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

KITLG Gene

protein-coding   GIFtS: 67
GCID: GC12M088823

KIT ligand


(Previous symbol: MGF)
 Explore 189 diseases affiliated with
KITLG via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KITLG    

Aliases
for KITLG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
KIT Ligand1 2     Mast Cell Growth Factor2 3
MGF1 2 3 5     Stem Cell Factor2 3
SCF1 2 3 5     C-Kit Ligand2 3
SF1 2 5     SHEP72 5
FPH21 2     Familial Progressive Hyperpigmentation 22
KL-11 2     Steel Factor2
Kitl1 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


Summaries
for KITLG gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KITLG:
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)

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)


Genomic Views
for KITLG gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  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 plasmid: KITLG 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:
 88,885,885 bp from pter      End:
 88,974,628 bp from pter
Size:
 88,744 bases      Orientation:
 minus strand

Proteins
for KITLG gene

(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: 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

Post-translational modifications:

  • A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain1
  • 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-971
  • A soluble form exists as a cleavage product of the extracellular domain1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21583

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

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

    ENSEMBL proteins: 
     ENSP00000367796   ENSP00000228280   ENSP00000054216  
    Reactome Protein details: P21583
    Human Recombinant Protein Products: 
    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 (see all 2): KITLG
    OriGene Custom Protein Services for KITLG 
    GenScript Purified and Recombinant Proteins for KITLG
    Novus Biologicals KITLG Proteins
    Novus Biologicals KITLG Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for KITLG
    Uscn Proteins for KITLG

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    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 (see all 4): KITLG
    OriGene Custom Antibody Services for KITLG 
    GenScript Superior Antibodies for KITLG
    Novus Biologicals KITLG Antibodies
    Abcam antibodies for KITLG 
    Uscn Antibodies for KITLG
    ThermoFisher Antibody for KITLG

    Assay Products for KITLG: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    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
    Uscn ELISAs and CLIAs for KITLG

    Protein Domains /
    Families
    for KITLG gene

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

    3 InterPro domains/families:
     IPR012351 4_helix_cytokine_core
     IPR009079 4_helix_cytokine-like_core
     IPR003452 SCF

    Graphical View of Domain Structure for InterPro Entry P21583

    ProtoNet protein and cluster: P21583

    1 Blocks protein family: IPB003452 Stem cell factor

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


    Function
    for KITLG gene

    (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: 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 Primary Follicle, Primary Oocyte in Primordial Follicle (see all 5).

    KITLG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Enriched hematopoietic progenitors, Brown adipocyte-like cells (see all 22).

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): KITLG
    Browse MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KITLG (see all 4)
    OriGene shRNA RFP: KITLG
    OriGene siRNA: KITLG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KITLG

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

    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 KITLG (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KITLG (see all 2)
    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 

    Cell Line
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    Search LifeMap BioReagents cell lines for KITLG

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KITLG

    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


    Animal Models:
         Mouse knock-outs for KITLG: Kitltm3.1Pbes Kitltm2.2Sjm
         15/21 MGI mutant phenotypes (inferred from 58 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


    Pathways & Interactions
    for KITLG gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 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 - 5/30 super-pathways (see all 30) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    8/14 pathways (see all 14)
    		Apoptotic Pathways in Synovial Fibroblasts1.00
    		ERK5 Signaling0.61
    		p53 Mediated Apoptosis0.84
    		eIF2 Pathway0.60
    		Mitochondrial Apoptosis0.73
    		Rac1 Pathway0.58
    		Telomerase Components in Cell Signaling0.72
    		Nuclear Receptor Activation by Vitamin-A0.57
    2Signaling 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
    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
    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

    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

    3 BioSystems Pathways for KITLG 
        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


    4         Kegg Pathways  (Kegg details for KITLG):
        Cytokine-cytokine receptor interaction
    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): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development ----
    GO:0001755neural crest cell migration IEA--
    GO:0002763positive regulation of myeloid leukocyte differentiation IEA--
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction TAS2208279


    KITLG for ontologies           About GeneDecksing



    Drugs & Compounds
    for KITLG gene

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

    KITLG for compounds           About GeneDecksing

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

    Browse Tocris compounds for KITLG
    10/118 Novoseek 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 

    Transcripts
    for KITLG gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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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    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KITLG (see all 4)
    OriGene shRNA RFP: KITLG
    OriGene siRNA: KITLG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KITLG
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KITLG (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KITLG (see all 2)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KITLG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KITLG 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KITLG
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KITLG
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KITLG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KITLG

    Additional cDNA 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):

    AA384587 CD617800 BC069733 BM564582 CN482622 AW131339 NM_000899 NM_003994 
    Z39030 BF115172 CR613468 CD617798 AI583137 BC074725 CD617804 AL597797 
    CB243467 BF448859 BQ024940 T28310 BC069783 S42571 BQ016775 BX455392 

    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

    Expression
    for KITLG gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KITLG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATATATACAT

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

    KITLG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/19 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 19) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Lateral Plate MesodermLateral Plate MesodermLateral Plate Mesechymal Stem CellsAdipose
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    OvaryPrimordial FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    TestisSeminiferous TubulesSertoli cellsTestis
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    Early Embryo (Zygote)Morula8-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)MorulaMorula CellsEarly Embryo
    BrainCerebral CortexBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Sclerotome cells (Primary Cell)Bone, Cartilage, Somite
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KITLG
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    In Situ
    Assay Products:     
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    Orthologs
    for KITLG gene

    (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 5/12 species (see all 12)    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 --
    --
    		 --
    		 50(a)
    42(a)
    		 many → 1
    many → 1
    		 5(33276219-33276380)
    5(33321824-33337662)
    African clawed frog
    (Xenopus laevis)    		 Amphibia kitlg-prov2 KIT ligand 80.13(n)    BC044108.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii kitlga6
    kitlgb6
    		 kit ligand b
    		 21(a)
    18(a)
    		 many → 1
    many → 1
    		 25(18606196-18627827)
    4(8580522-8586374)


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

    Paralogs
    for KITLG gene

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

    Genomic Variants
    for KITLG gene

    (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

    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


    10/1346 NCBI SNPs in KITLG are shown (see all 1346)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs123441,2
    		C,F,O,H,--85953621(-) TACTCA/GCTAAA 2 -- ut31 ese318Minor allele frequency- G:0.07MN NS EA NA WA 2296
    rs734371991,2
    		C,--85954029(+) CCACTG/TTCCAA 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs111049041,2
    		C,F,H,--85954382(+) AACAAG/TAACAG 2 -- ut316Minor allele frequency- T:0.03NS EA WA NA 634
    rs13887891,2
    		C,F,A,H,--85954873(+) CTTACT/CAAAAC 2 -- ut3118Minor allele frequency- C:0.06MN NA NS EA WA 2294
    rs731994051,2
    		C,F,--85955149(+) GAGAAT/CCNNNN 2 -- ut311Minor allele frequency- C:0.07NA 120
    rs413069421,2
    		--85955191(+) GAAACC/TTTCCA 2 -- ut310--------
    rs764827751,2
    		--85955681(+) CTGAAA/GCCATT 2 -- ut310--------
    rs734372001,2
    		C,--85956816(+) AACACG/AATTTA 2 -- ut312Minor allele frequency- A:0.04WA 120
    rs743168431,2
    		--85957099(+) TGACAC/TGTTGC 2 -- ut310--------
    rs111049051,2
    		C,F,H,--85957239(+) AGAGAC/GCAGGA 2 -- ut31 ese323Minor allele frequency- G:0.06NA NS EA WA 2650

    HapMap Linkage Disequilibrium report for KITLG (88885885 - 88974628 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KITLG
         1 CNV: 0165
    Human Gene Mutation Database (HGMD): KITLG

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KITLG
    DNA2.0 Custom Variant and Variant Library Synthesis for KITLG

    Disorders / Diseases
    for KITLG gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KITLG for disorders           About GeneDecksing

    OMIM gene information: 184745   
    OMIM disorders: 611664  145250  
    UniProtKB/Swiss-Prot: SCF_HUMAN, P21583
  • Defects in KITLG are the cause of familial progressive hyperpigmentation (FPH) [MIM:145250]; also called
    • melanosis universalis hereditaria (MUH). FPH is an autosomal-dominantly inherited disorder characterized by
    hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age

    20/189 diseases for KITLG (see all 189):    About MalaCards
    skin/hair/eye pigmentation 7, blond/brown hair    cafe-au-lait spots    diamond-blackfan anemia    pure red-cell aplasia
    hematopoiesis    hyperpigmentation, familial progressive    severe combined immunodeficiency    dyskeratosis congenita
    langerhans-cell histiocytosis    indolent systemic mastocytosis    perivascular epithelioid cell tumor    mastocytosis
    polycythemia vera    gastrointestinal stromal tumor    systemic mastocytosis    fibrous histiocytoma
    mast-cell sarcoma    sclerosing cholangitis    urticaria pigmentosa    leukemoid reaction

    7 diseases from the University of Copenhagen DISEASES database for KITLG:
    Mastocytosis     Leukemia     Anemia     Piebaldism
    Bone marrow disease     Thrombocytopenia     Neutropenia

    10/92 Novoseek 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

    Publications
    for KITLG gene

    (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 1763):
    (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. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)1, 2 Sulem P.... Stefansson K. (2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Signal transduction via the stem cell factor receptor/c-Kit. (PubMed id 15526160)1, 2 Ronnstrand L. (2004)

    External Searches for KITLG gene

    (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)

    Genome Databases showing KITLG gene

    (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

    Other Databases showing KITLG gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KITLG gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KITLG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KITLG Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for KITLG gene

    (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



    Products
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    About This Section

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