Basic Information

Symbol
COL11A2
RNA class
mRNA
Alias
Collagen Type XI Alpha 2 Chain HKE5 Collagen, Type XI, Alpha 2 Collagen Alpha-2(XI) Chain DFNA13 DFNB53 Pro-A2 Chain Of Collagen Type XI OSMEDA OSMEDB FBCG2 PARP STL3
Location (GRCh38)
6:33162681-33192766
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Drug abuse diagnoses Individual identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_080680.3
Sequence length
6422.0 nt
GC content
0.6330

Transcripts

ID Sequence Length GC content
NM_001163771.2 NCBI
ACACAGAAGCGGCAGCCACCGAGGAGGGAGCAGUGCCGGGAGCCCCGAC… 1207 nt 0.6056
NM_001424108.1 NCBI
ACACAGAAGCGGCAGCCACCGAGGAGGGAGCAGUGCCGGGAGCCCCGAC… 6242 nt 0.6336
NM_001424109.1 NCBI
ACACUUCUAUGAAAGUUUUGCUGGAACUCUCUUUGGGAUUUUUCCAAUC… 6213 nt 0.6268
NM_001424110.1 NCBI
ACACUUCUAUGAAAGUUUUGCUGGAACUCUCUUUGGGAUUUUUCCAAUC… 6033 nt 0.6272
NM_001424111.1 NCBI
AGAGUCGACUGCUCGCUCAUCUUACCACUGCUCCCCCUCUACCUCGGCU… 6046 nt 0.6293
NM_001424112.1 NCBI
GCCAUUUUGACCCCUGCCUGCUUCCUGCUCUUGCCUUCUUGGCUAUCGC… 4405 nt 0.6291
NM_080679.3 NCBI
ACACAGAAGCGGCAGCCACCGAGGAGGGAGCAGUGCCGGGAGCCCCGAC… 6101 nt 0.6356
NM_080680.3 NCBI
ACACAGAAGCGGCAGCCACCGAGGAGGGAGCAGUGCCGGGAGCCCCGAC… 6422 nt 0.6330
NM_080681.3 NCBI
ACACAGAAGCGGCAGCCACCGAGGAGGGAGCAGUGCCGGGAGCCCCGAC… 6164 nt 0.6353
Summary

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]

Forensic Context

A study in mice selectively bred for high or low methamphetamine consumption identified the COL11A2 as an extracellular matrix gene overexpressed in the ventral midbrain of the low-drinking line [Hitzemann et al. DOI:10.3390/brainsci9070155]. A study in humans demonstrated that total poly-ADP ribose polymerase (PARP) activity trended to be higher in the subcutaneous adipose tissue of heavier co-twins within body mass index-discordant monozygotic twin pairs, indicating an association between acquired obesity and increased activity of this major cellular NAD+ consumer [Jukarainen et al. DOI:10.1210/jc.2015-3095].