ENSG00000049130


Homo sapiens

Features
Gene ID: ENSG00000049130
  
Biological name :KITLG
  
Synonyms : KITLG / KIT ligand / P21583
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q21.32
Gene start: 88492793
Gene end: 88580851
  
Corresponding Affymetrix probe sets: 207029_at (Human Genome U133 Plus 2.0 Array)   211124_s_at (Human Genome U133 Plus 2.0 Array)   226534_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494139
Ensembl peptide - ENSP00000474021
Ensembl peptide - ENSP00000495951
Ensembl peptide - ENSP00000475042
Ensembl peptide - ENSP00000054216
Ensembl peptide - ENSP00000228280
NCBI entrez gene - 4254     See in Manteia.
OMIM - 184745
RefSeq - NM_000899
RefSeq - NM_003994
RefSeq Peptide - NP_003985
RefSeq Peptide - NP_000890
swissprot - A0A024RBF5
swissprot - S4R442
swissprot - A0A024RBC0
swissprot - P21583
swissprot - S4R384
Ensembl - ENSG00000049130
  
Related genetic diseases (OMIM): 145250 - Hyperpigmentation with or without hypopigmentation, 145250
  611664 - [Skin/hair/eye pigmentation 7, blond/brown hair], 611664
  616697 - Deafness, autosomal dominant 69, unilateral or asymmetric, 616697
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 KITLGENSGALG00000011206Gallus gallus
 KitlENSMUSG00000019966Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003452  Stem cell factor
 IPR009079  Four-helical cytokine-like, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0001541 ovarian follicle development IEA
 biological_processGO:0001755 neural crest cell migration IEA
 biological_processGO:0002687 positive regulation of leukocyte migration IEA
 biological_processGO:0002763 positive regulation of myeloid leukocyte differentiation IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008584 male gonad development IEP
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0033026 negative regulation of mast cell apoptotic process IEA
 biological_processGO:0035162 embryonic hemopoiesis IDA
 biological_processGO:0035234 ectopic germ cell programmed cell death IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043406 positive regulation of MAP kinase activity IEA
 biological_processGO:0045636 positive regulation of melanocyte differentiation IEA
 biological_processGO:0045740 positive regulation of DNA replication IDA
 biological_processGO:0046579 positive regulation of Ras protein signal transduction IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0070668 positive regulation of mast cell proliferation IEA
 biological_processGO:0097192 extrinsic apoptotic signaling pathway in absence of ligand IEA
 biological_processGO:1902035 positive regulation of hematopoietic stem cell proliferation IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030175 filopodium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005125 cytokine activity IEA
 molecular_functionGO:0005173 stem cell factor receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000077 Abnormality of the kidneys "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000506 Telecanthus "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000957 Cafe-au-lait spots 
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0001003 Multiple lentigines 
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 HP:0001045 Vitiligo 
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 HP:0001053 Hypopigmented skin patches 
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 HP:0001100 Heterochromia iridis "Heterochromia iridis is a difference in the color of the iris in the two eyes." [HPO:curators]
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 HP:0002211 White forelock 
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 HP:0002216 Premature graying of hair 
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 HP:0002251 Congenital megacolon "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0004414 Abnormality of the pulmonary artery 
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 HP:0007505 Familial progressive hyperpigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000092009 CMA1 / P23946 / chymase 1  / reaction
 ENSG00000049130 KITLG / P21583 / KIT ligand  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / complex / reaction
 ENSG00000141738 GRB7 / Q14451 / growth factor receptor bound protein 7  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / complex / reaction
 ENSG00000154016 GRAP / Q13588 / GRB2-related adaptor protein  / complex / reaction
 ENSG00000157404 KIT / P10721 / KIT proto-oncogene receptor tyrosine kinase  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / complex / reaction
 ENSG00000106070 GRB10 / Q13322 / growth factor receptor bound protein 10  / complex / reaction
 ENSG00000185338 SOCS1 / O15524 / suppressor of cytokine signaling 1  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / complex / reaction
 ENSG00000151422 FER / P16591 / FER tyrosine kinase  / complex / reaction
 ENSG00000149554 CHEK1 / O14757 / checkpoint kinase 1  / complex / reaction
 ENSG00000182511 FES / P07332 / FES proto-oncogene, tyrosine kinase  / complex / reaction
 ENSG00000111252 SH2B3 / Q9UQQ2 / SH2B adaptor protein 3  / complex / reaction
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / complex / reaction
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex / reaction
 ENSG00000100985 MMP9 / P14780 / matrix metallopeptidase 9  / reaction
 ENSG00000135605 TEC / P42680 / tec protein tyrosine kinase  / complex / reaction
 ENSG00000170677 SOCS6 / O14544 / suppressor of cytokine signaling 6  / complex / reaction






 

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