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    Col5a2 collagen, type V, alpha 2 [ Mus musculus (house mouse) ]

    Gene ID: 12832, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Col5a2provided by MGI
    Official Full Name
    collagen, type V, alpha 2provided by MGI
    Primary source
    MGI:MGI:88458
    See related
    Ensembl:ENSMUSG00000026042 AllianceGenome:MGI:88458
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1110014L14Rik
    Summary
    This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in limb E14.5 (RPKM 56.0), bladder adult (RPKM 29.0) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Col5a2 in Genome Data Viewer
    Location:
    1 C1.1; 1 23.69 cM
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (45413491..45542442, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (45374331..45503282, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene heat shock protein 1 (chaperonin) pseudogene 12 Neighboring gene STARR-seq mESC enhancer starr_00812 Neighboring gene collagen, type III, alpha 1 Neighboring gene STARR-seq mESC enhancer starr_00813 Neighboring gene chromobox protein homolog 3 pseudogene Neighboring gene apurinic/apyrimidinic endonuclease 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. How aging impacts skin biomechanics: a multiscale study in mice. Lynch B, et al. Sci Rep, 2017 Oct 23. PMID 29061975, Free PMC Article
    2. Collagen dysregulation in the dermis of the Sagg/+ mouse: a loose skin model. Christner PJ, et al. J Invest Dermatol, 2006 Mar. PMID 16424879
    3. Development of a functional skin matrix requires deposition of collagen V heterotrimers. Chanut-Delalande H, et al. Mol Cell Biol, 2004 Jul. PMID 15199158, Free PMC Article
    4. Effect of targeted mutation in collagen V alpha 2 gene on development of cutaneous hyperplasia in tight skin mice. Phelps RG, et al. Mol Med, 1998 May. PMID 9642685, Free PMC Article
    5. Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections. Park AC, et al. Am J Pathol, 2017 Oct. PMID 28734943, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Col5a2 haploinsufficiency markedly increased the incidence and severity of abdominal aortic aneurysms.
      Title: Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.
    2. Mice with null alleles for the Col5a2. Col5a2(-/-) homozygosity is embryonic lethal at approximately 12 days post conception.
      Title: Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
    3. analysis of processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer
      Title: Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SMAD binding IPI
    Inferred from Physical Interaction
    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to amino acid stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in collagen fibril organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in eye morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of endodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of endodermal cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skin development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skin development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skin development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of collagen trimer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of collagen type V trimer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of collagen type V trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of collagen type V trimer ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of collagen type XI trimer NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in collagen-containing extracellular matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    collagen alpha-2(V) chain
    Names
    procollagen, type V, alpha 2

    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.

    mRNA and Protein(s)

    1. NM_007737.2 → NP_031763.2  collagen alpha-2(V) chain preproprotein

      See identical proteins and their annotated locations for NP_031763.2

      Status: REVIEWED

      Source sequence(s)
      AK003709, AK132413, AK139130, AK147328
      Consensus CDS
      CCDS35555.1
      UniProtKB/Swiss-Prot
      Q3TVR2, Q3U962, Q3UHK7, Q3UTT4, Q3V1J6, Q61431, Q7TMS0, Q80VS8
      Related
      ENSMUSP00000083620.5, ENSMUST00000086430.5
      Conserved Domains (3) summary
      pfam01391
      Location:493 → 551
      Collagen; Collagen triple helix repeat (20 copies)
      smart00214
      Location:40 → 95
      VWC; von Willebrand factor (vWF) type C domain
      pfam01410
      Location:1265 → 1496
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      45413491..45542442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172972.1: Suppressed sequence

      Description
      NM_172972.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3U962.1 GenPept UniProtKB/Swiss-Prot:Q3U962

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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