ENSG00000272617


Homo sapiens

Features
Gene ID: ENSG00000272617
  
Biological name :COG8
  
Synonyms : COG8 / component of oligomeric golgi complex 8 / Q96MW5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q22.1
Gene start: 69326913
Gene end: 69339667
  
Corresponding Affymetrix probe sets: 219575_s_at (Human Genome U133 Plus 2.0 Array)   238863_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000305459
Ensembl peptide - ENSP00000457718
NCBI entrez gene - 84342     See in Manteia.
OMIM - 606979
RefSeq - NM_032382
RefSeq Peptide - NP_115758
swissprot - A0A024R6Z6
swissprot - H3BUN2
swissprot - Q96MW5
Ensembl - ENSG00000272617
  
Related genetic diseases (OMIM): 611182 - Congenital disorder of glycosylation, type IIh, 611182
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
 cog8ENSDARG00000002798Danio rerio
 ENSGALG00000043126Gallus gallus
 Cog8ENSMUSG00000031916Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
COG8 / component of oligomeric golgi complex 8ENSG0000021338086
AC026464.3ENSG0000026037125


Protein motifs (from Interpro)
Interpro ID Name
 IPR007255  Conserved oligomeric Golgi complex subunit 8
 IPR016159  Cullin repeat-like-containing domain superfamily
 IPR016632  Conserved oligomeric Golgi complex subunit 8, Metazoal and Viridiplantae


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0006891 intra-Golgi vesicle-mediated transport IBA
 biological_processGO:0015031 protein transport IEA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0017119 Golgi transport complex IBA
 cellular_componentGO:0032588 trans-Golgi network membrane TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network


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:0001137 Alternating esotropia 
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 HP:0001249 Mental retardation 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001272 Cerebellar atrophy 
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 HP:0001298 Encephalopathy 
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 HP:0002119 Ventriculomegaly 
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 HP:0002133 Status epilepticus 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0008150 Elevated serum transaminases during infections "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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