Details for: COL11A2
Associated with
Other Information
Genular Protein ID: 2104372708
Symbol: COBA2_HUMAN
Name: Collagen alpha-2(XI) chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7559422
Title: The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.
PubMed ID: 7559422
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
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: 8838804
Title: The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.
PubMed ID: 8838804
PubMed ID: 8325374
Title: Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain.
PubMed ID: 8325374
PubMed ID: 2760050
Title: The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.
PubMed ID: 2760050
PubMed ID: 7721876
Title: Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains.
PubMed ID: 7721876
PubMed ID: 10677296
Title: Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
PubMed ID: 10677296
DOI: 10.1086/302750
PubMed ID: 9101290
Title: Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
PubMed ID: 9101290
DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9
PubMed ID: 22246659
Title: Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
PubMed ID: 22246659
DOI: 10.1002/ajmg.a.34406
PubMed ID: 7859284
Title: Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
PubMed ID: 7859284
PubMed ID: 9585596
Title: Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
PubMed ID: 9585596
DOI: 10.1086/301868
PubMed ID: 9805126
Title: Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
PubMed ID: 9805126
DOI: 10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o
PubMed ID: 9506662
Title: Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.
PubMed ID: 9506662
PubMed ID: 10581026
Title: Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
PubMed ID: 10581026
DOI: 10.1038/70516
PubMed ID: 16033917
Title: Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
PubMed ID: 16033917
PubMed ID: 22938506
Title: Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
PubMed ID: 22938506
PubMed ID: 25633957
Title: Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
PubMed ID: 25633957
Sequence Information:
- Length: 1736
- Mass: 171791
- Checksum: D687B7AAD6A7774C
- Sequence:
MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPLGPPGKD GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG
Genular Protein ID: 3046167125
Symbol: Q4VXY6_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
Sequence Information:
- Length: 1650
- Mass: 162185
- Checksum: 35531E80812CA213
- Sequence:
MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEAAH GPRGLKGEKG EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE QLPVLDASFS DLGAPPRRGG VLLGPVCFMG
Genular Protein ID: 316674255
Symbol: A0A0C4DFS1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
Sequence Information:
- Length: 1736
- Mass: 171775
- Checksum: FD189666C51EBA60
- Sequence:
MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG
Genular Protein ID: 910218105
Symbol: A0A0G2JL78_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
Sequence Information:
- Length: 1629
- Mass: 159879
- Checksum: B5967544D70A0E03
- Sequence:
MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ PHRAQRSPQQ QPSRLHRPQN QEPQSQAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV LLGPVCFMG
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.