otogelin

Summary
Gene Symbol
  • OTOG
Aliases
  • FLJ46346
  • OTGN
  • mlemp
Organism
Homo sapiens (human)
NCBI Gene
340990
HGNC
8516
PubChem
340990
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Glycoprotein
  • Non-syndromic deafness
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
Q6ZRI0
H9KVB3
Gene Ontology (GO)
OrthoDB (Group)
Group level
Eukaryota
Group Name
nidogen
Functional Category
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • Q: Secondary metabolites biosynthesis, transport and catabolism
Displaying 1 entry
Gene Ontology
cell-matrix adhesion
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0110474 autosomal recessive nonsyndromic deafness 18B
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000407 Sensorineural hearing impairment
HP:0000750 Delayed speech and language development
HP:0001756 Vestibular hypofunction
HP:0003577 Congenital onset
Displaying 1 entry
Disease ID Disease Name
OMIM:614945
  • autosomal recessive nonsyndromic hearing loss 18B

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024