Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KITLG Gene

Aliases for KITLG Gene

  • KIT Ligand 2 3 5
  • Mast Cell Growth Factor 2 3 4
  • Stem Cell Factor 2 3 4
  • Familial Progressive Hyperpigmentation 2 2 3
  • Steel Factor 2 3
  • C-Kit Ligand 3 4
  • MGF 3 4
  • SCF 3 4
  • DFNA69 3
  • SHEP7 3
  • DCUA 3
  • FPH2 3
  • FPHH 3
  • KL-1 3
  • Kitl 3
  • SF 3

External Ids for KITLG Gene

Previous HGNC Symbols for KITLG Gene

  • MGF

Previous GeneCards Identifiers for KITLG Gene

  • GC12M088158
  • GC12M089338
  • GC12M088823
  • GC12M087393
  • GC12M085953

Summaries for KITLG Gene

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 Hyperpigmentation With Or Without Hypopigmentation and Autosomal Dominant Nonsyndromic Deafness 69. Among its related pathways are GPCR Pathway and RET signaling. GO annotations related to this gene include cytokine activity and stem cell factor receptor binding.

UniProtKB/Swiss-Prot for KITLG Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KITLG Gene

Genomics for KITLG Gene

Regulatory Elements for KITLG Gene

Enhancers for KITLG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G088559 0.6 ENCODE 10.8 +21.0 20963 1.5 HLF ZNF623 EP300 ATF2 JUND NFIC SCRT2 FOS ZNF600 RNU1-117P KITLG ENSG00000281333 ENSG00000199245
GH12G088624 0.2 ENCODE 10.4 -43.6 -43568 0.2 RNU1-117P KITLG ENSG00000278011 LOC105369886
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KITLG on UCSC Golden Path with GeneCards custom track

Promoters for KITLG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054960 1151 3000 ZFP64 SIN3A GLI4 ZNF2 ZNF48 YY1 ZNF121 GLIS2 GATA2 KLF7

Genomic Location for KITLG Gene

Chromosome:
12
Start:
88,492,793 bp from pter
End:
88,580,851 bp from pter
Size:
88,059 bases
Orientation:
Minus strand

Genomic View for KITLG Gene

Genes around KITLG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KITLG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KITLG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KITLG Gene

Proteins for KITLG Gene

  • Protein details for KITLG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21583-SCF_HUMAN
    Recommended name:
    Kit ligand
    Protein Accession:
    P21583
    Secondary Accessions:
    • A0AV09
    • A8K2Q4
    • B7ZLM4
    • Q16487
    • Q68DZ2
    • Q7M4N8
    • Q9UQK7

    Protein attributes for KITLG Gene

    Size:
    273 amino acids
    Molecular mass:
    30899 Da
    Quaternary structure:
    • Homodimer, non-covalently linked (Probable). Heterotetramer with KIT, binding two KIT molecules; thereby mediates KIT dimerization and subsequent activation by autophosphorylation.

    Three dimensional structures from OCA and Proteopedia for KITLG Gene

    Alternative splice isoforms for KITLG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KITLG Gene

Post-translational modifications for KITLG Gene

  • A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain.
  • A soluble form exists as a cleavage product of the extracellular domain.
  • 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.
  • Glycosylation at isoforms=2, 390, posLast=118118, posLast=145145, isoforms=2, 3167, posLast=168168, posLast=180180, and posLast=195195
  • Modification sites at PhosphoSitePlus

Other Protein References for KITLG Gene

Antibody Products

  • R&D Systems Antibodies for KITLG (SCF/c-kit Ligand)
  • Cell Signaling Technology (CST) Antibodies for KITLG (SCF)
  • Santa Cruz Biotechnology (SCBT) Antibodies for KITLG

No data available for DME Specific Peptides for KITLG Gene

Domains & Families for KITLG Gene

Protein Domains for KITLG Gene

Suggested Antigen Peptide Sequences for KITLG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21583

UniProtKB/Swiss-Prot:

SCF_HUMAN :
  • Belongs to the SCF family.
Family:
  • Belongs to the SCF family.
genes like me logo Genes that share domains with KITLG: view

No data available for Gene Families for KITLG Gene

Function for KITLG Gene

Molecular function for KITLG Gene

UniProtKB/Swiss-Prot 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.

LifeMap Function Summary for KITLG Gene

During embryonic development, KITLG as signaling molecule is secreted from the following cells
KITLG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005125 cytokine activity IEA --
GO:0005173 stem cell factor receptor binding IEA --
GO:0005515 protein binding IPI 17662946
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with KITLG: view
genes like me logo Genes that share phenotypes with KITLG: view

Human Phenotype Ontology for KITLG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KITLG Gene

MGI Knock Outs for KITLG:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KITLG Gene

Localization for KITLG Gene

Subcellular locations from UniProtKB/Swiss-Prot for KITLG Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Single-pass type I membrane protein. Cell projection, lamellipodium. Cell projection, filopodium.
Soluble KIT ligand: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KITLG gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 4
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA,IDA 26522471
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KITLG: view

Pathways & Interactions for KITLG Gene

SuperPathways for KITLG Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 GAB1 signalosome
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with KITLG: view

SIGNOR curated interactions for KITLG Gene

Activates:

Gene Ontology (GO) - Biological Process for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001541 ovarian follicle development IEA --
GO:0001755 neural crest cell migration IEA --
GO:0002687 positive regulation of leukocyte migration IEA --
GO:0002763 positive regulation of myeloid leukocyte differentiation IEA --
genes like me logo Genes that share ontologies with KITLG: view

Drugs & Compounds for KITLG Gene

(66) Drugs for KITLG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(52) Additional Compounds for KITLG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KITLG: view

Transcripts for KITLG Gene

Unigene Clusters for KITLG Gene

KIT ligand:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KITLG Gene

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

Relevant External Links for KITLG Gene

GeneLoc Exon Structure for
KITLG
ECgene alternative splicing isoforms for
KITLG

Expression for KITLG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KITLG Gene

mRNA differential expression in normal tissues according to GTEx for KITLG Gene

This gene is overexpressed in Esophagus - Muscularis (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KITLG Gene



NURSA nuclear receptor signaling pathways regulating expression of KITLG Gene:

KITLG

SOURCE GeneReport for Unigene cluster for KITLG Gene:

Hs.1048

Evidence on tissue expression from TISSUES for KITLG Gene

  • Nervous system(4.7)
  • Intestine(4.4)
  • Bone marrow(3.3)
  • Blood(3.1)
  • Skin(2.9)
  • Spleen(2.9)
  • Lung(2.7)
  • Lymph node(2.6)
  • Heart(2.3)
  • Kidney(2.2)
  • Muscle(2.1)
  • Liver(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KITLG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
Organs:
Head and neck:
  • brain
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • nail
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with KITLG: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for KITLG Gene

Orthologs for KITLG Gene

This gene was present in the common ancestor of chordates.

Orthologs for KITLG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KITLG 34 35
  • 99.88 (n)
dog
(Canis familiaris)
Mammalia KITLG 34 35
  • 91.33 (n)
cow
(Bos Taurus)
Mammalia KITLG 34 35
  • 90.6 (n)
rat
(Rattus norvegicus)
Mammalia Kitlg 34
  • 89.5 (n)
mouse
(Mus musculus)
Mammalia Kitl 34 16 35
  • 89.13 (n)
oppossum
(Monodelphis domestica)
Mammalia KITLG 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KITLG 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves KITLG 34 35
  • 67.16 (n)
lizard
(Anolis carolinensis)
Reptilia KITLG 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kitlg 34
  • 49.48 (n)
Str.10824 34
African clawed frog
(Xenopus laevis)
Amphibia kitlg-prov 34
Species where no ortholog for KITLG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KITLG Gene

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

Paralogs for KITLG Gene

No data available for Paralogs for KITLG Gene

Variants for KITLG Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KITLG Gene

SCF_HUMAN-P21583
A non-coding SNP (dbSNP:rs12821256) has been shown to be associated with classic blond hair color in Europeans. This SNP is located 350 kb upstream from KITLG, in an enhancer specifically active in the hair follicle environment. It alters a LEF1 binding site, reducing LEF1 responsiveness in cultured keratinocytes. This SNP is not associated with eye pigmentation. It is most prevalent in Northern Europe (PubMed:24880339).
SCF_HUMAN-P21583
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.

Sequence variations from dbSNP and Humsavar for KITLG Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121918653 Pathogenic, Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH) [MIM:145250] 88,545,774(-) TAATA(A/G)TGTAA reference, missense
rs730882156 Pathogenic 88,545,783(-) TCGTG(C/T)GACTA reference, missense
rs730882157 Pathogenic 88,545,781(-) GTGTG(A/C)CTAAT reference, missense
rs864309653 Pathogenic 88,518,757(-) GCTTG(AGTAATTATTCCATCATA/T)GACAA reference, frameshift-variant
rs864309654 Pathogenic 88,518,858(-) AAGTC(-/ATT)GTTGG cds-indel

Structural Variations from Database of Genomic Variants (DGV) for KITLG Gene

Variant ID Type Subtype PubMed ID
esv2761760 CNV loss 21179565
nsv483111 CNV loss 15286789
nsv559704 CNV gain 21841781

Variation tolerance for KITLG Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KITLG Gene

Human Gene Mutation Database (HGMD)
KITLG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KITLG

Disorders for KITLG Gene

MalaCards: The human disease database

(65) MalaCards diseases for KITLG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperpigmentation with or without hypopigmentation
  • hyperpigmentation with or without hypopigmentation, familial progressive
autosomal dominant nonsyndromic deafness 69
  • autosomal dominant deafness 69
familial progressive hyperpigmentation
  • melanosis diffusa congenita
waardenburg syndrome, type 2e, with or without neurologic involvement
  • waardenburg syndrome type 2e
dfna69 nonsyndromic hearing loss and deafness
  • dcua
- elite association - COSMIC cancer census association via MalaCards
Search KITLG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCF_HUMAN
  • Deafness, congenital, unilateral or asymmetric (DCUA) [MIM:616697]: An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss. {ECO:0000269 PubMed:26522471}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH) [MIM:145250]: A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. {ECO:0000269 PubMed:19375057}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KITLG

Genetic Association Database (GAD)
KITLG
Human Genome Epidemiology (HuGE) Navigator
KITLG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KITLG
genes like me logo Genes that share disorders with KITLG: view

No data available for Genatlas for KITLG Gene

Publications for KITLG Gene

  1. Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. (PMID: 19375057) Wang Z.-Q. … Kong X. (Am. J. Hum. Genet. 2009) 2 3 4 64
  2. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PMID: 17952075) Sulem P. … Stefansson K. (Nat. Genet. 2007) 3 4 46 64
  3. Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor. (PMID: 17662946) Yuzawa S. … Schlessinger J. (Cell 2007) 3 4 22 64
  4. Structure of the active core of human stem cell factor and analysis of binding to its receptor kit. (PMID: 10880433) Jiang X. … Hendrickson W.A. (EMBO J. 2000) 3 4 22 64
  5. Parathyroid hormone-regulated production of stem cell factor in human osteoblasts and osteoblast-like cells. (PMID: 10049787) Blair H.C. … Dong S.S. (Biochem. Biophys. Res. Commun. 1999) 3 4 22 64

Products for KITLG Gene

Sources for KITLG Gene

Content
Loading form....