ENSG00000100473


Homo sapiens

Features
Gene ID: ENSG00000100473
  
Biological name :COCH
  
Synonyms : COCH / cochlin / O43405
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q12
Gene start: 30874514
Gene end: 30895065
  
Corresponding Affymetrix probe sets: 1554241_at (Human Genome U133 Plus 2.0 Array)   1554242_a_at (Human Genome U133 Plus 2.0 Array)   205229_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496360
Ensembl peptide - ENSP00000493569
Ensembl peptide - ENSP00000494838
Ensembl peptide - ENSP00000216361
Ensembl peptide - ENSP00000379862
Ensembl peptide - ENSP00000451528
Ensembl peptide - ENSP00000451629
Ensembl peptide - ENSP00000451713
Ensembl peptide - ENSP00000452284
Ensembl peptide - ENSP00000452343
Ensembl peptide - ENSP00000452541
Ensembl peptide - ENSP00000452569
NCBI entrez gene - 1690     See in Manteia.
OMIM - 603196
RefSeq - XM_017021073
RefSeq - NM_001135058
RefSeq - NM_004086
RefSeq - XM_017021071
RefSeq - XM_017021072
RefSeq Peptide - NP_001334649
RefSeq Peptide - NP_004077
RefSeq Peptide - NP_001128530
swissprot - G3V5G6
swissprot - G3V5V4
swissprot - G3V5X3
swissprot - H0YJW4
swissprot - H0YJJ0
swissprot - O43405
swissprot - G3V4C4
Ensembl - ENSG00000100473
  
Related genetic diseases (OMIM): 601369 - Deafness, autosomal dominant 9, 601369
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
 cochENSDARG00000024032Danio rerio
 COCHENSGALG00000009920Gallus gallus
 CochENSMUSG00000020953Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
VIT / Q6UXI7 / vitrinENSG0000020522144
A8TX70 / COL6A5 / collagen type VI alpha 5 chainENSG0000017275223
COL6A3 / P12111 / collagen type VI alpha 3 chainENSG0000016335922
A6NMZ7 / COL6A6 / collagen type VI alpha 6 chainENSG0000020638422
Q99715 / COL12A1 / collagen type XII alpha 1 chainENSG0000011179917
Q05707 / COL14A1 / collagen type XIV alpha 1 chainENSG0000018795515
VWA2 / Q5GFL6 / von Willebrand factor A domain containing 2ENSG0000016581611
COL7A1 / Q02388 / collagen type VII alpha 1 chainENSG0000011427011
Q9P218 / COL20A1 / collagen type XX alpha 1 chainENSG000001012035


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR004043  LCCL domain
 IPR030743  Cochlin
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR036609  LCCL domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0042742 defense response to bacterium IEA
 biological_processGO:0045089 positive regulation of innate immune response IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding IDA


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:0000360 Tinnitus "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0005102 Cochlear degeneration 
Show

 HP:0008596 Sensorineural deafness, postlingual, progressive 
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 HP:0009591 Abnormality of the VIIIth cranial nerve "Abnormality of the vestibulocochlear nerve, the VIIIth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." [HPO:curators]
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 HP:0011462 Young adult onset "Onset of disease at the age of between 15 and 40 years." [DDD:hfirth]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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