• Gene id: 4254

Gene Summary

• Gene Symbol: KITLG   Gene   UCSC   Ensembl
• Aliases: DCUA, DFNA69, FPH2, FPHH, KL-1, Kitl, MGF, SCF, SF, SHEP7, SLF
• Gene name: KIT ligand
• Alternate names: kit ligand, c-Kit ligand, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor,
• Gene location: 12q21.32 (88580472: 88492792)     Exons: 10     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 184745

SNPs

rs4474514

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88560182G>A
NC_000012.12   g.88560182G>C
NC_000012.12   g.88560182G>T
NC_000012.11   g.88953959G>A
NC_000012.11   g.88953959G>C
NC_000012.11   g.88953959G>T
NG_012098.2   g.25280C>T
NG_012098.2   g.25280C>G
NG_012098.2   g.25280C>A
NG_012098.1   g.25280

rs1508595

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88592239G>A
NC_000012.12   g.88592239G>T
NC_000012.11   g.88986016G>A
NC_000012.11   g.88986016G>T|SEQ=[G/A/T]

rs1352947

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88566950C>G
NC_000012.12   g.88566950C>T
NC_000012.11   g.88960727C>G
NC_000012.11   g.88960727C>T
NG_012098.2   g.18512G>C
NG_012098.2   g.18512G>A
NG_012098.1   g.18512G>C
NG_012098.1   g.18512G>A|SEQ=[C/G/T]|GENE=KITLG

rs995030

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88496894A>G
NC_000012.11   g.88890671A>G
NG_012098.2   g.88568T>C
NG_012098.1   g.88568T>C
NM_000899.5   c.*325T>C
NM_000899.4   c.*325T>C
NM_003994.5   c.*325T>C|SEQ=[A/G]|GENE=KITLG

rs10506957

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88573230C>A
NC_000012.12   g.88573230C>T
NC_000012.11   g.88967007C>A
NC_000012.11   g.88967007C>T
NG_012098.2   g.12232G>T
NG_012098.2   g.12232G>A
NG_012098.1   g.12232G>T
NG_012098.1   g.12232G>A|SEQ=[C/A/T]|GENE=KITLG

Protein Summary

• Protein general information: P21583  
  • Name: Kit ligand (Mast cell growth factor) (MGF) (Stem cell factor) (SCF) (c Kit ligand) [Cleaved into: Soluble KIT ligand (sKITLG)]
  • Length: 273  
  • Mass: 30,899
  • Tissue specificity: Expressed in the central nervous system, muscle cells (heart and skeletal muscle), pancreas, prostate and lung. {ECO
• Sequence:

  MKKTQTWILTCIYLQLLLFNPLVKTEGICRNRVTNNVKDVTKLVANLPKDYMITLKYVPGMDVLPSHCWISEMVV
  QLSDSLTDLLDKFSNISEGLSNYSIIDKLVNIVDDLVECVKENSSKDLKKSFKSPEPRLFTPEEFFRIFNRSIDA
  FKDFVVASETSDCVVSSTLSPEKDSRVSVTKPFMLPPVAASSLRNDSSSSNRKAKNPPGDSSLHWAAMALPALFS
  LIIGFAFGALYWKKRQPSLTRAVENIQINEEDNEISMLQEKEREFQEV

• Structural information:
  • Interpro: IPR009079  IPR003452  
  • PDB: 1EXZ 1SCF 2E9W
  • PDBsum: 1EXZ 1SCF 2E9W
  • STRING: ENSP00000228280
• Other Databases: GeneCards:  KITLG  Malacards:  KITLG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0002687	positive regulation of leukocyte migration	IEA	biological process
GO:0002763	positive regulation of myeloid leukocyte differentiation	IEA	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005173	stem cell factor receptor binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008283	cell proliferation	TAS	biological process
GO:0008584	male gonad development	IEP	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0033026	negative regulation of mast cell apoptotic process	IEA	biological process
GO:0035162	embryonic hemopoiesis	IDA	biological process
GO:0035234	ectopic germ cell programmed cell death	IEA	biological process
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0045740	positive regulation of DNA replication	IDA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0070668	positive regulation of mast cell proliferation	IEA	biological process
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:1902035	positive regulation of hematopoietic stem cell proliferation	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0002687	positive regulation of leukocyte migration	IEA	biological process
GO:0002763	positive regulation of myeloid leukocyte differentiation	IEA	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005173	stem cell factor receptor binding	IEA	molecular function
GO:0005173	stem cell factor receptor binding	IEA	molecular function
GO:0005173	stem cell factor receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008283	cell proliferation	TAS	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008584	male gonad development	IEP	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0033026	negative regulation of mast cell apoptotic process	IEA	biological process
GO:0035162	embryonic hemopoiesis	IDA	biological process
GO:0035234	ectopic germ cell programmed cell death	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0045740	positive regulation of DNA replication	IDA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0070668	positive regulation of mast cell proliferation	IEA	biological process
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:1902035	positive regulation of hematopoietic stem cell proliferation	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005173	stem cell factor receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0008283	cell proliferation	TAS	biological process
GO:0008584	male gonad development	IEP	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0035162	embryonic hemopoiesis	IDA	biological process
GO:0045740	positive regulation of DNA replication	IDA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04072	Phospholipase D signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04640	Hematopoietic cell lineage
hsa04916	Melanogenesis
hsa05200	Pathways in cancer

Diseases

Associated diseases	References
Cancer	GAD: 19483682
Cancer (testicular)	GAD: 19483682
Cancer (breast)	GAD: 19196101
Deafness	OMIM: 184745
Endometriosis	INFBASE: 11076095
Female infertility	INFBASE: 19342032
Azoospermia	MIK: 22194441
Oligozoospermia	MIK: 24083421
Male factor infertility	MIK: 16905672
Spermatogenesis defects	MIK: 20384797
Spermatogenesis defects	MIK: 23869807
Spermatogenesis defects	MIK: 23869807
Spermatogenesis defects	MIK: 16709604
Non obstructive azoospermia	MIK: 23869807
Azoospermia	MIK: 16709604
Vitiligo	GAD: 21085187
Hyperpigmentation with or without hypopigmentation	OMIM: 184745
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Azoooligozoospermia	MIK: 22194441
Azoospermia	MIK: 23503944
Spermatogenic defects	MIK: 12080001
Male infertility	MIK: 16905672
Oligospermia	MIK: 24083421
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23869807	Spermatogenic failure, infertility			22 (16 idiopathic non-obstructive azoospermia, 4 normal spermatogenesis )	Male infertility	IL1-R1 CASP1 SCF
24083421	Oligospermia	rs3819392 in KIT, rs995030 and rs4474514 in KITLG	Chinese	577 ( 372 patients with idiopathic azoospermia or oligospermia, 205 fertile controls)	Male infertility	KIT KITLG
23869807	Spermatogenic defects			20 (16 patients with various types of NOA, 4 with normal spermatogenesis)	Male infertility	IL1-R1 CASP1 SCF IL1-RA
22194441	Azoo-oligozoospermia	KITLG markers rs995030 and rs4471514		1040 (426 TGCT cases and 614 controls with normal and abnormal sperm count)	Male infertility
20384797	Impaired spermatogenesis				Male infertility	SCF  c-kit
16905672	Male infertility	rs3819392, rs3134885, rs2237012, rs10506957 and rs995030		632 (167 idiopathic infertile men, 465 unrelated healthy controls)	Male infertility	KIT KITLG
16709604	Spermatogenic failure, azoospermia			49 azoospermic patients	Male infertility	SCF clusterin
12080001	Different stages of spermatogenesis				Male infertility
9510353	Role in spermatogenesis				Male infertility
23503944	Azoospermia			200 (100 NOA patients (as cases) and 100 OApatients with normal spermatogenesis (as controls))	Male infertility	Microarray
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881