collagen type XI alpha 2 chain

Summary
Gene Symbol
  • COL11A2
Organism
Homo sapiens (human)
NCBI Gene
1302
PubChem
1302
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Collagen
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Extracellular matrix
  • Glycoprotein
  • Hydroxylation
  • Metal-binding
  • Non-syndromic deafness
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Ribosomal protein
  • Signal
  • Stickler syndrome
Proteins
Displaying all 4 entries
UniProt Protein Name
A0A0G2JL78
P13942
Q4VXY6
A0A0C4DFS1
Gene Ontology (GO)
OrthoDB (Group)
Group level
Eukaryota
Group Name
collagen alpha
Functional Category
  • E: Amino acid transport and metabolism
  • I: Lipid transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive
DOID:0080046 Stickler syndrome
DOID:0080673 fibrochondrogenesis 2
DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant
DOID:0110509 autosomal recessive nonsyndromic deafness 53
DOID:0110545 autosomal dominant nonsyndromic deafness 13
DOID:2256 osteochondrodysplasia
DOID:674 cleft palate

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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