Collagen alpha-1(II) chain

Summary
UniProt ID
P02458
Gene Symbol
  • COL2A1
Gene ID
1280
Organism
Homo sapiens (human)
GlyConnect
GlyGen
P02458
PubChem
P02458
The O-GlcNAc Database
P02458
RaftProt
P02458
Re-Glyco
P02458
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Calcium
  • Cataract
  • Collagen
  • Deafness
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Extracellular matrix
  • Glycoprotein
  • Hydroxylation
  • Metal-binding
  • Reference proteome
  • Repeat
  • Signal
  • Stickler syndrome
Gene Ontology (GO)
Sequence
MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKGSAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL
Glycosylation Sites
Displaying entries 11 - 17 of 17 in total
Position Description PubMed ID GlyTouCan ID Source
608 O-linked (Gal...) hydroxylysine
620 O-linked (Gal...) hydroxylysine
724
788
814
1130 O-linked (Gal...) hydroxylysine
1388
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 3 entries
Pathway Name Organism
Assembly of collagen fibrils and other multimeric structures Homo sapiens
Collagen biosynthesis and modifying enzymes Homo sapiens
Collagen chain trimerization Homo sapiens
Disease
Displaying entries 1 - 10 of 21 in total
DO ID Disease Name Source
DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type
DOID:0080045 Kniest dysplasia
DOID:0080046 Stickler syndrome
DOID:0080056 achondrogenesis type II
DOID:0080676 Stickler syndrome 1
DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness
DOID:0111508 Torrance type platyspondylic dysplasia
DOID:0112195 spondyloperipheral dysplasia
DOID:0112281 spondyloepiphyseal dysplasia Stanescu type
DOID:10159 osteonecrosis

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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: April 7, 2025