub    Ig_sub2    Immunoglobulin    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    SCGF_receptor    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_CSF1/PDGF_rcpt    Tyr_kinase_rcpt_3_CS   
Domain families : Pfam (Sanger)ig (PF00047)    Pkinase_Tyr (PF07714)   
Domain families : Pfam (NCBI)pfam00047    pfam07714   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  TyrKc (SM00219)  
DMDM Disease mutations3815
Blocks (Seattle)KIT
PDB (SRS)1PKG    1QZJ    1QZK    1R01    1T45    1T46    2E9W    2EC8    2IUH    2VIF    3G0E    3G0F    4HVS    4K94    4K9E    4PGZ    4U0I   
PDB (PDBSum)1PKG    1QZJ    1QZK    1R01    1T45    1T46    2E9W    2EC8    2IUH    2VIF    3G0E    3G0F    4HVS    4K94    4K9E    4PGZ    4U0I   
PDB (IMB)1PKG    1QZJ    1QZK    1R01    1T45    1T46    2E9W    2EC8    2IUH    2VIF    3G0E    3G0F    4HVS    4K94    4K9E    4PGZ    4U0I   
PDB (RSDB)1PKG    1QZJ    1QZK    1R01    1T45    1T46    2E9W    2EC8    2IUH    2VIF    3G0E    3G0F    4HVS    4K94    4K9E    4PGZ    4U0I   
Structural Biology KnowledgeBase1PKG    1QZJ    1QZK    1R01    1T45    1T46    2E9W    2EC8    2IUH    2VIF    3G0E    3G0F    4HVS    4K94    4K9E    4PGZ    4U0I   
SCOP (Structural Classification of Proteins)1PKG    1QZJ    1QZK    1R01    1T45    1T46    2E9W    2EC8    2IUH    2VIF    3G0E    3G0F    4HVS    4K94    4K9E    4PGZ    4U0I   
CATH (Classification of proteins structures)1PKG    1QZJ    1QZK    1R01    1T45    1T46    2E9W    2EC8    2IUH    2VIF    3G0E    3G0F    4HVS    4K94    4K9E    4PGZ    4U0I   
SuperfamilyP10721
Human Protein AtlasENSG00000157404
Peptide AtlasP10721
HPRD01287
IPIIPI00022296   IPI00848233   IPI01013771   
Protein Interaction databases
DIP (DOE-UCLA)P10721
IntAct (EBI)P10721
FunCoupENSG00000157404
BioGRIDKIT
STRING (EMBL)KIT
ZODIACKIT
Ontologies - Pathways
QuickGOP10721
Ontology : AmiGOMAPK cascade  activation of MAPK activity  ovarian follicle development  acrosomal vesicle  protease binding  myeloid progenitor cell differentiation  lymphoid progenitor cell differentiation  immature B cell differentiation  dendritic cell cytokine production  mast cell chemotaxis  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  receptor signaling protein tyrosine kinase activity  stem cell factor receptor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  ATP binding  extracellular space  plasma membrane  cell-cell junction  glycosphingolipid metabolic process  inflammatory response  signal transduction  spermatogenesis  spermatogenesis  spermatid development  positive regulation of cell proliferation  germ cell migration  regulation of cell shape  visual learning  male gonad development  external side of plasma membrane  cytoplasmic side of plasma membrane  positive regulation of phospholipase C activity  regulation of phosphatidylinositol 3-kinase signaling  positive regulation of phosphatidylinositol 3-kinase signaling  integral component of membrane  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  stem cell population maintenance  cytokine binding  lamellipodium assembly  hemopoiesis  T cell differentiation  erythrocyte differentiation  melanocyte differentiation  melanocyte differentiation  positive regulation of cell migration  positive regulation of pseudopodium assembly  actin cytoskeleton reorganization  mast cell cytokine production  somatic stem cell population maintenance  embryonic hemopoiesis  ectopic germ cell programmed cell death  hematopoietic stem cell migration  megakaryocyte development  Fc receptor signaling pathway  Kit signaling pathway  erythropoietin-mediated signaling pathway  regulation of cell proliferation  positive regulation of tyrosine phosphorylation of Stat1 protein  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  mast cell granule  protein homodimerization activity  negative regulation of programmed cell death  mast cell degranulation  positive regulation of MAPK cascade  pigmentation  positive regulation of GTPase activity  positive regulation of phosphatidylinositol 3-kinase activity  positive regulation of Notch signaling pathway  positive regulation of JAK-STAT cascade  protein autophosphorylation  phosphatidylinositol phosphorylation  metal ion binding  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  phosphatidylinositol-mediated signaling  regulation of developmental pigmentation  somatic stem cell division  positive regulation of long-term neuronal synaptic plasticity  digestive tract development  stem cell differentiation  epithelial cell proliferation  detection of mechanical stimulus involved in sensory perception of sound  positive regulation of sequence-specific DNA binding transcription factor activity  cell chemotaxis  mast cell differentiation  mast cell differentiation  mast cell proliferation  cellular response to thyroid hormone stimulus  melanocyte migration  melanocyte adhesion  positive regulation of vascular smooth muscle cell differentiation  
Ontology : EGO-EBIMAPK cascade  activation of MAPK activity  ovarian follicle development  acrosomal vesicle  protease binding  myeloid progenitor cell differentiation  lymphoid progenitor cell differentiation  immature B cell differentiation  dendritic cell cytokine production  mast cell chemotaxis  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  receptor signaling protein tyrosine kinase activity  stem cell factor receptor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  ATP binding  extracellular space  plasma membrane  cell-cell junction  glycosphingolipid metabolic process  inflammatory response  signal transduction  spermatogenesis  spermatogenesis  spermatid development  positive regulation of cell proliferation  germ cell migration  regulation of cell shape  visual learning  male gonad development  external side of plasma membrane  cytoplasmic side of plasma membrane  positive regulation of phospholipase C activity  regulation of phosphatidylinositol 3-kinase signaling  positive regulation of phosphatidylinositol 3-kinase signaling  integral component of membrane  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  stem cell population maintenance  cytokine binding  lamellipodium assembly  hemopoiesis  T cell differentiation  erythrocyte differentiation  melanocyte differentiation  melanocyte differentiation  positive regulation of cell migration  positive regulation of pseudopodium assembly  actin cytoskeleton reorganization  mast cell cytokine production  somatic stem cell population maintenance  embryonic hemopoiesis  ectopic germ cell programmed cell death  hematopoietic stem cell migration  megakaryocyte development  Fc receptor signaling pathway  Kit signaling pathway  erythropoietin-mediated signaling pathway  regulation of cell proliferation  positive regulation of tyrosine phosphorylation of Stat1 protein  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  mast cell granule  protein homodimerization activity  negative regulation of programmed cell death  mast cell degranulation  positive regulation of MAPK cascade  pigmentation  positive regulation of GTPase activity  positive regulation of phosphatidylinositol 3-kinase activity  positive regulation of Notch signaling pathway  positive regulation of JAK-STAT cascade  protein autophosphorylation  phosphatidylinositol phosphorylation  metal ion binding  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  phosphatidylinositol-mediated signaling  regulation of developmental pigmentation  somatic stem cell division  positive regulation of long-term neuronal synaptic plasticity  digestive tract development  stem cell differentiation  epithelial cell proliferation  detection of mechanical stimulus involved in sensory perception of sound  positive regulation of sequence-specific DNA binding transcription factor activity  cell chemotaxis  mast cell differentiation  mast cell differentiation  mast cell proliferation  cellular response to thyroid hormone stimulus  melanocyte migration  melanocyte adhesion  positive regulation of vascular smooth muscle cell differentiation  
Pathways : BIOCARTARegulation of BAD phosphorylation [Genes]    Melanocyte Development and Pigmentation [Genes]   
Pathways : KEGGRas signaling pathway    Rap1 signaling pathway    Cytokine-cytokine receptor interaction    Endocytosis    PI3K-Akt signaling pathway    Hematopoietic cell lineage    Melanogenesis    Pathways in cancer    Acute myeloid leukemia   
REACTOMEP10721 [protein]
REACTOME PathwaysR-HSA-1433557 Signaling by SCF-KIT [pathway]
REACTOME PathwaysR-HSA-1433559 Regulation of KIT signaling [pathway]
REACTOME PathwaysR-HSA-1257604 PIP3 activates AKT signaling [pathway]
REACTOME PathwaysR-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer [pathway]
REACTOME PathwaysR-HSA-5673001 RAF/MAP kinase cascade [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkKIT
Wikipedia pathwaysKIT
Orthology - Evolution
OrthoDB3815
GeneTree (enSembl)ENSG00000157404
Phylogenetic Trees/Animal Genes : TreeFamKIT
Homologs : HomoloGeneKIT
Homology/Alignments : Family Browser (UCSC)KIT
Gene fusions - Rearrangements
Fusion : MitelmanCNTRL/KIT [9q33.2/4q12]  [t(4;9)(q12;q33)]  
Fusion : MitelmanKIT/UGT2B7 [4q12/4q13.2]  [t(4;4)(q12;q13)]  
Fusion : MitelmanRCOR1/KIT [14q32.31/4q12]  [t(4;14)(q12;q32)]  
Fusion: TCGAKIT 4q12 UGT2B7 4q13.2 SKCM
Fusion: TCGARCOR1 14q32.31 KIT 4q12 PRAD
Fusion : TICdbCNTRL [9q33.2]  -  KIT [4q12]
Polymorphisms : SNP, variants
NCBI Variation ViewerKIT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIT
dbVarKIT
ClinVarKIT
1000_GenomesKIT 
Exome Variant ServerKIT
ExAC (Exome Aggregation Consortium)KIT (select the gene name)
Genetic variants : HAPMAP3815
Genomic Variants (DGV)KIT [DGVbeta]
Mutations
ICGC Data PortalKIT 
TCGA Data PortalKIT 
Broad Tumor PortalKIT
OASIS PortalKIT [ Somatic mutations - Copy number]
Cancer Gene: CensusKIT 
Somatic Mutations in Cancer : COSMICKIT 
intOGen PortalKIT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch KIT
DgiDB (Drug Gene Interaction Database)KIT
DoCM (Curated mutations)KIT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIT (select a term)
intoGenKIT
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:55524095-55606881  ENSG00000157404
CONAN: Copy Number AnalysisKIT 
Mutations and Diseases : HGMDKIT
OMIM154800    164920    172800    273300    606764   
MedgenKIT
Genetic Testing Registry KIT
NextProtP10721 [Medical]
TSGene3815
GENETestsKIT
Huge Navigator KIT [HugePedia]
snp3D : Map Gene to Disease3815
BioCentury BCIQKIT
ClinGenKIT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3815
Chemical/Pharm GKB GenePA30128
Drug Sensitivity KIT
Clinical trialKIT
Miscellaneous
canSAR (ICR)KIT (select the gene name)
Other databaseTumor Portal
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
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