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Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
OPTC (Opticin) is a Protein Coding gene. Diseases associated with OPTC include Open-Angle Glaucoma and Vitreous Syneresis. Among its related pathways are Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is LRWD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | TAS | 10636917 |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0031012 | extracellular matrix | TAS,IDA | 18164633 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030199 | collagen fibril organization | ISS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | OPTC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OPTC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | OPTC 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Optc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Optc 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | OPTC 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | OPTC 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | OPTC 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | optc 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | optc 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
677222 | Benign: not provided | 203,502,984(+) | T/C | MISSENSE_VARIANT | |
770499 | Benign: not provided | 203,497,062(+) | C/T | MISSENSE_VARIANT | |
rs139024490 | - | p.Ile182Thr | |||
rs150633473 | - | p.Arg229Cys | |||
rs56219555 | - | p.Arg325Trp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1567874 | CNV | insertion | 17803354 |
esv2762217 | CNV | gain | 21179565 |
nsv1069209 | CNV | deletion | 25765185 |
nsv952640 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
open-angle glaucoma |
|
|
vitreous syneresis |
|
|
posterior column ataxia |
|
|
macular degeneration, age-related, 1 |
|
|
vitreous detachment |
|
|