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Guidelines

MIRAGE

collagen type II alpha 1 chain

Summary

Gene Symbol

COL2A1

Organism

Homo sapiens (human)

External Links

NCBI Gene

1280

PubChem

1280

Alliance of Genome Resources

HGNC:2200

Annotation

Keyword

3D-structure
Alternative splicing
Calcium
Cataract
Collagen
Deafness
Direct protein sequencing
Disease variant
Disulfide bond
Dwarfism
Extracellular matrix
Glycoprotein
Hydroxylation
Metal-binding
Proteomics identification
Reference proteome
Repeat
Signal
Stickler syndrome

Proteins

Displaying 1 entry
UniProt	Protein Name
P02458	Alpha-1 type II collagen

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 25 in total

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GO Term	Evidence Code	PMID
skeletal system development	IMP	1429602
cartilage condensation	IEA
tissue homeostasis	IEA
endochondral ossification	IEA
chondrocyte differentiation	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

signal transduction in absence of ligand [inference]

extrinsic apoptotic signaling pathway in absence of ligand

apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization

collagen fibril organization

external encapsulating structure organization [inference]

extracellular matrix organization

collagen fibril organization

supramolecular fiber organization [inference]

collagen fibril organization

cell aggregation [inference]

cartilage condensation

multicellular organismal process [inference]

ossification [inference]

replacement ossification [inference]

endochondral ossification

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus [inference]

visual perception

sensory perception of mechanical stimulus [inference]

sensory perception of sound

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

heart morphogenesis

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis

skeletal system morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis

embryonic morphogenesis [inference]

inner ear morphogenesis

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis

anatomical structure formation involved in morphogenesis [inference]

limb bud formation

anatomical structure development [inference]

tissue development [inference]

epithelium development [inference]

otic vesicle development

tube development [inference]

otic vesicle development

animal organ development [inference]

sensory organ development [inference]

otic vesicle development

embryonic organ development [inference]

notochord development

cartilage development

cartilage development involved in endochondral bone morphogenesis

system development [inference]

inner ear development [inference]

otic vesicle development

roof of mouth development

head development [inference]

anterior head development

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis

response to stimulus [inference]

response to endogenous stimulus [inference]

response to growth factor [inference]

cellular response to growth factor stimulus [inference]

cellular response to BMP stimulus

response to BMP [inference]

cellular response to BMP stimulus

cellular response to endogenous stimulus [inference]

cellular response to growth factor stimulus [inference]

cellular response to BMP stimulus

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

signal transduction in absence of ligand [inference]

extrinsic apoptotic signaling pathway in absence of ligand

apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
extracellular region	HDA	27068509
collagen type II trimer	IDA	8660302
collagen type II trimer	IBA
collagen type XI trimer	NAS	17876790

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer [inference]

fibrillar collagen trimer [inference]

cellular anatomical entity [inference]

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

basement membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

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

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GO Term	Evidence Code	PMID
protein binding	IPI	32296183 32814053
extracellular matrix structural constituent conferring tensile strength	RCA	27559042 28327460 28675934
extracellular matrix structural constituent conferring tensile strength	IC	8660302
extracellular matrix structural constituent conferring tensile strength	IBA
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

signaling receptor binding [inference]

MHC protein binding [inference]

MHC class II protein binding

growth factor binding [inference]

platelet-derived growth factor binding

identical protein binding [inference]

protein homodimerization activity

proteoglycan binding

protein dimerization activity [inference]

protein homodimerization activity

ion binding [inference]

cation binding [inference]

metal ion binding

carbohydrate derivative binding [inference]

proteoglycan 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
I: Lipid transport and metabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
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 entries **1 - 10** of 21 in total

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DO ID	Disease Name	Source
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	Alliance of Genome Resources
DOID:0080045	Kniest dysplasia	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	Alliance of Genome Resources
DOID:0111348	multiple epiphyseal dysplasia with myopia and deafness	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type	Alliance of Genome Resources
DOID:10159	osteonecrosis	Alliance of Genome Resources

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025