InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL11A2

Summary

InnateDB Protein

IDBP-239920.7

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

ENSP00000378620

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.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0030020	extracellular matrix structural constituent conferring tensile strength
GO:0030674	protein binding, bridging
GO:0046872	metal ion binding

Biological Process

GO:0001501	skeletal system development
GO:0007605	sensory perception of sound
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0051216	cartilage development
GO:0060021	palate development
GO:0060023	soft palate development