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 vari... See more...

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
  • SCF 2 3 4
  • Familial Progressive Hyperpigmentation 2 2 3
  • Steel Factor 2 3
  • C-Kit Ligand 3 4
  • Kit Ligand 3 4
  • DFNA69 2 3
  • FPH2 2 3
  • KL-1 2 3
  • Kitl 2 3
  • MGF 3 4
  • SLF 2 3
  • SF 2 3
  • SHEP7 3
  • KITLG 5
  • DCUA 3
  • FPHH 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, Familial Progressive and Deafness, Autosomal Dominant 69. Among its related pathways are RET signaling and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include cytokine activity and stem cell factor receptor binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for KITLG Gene

Genomics for KITLG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KITLG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J088577 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.7 2651 6.4 ZNF600 ZNF580 POLR2A ZIC2 ZBTB10 YY1 CEBPB FEZF1 ZNF341 ZFP64 KITLG HSALNG0092894-003 HSALNG0092903 ENSG00000281333 TMTC3
GH12J088559 Enhancer 0.6 Ensembl ENCODE 10.9 +21.0 21020 1.7 ZNF600 ATF2 HLF SCRT2 KITLG RNU1-117P HSALNG0092894-003 HSALNG0092903 ENSG00000281333 TMTC3
GH12J088624 Enhancer 0.6 Ensembl ENCODE 10.4 -43.8 -43750 2.4 GATA2 EP300 CEBPB HSALNG0092908-001 HSALNG0092908-002 RNU1-117P KITLG piR-51006-003 DUSP6
GH12J089279 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.8 -699.8 -699838 5 GABPA MAFF ZNF316 ZNF146 SPI1 MAFG MAFK GATA2 POLR2A HLF RNU7-120P RF00066-048 DUSP6 KITLG HSALNG0092928-001 LINC02458 piR-38351-108
GH12J088558 Enhancer 0.5 Ensembl 10.9 +22.3 22250 0.4 PKNOX1 HLF MTA1 PRDM10 ZBTB20 KITLG RNU1-117P HSALNG0092894-003 HSALNG0092903 ENSG00000281333 TMTC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KITLG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KITLG

Top Transcription factor binding sites by QIAGEN in the KITLG gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • GATA-1
  • MyoD

Genomic Locations for KITLG Gene

Latest Assembly
chr12:88,492,793-88,580,851
(GRCh38/hg38)
Size:
88,059 bases
Orientation:
Minus strand

Previous Assembly
chr12:88,886,570-88,974,248
(GRCh37/hg19 by Entrez Gene)
Size:
87,679 bases
Orientation:
Minus strand

chr12:88,886,570-88,974,628
(GRCh37/hg19 by Ensembl)
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.
  • 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.
  • A soluble form exists as a cleavage product of the extracellular domain.
  • Glycosylation at Asn90, Asn118, Asn145, Ser167, Thr168, Thr180, and Asn195
  • Modification sites at PhosphoSitePlus

Other Protein References for KITLG Gene

Antibodies for research

  • Abcam antibodies for KITLG
  • Santa Cruz Biotechnology (SCBT) Antibodies for KITLG

Protein products for research

  • Abcam proteins for KITLG

No data available for DME Specific Peptides for KITLG Gene

Domains & Families for KITLG Gene

Gene Families for KITLG Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KITLG Gene

InterPro:
Blocks:
  • Stem cell factor

Suggested Antigen Peptide Sequences for KITLG Gene

GenScript: Design optimal peptide antigens:
  • c-Kit ligand (SCF_HUMAN)

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

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.

Phenotypes From GWAS Catalog for KITLG Gene

Gene Ontology (GO) - Molecular Function for KITLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0005173 stem cell factor receptor binding IEA,IBA 21873635
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:
  • Kitl Kitl<tm1.1Sjm>
  • Kitl Kitl<tm3.1Pbes>
  • Kitl Kitl<tm2.2Sjm>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KITLG

Clone products for research

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 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KITLG Gene

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

Pathways & Interactions for KITLG Gene

PathCards logo

SuperPathways for KITLG Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
3 PI3K/AKT activation
4 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
5 ERK Signaling
.61
.61
.58
.51
.49
genes like me logo Genes that share pathways with KITLG: view

Pathways by source for KITLG Gene

55 Qiagen pathways for KITLG Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
2 Cell Signaling Technology pathways for KITLG Gene

Interacting Proteins for KITLG Gene

SIGNOR curated interactions for KITLG Gene

Activates:
Is activated by:

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

(69) Drugs for KITLG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(49) 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

mRNA/cDNA for KITLG Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KITLG

Clone products for research

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

Expression for KITLG Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KITLG

SOURCE GeneReport for Unigene cluster for KITLG Gene:

Hs.1048

Evidence on tissue expression from TISSUES for KITLG Gene

  • Nervous system(4.8)
  • Intestine(4.5)
  • Bone marrow(3.1)
  • Spleen(3)
  • Skin(3)
  • Blood(2.9)
  • Lung(2.9)
  • Kidney(2.9)
  • Lymph node(2.9)
  • Heart(2.8)
  • Muscle(2.7)
  • Stomach(2.5)
  • Liver(2.4)
  • Bone(2.4)
  • Gall bladder(2.1)
  • Thyroid gland(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
Regions:
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 29 30
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KITLG 29 30
  • 91.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KITLG 29 30
  • 90.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kitlg 29
  • 89.5 (n)
Mouse
(Mus musculus)
Mammalia Kitl 29 16 30
  • 89.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KITLG 30
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KITLG 30
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KITLG 29 30
  • 67.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KITLG 30
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kitlg 29
  • 49.48 (n)
Str.10824 29
African clawed frog
(Xenopus laevis)
Amphibia kitlg-prov 29
Species where no ortholog for KITLG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KITLG: view image
Alliance of Genome Resources:
Additional Orthologs for KITLG

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
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.
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).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KITLG Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
929966 Likely Benign: not specified 88,507,034(-) G/A
NM_000899.5(KITLG):c.708C>T (p.Tyr236=)
SYNONYMOUS
929967 Likely Benign: not specified 88,518,805(-) C/G
NM_000899.5(KITLG):c.255G>C (p.Leu85=)
SYNONYMOUS
rs1057520539 Pathogenic: not provided 88,545,773(-) A/T
NM_000899.5(KITLG):c.108T>A (p.Asn36Lys)
MISSENSE
rs11428619 Benign: not specified 88,532,513(-) C/CA
NM_000899.5(KITLG):c.130-21dup
INTRON
rs121918653 Pathogenic: Familial progressive hyperpigmentation with or without hypopigmentation. Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH) [MIM:145250] 88,545,774(-) T/Cp.Asn36Ser
NM_000899.5(KITLG):c.107A>G (p.Asn36Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KITLG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KITLG Gene

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

SNP Genotyping and Copy Number Assays for research

Disorders for KITLG Gene

MalaCards: The human disease database

(90) MalaCards diseases for KITLG Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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
  • 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 variants affecting the gene represented in this entry.
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for KITLG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KITLG: view

No data available for Genatlas for KITLG Gene

Publications for KITLG Gene

  1. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. (PMID: 26522471) Zazo Seco C … Kremer H (American journal of human genetics 2015) 2 3 4 72
  2. Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. (PMID: 19375057) Wang ZQ … Kong X (American journal of human genetics 2009) 2 3 4 72
  3. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. (PMID: 19483682) Kanetsky PA … Nathanson KL (Nature genetics 2009) 3 40 72
  4. 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
  5. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PMID: 17952075) Sulem P … Stefansson K (Nature genetics 2007) 3 4 40

Products for KITLG Gene

Sources for KITLG Gene