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
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
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.
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