1. Gene
  2. OPTC - opticin Gene

OPTC - opticin Gene

中文名称:视蛋白

种属: Homo sapiens

同用名: OPT

基因 ID: 26254 | 基因类型: protein coding

关于 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.

功能概要

Opticin 属于富含亮氨酸的小重复蛋白 (SLRP) 家族的 III 类。该家族的成员通常与细胞外基质有关。视蛋白大量存在于眼睛的玻璃体中,并且还定位于角膜、虹膜、睫状体、视神经、脉络膜、视网膜和胎肝。 Opticin 可以非共价结合胶原纤维并调节纤维形态、间距和组织。 opticin 基因被映射到与遗传性眼病年龄相关性黄斑变性 (AMD) 和视网膜色素变性后柱共济失调 (AXPC1) 相关的 1 号染色体区域。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_014359.4 NP_055174.1 opticin precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular matrix IDA
IDA: 通过直接分析推断
18164633 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

OPTC 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (157 - 213)

  • 0
  • 100
  • 200
  • 300
  • 332 a.a.
蛋白主名 其他名称

opticin

oculoglycan

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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