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

Gene ID: 1278, updated on 16-Apr-2014
Official Symbol
COL1A2provided by HGNC
Official Full Name
collagen, type I, alpha 2provided by HGNC
Primary source
HGNC:2198
See related
Ensembl:ENSG00000164692; HPRD:00363; MIM:120160; Vega:OTTHUMG00000148675
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
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]
Location :
7q22.1
Sequence :
Chromosome: 7; NC_000007.14 (94394561..94431232)
See COL1A2 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723946 Neighboring gene uncharacterized LOC101927525 Neighboring gene CAS1 domain containing 1 Neighboring gene sarcoglycan, epsilon

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
MedGen: C1857034 OMIM: 225320 GeneReviews: Not available
Compare labs
Ehlers-Danlos syndrome, procollagen proteinase deficient
MedGen: C0268345 OMIM: 130060 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: C0029458 OMIM: 166710 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-10-12)

ISCA Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-10-12)

ISCA Genome Curation Page

NHGRI GWAS Catalog

Description
Framingham Heart Study genome-wide association: results for pulmonary function measures.
NHGRI GWA Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
NHGRI GWA Catalog
Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat, p14 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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SMAD binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent NAS
Non-traceable Author Statement
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
platelet-derived growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amino acid stimulus IEA
Inferred from Electronic Annotation
more info
 
collagen catabolic process TAS
Traceable Author Statement
more info
 
collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
odontogenesis NAS
Non-traceable Author Statement
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
protein heterotrimerization IEA
Inferred from Electronic Annotation
more info
 
regulation of blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
skin morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
collagen type I IDA
Inferred from Direct Assay
more info
PubMed 
collagen type I IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen type I TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
collagen alpha-2(I) chain
Names
collagen alpha-2(I) chain
type 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

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_000089.3NP_000080.2  collagen alpha-2(I) chain precursor

    See proteins identical to NP_000080.2

    Status: REVIEWED

    Source sequence(s)
    AA457209, BC042586, BC054498, CF125721, J03464, Z74616
    Consensus CDS
    CCDS34682.1
    UniProtKB/Swiss-Prot
    P08123
    Related
    ENSP00000297268, OTTHUMP00000192906, ENST00000297268, OTTHUMT00000309045
    Conserved Domains (2) summary
    pfam01391
    Location:115174
    Blast Score: 122
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:11321366
    Blast Score: 1066
    COLFI; Fibrillar collagens C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38 Primary Assembly

    Range
    94394561..94431232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 Alternate HuRef

    Range
    88631579..88668235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    93953972..93990650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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