Homo sapiens Protein: COL11A2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-82070.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | COL11A2 | ||||||||||||||||||
Protein Name | collagen, type XI, alpha 2 | ||||||||||||||||||
Synonyms | DFNA13; DFNB53; FBCG2; HKE5; PARP; STL3; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000339915 | ||||||||||||||||||
InnateDB Gene | IDBG-82068 (COL11A2) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. | ||||||||||||||||||
Subcellular Localization | Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}. | ||||||||||||||||||
Disease Associations | Stickler syndrome 3 (STL3) [MIM:184840]: An autosomal dominant non-ocular form of Stickler syndrome. Classical Stickler syndrome associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular symptoms are absent. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269PubMed:9506662}. Note=The disease is caused by mutations affecting the gene represented in this entry.Otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]: A skeletal dysplasia characterized by enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and sensorineural hearing loss. Patients have typical facial features, including mid-face hypoplasia with a short upturned nose and depressed nasal bridge. Cleft palate and a small mandible are also common findings. {ECO:0000269PubMed:7859284}. Note=The disease is caused by mutations affecting the gene represented in this entry.Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]: An autosomal dominant disorder characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of bone changes and normal growth in later years. WZS is also referred to as heterozygous OSMED. {ECO:0000269PubMed:9805126}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:10581026}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]: A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:16033917}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fibrochondrogenesis 2 (FBCG2) [MIM:614524]: A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. {ECO:0000269PubMed:22246659}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000885
Fibrillar collagen, C-terminal IPR001791 Laminin G domain IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain IPR008160 Collagen triple helix repeat IPR008985 Concanavalin A-like lectin/glucanases superfamily |
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PFAM |
PF01410
PF00054 PF02210 PF00147 PF01391 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00038
SM00210 SM00282 SM00186 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P13942 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P13942 | ||||||||||||||||||
TrEMBL | Q6LCP7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1302 | ||||||||||||||||||
UniGene | Hs.390171 | ||||||||||||||||||
RefSeq | NP_542411 | ||||||||||||||||||
HUGO | HGNC:2187 | ||||||||||||||||||
OMIM | 120290 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 09049 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AL031228 AL645940 AL662824 AL844527 AL845446 BC053886 CH471081 CR759733 CR936877 J04974 L18987 U32169 U41065 U41066 U41067 U41068 U41069 | ||||||||||||||||||
GenPept | AAA35498 AAA52034 AAC17464 AAC17465 AAC50213 AAC50214 AAC50215 AAH53886 CAA20240 CAI18063 CAI41834 CAI95551 CAM25784 CAQ09060 CAQ09062 CAQ10294 CAQ10296 EAX03676 | ||||||||||||||||||