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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
cell adhesion	IEA
response to UV	IEA
response to glucose	IEA
phosphatidylinositol 3-kinase/protein kinase B signal transduction	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
extracellular region	TAS
extracellular region	IDA	18400749
extracellular region	HDA	27068509
collagen trimer	IEA
extracellular space	HDA	20551380

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

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

Functional Category

E: Amino acid transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 2** entries
InterPro
von Willebrand factor A-like domain superfamily
von Willebrand factor, type A

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0050663	Bethlem myopathy	Alliance of Genome Resources
DOID:0060942	Ullrich congenital muscular dystrophy 1B	Alliance of Genome Resources

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	1292	Xenbase:XB-GENE-6085118
Mus musculus	12834	Xenbase:XB-GENE-6085118	MOUSE02386
Bos taurus	282194		BOVIN15527
Rattus norvegicus	361821		RATNO22350
Caenorhabditis elegans	553759	WB:WBGene00000653
Danio rerio	567771		DANRE02745
Macaca mulatta	709493		MACMU30586
Equus caballus	100055332		HORSE24890
Ornithorhynchus anatinus	100083653		ORNAN25261
Taeniopygia guttata	100224039		TAEGU27677

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements