Human Gene COL11A2 (uc011hgi.1) Description and Page Index
  Description: Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 3, mRNA.
RefSeq Summary (NM_080679): This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:4,587,785-4,602,986 Size: 15,202 Total Exon Count: 9 Strand: -
Coding Region
   Position: chr6_mann_hap4:4,588,771-4,602,906 Size: 14,136 Coding Exon Count: 9 

Page IndexSequence and LinksGenetic AssociationsCTDMicroarrayRNA Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: COL11A2
CDC HuGE Published Literature: COL11A2
Positive Disease Associations: Cholesterol, LDL , Creatinine , ossification of the posterior longitudinal ligament of the spine , osteochondrodysplasias
Related Studies:
  1. Cholesterol, LDL
    Cristen J Willer et al. Nature genetics 2008, Newly identified loci that influence lipid concentrations and risk of coronary artery disease., Nature genetics. [PubMed 18193043]
  2. Creatinine
    , , . [PubMed 0]
  3. Creatinine
    , , . [PubMed 0]
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+  Comparative Toxicogenomics Database (CTD)
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-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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+  mRNA Secondary Structure of 3' and 5' UTRs
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AK130938 - Homo sapiens cDNA FLJ27428 fis, clone WMD05691, highly similar to Collagen alpha 2(XI) chain precursor.
J04974 - Human alpha-2 type XI collagen mRNA (COL11A2).
L18987 - Human alpha-2 type XI collagen mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction

+  Other Names for This Gene
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+  GeneReviews for This Gene
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+  Gene Model Information
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+  Methods, Credits, and Use Restrictions
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