Entity Details

Primary name COBA2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP13942
EntryNameCOBA2_HUMAN
FullNameCollagen alpha-2(XI) chain
TaxID9606
Evidenceevidence at protein level
Length1736
SequenceStatuscomplete
DateCreated1990-01-01
DateModified2021-06-02

Ontological Relatives

GenesCOL11A2

GO terms

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GOName
GO:0001501 skeletal system development
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005592 collagen type XI trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0007605 sensory perception of sound
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030674 protein-macromolecule adaptor activity
GO:0031012 extracellular matrix
GO:0046872 metal ion binding
GO:0051216 cartilage development
GO:0060021 roof of mouth development
GO:0060023 soft palate development
GO:0062023 collagen-containing extracellular matrix

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000885 Fibrillar collagen, C-terminalDomainDomain
IPR001791 Laminin G domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614524 OMIMFibrochondrogenesis 2 (FBCG2)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. The disease is caused by variants affecting the gene represented in this entry.
184840 OMIMOtospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA)An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. The disease is caused by variants affecting the gene represented in this entry.
215150 OMIMOtospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB)An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. The disease is caused by variants affecting the gene represented in this entry.
601868 OMIMDeafness, autosomal dominant, 13 (DFNA13)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. The disease is caused by variants affecting the gene represented in this entry.
609706 OMIMDeafness, autosomal recessive, 53 (DFNB53)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions