KIT Gene
protein-coding GIFtS : 74
GCID: GC04 P055524
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (Previous name: piebald trait ) (Previous symbol: PBT )
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor KIT gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog 1 2 3 EC 2.7.10.13 8 PBT1 2 3 5 Piebald Trait1 SCFR1 2 3 Mast/Stem Cell Growth Factor Receptor Kit2 C-Kit1 2 Proto-Oncogene Tyrosine-Protein Kinase Kit2 CD1171 2 Soluble KIT Variant 12 Piebald Trait Protein2 3 V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene-Like Protein2 Proto-Oncogene C-Kit2 3 CD117 Antigen3 Tyrosine-Protein Kinase Kit2 3 EC 2.7.108 P145 C-Kit2 3
Export aliases for KIT gene to outside databases Previous GC identifers: GC04P055328 GC04P055485 GC04P055439 GC04P055365 GC04P055218 GC04P051471
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor KIT gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for KIT : 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) UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 Function : Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essentialrole 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 (CD117)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor KIT gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000004.11 NC_018915.1 NT_022853.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KIT gene promoter: Max1 p53 GCNF RelA AREB6 MEF-2A GCNF-1 STAT3 GCNF-2 c-Myc Other transcription factors Search SABiosciences Chromatin IP Primers for KIT Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat KIT
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 4q11-q12 Ensembl cytogenetic band: 4q12 HGNC cytogenetic band: 4q11-q12 KIT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 4 GeneLoc Exon Structure
GeneLoc location for GC04P055524: view genomic region
(about GC identifiers )
Start:
55,524,085 bp from pter
End:
55,606,881 bp from pter
Size:
82,797 bases
Orientation:
plus strand
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor KIT gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 (See
protein sequence )Recommended Name: Mast/stem cell growth factor receptor Kit precursor Size : 976 amino acids; 109865 Da
Subunit : Monomer in the absence of bound KITLG/SCF. Homodimer in the presence of bound KITLG/SCF, forming aheterotetramer 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
Subcellular location : Isoform 1: Cell membrane; Single-pass type I membrane protein
Subcellular location : Isoform 2: Cell membrane; Single-pass type I membrane protein
Subcellular location : Isoform 3: Cytoplasm. Note=Detected in the cytoplasm of spermatozoa, especially in the equatorialand subacrosomal region of the sperm head
Miscellaneous : Numerous proteins are phosphorylated in response to KIT signaling, but it is not evident to determinewhich are directly phosphorylated by KIT under in vivo conditions
6/11 PDB 3D structures from and Proteopedia for KIT (see all 11 ):1PKG (3D)
  1QZJ (3D)
  1QZK (3D)
  1R01 (3D)
  1T45 (3D)
  1T46 (3D)
 
Secondary accessions : B5A956 D5LXN2 D5M931 F5H8F8 Q6IQ28 Q99662 Q9UM99Alternative splicing : 3 isoforms : P10721-1 P10721-2 P10721-3 Explore the universe of human proteins at neXtProt for KIT: NX_P10721 Post-translational modifications:
Ubiquitinated by SOCS6. KIT is rapidly ubiquitinated after autophosphorylation induced by KITLG/SCF binding, leading to internalization and degradation1
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 GRB71
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P10721 4/40 DME Specific Peptides for KIT (P10721 ) (see all 40 )KIT Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_000213.1 NP_001087241.1 ENSEMBL proteins: ENSP00000288135 ENSP00000390987 Reactome Protein details: P10721 Human Recombinant Protein Products: Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7 ): About this table
KIT for ontologies About GeneDecksing KIT Antibody Products: EMD Millipore Mono- and Polyclonal Antibodies for the study of KIT R&D Systems Antibodies for KIT (SCF R/c-kit) Cell Signaling Technology (CST) Antibodies for KIT   OriGene Antibodies (see all 8 ): KIT OriGene Custom Antibody Services for KIT GenScript Superior Antibodies for KIT Novus Biologicals KIT Antibodies Abcam antibodies for KIT Uscn Antibodies for KIT ThermoFisher Antibody for KIT
Assay Products for KIT:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains / Familiesfor KIT gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
KIT for domains About GeneDecksing 5/13 InterPro domains/families (see all 13 ):
Graphical View of Domain Structure for InterPro Entry P10721 ProtoNet protein and cluster: P10721
3 Blocks protein families : IPB001824 Receptor tyrosine kinase IPB003598 Immunoglobulin C-2 type IPB008266 Tyrosine protein kinase UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 Similarity : Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamilySimilarity : Contains 5 Ig-like C2-type (immunoglobulin-like) domainsSimilarity : Contains 1 protein kinase domain
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor KIT gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 Function : Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essentialrole 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 Catalytic activity : ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphateEnzyme regulation : Present in an inactive conformation in the absence of bound ligand. KITLG/SCF binding leads todimerization 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 Induction : Up-regulated by cis-retinoic acid in neuroblastoma cell lines
Genatlas biochemistry entry for KIT : Hardy-Zuckerman 4 feline sarcoma viral (v-kit or c-kit) oncogene homolog,homologous to murine dominant spotting,involved in melanogenesis Enzyme Numbers (IUBMB): EC 2.7.10.1 1 2 EC 2.7.10 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KIT (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KIT (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): KIT (NM_000222 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KIT Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KIT
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIT
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0002020 protease binding
IEA -- GO:0004713 protein tyrosine kinase activity
TAS 1717985 GO:0004714 transmembrane receptor protein tyrosine kinase activity
IDA -- GO:0004716 receptor signaling protein tyrosine kinase activity
TAS 9438854 GO:0005020 stem cell factor receptor activity
IEA --
KIT for ontologies About GeneDecksing 4 GenomeRNAi human phenotypes for KIT :Animal Models: 15/27 MGI mutant phenotypes (inferred from 104 alleles ) (MGI details for Kit) (see all 27 ):
KIT for phenotypes About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor KIT gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/33 super-pathways (see all 33 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Signaling by FGFR 2 Apoptotic Pathways in Synovial Fibroblasts 3 PIP3 activates AKT signaling 4 GPCR Pathway 5 Rho Family GTPases
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for KIT 5/50 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KIT (see all 50 )2
Cell Signaling Technology (CST) Pathways for KIT 1 GeneGo (Thomson Reuters) Pathway for KIT 3 BioSystems Pathways for KIT 5/32
Reactome Pathways for KIT (see all 32 )2 PharmGKB Pathways for KIT 5/6
Kegg Pathways (Kegg details for KIT) (see all 6 ):
KIT for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIT STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/116 Interacting proteins for KIT (P10721 1 , 2 , 3 ENSP00000288135 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 116 )Interactant Interaction Details GeneCard External ID(s) PIK3R1 P27986 2 , 3 , ENSP00000274335 4 MINT-8037290 MINT-8037249 I2D:
score=6 STRING: ENSP00000274335 PLCG1 P19174 2 , 3 , ENSP00000244007 4 MINT-8028837 I2D:
score=4 STRING: ENSP00000244007 CRK P46108 2 , 3 , ENSP00000300574 4 MINT-8030415 I2D:
score=3 STRING: ENSP00000300574 GRB7 Q14451 2 , 3 , ENSP00000310771 4 MINT-8028863 I2D:
score=3 STRING: ENSP00000310771 KITLG P21583 1 , 3 , ENSP00000228280 4 EBI-1379503,EBI-1379527 I2D:
score=3 STRING: ENSP00000228280
About this table Gene Ontology (GO): 5/63 biological process terms (GO ID links to tree view) (see all 63 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000187 activation of MAPK activity
IDA -- GO:0001541 ovarian follicle development
ISS -- GO:0002318 myeloid progenitor cell differentiation
IEA -- GO:0002320 lymphoid progenitor cell differentiation
IEA -- GO:0002327 immature B cell differentiation
ISS --
KIT for ontologies About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor KIT gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
KIT for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for KIT
Browse Tocris compounds for KIT 2 HMDB Compounds for KIT About this table 7 DrugBank Compounds for KIT About this table 10/85 Novoseek chemical compound relationships for KIT gene (see all 85 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
imatinib
96.2
1022
17546049 (7), 20043176 (6), 17545544 (5), 14645423 (5) (see all 99 )
tyrosine
89.2
979
16287490 (7), 9528781 (5), 12600228 (4), 17949810 (4) (see all 99 )
sunitinib
85.9
51
19390946 (3), 17208434 (2), 20095048 (2), 17367763 (2) (see all 40 )
dasatinib
80.1
33
16397263 (5), 16434489 (3), 19671763 (2), 20145167 (2) (see all 21 )
pkc 412
74.3
12
15972446 (2), 15790786 (2), 16189265 (2), 19026036 (1) (see all 9 )
tandutinib
65.6
12
15304388 (4), 15242881 (3), 16902153 (1)
sorafenib
64.4
27
17545544 (8), 20109071 (2), 17178882 (1), 20372153 (1) (see all 16 )
ag-1296
61.1
7
7954456 (1), 12512837 (1), 17654122 (1)
su5416
60.5
10
11222388 (3), 17169805 (1), 11600818 (1), 15355900 (1) (see all 8 )
su6668
58.8
5
11222388 (3), 16144927 (1), 12888313 (1)
Search CenterWatch for drugs/clinical trials and news about KIT
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor KIT gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for KIT gene (2 alternative transcripts): NM_000222.2 NM_001093772.1 Unigene Cluster for KIT:
V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Hs.479754 [show with all ESTs ] Unigene Representative Sequence: NM_000222 4 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000288135 (uc010igr.3 uc010igs.3 ) ENST00000412167 (uc010igt.2 )ENST00000514582 ENST00000512959 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KIT (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KIT (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): KIT (NM_000222 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KIT Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KIT
Additional cDNA sequence: AJ438313.1 AK304031.1 BC071593.1 EU826594.1 GU983671.1 HM015525.1 HM015526.1 HM030712.1 HM030713.1 HM437240.1 X06182.1
1 DOTS entry : DT.115605
24/95 AceView cDNA sequences (see all 95 ):
AI674108 AI567686 AI143554 BX478628 BM713257 AW949528 AU100291 AW264522 AA873164 BC071593 AI355325 AI696267 BX642234 AW271802 AA481776 AI890068 AW468784 BM971784 AI308810 AI567693 AA552932 AW244098 AJ438313 AU108050 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KIT (see all 6 ) About this scheme 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 :                                                    
ExUns: 18 ^ 19 ^ 20 ^ 21 SP1 :         SP2 :         SP3 :         SP4 :         SP5 :        
ECgene alternative splicing isoforms for KIT
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for KIT gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section KIT expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AGTCCTTGAA
About this image KIT expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See KIT Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KIT SOURCE GeneReport for Unigene cluster: Hs.479754 UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 Tissue specificity : Isoform 1 and isoform 2 are detected in spermatogonia and Leydig cells. Isoform 3 is detected inround spermatids, elongating spermatids and spermatozoa (at protein level). Widely expressed. Detected in the hematopoietic system, the gastrointestinal system, in melanocytes and in germ cells SABiosciences Expression via Pathway-Focused PCR Arrays including KIT (see all 8 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KITBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat KIT QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KIT QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KIT In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIT
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor KIT gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for KIT gene from 5/17 species (see all 17 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
KIT1
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene more
69.53(n) 67.05(a)
 
378783 NM_204361.1 NP_989692.1
lizard (Anolis carolinensis)
Reptilia
KIT6
--
65(a)
1 ↔ 1
5(104401498-104453694)
African clawed frog (Xenopus laevis)
Amphibia
kit-A2
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene more
75.09(n)
 
Z48770.1
zebrafish (Danio rerio)
Actinopterygii
AF153446.12
--
74.67(n)
 
30256 AF153446.1
fruit fly (Drosophila melanogaster)
Insecta
CG32773
protein amino acid phosphorylation protein tyrosine more
34(a)
 
23E3 --
ENSEMBL Gene Tree for KIT (if available)TreeFam Gene Tree for KIT (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor KIT gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for KIT gene FLT4 2 FGFR4 2 PDGFRB 2 CSF1R 2 FGFR3 2 PDGFRA 2 RET 2 KDR 2 FGFR1 2 FGFR2 2 FLT3 2 FLT1 2 18/28 SIMAP similar genes for KIT using alignment to 10 protein entries: KIT_HUMAN (see all proteins )
(see all similar genes ):kit FLT1 NIN/PDGFRB fusion CSF1R FLT4 FLT3 RET RET/PTC2 CCDC6-RETa CCDC6-RETc FGFR2 FGFR3 EPHA2 FGFR4 IGF1R CD74/ROS fusion EZR-ROS1 ROS1
KIT for paralogs About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor KIT gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Human Gene Mutation Database (HGMD) : KIT 5/51 SABiosciences Cancer Mutation PCR Assays for KIT (see all 51 ):
5/14 SABiosciences Cancer Mutation PCR Arrays containing KIT (see all 14 ):
2 SABiosciences qBiomarker Copy Number PCR Arrays containing KIT :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KIT
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor KIT gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
KIT for disorders About GeneDecksing OMIM gene information: 164920 OMIM disorders : 273300 606764 601626 UniProtKB/Swiss-Prot: KIT_HUMAN, P10721
Defects in KIT are a cause of piebald trait (PBT) [MIM:172800]; also known as piebaldism. PBT is an autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764] Defects in KIT have been associated with testicular germ cell tumor (TGCT) [MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms Defects in KIT are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development. Note=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 20/223 diseases for KIT (see all 223 ): About MalaCards piebaldism gastrointestinal stromal tumor sarcoma interleukin-7 receptor alpha deficiency malignant peripheral nerve sheath tumor polymorphous low-grade adenocarcinoma carney triad von hippel-lindau disease gastrointestinal stromal tumor, somatic desmoplastic small round cell tumor dermatofibrosarcoma protuberans mast-cell leukemia smooth muscle tumor diffuse large b-cell lymphoma langerhans-cell histiocytosis mastocytosis microglandular adenosis indolent systemic mastocytosis uterine carcinosarcoma perivascular epithelioid cell tumor 10 diseases from the University of Copenhagen DISEASES database for KIT :Gastrointestinal stromal tumor Mastocytosis Piebaldism Leukemia Leiomyosarcoma Mesenchymal cell neoplasm Sarcoma Melanoma Seminoma Neurofibromatosis 10/94 Novoseek disease relationships for KIT gene (see all 94 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
gastrointestinal stromal tumor
97.7
442
11073817 (3), 18657298 (3), 18715619 (3), 11065242 (2) (see all 99 )
mastocytosis
89.8
156
9990072 (6), 15858149 (5), 9519779 (4), 7479840 (4) (see all 79 )
mastocytosis systemic
89.4
57
11380399 (3), 18500355 (2), 10632491 (2), 10721793 (1) (see all 36 )
leukemia mast cell
85.5
25
17949810 (5), 16093434 (2), 7536501 (1), 10910906 (1) (see all 13 )
piebaldism
82.7
51
11174389 (4), 19430803 (4), 15194144 (4), 1279971 (3) (see all 24 )
stromal tumors
82.7
34
18777214 (2), 15012791 (2), 15507676 (2), 19894031 (2) (see all 20 )
carney triad
78.6
3
17549339 (1), 18312355 (1), 17021135 (1)
tumors
77.1
1063
12759497 (8), 15542802 (6), 15812822 (6), 19035443 (6) (see all 99 )
myeloid leukemia chronic
76.1
48
12480706 (1), 15126530 (1), 16143881 (1), 19509233 (1) (see all 41 )
seminoma
73.9
115
17768701 (6), 14695343 (4), 8551387 (4), 18045648 (4) (see all 41 )
Genetic Association Database (GAD): KIT Human Genome Epidemiology (HuGE) Navigator: KIT (266 documents) Tumor Gene Database (TGDB) : KIT Export disorders for KIT gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor KIT gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for KIT gene, integrated from 9 sources (see all 1920 ): (articles sorted by number of sources associating them with KIT) Utopia : connect your pdf to the dynamic world of online information
Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes. (PubMed id 9027509) 1 , 2 , 3, 9 Andre C.... Galibert F. (1997) SHP-1 binds and negatively modulates the c-Kit receptor by interaction with tyrosine 569 in the c-Kit juxtamembrane domain. (PubMed id 9528781) 1 , 2 , 9 Kozlowski M....Siminovitch K.A. (1998) Sorafenib inhibits imatinib-resistant KIT and platelet-derived growth factor receptor beta gatekeeper mutants. (PubMed id 17545544) 1 , 7, 9 Guida T....Carlomagno F. (2007) Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor. (PubMed id 16129412) 1 , 2 , 9 Roskoski R. (2005) Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. (PubMed id 7479840) 1 , 4, 9 Nagata H....Metcalfe D.D. (1995) Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor. (PubMed id 17662946) 1 , 2 , 9 Yuzawa S....Schlessinger J. (2007) The tyrosine kinase FES is an essential effector of KITD816V proliferation signal. (PubMed id 17595334) 1 , 2 , 9 Voisset E....De Sepulveda P. (2007) Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). (PubMed id 16135486) 1 , 4, 9 Martin J....Buesa J.M. (2005) Identification of Tyr900 in the kinase domain of c-Kit as a Src-dependent phosphorylation site mediating interaction with c-Crk. (PubMed id 12878163) 1 , 2 , 9 Lennartsson J....Ronnstrand L. (2003) Piebaldism with deafness: molecular evidence for an expanded syndrome. (PubMed id 9450866) 1 , 2 , 9 Spritz R.A. and Beighton P. (1998)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for KIT gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing KIT gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing KIT gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing KIT gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for KIT Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for KIT Genetics and Cytogenetics in Oncology and Haematology GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIT Wikipedia http://en.wikipedia.org/wiki/CD117
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for KIT gene: Search GeneIP for patents involving KIT GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor KIT gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for KIT OriGene shRNA RFP for KIT OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for KIT OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KIT OriGene Protein Over-expression Lysate for KIT Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for KIT OriGene 3'-UTR Clone for KIT OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KIT OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KIT Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for KIT OriGene Custom Protein Services for KIT OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KIT QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KIT QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat KIT QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat KIT QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KIT QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KIT
Antibodies & Assays for KIT  
Search Tocris compounds for KIT
KIT Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIT
ThermoFisher Antibody for KIT
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KIT
Jump to Section...
Aliases for KIT
Databases for KIT
Disorders / Diseases for KIT
Domains / Families for KIT
Drugs / Compounds for KIT
Expression for KIT
Function for KIT
Genomic Views for KIT
Intellectual Property for KIT
Orthologs for KIT
Paralogs for KIT
Pathways / Interactions for KIT
Products for KIT
Proteins for KIT
Publications for KIT
Search Box for KIT
Summaries for KIT
Transcripts for KIT
Variants for KIT
TOP
BOTTOM