| 2373 | Col11a2 | collagen type XI alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); metal ion binding (inferred); INVOLVED IN osteoblast differentiation; cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; cell-extracellular matri x signaling pathway; Entamoebiasis pathway; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); autosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen trimer (ortholog); collagen type II trimer (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; acetamide | 20 | 4788829 | 4818492 | Rat | 163 | symbol , PhenoGen , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 10371 | Col11a2 | collagen, type XI, alpha 2 | 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 subu nit. 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] | 17 | 34257462 | 34285659 | Mouse | 193 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1350403 | COL11A2 | collagen type XI alpha 2 chain | 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] | 6 | 33162694 | 33193519 | Human | 518 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 8990441 | Col11a2 | collagen type XI alpha 2 chain | INVOLVED IN cartilage development (ortholog); chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); a utosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen trimer (ortholog); collagen type II trimer (ortholog) | NW_004955437 | 1739426 | 1767087 | Chinchilla | 60 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11745321 | COL11A2 | collagen type XI alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); metal ion binding (inferred); INVOLVED IN chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); osteo blast differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); autosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen type II trimer (ortholog) | 6 | 32734950 | 32765837 | Bonobo | 69 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12245456 | COL11A2 | collagen type XI alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); metal ion binding (inferred); INVOLVED IN chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); osteoblast differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCI ATED WITH Dwarfism; autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); FOUND IN collagen type II trimer (ortholog) | 12 | 2626829 | 2656680 | Dog | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12721622 | Col11a2 | collagen type XI alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); metal ion binding (inferred); INVOLVED IN chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); osteo blast differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); autosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen type II trimer (ortholog) | NW_004936476 | 25663563 | 25692315 | Squirrel | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 405860863 | col11a2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 18573397 | COL11A2 | collagen type XI alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); metal ion binding (inferred); INVOLVED IN chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); osteo blast differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); autosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen type II trimer (ortholog) | | | | Green Monkey | 68 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 405857420 | col11a2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 18900857 | Col11a2 | collagen type XI alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); INVOLVED IN cartilage development (ortholog); chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); P ARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); autosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen trimer (ortholog); collagen type II trimer (ortholog) | | | | Naked Mole-Rat | 66 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625930747 | Col11a2 | collagen type XI alpha 2 chain | INVOLVED IN cartilage development (ortholog); chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); a utosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen trimer (ortholog); collagen type II trimer (ortholog) | | | | Black Rat | 56 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14013769 | COL11A2 | collagen type XI alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); metal ion binding (inferred); INVOLVED IN chondrocyte differentiation (ortholog); collagen fibril organization (ortholog); osteoblast differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCI ATED WITH autosomal dominant nonsyndromic deafness 13 (ortholog); autosomal dominant nonsyndromic deafness 33 (ortholog); autosomal recessive nonsyndromic deafness 53 (ortholog); FOUND IN collagen type II trimer (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 68 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 405864761 | col11a2.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 405863924 | col11a2.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 405857421 | col11a2.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 405860862 | col11a2.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 405861290 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 405861468 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 405856587 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 405857123 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 405864738 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 405857024 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 405862319 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 405858183 | col11a2l | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 1343549 | COL11A2P1 | collagen type XI alpha 2 pseudogene 1 | | 6 | 33103693 | 33107144 | Human | | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 155231664 | col11a2p1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
