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collagen type XI alpha 2 chain

Summary

Gene Symbol

COL11A2

Organism

Homo sapiens (human)

External Links

NCBI Gene

1302

PubChem

1302

Alliance of Genome Resources

HGNC:2187

JoGo

COL11A2

TogoVar

COL11A2

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 6** entries
UniProt	Protein Name
A0A0C4DFS1
Q4VXY6
A0A0G2JL35
A0A140TA43
P13942
A0A0G2JL78

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
skeletal system development	NAS	7859284 8838804
skeletal system development	IMP	10677296
sensory perception of sound	IMP	10581026 10677296 16033917 9188673
sensory perception of sound	IBA
collagen fibril organization	IDA	9188673

GO Hierarchy

biological process

cellular process [inference]

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization [inference]

collagen fibril organization

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

collagen fibril organization

supramolecular fiber organization [inference]

collagen fibril organization

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

cartilage development

system development [inference]

skeletal system development

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GO Term	Evidence Code	PMID
extracellular region	TAS
collagen trimer	IBA
collagen type XI trimer	NAS	17876790 7859284 8838804
extracellular space	IBA
endoplasmic reticulum lumen	TAS

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer

fibrillar collagen trimer [inference]

collagen type XI trimer

cellular anatomical entity [inference]

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

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GO Term	Evidence Code	PMID
protein binding	IPI	17703188
heparin binding
extracellular matrix structural constituent conferring tensile strength	RCA	28675934
extracellular matrix structural constituent conferring tensile strength	NAS	7859284 8838804
extracellular matrix structural constituent conferring tensile strength	IBA

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent [inference]

extracellular matrix structural constituent conferring tensile strength

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

carbohydrate derivative binding [inference]

glycosaminoglycan binding [inference]

heparin binding

sulfur compound binding [inference]

heparin binding

molecular adaptor activity [inference]

protein-macromolecule adaptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

collagen alpha

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
extracellular matrix organization
extracellular matrix structural constituent conferring tensile strength
extracellular matrix structural constituent

Displaying **all 2** entries
InterPro
Collagen triple helix repeat
Fibrillar collagen, C-terminal

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive	Alliance of Genome Resources
DOID:0080673	fibrochondrogenesis 2	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	Alliance of Genome Resources
DOID:0110509	autosomal recessive nonsyndromic deafness 53	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia	Alliance of Genome Resources
DOID:674	cleft palate	Alliance of Genome Resources