KITLG KIT ligand [Homo sapiens (human)] - Gene

Summary

Official Symbol: KITLGprovided by HGNC
Official Full Name: KIT ligandprovided by HGNC
Primary source: HGNC:HGNC:6343
See related: Ensembl:ENSG00000049130 MIM:184745; AllianceGenome:HGNC:6343
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SF; MGF; SCF; SLF; DCUA; FPH2; FPHH; KL-1; Kitl; WS2F; SHEP7; DFNA69
Summary: 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]
Expression: Broad expression in lung (RPKM 24.5), colon (RPKM 14.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (88492793..88580471, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (88474752..88562405, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (88886570..88974248, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Detection of HPP1 mfcDNA can be used as a prognostic marker and an early marker for response (as early as 3-4 weeks after start of treatment compared with radiological staging after 12 or 24 weeks) to identify patients who will likely benefit from a combination chemotherapy with bevacizumab
Title: Methylated free-circulating HPP1 DNA is an early response marker in patients with metastatic colorectal cancer.
HPP1 tumor suppressive effects are mediated through JAK-STAT-Interferon pathways.
Title: The Tumor Suppressive Effects of HPP1 Are Mediated Through JAK-STAT-Interferon Signaling Pathways.
We were able to provide evidence that methylation of HLTF and especially HPP1 detected in serum is strongly correlated with cell death in CRC using LDH as surrogate marker
Title: Circulating cell-free methylated DNA and lactate dehydrogenase release in colorectal cancer.
Stem cell factor and cKIT modulate endothelial glycolysis in hypoxia.
Title: Stem cell factor and cKIT modulate endothelial glycolysis in hypoxia.
Effects of stem cell factor in follicular fluid and granulosa cells on oocyte maturity and clinical pregnancy.
Title: Effects of stem cell factor in follicular fluid and granulosa cells on oocyte maturity and clinical pregnancy.
Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human Skin Mast Cells.
Title: Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human Skin Mast Cells.
DAZAP1 facilitates the alternative splicing of KITLG to promote multiple myeloma cell proliferation via ERK signaling pathway.
Title: DAZAP1 facilitates the alternative splicing of KITLG to promote multiple myeloma cell proliferation via ERK signaling pathway.
KITLG Promotes Glomerular Endothelial Cell Injury in Diabetic Nephropathy by an Autocrine Effect.
Title: KITLG Promotes Glomerular Endothelial Cell Injury in Diabetic Nephropathy by an Autocrine Effect.
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Title: Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
The association of stem cell factor and soluble c-Kit (s-cKit) receptor serum concentrations with the severity and risk prediction of autism spectrum disorders.
Title: The association of stem cell factor and soluble c-Kit (s-cKit) receptor serum concentrations with the severity and risk prediction of autism spectrum disorders.

Submit: New GeneRIF Correction See all GeneRIFs (202)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 69 MedGen: C4225241 OMIM: 616697 GeneReviews: Not available	not available
Hyperpigmentation with or without hypopigmentation, familial progressive MedGen: C1840392 OMIM: 145250 GeneReviews: Not available	not available
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN MedGen: C2674081 OMIM: 611664 GeneReviews: Not available	not available
Waardenburg syndrome, IIa 2F MedGen: C5677013 OMIM: 619947 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study of testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of hair, eye and skin pigmentation in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies four new loci associated with testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Kitl (e-PCR), detects polymorphism
- UniSTS:261909

K-F2_K-R2 (e-PCR)
- UniSTS:29470

NoName (e-PCR)
- UniSTS:486177

MGF (e-PCR)
- UniSTS:266303

D12S1453 (e-PCR)
- UniSTS:2903

RH17708 (e-PCR)
- UniSTS:38758

NoName (e-PCR)
- UniSTS:481909

RH11244 (e-PCR)
- UniSTS:71098

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables stem cell factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in embryonic hemopoiesis	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEP Inferred from Expression Pattern more info	PubMed
involved_in mast cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mast cell migration	IEA Inferred from Electronic Annotation more info
involved_in mast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in melanocyte migration	IEA Inferred from Electronic Annotation more info
involved_in myeloid leukocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mast cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neural crest cell migration	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of hematopoietic progenitor cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myeloid leukocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: kit ligand

Names: c-Kit ligand; familial progressive hyperpigmentation 2; mast cell growth factor; steel factor; stem cell factor

NP_000890.1

EC 3.2.1.31

NP_003985.2

EC 3.2.1.31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012098.2 RefSeqGene

Range

4991..92669

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1379

mRNA and Protein(s)

NM_000899.5 → NP_000890.1 kit ligand isoform b precursor

See identical proteins and their annotated locations for NP_000890.1

Status: REVIEWED

Description

Transcript Variant: This variant (b) encodes the longer isoform (b) which contains the primary proteolytic-cleavage site; as a result, isoform b is largely a soluble product.

Source sequence(s)

AC024941, AK025245, BC126166, DC320486

Consensus CDS

CCDS31868.1

UniProtKB/Swiss-Prot

A0AV09, A8K2Q4, B7ZLM4, P21583, Q16487, Q68DZ2, Q7M4N8, Q9UQK7

Related

ENSP00000495951.1, ENST00000644744.1

Conserved Domains (1) summary

pfam02404
Location:1 → 273

SCF; Stem cell factor
NM_003994.6 → NP_003985.2 kit ligand isoform a precursor

See identical proteins and their annotated locations for NP_003985.2

Status: REVIEWED

Description

Transcript Variant: This variant (a) lacks an alternate in-frame exon, compared to variant b. Isoform a lacks the primary proteolytic-cleavage site; as a result, the protein encoded by isoform a is largely a membrane bound product.

Source sequence(s)

AC024941, AK025245, BC143899, DC320486

Consensus CDS

CCDS31867.1

Related

ENSP00000054216.5, ENST00000347404.10

Conserved Domains (1) summary

pfam02404
Location:1 → 245

SCF; Stem cell factor