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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIT Gene

protein-coding   GIFtS: 74
GCID: GC04P055524

v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog

(Previous name: piebald trait )
(Previous symbol: PBT)
 Explore 223 diseases affiliated with
KIT via our new
 Human Malady Compendium 
Biological research products
for KIT
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog1 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     

External Ids:    HGNC: 63421   Entrez Gene: 38152   Ensembl: ENSG000001574047   OMIM: 1649205   UniProtKB: P107213   

Export aliases for KIT gene to outside databases

Previous GC identifers: GC04P055328 GC04P055485 GC04P055439 GC04P055365 GC04P055218 GC04P051471


(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 essential
role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast
cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate
several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by
phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits
signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of
STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular
signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein
phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of
the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B.
Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1

Gene Wiki entry for KIT (CD117)


(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

SwitchGear Promoter luciferase reporter plasmidKIT promoter sequence
   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)
KIT gene location

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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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 a
heterotetramer with two KITLG/SCF molecules. Interacts (via phosphorylated tyrosine residues) with the adapter
proteins GRB2 and GRB7 (via SH2 domain), and SH2B2/APS. Interacts (via C-terminus) with MPDZ (via the tenth PDZ
domain). Interacts (via phosphorylated tyrosine residues) with PIK3R1 and PIK3 catalytic subunit. Interacts (via
phosphorylated tyrosine) with CRK (isoform Crk-II), FYN, SHC1 and MATK/CHK (via SH2 domain). Interacts with LYN and
FES/FPS. Interacts (via phosphorylated tyrosine residues) with the protein phosphatases PTPN6/SHP-1 (via SH2 domain),
PTPN11/SHP-2 (via SH2 domain) and PTPRU. Interacts with PLCG1. Interacts with DOK1 and TEC
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 equatorial
and subacrosomal region of the sperm head
Miscellaneous: Numerous proteins are phosphorylated in response to KIT signaling, but it is not evident to determine
which are directly phosphorylated by KIT under in vivo conditions
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 Q9UM99
Alternative 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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10721

  • 4/40 DME Specific Peptides for KIT (P10721) (see all 40)
     EGGTYTF  ALYKNLL  RDLAARN  VAVKMLK 

    KIT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000288135   ENSP00000390987  
    Reactome Protein details: P10721
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant KIT Protein
    R&D Systems Recombinant & Natural Proteins for KIT (SCF R/c-kit)
    Enzo Life Sciences proteins for KIT
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): KIT
    OriGene Custom Protein Services for KIT 
    GenScript Custom Purified and Recombinant Proteins Services for KIT
    Novus Biologicals KIT Proteins
    Novus Biologicals KIT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KIT

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA14625290
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IEA--


    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: 
    EMD Millipore Kits and Assays for the Analysis of KIT
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems ELISAs for KIT (SCF R/c-kit)         (see all)
    GenScript KIT-Activity-based Kinase Assay for Compound Screening
    Cell Signaling Technology (CST) Sandwich ELISA Kits for KIT
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for KIT


    (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):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR013783 Ig-like_fold
     IPR000719 Prot_kinase_cat_dom

    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 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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 essential
    role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast
    cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate
    several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by
    phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits
    signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of
    STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular
    signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein
    phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of
    the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B.
    Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Present in an inactive conformation in the absence of bound ligand. KITLG/SCF binding leads to
    dimerization and activation by autophosphorylation on tyrosine residues. Activity is down-regulated by PRKCA-mediated
    phosphorylation on serine residues. Inhibited by imatinib/STI-571 (Gleevec) and sunitinib; these compounds maintain
    the kinase in an inactive conformation
    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 2.7.10.11 2 EC 2.7.102

    miRNA
    Products:
        
    miRTarBase miRNAs that target KIT:
    hsa-mir-221 (MIRT001780), hsa-mir-146b-5p (MIRT005371), hsa-mir-222 (MIRT001779)

    OriGene 3'-UTR Clone (see all 2): KIT
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIT
    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate KIT (see all 62):
    hsa-miR-142-5p hsa-miR-193a-3p hsa-miR-4272 hsa-miR-4305 hsa-miR-301a hsa-miR-759 hsa-miR-519a hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidKIT 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KIT (see all 7)
    OriGene shRNA RFP: KIT
    OriGene siRNA: KIT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KIT

    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 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KIT
    Search LifeMap BioReagents cell lines for 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 IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0004713protein tyrosine kinase activity TAS1717985
    GO:0004714transmembrane receptor protein tyrosine kinase activity IDA--
    GO:0004716receptor signaling protein tyrosine kinase activity TAS9438854
    GO:0005020stem cell factor receptor activity IEA--


    KIT for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for KIT:
     Decreased substrate adherent c  Decreased viability in HMC1.1   Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
         15/27 MGI mutant phenotypes (inferred from 104 alleles(MGI details for Kit) (see all 27):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    KIT for phenotypes           About GeneDecksing


    (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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, 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 33About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by FGFR
    8/12 pathways (see all 12)
    Signaling by FGFR1.00
    DAP12 signaling0.83
    Downstream signaling of activated FGFR0.92
    Signaling by EGFR in Cancer0.83
    Signaling by FGFR in disease0.91
    DAP12 interactions0.76
    Signaling by ERBB20.89
    Signaling by PDGF0.72
    2Apoptotic Pathways in Synovial Fibroblasts
    8/12 pathways (see all 12)
    Apoptotic Pathways in Synovial Fibroblasts1.00
    Cellular Apoptosis Pathway0.65
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    Mitochondrial Apoptosis0.73
    eIF2 Pathway0.60
    Telomerase Components in Cell Signaling0.72
    Rac1 Pathway0.58
    3PIP3 activates AKT signaling
    8/10 pathways (see all 10)
    PIP3 activates AKT signaling1.00
    PI3K/AKT activation0.97
    PI3K/AKT Signaling in Cancer1.00
    GAB1 signalosome0.96
    PI3K events in ERBB2 signaling1.00
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI3K events in ERBB4 signaling1.00
    Signaling by SCF-KIT0.72
    4GPCR Pathway
    GPCR Pathway1.00
    Estrogen Pathway0.55
    Ras Pathway0.62
    Pancreatic Adenocarcinoma0.55
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.53
    NFAT in Immune Response0.58
    P2Y Receptor Signaling0.38
    5Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for KIT
        Development EPO-induced MAPK pathway

    5/50 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KIT (see all 50)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    2 Cell Signaling Technology (CST) Pathways for KIT
        Lymphocyte Signaling
    Tyrosine Kinases / Adaptors

    1 GeneGo (Thomson Reuters) Pathway for KIT
        Development EPO-induced MAPK pathway

    3 BioSystems Pathways for KIT 
        Kit Receptor Signaling Pathway
    C-MYB transcription factor network
    Signaling events mediated by Stem cell factor receptor (c-Kit)

    5/32        Reactome Pathways for KIT (see all 32)
        Signaling by EGFR in Cancer
    Disease
    Signaling by ERBB2
    GAB1 signalosome
    PI3K/AKT activation

    2 PharmGKB Pathways for KIT
        Imatinib Pathway, Pharmacokinetics/Pharmacodynamics
    Sorafenib Pharmacodynamics

    5/6         Kegg Pathways  (Kegg details for KIT) (see all 6):
        Cytokine-cytokine receptor interaction
    Endocytosis
    Hematopoietic cell lineage
    Melanogenesis
    Pathways in cancer


    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 (P107211, 2, 3 ENSP000002881354) via UniProtKB, MINT, STRING, and/or I2D (see all 116)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279862, 3, ENSP000002743354MINT-8037290 MINT-8037249 I2D: score=6 STRING: ENSP00000274335
    PLCG1P191742, 3, ENSP000002440074MINT-8028837 I2D: score=4 STRING: ENSP00000244007
    CRKP461082, 3, ENSP000003005744MINT-8030415 I2D: score=3 STRING: ENSP00000300574
    GRB7Q144512, 3, ENSP000003107714MINT-8028863 I2D: score=3 STRING: ENSP00000310771
    KITLGP215831, 3, ENSP000002282804EBI-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 IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IDA--
    GO:0001541ovarian follicle development ISS--
    GO:0002318myeloid progenitor cell differentiation IEA--
    GO:0002320lymphoid progenitor cell differentiation IEA--
    GO:0002327immature B cell differentiation ISS--


    KIT for ontologies           About GeneDecksing



    (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

    EMD Millipore small molecules for KIT:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for KIT

    Browse Tocris compounds for KIT

    2 HMDB Compounds for KIT    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    7 DrugBank Compounds for KIT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    SunitinibSU11248 (see all 3)557795-19-4targetantagonist17367763 12873999 11752352 17545799 12748309 14753710
    ImatinibImatinib Mesylate (see all 3)152459-95-5targetantagonist multitarget17369583 17559139 16865565 16087693 17458563
    Sorafenib-- 284461-73-0targetantagonist17272980 17545544 17178882 17102120 17229632
    Dasatinib-- 302962-49-8targetantagonist16397263 16434489 17351742
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423
    Phosphonotyrosine-- 21820-51-9target--17139284 17016423
    NilotinibAMN-107 (see all 2)641571-10-0targetantagonist17699867

    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 

    (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

    miRNA
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    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate KIT (see all 62):
    hsa-miR-142-5p hsa-miR-193a-3p hsa-miR-4272 hsa-miR-4305 hsa-miR-301a hsa-miR-759 hsa-miR-519a hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidKIT 3' UTR sequence
    Inhib. RNA
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    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

    (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 imageBioGPS
    CGAP TAG: AGTCCTTGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    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
    10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20
    Tissue Anatomical Compartment CellCategory (developmental path)
    BloodPeripheral BloodErythroid Progenitor CellsBlood
    BloodPeripheral BloodMegakaryocyte-Erythroid Precursor CellsBlood
    BoneBone MarrowHematopoietic Stem CellsBlood
    Lateral Plate MesodermAorta-Gonad-MesonephrosHematopoietic Stem CellsBlood
    LiverLiver BudHematopoietic Stem CellsBlood
    OvaryAntral FollicleTheca CellsOvary
    OvaryOvigerous CordOogoniaFemale Gametocytes, Germ Cells
    Yolk SacDefinitive Yolk SacDefinitive Hematopoietic Stem CellsBlood
    BloodPeripheral BloodImmature B CellsBlood
    BloodPeripheral BloodB-cell Progenitor CellsBlood
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/29 LifeMap Cells (see all 29
    NameCategory
    Bone marrow-derived ALDH+ cells (ALD) (Adult Stem / Progenitor Cell)Bone
    Amniotic fluid stem cells (Primary Cell)Extraembryonic Tissues
    Human cardiac stem cells (Adult Stem / Progenitor Cell)Heart
    AS034 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Cardiosphere-derived cells (Primary Cell)Heart, Myocardium
    Human multipotent adipose-derived (hMAD) stem cells (Adult Stem / Progenitor Cell)Adipose
    Bone marrow-derived adherent progenitor cells (MultiStem) (Adult Stem / Progenitor Cell)Bone
    HSF-1 (UC01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    human Fetal Gonadal Stromal Cell (Primary Cell)Reproductive System
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)

    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 in
    round spermatids, elongating spermatids and spermatozoa (at protein level). Widely expressed. Detected in the
    hematopoietic system, the gastrointestinal system, in melanocytes and in germ cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including KIT (see all 8): 
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              Endothelial Cell Biology in human mouse rat
              Embryonic Stem Cells in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl 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) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIT gene
    FLT42  FGFR42  PDGFRB2  CSF1R2  FGFR32  PDGFRA2  RET2  KDR2  
    FGFR12  FGFR22  FLT32  FLT12  
    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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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):
    Cosmic IdAA Change
    1251p.V559I
    1294p.D579del
    22379p.D820H
    1290p.L576P
    1257p.V560D
    5/14 SABiosciences Cancer Mutation PCR Arrays containing KIT (see all 14):
    Hematopoietic Neoplasms
    Ovarian Cancer  
    Cancer Comprehensive Panel 384HT
    KIT Pathway
    Oncogene Panel 384HT
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing KIT:
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    Lung Cancer
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIT
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    (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

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    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

    1. 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)
    2. 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)
    3. 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)
    4. Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor. (PubMed id 16129412)1, 2, 9 Roskoski R. (2005)
    5. 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)
    6. 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)
    7. The tyrosine kinase FES is an essential effector of KITD816V proliferation signal. (PubMed id 17595334)1, 2, 9 Voisset E....De Sepulveda P. (2007)
    8. 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)
    9. 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)
    10. Piebaldism with deafness: molecular evidence for an expanded syndrome. (PubMed id 9450866)1, 2, 9 Spritz R.A. and Beighton P. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3815 HGNC: 6342 AceView: KIT Ensembl:ENSG00000157404 euGenes: HUgn3815
    ECgene: KIT Kegg: 3815 H-InvDB: KIT

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for KIT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KIT Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIT
    Wikipedia http://en.wikipedia.org/wiki/CD117

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



    (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),
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    About This Section

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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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