anoctamin 5

Summary
Gene Symbol
  • ANO5
Organism
Homo sapiens (human)
NCBI Gene
203859
PubChem
203859
Alliance of Genome Resources
JoGo
ANO5
TogoVar
ANO5
Annotation
Keyword
  • Cell membrane
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Limb-girdle muscular dystrophy
  • Osteogenesis imperfecta
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A804HKP2
A0A804HL91
Q75V66
  • Gnathodiaphyseal dysplasia 1 protein
  • Transmembrane protein 16E
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0070201 Miyoshi muscular dystrophy 3
DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L
DOID:0111338 isolated elevated serum creatine phosphokinase levels
DOID:0111533 gnathodiaphyseal dysplasia

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 6, 2026