Details for: COL6A2
Associated with
Other Information
Genular Protein ID: 1058156979
Symbol: CO6A2_HUMAN
Name: Collagen alpha-2(VI) chain
UniProtKB Accession Codes:
Database IDs:
Citations:
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: 1556127
Title: Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon.
PubMed ID: 1556127
PubMed ID: 2551668
Title: Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus.
PubMed ID: 2551668
PubMed ID: 8168508
Title: Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI.
PubMed ID: 8168508
PubMed ID: 3665927
Title: Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones.
PubMed ID: 3665927
PubMed ID: 1765372
Title: The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar.
PubMed ID: 1765372
PubMed ID: 6852033
Title: Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen).
PubMed ID: 6852033
PubMed ID: 3198591
Title: Amino acid sequence of the triple-helical domain of human collagen type VI.
PubMed ID: 3198591
PubMed ID: 3348212
Title: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.
PubMed ID: 3348212
PubMed ID: 1690728
Title: Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini.
PubMed ID: 1690728
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 8305732
Title: Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface.
PubMed ID: 8305732
PubMed ID: 9099729
Title: The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein.
PubMed ID: 9099729
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 22905912
Title: Resveratrol-induced changes of the human adipocyte secretion profile.
PubMed ID: 22905912
DOI: 10.1021/pr300539b
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 8782832
Title: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
PubMed ID: 8782832
DOI: 10.1038/ng0996-113
PubMed ID: 11865138
Title: Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
PubMed ID: 11865138
DOI: 10.1212/wnl.58.4.593
PubMed ID: 15563506
Title: Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
PubMed ID: 15563506
DOI: 10.1093/hmg/ddi025
PubMed ID: 15689448
Title: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
PubMed ID: 15689448
PubMed ID: 17886299
Title: Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
PubMed ID: 17886299
DOI: 10.1002/ana.21213
PubMed ID: 18852439
Title: Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
PubMed ID: 18852439
PubMed ID: 23040494
Title: An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
PubMed ID: 23040494
PubMed ID: 27535533
Title: Analysis of protein-coding genetic variation in 60,706 humans.
PubMed ID: 27535533
DOI: 10.1038/nature19057
Sequence Information:
- Length: 1019
- Mass: 108579
- Checksum: 6C513ADE46C1D111
- Sequence:
MLQGTCSVLL LWGILGAIQA QQQEVISPDT TERNNNCPEK TDCPIHVYFV LDTSESVTMQ SPTDILLFHM KQFVPQFISQ LQNEFYLDQV ALSWRYGGLH FSDQVEVFSP PGSDRASFIK NLQGISSFRR GTFTDCALAN MTEQIRQDRS KGTVHFAVVI TDGHVTGSPC GGIKLQAERA REEGIRLFAV APNQNLKEQG LRDIASTPHE LYRNDYATML PDSTEIDQDT INRIIKVMKH EAYGECYKVS CLEIPGPSGP KGYRGQKGAK GNMGEPGEPG QKGRQGDPGI EGPIGFPGPK GVPGFKGEKG EFGADGRKGA PGLAGKNGTD GQKGKLGRIG PPGCKGDPGN RGPDGYPGEA GSPGERGDQG GKGDPGRPGR RGPPGEIGAK GSKGYQGNSG APGSPGVKGA KGGPGPRGPK GEPGRRGDPG TKGSPGSDGP KGEKGDPGPE GPRGLAGEVG NKGAKGDRGL PGPRGPQGAL GEPGKQGSRG DPGDAGPRGD SGQPGPKGDP GRPGFSYPGP RGAPGEKGEP GPRGPEGGRG DFGLKGEPGR KGEKGEPADP GPPGEPGPRG PRGVPGPEGE PGPPGDPGLT ECDVMTYVRE TCGCCDCEKR CGALDVVFVI DSSESIGYTN FTLEKNFVIN VVNRLGAIAK DPKSETGTRV GVVQYSHEGT FEAIQLDDER IDSLSSFKEA VKNLEWIAGG TWTPSALKFA YDRLIKESRR QKTRVFAVVI TDGRHDPRDD DLNLRALCDR DVTVTAIGIG DMFHEKHESE NLYSIACDKP QQVRNMTLFS DLVAEKFIDD MEDVLCPDPQ IVCPDLPCQT ELSVAQCTQR PVDIVFLLDG SERLGEQNFH KARRFVEQVA RRLTLARRDD DPLNARVALL QFGGPGEQQV AFPLSHNLTA IHEALETTQY LNSFSHVGAG VVHAINAIVR SPRGGARRHA ELSFVFLTDG VTGNDSLHES AHSMRKQNVV PTVLALGSDV DMDVLTTLSL GDRAAVFHEK DYDSLAQPGF FDRFIRWIC
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.