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KIT Gene

protein-coding   GIFtS: 72

GC04P055218
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
(Previous name: piebald trait )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PBT)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
C-Kit 1, 2
CD117 1, 2
EC 2.7.10.1 3
PBT 2, 5
SCFR 1, 2, 3
c-kit 3
Descriptions
CD117 antigen 3
Proto-oncogene tyrosine-protein kinase Kit 2, 3
mast/stem cell growth factor receptor 2
piebald trait 1
soluble KIT variant 1 2
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene
homolog 2
External Ids
HGNC: 63421
Entrez Gene: 38152
UniProtKB: P107213
Ensembl: ENSG000001574047
Search outside databases for aliases for KIT gene

Previous GC identifers: GC04P055328 GC04P055485 GC04P055439 GC04P055365

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene 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]

UniProtKB/Swiss-Prot: KIT_HUMAN, P10721
Function: This is the receptor for stem cell factor (mast cell growth factor). It has a
tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT
and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K)

Gene Wiki entry for KIT (CD117)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KIT gene  

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 gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P055218:     (about GC identifiers)

Start:
55,218,852 bp from pter
End:
55,301,638 bp from pter
Size:
82,787 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000004.10  NT_022853.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 (See protein sequence)
Recommended Name: Mast/stem cell growth factor receptor precursor  
Size: 976 amino acids; 109865 Da
Subunit: Interacts with APS. Interacts with MPDZ (via the tenth PDZ domain). Interacts with PTPRU
Subcellular location: Membrane; Single-pass type I membrane protein
PDB structures from and Proteopedia :
1PKG (3D)    1QZJ (3D)    1QZK (3D)    1R01 (3D)    1T45 (3D)    1T46 (3D)    2E9W (3D)    2EC8 (3D)    
2VIF (3D)    3G0E (3D)    3G0F (3D)    
Secondary accessions: Q9UM99

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_000213.1  NP_001087241.1  


    ENSEMBL proteins: 
    ENSP00000288135 


    Human Recombinant Proteins 
    Invitrogen human recombinant proteins for KIT
    Millipore Purified and/or Recombinant KIT Protein
    Sigma-Aldrich Proteins for KIT  
    R&D Systems Recombinant & Natural Proteins for KIT (SCF R/c-kit)
    Enzo Life Sciences proteins for KIT
    Recombinant Proteins from Abcam (c-Kit)
    Human Recombinant Proteins from Abnova (KIT)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615 extracellular space IDA14625290
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm IDA18029348
    GO:0005886 plasma membrane IDA18029348
    GO:0009897 external side of plasma membrane IEA--
    About this table

    Antibodies for KIT: 
    Invitrogen Antibodies for KIT
    Millipore Mono- and Polyclonal Antibodies for the study of KIT
    Sigma-Aldrich Antibodies for KIT
    R&D Systems Antibodies for KIT (SCF R/c-kit)
    Cell Signaling Technology (CST) Antibodies for KIT  (c-Kit)
    Antibodies from Abcam (c-Kit), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (KIT)
    Novus Biologicals Antibodies for KIT

    Assays for KIT: 
    Invitrogen Assays for KIT
    Millipore Kits and Assays for the Analysis of KIT
    R&D Systems ELISAs for KIT (SCF R/c-kit)         (see all)
    Cell Signaling Technology (CST) Sandwich ELISA Kits for KIT (c-Kit)
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/11 InterPro domains/families (see all 11 ):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR013783 Ig-like_fold
     IPR000719 Prot_kinase_core
     IPR001824 Recept_tyr_kinase-III_CS


       GeneDecks  KIT for the domains selected above  
    About GeneDecksing

    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 subfamily
    Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KIT)
    Millipore RNAi Products for the Analysis of KIT Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (KIT)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001093772

                  Applied Biosystems Silencer® siRNAs for KIT

                  Sigma-Aldrich siRNA and siRNA Panels for KIT  
                         Sigma-Aldrich shRNA Panels and shRNA for KIT  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for KIT
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000222
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000222
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000222 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000222

    UniProtKB/Swiss-Prot: KIT_HUMAN, P10721
    Function: This is the receptor for stem cell factor (mast cell growth factor). It has a
    tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT
    and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K)
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme Number (IUBMB): EC 2.7.10.1 

    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

    15/26 MGI mutant phenotypes (inferred from 97 alleles(MGI details for Kit) (see all 26 ):

    cellularcraniofacialdigestive/alimentaryendocrine/exocrine gland
    growth/sizehearing/vestibular/earhematopoietic systemhomeostasis/metabolismimmune system
    lethality-postnatallethality-prenatal/perinatallife span-post-weaning/aginglimbs/digits/tailliver/biliary system

    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004716 receptor signaling protein tyrosine kinase activity TAS9438854
    GO:0004872 receptor activity IEA--
    GO:0005020 stem cell factor receptor activity IEA--
    GO:0005515 protein binding IPI17662946
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for KIT
     Development EPO-induced MAPK pathway

       GeneDecks  KIT for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  KIT  (Your Favorite Gene powered by Ingenuity) 
     Acute Myeloid Leukemia Signaling
     Melanocyte Development and Pigmentation Signaling

       GeneDecks  KIT for the pathways selected above  
    About GeneDecksing

    2 Cell Signaling Technology (CST) Pathways for KIT: 
     Translational Control: Regulation of eIF4E and p70 S6 Kinase
     Protein Acetylation

       GeneDecks  KIT for the pathways selected above  
    About GeneDecksing

    5 Kegg Pathways  (Kegg details for KIT):
     hsa04060 Cytokine-cytokine receptor interaction
     hsa04640 Hematopoietic cell lineage
     hsa04916 Melanogenesis
     hsa05200 Pathways in cancer
     hsa05221 Acute myeloid leukemia

       GeneDecks  KIT for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  KIT 


    2 Interacting proteins for KIT (P107211) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KITLGP215831EBI-1379503, EBI-1379527
    PTPRJQ129131EBI-1379503, EBI-2264500
    About this table

    5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002573 myeloid leukocyte differentiation IEA--
    GO:0007165 signal transduction TAS9990072
    GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA--
    GO:0007243 protein kinase cascade IEA--
    GO:0007283 spermatogenesis IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Sigma-Aldrich Small Molecules for KIT:
    Inhibitor

    Browse Tocris compounds for KIT
    10/41 Novoseek chemical compound relationships for KIT gene (see all 41 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 88.81 898 16287490 (7), 9528781 (5), 12600228 (4), 17949810 (4) (see all 99)
    mln 518 68.62 12 15304388 (4), 15242881 (3), 16902153 (1)
    ag-1296 63.06 7 7954456 (1), 12512837 (1), 17654122 (1)
    beta-tyrosine 60.62 3 10786682 (1), 17272980 (1), 14871970 (1)
    su6668 60.58 5 11222388 (3), 16144927 (1), 12888313 (1)
    amn107 56.69 6 16797704 (3), 16189265 (2), 17363509 (1)
    17-(allylamino)-17-demethoxygeldanamycin 51.55 4 16213582 (2), 18399173 (1), 14551138 (1)
    phosphatidylinositol 40.90 24 1372092 (2), 14695343 (1), 9092574 (1), 17452978 (1) (see all 15)
    monochloroacetic acid 37.20 6 9140315 (2), 9273545 (1), 12436291 (1)
    toluidine 35.46 11 10432289 (2), 16334197 (1), 18500266 (1), 12826896 (1) (see all 6)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KIT)
    Millipore RNAi Products for the Analysis of KIT Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (KIT)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001093772

                  Sigma-Aldrich siRNA and siRNA Panels for KIT  
                         Sigma-Aldrich shRNA Panels and shRNA for KIT  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000222  NM_001093772  

    REFSEQ mRNAs for KIT gene (2 alternative transcripts): 

    NM_000222.2   NM_001093772.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000222  NM_001093772  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000222
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000222
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000222 

    Additional cDNA sequence: 

    AJ438313.1 AK304031.1 BC071593.1 EU826594.1 X06182.1 

    1 DOTS entry:

    DT.115605 

    24/95 AceView cDNA sequences (see all 95 ):

    AI567693 AW468784 BM713257 AI674108 AA481776 AI567686 AW264522 BX642234 
    AI308810 AI696267 AU108050 AI143554 BX955809 BC071593 BX478628 BM971784 
    AW271802 AW244098 AJ438313 AI890068 AU100291 AW949528 AA873164 AI355325 

    highest scoring ESTs for KIT:

    X06182 AA143045 AA403148 AA481776 AI674108 AL048483 AW879367 AW879393 AW879433 AW949528 

    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


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KIT (see all 6 )

    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:                        

    About this scheme

    ECgene alternative splicing isoforms for KIT

    1 Ensembl transcript including schematic representation:
    ENST00000288135  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KIT expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KIT

    1 / 2 / 3

    3 probe-sets matching KIT gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    1888_s_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X06182 1.00 1.00 1.00 1

    205051_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000222 0.60 1.00 0.82 1

    205051_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGTCCTTGAA

    SOURCE GeneReport for Unigene cluster: Hs.479754

    Expression variation in blood from EXPOLDB for KIT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KIT gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KIT1   -- v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene more 88.34(n)
    88.58(a)
    403811  NM_001003181.1  NP_001003181.1 
    chimpanzee
    (Pan troglodytes)
    KIT1   -- v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene more 99.55(n)
    99.69(a)
    461316  XM_517285.2  XP_517285.2 
    cow
    (Bos taurus)
    KIT1   -- v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene more 87.79(n)
    89.93(a)
    280832  XM_612028.3  XP_612028.3 
    rat
    (Rattus norvegicus)
    Kit1   -- v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene more 83.2(n)
    84.19(a)
    64030  NM_022264.1  NP_071600.1 
    mouse
    (Mus musculus)
    Kit1, 5 5 (42.00 cM)5
    kit oncogene1, 5 82.75(n)1
    82.78(a)1
    165901  NM_021099.21  NP_066922.11 
     AF3563505  AK0467955  (see all 23)
    About this table        Species with no ortholog for KIT

    ENSEMBL Gene Tree for KIT
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KIT gene
    CSF1R2  FLT32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/517 NCBI SNPs in KIT are shown (see all 517 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 218)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs22131811,2
    A,C,F,H55299629(+) GTGGCC/TGATGA 2 -- ut31 ese34Minor allele frequency- T:0.10EU EA WA 418
    rs80221,2
    A,C,F,H55301184(+) GGGTTG/TTGTTG 2 -- ut318Minor allele frequency- T:0.29MN EU EA NA 808
    rs37967761,2
    A,C,F,H55301967(+) CCAAAC/GAGAGG 2 -- ng3117Minor allele frequency- G:0.10EA NA EU WA 2874
    rs65541981,2
    A,C,F,H55216917(+) ATGACA/GGTCCA 2 -- ng517Minor allele frequency- G:0.42NA EU EA WA 554
    rs65541991,2
    A,C,F,H55217245(+) CCTTTG/TGTATT 2 -- ng518Minor allele frequency- T:0.48EA NA EU WA 626
    --
    rs38222141,2
    C,F,H55288221(+) TTGTGA/C/GTGATT 4 M/L M/V mis18EA WA EU 1426
    rs10054381,2
    A,C55218695(+) GGCACA/GGCCCC 2 -- ng510--------
    rs170847331,2
    F,H55299697(+) GCAACG/ATAGCT 2 -- ut31 ese37Minor allele frequency- A:0.10NA EU EA WA 562
    rs352001311,2
    C55290339(+) TATTTG/CTTCAA 2 S/C mis14Minor allele frequency- C:0.00EU EA WA 420
    rs11236291,2
    H55218189(+) CGCCCC/TTGTCT 2 -- ng516Minor allele frequency- T:0.00NA MN EU EA WA 686
    About this table

    HapMap Linkage Disequilibrium images for KIT (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 164920

    UniProtKB/Swiss-Prot: KIT_HUMAN, P10721

  • Defects in KIT are a cause of piebaldism [MIM:172800]. Piebaldism 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 tumors [MIM:273300]. It includes germ
    cell tumor (GCT) or testicular germ cell tumor (TGCT)
  • 10/94 Novoseek disease relationships for KIT gene (see all 94 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastrointestinal stromal tumor 97.55 392 11073817 (3), 18657298 (3), 18715619 (3), 11065242 (2) (see all 99)
    mastocytosis 89.57 146 9990072 (6), 15858149 (5), 9519779 (4), 7479840 (4) (see all 73)
    mastocytosis systemic 88.80 54 11380399 (3), 18500355 (2), 10632491 (2), 10721793 (1) (see all 33)
    leukemia mast cell 85.42 24 17949810 (5), 16093434 (2), 7536501 (1), 10910906 (1) (see all 12)
    stromal tumors 83.10 32 18777214 (2), 15012791 (2), 15507676 (2), 16258510 (1) (see all 19)
    piebaldism 82.91 46 11174389 (4), 15194144 (4), 1279971 (3), 7534102 (3) (see all 23)
    carney triad 77.20 3 17549339 (1), 18312355 (1), 17021135 (1)
    tumors 75.86 978 12759497 (8), 15542802 (6), 15812822 (6), 19035443 (6) (see all 99)
    myeloid leukemia chronic 75.49 45 12480706 (1), 15126530 (1), 16143881 (1), 11840282 (1) (see all 38)
    smooth muscle tumor 75.33 14 11127756 (1), 16400320 (1), 17193824 (1), 9916918 (1) (see all 11)
    About this table

    Human Gene Mutation Database: KIT
    Genetic Association Database: KIT
    Human Genome Epidemiology Navigator: KIT (162 documents)
    Tumor Gene Database: KIT
    Breast Cancer Gene Database: KIT

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/1462 PubMed articles for KIT gene (see all 1462 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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    Entrez Gene: 3815 HGNC: 6342 AceView: KIT Ensembl:ENSG00000157404 euGenes: HUgn3815
    ECgene: KIT H-InvDB: KIT
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for KIT Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=KIT
    Wikipedia http://en.wikipedia.org/wiki/CD117
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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