Species

Homo sapiens

Symbol

COL1A2

Name

collagen type I alpha 2 chain

Synonyms

alpha 2 type I procollagen
alpha 2(I) procollagen

Biotype

protein coding gene

Automated Description

Enables several functions, including identical protein binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including collagen fibril organization; skin morphogenesis; and transforming growth factor beta receptor signaling pathway. Located in extracellular space. Part of collagen type I trimer. Implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis.

RGD Description

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR24023

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

Phenotype Term	Annotation details	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Sequence Feature Viewer

Genome location

Chr7:94394895...94431227 + (36.33 kb)

Assembly version

GRCh38

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

Loading...

Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

COL1A2 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Genetic Interactions

COL1A2 role	COL1A2 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page