OPTC - opticin Gene

Also Known as OPT

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26254

About OPTC

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,494,153-203,508,949 (from NCBI)

This gene has 2 transcripts (splice variants), 111 orthologues and 1 paralogue. Low expression observed in reference dataset.

Summary

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 Products (1)

mRNA Protein Name
NM_014359.4 NP_055174.1 opticin precursor
Cellular Component GO Annotation Evidence References Source
located in extracellular matrix IDA
IDA: Inferred from direct assay
18164633 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OPTC Protein Structure

LRR_8

LRR_8: Leucine rich repeat (157 - 213)

  • 0
  • 100
  • 200
  • 300
  • 332 a.a.
Protein Preferred Names Protein Names

opticin

  • oculoglycan

Related Diseases

Diseases Alias
Posterior Column Ataxia
  • Biemond Ataxia

Open-Angle Glaucoma
  • Glaucoma Simplex

  • Pigmentary Glaucoma

  • Wide-Angle Glaucoma

  • Glaucoma, Open-Angle

  • Open Angle Glaucoma

  • Glaucoma Open-Angle

  • Chronic Simple Glaucoma

  • Coag - [Chronic Open-Angle Glaucoma]

  • Csg - [Chronic Simple Glaucoma]

  • Poag - [Primary Open-Angle Glaucoma]

  • Oag - [Open-Angle Glaucoma]

  • Chronic Glaucoma

  • Chronic Open Angle Glaucoma

  • Simple Glaucoma

  • Chronic Noncongestive Glaucoma

  • Ltg - [Low Tension Glaucoma]

  • Noncongestive Glaucoma

  • Nonobstructive Glaucoma

  • Normal Pressure Glaucoma

  • Primary Low Tension Glaucoma

  • Low-Tension Glaucoma

  • Residual Stage Low Tension Glaucoma

  • Open Cleft Glaucoma

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Vitreous Detachment
  • Posterior Vitreous Detachment

  • Vitreous Syneresis

Vitreoretinal Dystrophy
  • Vitreoretinal Dystrophies

Retinal Perforation
  • Retinal Break

  • Retinal Perforations

  • Retinal Dialysis

  • Retinal Tear

  • Retinal Break Nos

  • Ruptured Retina

Vitreous Syneresis
  • Vitreous Degeneration

Vitreous Disease
  • Disorder Of Vitreous Body

Cornea Plana
  • Flat Cornea

Macular Holes
  • Macular Hole

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Optic Disk Drusen
  • Optic Disc Drusen

  • Drusen Of Optic Disc

  • Optic Nerve Head Drusen

  • Drusen Optic Disc

Glaucoma, Normal Tension
  • Low Tension Glaucoma

  • Glaucoma, Normal Tension, Susceptibility To

  • Normal Tension Glaucoma

  • Ntg

  • Glaucoma, Normal Pressure

  • NPG

  • Glaucoma, Normal Pressure, Susceptibility To

  • Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Stickler Syndrome
  • Arthroophthalmopathy

  • Hereditary Arthro-Ophthalmo-Dystrophy

  • Hereditary Arthro-Ophthalmopathy

  • Stickler Dysplasia

  • Hereditary Progressive Arthroophthalmopathy

  • Stickler Syndrome, Type 1

Glaucoma, Primary Open Angle
  • Glaucoma 1, Open Angle, E

  • Primary Open Angle Glaucoma

  • POAG

  • Adult-Onset Primary Open Angle Glaucoma

  • Chronic Simple Glaucoma

  • GLC1E

  • Primary Open Angle Glaucoma 1e

  • Glaucoma, Open Angle, Primary

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta OPTC VGNC VGNC:75590
Rattus norvegicus OPTC RGD RGD:1304916
Felis catus OPTC VGNC VGNC:68637
Mus musculus OPTC MGD MGI:2151113
Canis familiaris OPTC VGNC VGNC:44135
Bos taurus OPTC VGNC VGNC:32441