ENSG00000112706


Homo sapiens

Features
Gene ID: ENSG00000112706
  
Biological name :IMPG1
  
Synonyms : IMPG1 / interphotoreceptor matrix proteoglycan 1 / Q17R60
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q14.1
Gene start: 75921115
Gene end: 76072678
  
Corresponding Affymetrix probe sets: 207054_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358966
Ensembl peptide - ENSP00000481913
Ensembl peptide - ENSP00000358980
Ensembl peptide - ENSP00000358968
NCBI entrez gene - 3617     See in Manteia.
OMIM - 602870
RefSeq - NM_001282368
RefSeq - NM_001563
RefSeq Peptide - NP_001269297
RefSeq Peptide - NP_001554
swissprot - Q5JSC4
swissprot - A0A087WYL3
swissprot - Q17R60
swissprot - A0A0R4J2E9
Ensembl - ENSG00000112706
  
Related genetic diseases (OMIM): 616151 - Macular dystrophy, vitelliform, 4, 616151
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
 IMPG1ENSGALG00000015897Gallus gallus
 Impg1ENSMUSG00000032343Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IMPG2 / Q9BZV3 / interphotoreceptor matrix proteoglycan 2ENSG0000008114827


Protein motifs (from Interpro)
Interpro ID Name
 IPR000082  SEA domain
 IPR000742  EGF-like domain
 IPR036364  SEA domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception TAS
 cellular_componentGO:0005576 extracellular region IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent 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:0000505 Impaired vision 
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 HP:0000551 Abnormal color vision 
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 HP:0001123 Visual field defects 
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 HP:0001139 Choroideremia 
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 HP:0007663 Decreased central vision 
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 HP:0007677 Vitelliform macular dystrophy 
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 HP:0007730 Reduced iris pigmentation 
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 HP:0007754 Macular dystrophy 
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 HP:0007899 Retinal nonattachment 
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 HP:0030515 Moderate visual impairment 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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