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

Gene ID: 1278, updated on 18-Jun-2022

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
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Genomic context

See COL1A2 in Genome Data Viewer
Location:
7q21.3
Exon count:
52
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (94394895..94431227)
110 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_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267858 Neighboring gene uncharacterized LOC107986821 Neighboring gene VISTA enhancer hs1626 Neighboring gene COL1A2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1328, pseudogene Neighboring gene uncharacterized LOC105375404 Neighboring gene CAS1 domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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 Compare labs
Osteogenesis imperfecta type III Compare labs
Osteogenesis imperfecta with normal sclerae, dominant form Compare labs
Osteogenesis imperfecta, recessive perinatal lethal Compare labs
Osteoporosis
MedGen: C0029456 OMIM: 166710 GeneReviews: Not available
not available

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

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

General protein information

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)

NEW Try the new Transcript table

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.

Genomic

  1. NG_007405.1 RefSeqGene

    Range
    5001..41672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_2

mRNA and Protein(s)

  1. NM_000089.4NP_000080.2  collagen alpha-2(I) chain precursor

    See identical proteins and their annotated locations for NP_000080.2

    Status: REVIEWED

    Source sequence(s)
    AA457209, BC042586, BC054498, CF125721, Z74616
    Consensus CDS
    CCDS34682.1
    UniProtKB/Swiss-Prot
    P08123
    UniProtKB/TrEMBL
    A0A0S2Z3H5
    Related
    ENSP00000297268.6, ENST00000297268.11
    Conserved Domains (2) summary
    pfam01391
    Location:115174
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01410
    Location:11341365
    COLFI; Fibrillar collagen C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    94394895..94431227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    95630848..95667187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)