Details for: COL5A2

Gene ID: 1290

Symbol: COL5A2

Ensembl ID: ENSG00000204262

Description: collagen type V alpha 2 chain

Associated with

Other Information

Genular Protein ID: 2887960575

Symbol: CO5A2_HUMAN

Name: Collagen alpha-2(V) chain

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 2914927

Title: Amino-terminal propeptide of human pro-alpha 2(V) collagen conforms to the structural criteria of a fibrillar procollagen molecule.

PubMed ID: 2914927

DOI: 10.1016/s0021-9258(19)81674-5

PubMed ID: 11566270

Title: Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes.

PubMed ID: 11566270

DOI: 10.1016/s0945-053x(01)00145-7

PubMed ID: 1820205

Title: Homology between alpha 2(V) and alpha 1(III) collagen promoters and evidence for negatively acting elements in the alpha 2(V) first intron and 5' flanking sequences.

PubMed ID: 1820205

PubMed ID: 1571108

Title: Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing.

PubMed ID: 1571108

DOI: 10.1515/bchm3.1992.373.1.69

PubMed ID: 8181482

Title: Diversity in the processing events at the N-terminus of type-V collagen.

PubMed ID: 8181482

DOI: 10.1111/j.1432-1033.1994.tb18815.x

PubMed ID: 3029669

Title: The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens.

PubMed ID: 3029669

DOI: 10.1093/nar/15.1.181

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2985598

Title: Partial covalent structure of the human alpha 2 type V collagen chain.

PubMed ID: 2985598

DOI: 10.1016/s0021-9258(18)89055-x

PubMed ID: 3858826

Title: Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.

PubMed ID: 3858826

DOI: 10.1073/pnas.82.10.3385

PubMed ID: 2411731

Title: Complete primary structure of the human alpha 2 type V procollagen COOH-terminal propeptide.

PubMed ID: 2411731

DOI: 10.1016/s0021-9258(17)39168-8

PubMed ID: 3224983

Title: Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.

PubMed ID: 3224983

DOI: 10.1016/0888-7543(88)90089-4

PubMed ID: 9425231

Title: Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.

PubMed ID: 9425231

DOI: 10.1093/hmg/7.2.249

PubMed ID: 21757687

Title: A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.

PubMed ID: 21757687

DOI: 10.1074/jbc.m111.267906

PubMed ID: 9783710

Title: A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

PubMed ID: 9783710

DOI: 10.1136/jmg.35.10.846

PubMed ID: 11940702

Title: Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections.

PubMed ID: 11940702

DOI: 10.1212/wnl.58.7.1103

PubMed ID: 27656288

Title: A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

PubMed ID: 27656288

DOI: 10.1038/hgv.2016.30

Sequence Information:

  • Length: 1499
  • Mass: 144910
  • Checksum: E8C92BF5E749EC97
  • Sequence:
  • MMANWAEARP LLILIVLLGQ FVSIKAQEED EDEGYGEEIA CTQNGQMYLN RDIWKPAPCQ 
    ICVCDNGAIL CDKIECQDVL DCADPVTPPG ECCPVCSQTP GGGNTNFGRG RKGQKGEPGL 
    VPVVTGIRGR PGPAGPPGSQ GPRGERGPKG RPGPRGPQGI DGEPGVPGQP GAPGPPGHPS 
    HPGPDGLSRP FSAQMAGLDE KSGLGSQVGL MPGSVGPVGP RGPQGLQGQQ GGAGPTGPPG 
    EPGDPGPMGP IGSRGPEGPP GKPGEDGEPG RNGNPGEVGF AGSPGARGFP GAPGLPGLKG 
    HRGHKGLEGP KGEVGAPGSK GEAGPTGPMG AMGPLGPRGM PGERGRLGPQ GAPGQRGAHG 
    MPGKPGPMGP LGIPGSSGFP GNPGMKGEAG PTGARGPEGP QGQRGETGPP GPVGSPGLPG 
    AIGTDGTPGA KGPTGSPGTS GPPGSAGPPG SPGPQGSTGP QGIRGQPGDP GVPGFKGEAG 
    PKGEPGPHGI QGPIGPPGEE GKRGPRGDPG TVGPPGPVGE RGAPGNRGFP GSDGLPGPKG 
    AQGERGPVGS SGPKGSQGDP GRPGEPGLPG ARGLTGNPGV QGPEGKLGPL GAPGEDGRPG 
    PPGSIGIRGQ PGSMGLPGPK GSSGDPGKPG EAGNAGVPGQ RGAPGKDGEV GPSGPVGPPG 
    LAGERGEQGP PGPTGFQGLP GPPGPPGEGG KPGDQGVPGD PGAVGPLGPR GERGNPGERG 
    EPGITGLPGE KGMAGGHGPD GPKGSPGPSG TPGDTGPPGL QGMPGERGIA GTPGPKGDRG 
    GIGEKGAEGT AGNDGARGLP GPLGPPGPAG PTGEKGEPGP RGLVGPPGSR GNPGSRGENG 
    PTGAVGFAGP QGPDGQPGVK GEPGEPGQKG DAGSPGPQGL AGSPGPHGPN GVPGLKGGRG 
    TQGPPGATGF PGSAGRVGPP GPAGAPGPAG PLGEPGKEGP PGLRGDPGSH GRVGDRGPAG 
    PPGGPGDKGD PGEDGQPGPD GPPGPAGTTG QRGIVGMPGQ RGERGMPGLP GPAGTPGKVG 
    PTGATGDKGP PGPVGPPGSN GPVGEPGPEG PAGNDGTPGR DGAVGERGDR GDPGPAGLPG 
    SQGAPGTPGP VGAPGDAGQR GDPGSRGPIG PPGRAGKRGL PGPQGPRGDK GDHGDRGDRG 
    QKGHRGFTGL QGLPGPPGPN GEQGSAGIPG PFGPRGPPGP VGPSGKEGNP GPLGPIGPPG 
    VRGSVGEAGP EGPPGEPGPP GPPGPPGHLT AALGDIMGHY DESMPDPLPE FTEDQAAPDD 
    KNKTDPGVHA TLKSLSSQIE TMRSPDGSKK HPARTCDDLK LCHSAKQSGE YWIDPNQGSV 
    EDAIKVYCNM ETGETCISAN PSSVPRKTWW ASKSPDNKPV WYGLDMNRGS QFAYGDHQSP 
    NTAITQMTFL RLLSKEASQN ITYICKNSVG YMDDQAKNLK KAVVLKGAND LDIKAEGNIR 
    FRYIVLQDTC SKRNGNVGKT VFEYRTQNVA RLPIIDLAPV DVGGTDQEFG VEIGPVCFV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.