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

    Gene ID: 1278, updated on 9-Jan-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COL1A2 in Genome Data Viewer
    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_000007.14Genomic 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 ATAC-STARR-seq lymphoblastoid silent region 18377 Neighboring gene RNA, U6 small nuclear 1328, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:94138406-94139394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:94139395-94140381 Neighboring gene uncharacterized LOC105375404 Neighboring gene CAS1 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26288

    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
    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
    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

    Gene Ontology Provided by GOA

    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 

    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
      P02464, P08123, Q13897, Q13997, Q13998, Q14038, Q14057, Q15177, Q15947, Q16480, Q16511, Q7Z5S6, Q9UEB6, Q9UEF9, Q9UM83, Q9UMI1, Q9UML5, Q9UMM6, Q9UPH0
      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: GCF_000001405.40-RS_2023_10

    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)