Property Summary

NCBI Gene PubMed Count 61
Grant Count 19
R01 Count 13
Funding $1,801,547.23
PubMed Score 68.82
PubTator Score 406.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 2.872 0.001
intraductal papillary-mucinous adenoma (... 1.200 0.006
lung cancer 1.300 0.000
pituitary cancer -1.200 0.008

 GWAS Trait (1)

Gene RIF (35)

PMID Text
25780254 A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome.
25633957 Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein.
25240749 Expanded spectrum of mutations in the COL11A1 and COL11A2 genes in Stickler syndrome.
23624467 results show that this gene interacts collagen x1 encoded genes to modulate the risk for AT
22796475 Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees.
22246659 These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2
22112025 The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified.
21293383 four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2.
21204229 A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
20672350 implication of IRF6, COL2A1, and WNT3 in occurrence of nonsyndromic cleft palate (NSCP); likely variation in cartilage collagen II and XI genes, IRF6, and Wnt and FGF signal pathway genes contributes susceptibility to NSCP in Northeast Europe populations
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AA Sequence

MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSA      1 - 70
PTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFR     71 - 140
GLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAI    141 - 210
VPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYY    211 - 280
DVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGY    281 - 350
GDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG    351 - 420
PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPG    421 - 490
PMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGF    491 - 560
DGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMD    561 - 630
GPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPG    631 - 700
TKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGP    701 - 770
EGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER    771 - 840
GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRG    841 - 910
EVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGP    911 - 980
AGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVP    981 - 1050
GEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPG   1051 - 1120
AAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGP   1121 - 1190
NGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD   1191 - 1260
GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEG   1261 - 1330
RQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGL   1331 - 1400
RGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPK   1401 - 1470
GAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGL   1471 - 1540
EEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGE   1541 - 1610
TCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP   1611 - 1680
YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG                 1681 - 1736
//

Text Mined References (60)

PMID Year Title
25780254 2015 Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
25633957 2015 Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
24097066 2013 A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
23740775 2013 Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
23624467 2013 Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
22808956 2012 Genetically distinct subsets within ANCA-associated vasculitis.
22796475 2012 Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
22112025 2011 Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin.
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