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collagen type VI alpha 2 chain

Summary

Gene Symbol

COL6A2

Organism

Homo sapiens (human)

External Links

NCBI Gene

1292

PubChem

1292

Alliance of Genome Resources

HGNC:2212

Annotation

Keyword

Alternative splicing
Cell adhesion
Collagen
Congenital muscular dystrophy
Direct protein sequencing
Disease variant
Extracellular matrix
Glycoprotein
Hydroxylation
Membrane
Phosphoprotein
Reference proteome
Repeat
Signal

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A384MDP3
P12110

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
response to glucose	IEA
response to UV	IEA
cell adhesion	IEA
neuron apoptotic process	IEA

GO Hierarchy

biological process

cellular process [inference]

cell adhesion

signal transduction [inference]

intracellular signal transduction [inference]

phosphatidylinositol 3-kinase/protein kinase B signal transduction

cell death [inference]

programmed cell death [inference]

apoptotic process [inference]

neuron apoptotic process

response to stimulus [inference]

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

response to UV

response to chemical [inference]

response to organic substance [inference]

response to carbohydrate [inference]

response to monosaccharide [inference]

response to hexose [inference]

response to glucose

response to oxygen-containing compound [inference]

response to carbohydrate [inference]

response to monosaccharide [inference]

response to hexose [inference]

response to glucose

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

phosphatidylinositol 3-kinase/protein kinase B signal transduction

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GO Term	Evidence Code	PMID
sarcolemma	IEA
protein-containing complex	IPI	18400749
extracellular vesicle	HDA	24769233
collagen-containing extracellular matrix	HDA IBA ISS	20551380 22261194 23658023 25037231 27559042 28327460 28344315 28675934
endoplasmic reticulum lumen	TAS

GO Hierarchy

cellular component

protein-containing complex

collagen trimer

cellular anatomical entity [inference]

membrane [inference]

plasma membrane [inference]

sarcolemma

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle

extracellular exosome

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	12812986
extracellular matrix structural constituent conferring tensile strength	HDA ISS RCA	20551380 25037231 27559042 28327460 28344315 28675934
collagen binding	IPI	18400749

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent [inference]

extracellular matrix structural constituent conferring tensile strength

binding [inference]

protein binding

protein-containing complex binding [inference]

collagen binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Collagen alpha-2(VI) chain

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism

Displaying **all 3** entries
InterPro
Collagen triple helix repeat
von Willebrand factor A-like domain superfamily
von Willebrand factor, type A

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0050663	Bethlem myopathy	Alliance of Genome Resources

Ortholog

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	12834		MGI:88460	MOUSE02386
Caenorhabditis elegans	174336		WB:WBGene00000653
Caenorhabditis elegans	177823		WB:WBGene00000697
Caenorhabditis elegans	188515		WB:WBGene00000714
Bos taurus	282194			BOVIN15527
Rattus norvegicus	361821		RGD:1305585	RATNO22350
Pan troglodytes	474056	9598_0:00530d
Danio rerio	567771		ZFIN:ZDB-GENE-070501-7	DANRE02745
Macaca mulatta	709493			MACMU30586
Xenopus laevis	734275		Xenbase:XB-GENE-6085156

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements