ENSG00000138675


Homo sapiens

Features
Gene ID: ENSG00000138675
  
Biological name :FGF5
  
Synonyms : FGF5 / fibroblast growth factor 5 / P12034
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q21.21
Gene start: 80266599
Gene end: 80336680
  
Corresponding Affymetrix probe sets: 208378_x_at (Human Genome U133 Plus 2.0 Array)   210310_s_at (Human Genome U133 Plus 2.0 Array)   210311_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398353
Ensembl peptide - ENSP00000311697
Ensembl peptide - ENSP00000423903
NCBI entrez gene - 2250     See in Manteia.
OMIM - 165190
RefSeq - NM_033143
RefSeq - NM_004464
RefSeq Peptide - NP_004455
RefSeq Peptide - NP_149134
swissprot - P12034
swissprot - H0Y9E2
Ensembl - ENSG00000138675
  
Related genetic diseases (OMIM): 190330 - Trichomegaly, 190330
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
 fgf5ENSDARG00000035377Danio rerio
 FGF5ENSGALG00000045521Gallus gallus
 Fgf5ENSMUSG00000029337Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FGF4 / P08620 / fibroblast growth factor 4ENSG0000007538829
FGF3 / P11487 / fibroblast growth factor 3ENSG0000018689529
FGF20 / Q9NP95 / fibroblast growth factor 20ENSG0000007857927
FGF6 / P10767 / fibroblast growth factor 6ENSG0000011124127
FGF10 / O15520 / fibroblast growth factor 10ENSG0000007019326
FGF16 / O43320 / fibroblast growth factor 16ENSG0000019646825
FGF7 / P21781 / fibroblast growth factor 7ENSG0000014028524
FGF9 / P31371 / fibroblast growth factor 9ENSG0000010267824
FGF14 / Q92915 / fibroblast growth factor 14ENSG0000010246622
FGF13 / Q92913 / fibroblast growth factor 13ENSG0000012968221
FGF12 / P61328 / fibroblast growth factor 12ENSG0000011427921
FGF11 / Q92914 / fibroblast growth factor 11ENSG0000016195821
FGF22 / Q9HCT0 / fibroblast growth factor 22ENSG0000007038820


Protein motifs (from Interpro)
Interpro ID Name
 IPR002209  Fibroblast growth factor family
 IPR008996  Cytokine IL1/FGF
 IPR028240  Fibroblast growth factor 5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008284 positive regulation of cell proliferation IGI
 biological_processGO:0008543 fibroblast growth factor receptor signaling pathway IEA
 biological_processGO:0010001 glial cell differentiation IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0023019 signal transduction involved in regulation of gene expression IEA
 biological_processGO:0036092 phosphatidylinositol-3-phosphate biosynthetic process IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0051781 positive regulation of cell division IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0005622 intracellular IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005104 fibroblast growth factor receptor binding IEA
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0016303 1-phosphatidylinositol-3-kinase activity TAS
 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:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000527 Long eyelashes "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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