ENSG00000179855


Homo sapiens

Features
Gene ID: ENSG00000179855
  
Biological name :GIPC3
  
Synonyms : GIPC3 / GIPC PDZ domain containing family member 3 / Q8TF64
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.3
Gene start: 3585553
Gene end: 3593541
  
Corresponding Affymetrix probe sets: 1553058_at (Human Genome U133 Plus 2.0 Array)   236730_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000493901
Ensembl peptide - ENSP00000495068
Ensembl peptide - ENSP00000319254
NCBI entrez gene - 126326     See in Manteia.
OMIM - 608792
RefSeq - NM_133261
RefSeq - XM_005259492
RefSeq Peptide - NP_573568
swissprot - Q8TF64
Ensembl - ENSG00000179855
  
Related genetic diseases (OMIM): 601869 - Deafness, autosomal recessive 15, 601869
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
 gipc3ENSDARG00000053074Danio rerio
 GIPC3ENSGALG00000028029Gallus gallus
 Gipc3ENSMUSG00000034872Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GIPC1 / O14908 / GIPC PDZ domain containing family member 1ENSG0000012315963
GIPC2 / Q8TF65 / GIPC PDZ domain containing family member 2ENSG0000013796054


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR017379  PDZ domain-containing protein GIPC1/2/3
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0031982 vesicle IBA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000365 Hearing loss 
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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