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

KITLG Gene

protein-coding   GIFtS: 65
GCID: GC12M088823

KIT Ligand


(Previous symbol: MGF)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
KIT Ligand1 2     C-Kit Ligand2 3
MGF1 2 3 5     SF2 5
Mast Cell Growth Factor1 2 3     SHEP72 5
Stem Cell Factor1 2 3     FPH22
SCF2 3 5     KL-12
Familial Progressive Hyperpigmentation 21 2     Kitl2
Steel Factor1 2     

External Ids:    HGNC: 63431   Entrez Gene: 42542   Ensembl: ENSG000000491307   OMIM: 1847455   UniProtKB: P215833   

Export aliases for KITLG gene to outside databases

Previous GC identifers: GC12M088158 GC12M089338 GC12M087393 GC12M085953


(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 KITLG Gene:
This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a
pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed
to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its
continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for KITLG Gene: 
KITLG (KIT ligand) is a protein-coding gene. Diseases associated with KITLG include familial progressive hyper- and hypopigmentation, and hyperpigmentation, familial progressive, and among its related super-pathways are Kit Receptor Signaling Pathway and Rac1 Pathway. GO annotations related to this gene include growth factor activity and stem cell factor receptor binding.

UniProtKB/Swiss-Prot: SCF_HUMAN, P21583
Function: Ligand for the receptor-type protein-tyrosine kinase KIT. 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. KITLG/SCF binding can activate several signaling pathways. Promotes
phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of
the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases
MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5.
KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules
diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably
interleukins

Gene Wiki entry for KITLG (Stem cell factor) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KITLG gene promoter:
         MyoD   AP-2alpha   AP-2alphaA   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKITLG promoter sequence
   Search SABiosciences Chromatin IP Primers for KITLG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KITLG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q22   Ensembl cytogenetic band:  12q21.32   HGNC cytogenetic band: 12q22

KITLG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KITLG gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M088823:  view genomic region     (about GC identifiers)

Start:
88,886,570 bp from pter      End:
88,974,628 bp from pter
Size:
88,059 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SCF_HUMAN, P21583 (See protein sequence)
Recommended Name: Kit ligand precursor  
Size: 273 amino acids; 30899 Da
Subunit: Homodimer, non-covalently linked (Probable). Heterotetramer with KIT, binding two KIT molecules; thereby
mediates KIT dimerization and subsequent activation by autophosphorylation
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform 2: Cell membrane; Single-pass type I membrane protein (By similarity). Cytoplasm,
cytoskeleton (By similarity)
Subcellular location: Soluble KIT ligand: Secreted
Developmental stage: Acts in the early stages of hematopoiesis
3 PDB 3D structures from and Proteopedia for KITLG:
1EXZ (3D)        1SCF (3D)        2E9W (3D)    
Secondary accessions: A0AV09 A8K2Q4 B7ZLM4 Q16487 Q68DZ2 Q7M4N8 Q9UQK7
Alternative splicing: 3 isoforms:  P21583-1   P21583-2   P21583-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KITLG: NX_P21583

Explore proteomics data for KITLG at MOPED 

Post-translational modifications:

  • UniProtKB: A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain
  • UniProtKB: Found in two differentially glycosylated forms, LMW-SCF and HMW-SCF. LMW-SCF is fully N-glycosylated at Asn-145,
    partially N-glycosylated at Asn-90, O-glycosylated at Ser-167, Thr-168 and Thr-180, and not glycosylated at
    Asn-97 or Asn-118. HMW-SCF is N-glycosylated at Asn-118, Asn-90 and Asn-145, O-glycosylated at Ser-167, Thr-168
    and Thr-180, and not glycosylated at Asn-97
  • UniProtKB: A soluble form exists as a cleavage product of the extracellular domain
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21583

  • KITLG Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KITLG Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000890.1  NP_003985.2  

    ENSEMBL proteins: 
     ENSP00000228280   ENSP00000054216   ENSP00000474021   ENSP00000475042  
    Reactome Protein details: P21583
    Human Recombinant Protein Products for KITLG: 
    EMD Millipore Purified and/or Recombinant KITLG Protein
    R&D Systems Recombinant & Natural Proteins for KITLG (SCF/c-kit Ligand)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KITLG
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for KITLG
    GenScript Purified and Recombinant Proteins for KITLG
    Novus Biologicals KITLG Proteins
    Novus Biologicals KITLG Lysates
    Sino Biological Recombinant Protein for KITLG
    Sino Biological Cell Lysate for KITLG 
    ProSpec Recombinant Protein for KITLG
    Browse Proteins at Cloud-Clone Corp. 

    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:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane TAS--

    KITLG for ontologies           About GeneDecksing



    KITLG Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of KITLG
    R&D Systems Antibodies for KITLG (SCF/c-kit Ligand)
    Cell Signaling Technology (CST) Antibodies for KITLG  (SCF)
    OriGene Antibodies for KITLG
    OriGene Custom Antibody Services for KITLG
    GenScript Superior Antibodies for KITLG
    Novus Biologicals KITLG Antibodies
    Abcam antibodies for KITLG
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for KITLG
    LSBio Antibodies in human, mouse, rat for KITLG 

    Assay Products for KITLG: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KITLG
    R&D Systems Flow Cytometry Kits for KITLG (SCF/c-kit Ligand)         (see all)
    GenScript Custom Assay Services for KITLG
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR009079 4_helix_cytokine-like_core
     IPR003452 SCF
     IPR012351 4_helix_cytokine_core

    Graphical View of Domain Structure for InterPro Entry P21583

    ProtoNet protein and cluster: P21583

    1 Blocks protein domain: IPB003452 Stem cell factor

    UniProtKB/Swiss-Prot: SCF_HUMAN, P21583
    Similarity: Belongs to the SCF family


    KITLG for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCF_HUMAN, P21583
    Function: Ligand for the receptor-type protein-tyrosine kinase KIT. 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. KITLG/SCF binding can activate several signaling pathways. Promotes
    phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of
    the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases
    MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5.
    KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules
    diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably
    interleukins

         Summary:

    During embryonic development, KITLG as signaling molecule is secreted from the following cells: Pre-Granulosa Cells in Primordial Follicle, Sertoli cells in Seminiferous Tubules

    It affects the following cells: Primary Oocyte in Primordial Follicle, Primary Oocyte in Primary Follicle (see all 5).

    KITLG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Hematopoietic progenitor cells from Blood, BMP-induced cells from (see all).

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005173stem cell factor receptor binding NAS--
    GO:0005515protein binding IPI17662946
    GO:0008083growth factor activity IEA--
         
    KITLG for ontologies           About GeneDecksing


    Phenotypes:
         15/21 MGI mutant phenotypes (inferred from 59 alleles(MGI details for Kitl) (see all 21):
     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  mortality/aging 

    KITLG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KITLG: Kitltm3.1Pbes Kitltm2.2Sjm

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KITLG 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KITLG

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KITLG 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KITLG 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KITLG
    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate KITLG (see all 88):
    hsa-miR-323-3p hsa-miR-3678-3p hsa-miR-579 hsa-miR-548j hsa-miR-640 hsa-miR-128 hsa-miR-508-5p hsa-miR-548a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KITLG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KITLG

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KITLG
    Sirion Biotech Customized adenovirus for overexpression of KITLG

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for KITLG (see all 13)
    OriGene ORF clones in mouse, rat for KITLG
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KITLG (NM_000899)
    Sino Biological Human cDNA Clone for KITLG
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KITLG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KITLG
    Sirion Biotech Customized lentivirus for stable overexpression of KITLG 
                         Customized lentivirus expression plasmids for stable overexpression of KITLG 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KITLG
    Search LifeMap BioReagents cell lines for KITLG
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KITLG


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KITLG About   (see all 33)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling events mediated by Stem cell factor receptor (c-Kit)
    Kit Receptor Signaling Pathway0.37
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    3Signaling by FGFR
    Downstream signaling of activated FGFR0.92
    Downstream signal transduction0.90
    Signaling by FGFR0.92
    Signaling by PDGF0.85
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.84
    DAP12 signaling0.91
    Signaling by EGFR in Cancer0.83
    4PIP3 activates AKT signaling
    GAB1 signalosome0.93
    PI3K events in ERBB2 signaling0.88
    PI3K/AKT activation0.93
    PI3K events in ERBB4 signaling0.88
    PIP3 activates AKT signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI3K/AKT Signaling in Cancer0.88
    Signaling by SCF-KIT0.72
    5GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KITLG
        Selected targets of GCR-alpha
    Development EPO-induced MAPK pathway

    5/55 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KITLG (see all 55)
        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 KITLG
        Lymphocyte Signaling
    Tyrosine Kinases / Adaptors

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

    4 BioSystems Pathways for KITLG
        Cell cycle
    Kit Receptor Signaling Pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)
    C-MYB transcription factor network


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


    5         Kegg Pathways  (Kegg details for KITLG):
        Cytokine-cytokine receptor interaction
    PI3K-Akt signaling pathway
    Hematopoietic cell lineage
    Melanogenesis
    Pathways in cancer


    KITLG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KITLG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/34 Interacting proteins for KITLG (P215831, 3 ENSP000002282804) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KITP107211, 3, ENSP000002881354EBI-1379527,EBI-1379503 I2D: score=3 STRING: ENSP00000288135
    CLEC11AQ9Y2403, ENSP000002503404I2D: score=1 STRING: ENSP00000250340
    CMA1P239463, ENSP000002503784I2D: score=1 STRING: ENSP00000250378
    CSF2P041413, ENSP000002968714I2D: score=1 STRING: ENSP00000296871
    EPORP192353, ENSP000002221394I2D: score=1 STRING: ENSP00000222139
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001755neural crest cell migration IEA--
    GO:0002763positive regulation of myeloid leukocyte differentiation IEA--
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction TAS2208279
    GO:0007173epidermal growth factor receptor signaling pathway TAS--

    KITLG for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KITLG for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KITLG (SCF)

    10/118 Novoseek inferred chemical compound relationships for KITLG gene (see all 118)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylcellulose 81.5 63 7577648 (2), 7683924 (2), 9952030 (2), 1718490 (2) (see all 41)
    tyrosine 71 334 9444944 (4), 10921922 (3), 1721591 (3), 7526158 (3) (see all 99)
    imatinib 69.2 51 19956885 (3), 18830255 (2), 16818499 (2), 19118061 (2) (see all 30)
    pixy321 66.6 13 1383918 (6), 9922079 (1), 8692093 (1), 12881174 (1) (see all 6)
    filgrastim 63.8 92 10438709 (8), 9376574 (5), 9586908 (5), 10194427 (5) (see all 24)
    histamine 60.6 79 7522070 (6), 8876555 (4), 7573818 (3), 12550104 (3) (see all 38)
    pkh 2 60.4 5 8807087 (1), 9573006 (1), 7536490 (1)
    pbhp 57.6 4 7682456 (2)
    daniplestim 55.1 1 10781904 (1)
    gp 130 53.4 21 9389693 (2), 8642288 (2), 7535932 (1), 8547494 (1) (see all 13)

    Search CenterWatch for drugs/clinical trials and news about KITLG / SCF

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KITLG gene (2 alternative transcripts): 
    NM_000899.4  NM_003994.5  

    Unigene Cluster for KITLG:

    KIT ligand
    Hs.1048  [show with all ESTs]
    Unigene Representative Sequence: NM_000899
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378535(uc009zsn.3 uc001tav.3 uc001taw.3) ENST00000228280(uc009zso.1)
    ENST00000347404 ENST00000357116 ENST00000552044

    miRNA
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    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate KITLG (see all 88):
    hsa-miR-323-3p hsa-miR-3678-3p hsa-miR-579 hsa-miR-548j hsa-miR-640 hsa-miR-128 hsa-miR-508-5p hsa-miR-548a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector (see all 2): KITLG (NM_000899)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KITLG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KITLG
    Sirion Biotech Customized lentivirus for stable overexpression of KITLG 
                         Customized lentivirus expression plasmids for stable overexpression of KITLG 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KITLG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KITLG

    Additional mRNA sequence: 

    AF119835.1 AF400436.1 AF400437.1 AK025245.1 AK055903.1 AK127865.1 AK290319.1 AK293002.1 
    BC069733.1 BC069783.1 BC069797.1 BC074725.2 BC126166.1 BC143899.1 CR749222.1 M59964.1 
    S42571.1 S45995.1 

    8 DOTS entries:

    DT.405991  DT.211805  DT.86840824  DT.100707042  DT.421705  DT.121155851  DT.121155857  DT.86849774 

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

    BQ024940 CR613468 CB243467 BC069783 Z39030 CD617800 AI583137 BF448859 
    CD617798 NM_000899 CN482622 BC069733 AL597797 NM_003994 BC074725 AW131339 
    S42571 AA384587 BF115172 T28310 CD617804 BM564582 BX484955 AA224178 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KITLG    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
    SP1:                                                                                          
    SP2:        -                 -                                                               
    SP3:        -     -     -     -     -     -     -     -     -                                 
    SP4:                          -                                                               
    SP5:        -                                                                                 


    ECgene alternative splicing isoforms for KITLG

    (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

    KITLG expression in normal human tissues (normalized intensities)      KITLG embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATATATACAT
    KITLG Expression
    About this image


    KITLG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Septum   
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Collecting Duct Cells Renal Collecting Duct System
             Metanephros
             visceral organ/metanephros/nephrogenic zone   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Mesencephalic Floor Plate
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 4 entries
             Ureter
             visceral organ   
     
     Nose (Sensory Organs)    fully expand to see all 4 entries
             sensory organ/nose   

    See KITLG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KITLG

    SOURCE GeneReport for Unigene cluster: Hs.1048
        SABiosciences Expression via Pathway-Focused PCR Arrays including KITLG (see all 9): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Growth Factors in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Notch Signaling Targets 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 chordates.

    Orthologs for KITLG gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kitl1 , 5 kit ligand1, 5 89.13(n)1
    82.78(a)1
      10 (51.40 cM)5
    173111  NM_013598.21  NP_038626.11 
     1000156305 
    chicken
    (Gallus gallus)
    Aves KITLG1 KIT ligand 68.25(n)
    54.58(a)
      396028  NM_205130.1  NP_990461.1 
    lizard
    (Anolis carolinensis)
    Reptilia KITLG6
    KIT ligand
    45(a)
    1 ↔ 1
    5(33232291-33343024)
    African clawed frog
    (Xenopus laevis)
    Amphibia kitlg-prov2 KIT ligand 80.13(n)    BC044108.1 


    ENSEMBL Gene Tree for KITLG (if available)
    TreeFam Gene Tree for KITLG (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    UniProtKB/Swiss-Prot: SCF_HUMAN, P21583
    Polymorphism: Genetic variants in KITLG define the skin/hair/eye pigmentation variation locus 7 (SHEP7)
    [MIM:611664]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation,
    with a broad normal range that is subject to substantial geographic stratification. In the case of skin,
    individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the
    majority of variation in human eye and hair color is found among individuals of European ancestry, with most
    other human populations fixed for brown eyes and black hair


    10/1628 SNPs in KITLG are shown (see all 1628)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632374
    Familial progressive hyperpigmentation (FPH)4--see VAR_0632372 N S mis40--------
    rs720821391,2
    C--86008887(+) TCACC-/AAAAAAA 2 -- int10--------
    rs348514991,2
    C--86021396(+) GTCTC-/AAAAAA 2 -- int12Minor allele frequency- A:0.25NA 4
    rs362335601,2
    C--86022381(+) CTCTTATCAC/
            
    ATCAC
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs2012460411,2
    C--86022385(+) TATCAC/TATCAC 2 -- int10--------
    rs343295151,2
    C--86024386(+) AAAAAA/-GAAAA 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1458119301,2
    C--86024814(+) GAAAC-/TGTT  
            
    TGGAT
    2 -- int10--------
    rs628094611,2
    C--86028531(+) TAATT-/AACTCT 2 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs1113099791,2
    C--86028532(+) TAATTA/TACTCT 2 -- int10--------
    rs30573181,2
    C--86030950(-) CTTTG-/T/TT  
            
    TTTTT
    2 -- int1 trp31NA 2

    HapMap Linkage Disequilibrium report for KITLG (88886570 - 88974628 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KITLG:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv483111CNV Loss15286789


    Human Gene Mutation Database (HGMD): KITLG
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KITLG
    DNA2.0 Custom Variant and Variant Library Synthesis for KITLG

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 184745   
    OMIM disorders: 611664  145250  
    UniProtKB/Swiss-Prot: SCF_HUMAN, P21583
  • Familial progressive hyperpigmentation (FPH) [MIM:145250]: A disorder characterized by hyperpigmented
    patches in the skin, present in early infancy and increasing in size and number with age. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/159 diseases for KITLG (see all 159):    About MalaCards
    familial progressive hyper- and hypopigmentation    hyperpigmentation, familial progressive    mastocytosis    systemic mastocytosis
    urticaria pigmentosa    mast-cell sarcoma    indolent systemic mastocytosis    aggressive systemic mastocytosis
    good syndrome    mast-cell leukemia    cutaneous mastocytosis    leukemoid reaction
    urticaria    scabies    mn1    dysgerminoma
    aplastic anemia    gastrointestinal stromal tumor    piebaldism    myoepithelioma

    3 diseases from the University of Copenhagen DISEASES database for KITLG:
    Mastocytosis     Piebaldism     Leukemia

    KITLG for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/92 Novoseek inferred disease relationships for KITLG gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mastocytosis 79.3 35 9584135 (5), 7547385 (2), 9609630 (1), 11231001 (1) (see all 25)
    leukemia mast cell 72.4 2 7512180 (1), 7691885 (1)
    diamond-blackfan anemia 69 18 1370205 (4), 7544739 (3), 1718487 (2), 7691319 (2) (see all 7)
    mastocytosis systemic 66.8 7 8876560 (1), 12162685 (1), 12688351 (1), 7527672 (1) (see all 6)
    leukemia 65.6 112 8677752 (3), 7686791 (2), 20338948 (2), 7693028 (2) (see all 70)
    myeloid leukemia 61.6 19 8677752 (3), 1381238 (3), 7687773 (3), 8425202 (1) (see all 12)
    gastrointestinal stromal tumor 61.3 9 14686698 (1), 16127511 (1), 15743318 (1), 18602222 (1) (see all 6)
    myeloid leukemia chronic 57.5 16 9746786 (2), 16127511 (1), 7544854 (1), 12297464 (1) (see all 11)
    anemia aplastic 56.8 40 7532030 (3), 7522518 (2), 10027723 (2), 1378317 (2) (see all 19)
    mastocytoma 54.4 5 7547385 (2), 8809429 (1), 19397569 (1), 9371257 (1)

    Genetic Association Database (GAD): KITLG
    Human Genome Epidemiology (HuGE) Navigator: KITLG (13 documents)

    Export disorders for KITLG 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 KITLG gene, integrated from 9 sources (see all 1773):
    (articles sorted by number of sources associating them with KITLG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gain-of-function mutation of KIT ligand on melanin sy nthesis causes familial progressive hyperpigmentation. (PubMed id 19375057)1, 2, 3 Wang Z.Q....Kong X. (2009)
    2. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)1, 2, 4 Sulem P.... Stefansson K. (2007)
    3. Primary structure and functional expression of rat and human stem cell factor DNAs. (PubMed id 2208279)1, 2, 3 Martin F.H.... Zsebo K.M. (1990)
    4. Parathyroid hormone-regulated production of stem cell factor in human osteoblasts and osteoblast-like cells. (PubMed id 10049787)1, 2, 9 Blair H.C.... Dong S.S. (1999)
    5. Association study between keratinocyte-derived growth factor gene polymorphisms and susceptibility to vitiligo vulgaris in a Taiwanese population: potential involvement of stem cell factor. (PubMed id 19416273)1, 4, 9 Lan C.C....Yu H.S. (2009)
    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. Stem cell factor (SCF), a novel hematopoietic growth factor and ligand for c-kit tyrosine kinase receptor, maps on human chromosome 12 between 12q14.3 and 12qter. (PubMed id 1707188)1, 3, 9 Geissler E.N....Galli S.J. (1991)
    8. Structure of the active core of human stem cell factor and analysis of binding to its receptor kit. (PubMed id 10880433)1, 2, 9 Jiang X....Hendrickson W.A. (2000)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Variants near DMRT1, TERT and ATF7IP are associated w ith testicular germ cell cancer. (PubMed id 20543847)1, 4 Turnbull C....Rahman N. (2010)

    (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: 4254 HGNC: 6343 AceView: KITLG Ensembl:ENSG00000049130 euGenes: HUgn4254
    ECgene: KITLG Kegg: 4254 H-InvDB: KITLG

    (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 KITLG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KITLG Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KITLG gene:
    Search GeneIP for patents involving KITLG

    Licensable Technologies for KITLG gene:
    Weizmann Institute:Enrichment of Repopulating Stem Cells For Clinical Protocols
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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