otogelin

Summary
Gene Symbol
  • OTOG
Aliases
  • FLJ46346
  • OTGN
  • mlemp
Organism
Homo sapiens (human)
External Links
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)
Disease
Disease Ontology
Displaying entries 1 - 10 of 141 in total
DO ID Disease Name Source
DOID:2841 asthma
DOID:0050564 autosomal dominant nonsyndromic deafness
DOID:0050565 autosomal recessive nonsyndromic deafness
DOID:0050566 X-linked nonsyndromic deafness
DOID:0060193 amyotrophic lateral sclerosis type 1
DOID:0060690 autosomal dominant auditory neuropathy 1
DOID:0110462 autosomal recessive nonsyndromic deafness 101
DOID:0110463 autosomal recessive nonsyndromic deafness 102
DOID:0110464 autosomal recessive nonsyndromic deafness 103
DOID:0110465 autosomal recessive nonsyndromic deafness 104
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: August 19, 2024