COL1A2 collagen type I alpha 2 chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: COL1A2provided by HGNC
Official Full Name: collagen type I alpha 2 chainprovided by HGNC
Primary source: HGNC:HGNC:2198
See related: Ensembl:ENSG00000164692 MIM:120160; AllianceGenome:HGNC:2198
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OI4; EDSCV; EDSARTH2
Summary: 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]
Expression: Broad expression in gall bladder (RPKM 891.0), urinary bladder (RPKM 521.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 52

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (94394895..94431227)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (95630848..95667187)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (94024207..94060539)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
Title: Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
The association between Dental Fluorosis and COL1A2 gene polymorphism among a Tunisian Population.
Title: The association between Dental Fluorosis and COL1A2 gene polymorphism among a Tunisian Population.
Circular RNA COL1A2 Mediates High Glucose-Induced Oxidative Stress and Pyroptosis by Regulating MiR-424-5p/SGK1 in Diabetic Nephropathy.
Title: Circular RNA COL1A2 Mediates High Glucose-Induced Oxidative Stress and Pyroptosis by Regulating MiR-424-5p/SGK1 in Diabetic Nephropathy.
[Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].
Title: [Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].
An integrated bioinformatic investigation of focal adhesion-related genes in glioma followed by preliminary validation of COL1A2 in tumorigenesis.
Title: An integrated bioinformatic investigation of focal adhesion-related genes in glioma followed by preliminary validation of COL1A2 in tumorigenesis.
COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Title: COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Title: Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia.
Title: COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia.
Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion).
Title: Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion).
COL1A2 inhibition suppresses glioblastoma cell proliferation and invasion.
Title: COL1A2 inhibition suppresses glioblastoma cell proliferation and invasion.

Submit: New GeneRIF Correction See all GeneRIFs (218)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 MedGen: C5436847 OMIM: 619120 GeneReviews: Not available	Compare labs
Ehlers-danlos syndrome, arthrochalasia type, 2 MedGen: CN293783 OMIM: 617821 GeneReviews: Not available	Compare labs
Ehlers-Danlos syndrome, cardiac valvular type MedGen: C4303789 OMIM: 225320 GeneReviews: Not available	Compare labs
Osteogenesis imperfecta MedGen: C0029434 GeneReviews: COL1A1/2 Osteogenesis Imperfecta	Compare labs
Osteogenesis imperfecta type III MedGen: C0268362 OMIM: 259420 GeneReviews: COL1A1/2 Osteogenesis Imperfecta	Compare labs
Osteogenesis imperfecta with normal sclerae, dominant form MedGen: C0268363 OMIM: 166220 GeneReviews: COL1A1/2 Osteogenesis Imperfecta	Compare labs
Osteogenesis imperfecta, perinatal lethal MedGen: C0268358 OMIM: 166210 GeneReviews: COL1A1/2 Osteogenesis Imperfecta	Compare labs
Osteoporosis MedGen: C0029456 OMIM: 166710 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-12) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-10-12) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Framingham Heart Study genome-wide association: results for pulmonary function measures. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of intelligence: additive effects of novel brain expressed genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Linkage and association of successful aging to the 6q25 region in large Amish kindreds. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat, through its basic domain (amino acids 46-60), inhibits the adhesion of collagen I to the neuroblastoma cell line GI-CA-N, suggesting a role for Tat in the neurologic dysfunction and destruction of the CNS observed in infants infected with HIV-1	PubMed
	tat	HIV-1 Tat upregulates the steady-state RNA levels for fibronectin and types I and III collagen in glioblastoma cells and salivary gland cell lines	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

COL1A2mfd (e-PCR), detects polymorphism
- UniSTS:164864

D11S2921 (e-PCR)
- UniSTS:152074

D7S2763 (e-PCR)
- UniSTS:28939

SHGC-56152 (e-PCR)
- UniSTS:6679

G20262 (e-PCR)
- UniSTS:27941

A005A20 (e-PCR)
- UniSTS:27942

G59702 (e-PCR)
- UniSTS:137001

COL1A2 (e-PCR)
- UniSTS:15668

COL1A2 (e-PCR)
- UniSTS:479797

COL1A2 (e-PCR)
- UniSTS:279350

GDB:438113 (e-PCR)
- UniSTS:157266

D7S2150E (e-PCR)
- UniSTS:151144

GDB:439267 (e-PCR)
- UniSTS:157291

SHGC-56147 (e-PCR)
- UniSTS:17520

COL1A2_1224 (e-PCR)
- UniSTS:277114

COL1A2_v348 (e-PCR)
- UniSTS:277114

WI-11486 (e-PCR)
- UniSTS:70022

GDB:365711 (e-PCR)
- UniSTS:156811

GDB:366514 (e-PCR)
- UniSTS:156812

G15893 (e-PCR)
- UniSTS:65936

G44337 (e-PCR)
- UniSTS:95124

G44345 (e-PCR)
- UniSTS:95132

GDB:196334 (e-PCR)
- UniSTS:155828

GDB:180348 (e-PCR)
- UniSTS:155080

GDB:180350 (e-PCR)
- UniSTS:155082

GDB:1318591 (e-PCR)
- UniSTS:37601

GDB:177260 (e-PCR)
- UniSTS:154850

G44756 (e-PCR)
- UniSTS:95215

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SMAD binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	HDA more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor binding	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	NAS Non-traceable Author Statement more info	PubMed
involved_in collagen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix assembly	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in odontogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in protein heterotrimerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of collagen type I trimer	IBA Inferred from Biological aspect of Ancestor more info
part_of collagen type I trimer	IDA Inferred from Direct Assay more info	PubMed
part_of collagen type I trimer	IMP Inferred from Mutant Phenotype more info	PubMed
part_of collagen type I trimer	IPI Inferred from Physical Interaction more info	PubMed
part_of collagen type I trimer	TAS Traceable Author Statement more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: collagen alpha-2(I) chain

Names: alpha 2 type I procollagen; alpha 2(I) procollagen; alpha 2(I)-collagen; alpha-2 type I collagen; collagen I, alpha-2 polypeptide; collagen of skin, tendon and bone, alpha-2 chain; collagen, type I, alpha 2; epididymis secretory sperm binding protein; type I procollagen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.