1. Gene
  2. Col11a2 - collagen, type XI, alpha 2 Gene

Col11a2 - collagen, type XI, alpha 2 Gene

Mus musculus
Gene ID: 12815 | Gene type: protein coding

About Col11a2

Summary

This gene encodes the alpha-2 subunit of type XI Collagen, one of the low abundance fibrillar collagens found in cartilage. The encoded protein, in association with other Collagen subunits, forms a heterotrimeric type XI procollagen that may undergo proteolytic processing similar to the alpha-1 subunit. Mice lacking the encoded protein exhibit a mild phenotype similar to nonocular Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED) as well as a nonsyndromic form of deafness called DFNA13. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Col11a2 Products(3)

mRNA Protein Name
NM_001317722.2 NP_001304651.1 collagen alpha-2(XI) chain isoform 1 precursor
NM_001401301.1 NP_001388230.1 collagen alpha-2(XI) chain isoform 3 precursor
NM_009926.3 NP_034056.1 collagen alpha-2(XI) chain isoform 2 precursor
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within chondrocyte differentiation IMP
IMP: Inferred from mutant phenotype
11668593 MGI
acts upstream of or within collagen fibril organization IMP
IMP: Inferred from mutant phenotype
10581026 MGI
acts upstream of or within sensory perception of sound IMP
IMP: Inferred from mutant phenotype
10581026 MGI
acts upstream of or within skeletal system morphogenesis IMP
IMP: Inferred from mutant phenotype
11668593 MGI
acts upstream of or within tissue homeostasis IMP
IMP: Inferred from mutant phenotype
11237662 MGI
Cellular Component GO Annotation Evidence Reference Source
part of collagen trimer IDA
IDA: Inferred from direct assay
17683922 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

collagen alpha-2(XI) chain

procollagen, type XI, alpha 2

Orthologs Information

Species Symbol Source ID
Homo sapiens Col11a2 NCBI NCBI:1302