1. Gene
  2. PRCD - photoreceptor disc component Gene

PRCD - photoreceptor disc component Gene

中文名称:感光盘组件

种属: Homo sapiens

同用名: RP36

基因 ID: 768206 | 基因类型: protein coding

关于 PRCD

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,527,586-76,553,580 (from NCBI)

This gene has 13 transcripts (splice variants), 66 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 1.8), adrenal (RPKM 1.0) and 23 other tissues.

功能概要

该基因主要在视网膜中表达,该基因的突变是人类和狗常染色体隐性遗传性视网膜变性的原因。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2010 年 3 月]

This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

PRCD 基因产物(1)

mRNA Protein Name
NM_001077620.3 NP_001071088.1 photoreceptor disk component PRCD 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 Golgi apparatus IDA
IDA: 通过直接分析推断
24992209 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
24992209 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
24992209 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
24992209 GOA
located in photoreceptor outer segment membrane IDA
IDA: 通过直接分析推断
27613864 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

PRCD 蛋白结构

Rod_cone_degen

Rod_cone_degen: Progressive rod-cone degeneration (1 - 54)

  • 0
  • 54 a.a.
蛋白主名 其他名称

photoreceptor disk component PRCD

progressive rod-cone degeneration protein

关联疾病

疾病名称 别名
Retinitis Pigmentosa 36

RP36

Retinitis Pigmentosa-36

Retinitis Pigmentosa, Type 36

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

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Ichthyosis, Congenital, Autosomal Recessive 10

Autosomal Recessive Congenital Ichthyosis 10

ARCI10

Ichthyosis, Congenital, Autosomal Recessive, Type 10

Cone-Rod Dystrophy 1

CORD1

Crd1

Cone-Rod Retinal Dystrophy-1

Retinitis Pigmentosa 1

Macular Degeneration, X-Linked Atrophic

X-Linked Atrophic Macular Degeneration

Macular Degeneration, X-Linked, Atrophic

MDXLA

Degeneration, Macular, X-Linked Atrophic

Retinitis Pigmentosa 17

RP17

Retinitis Pigmentosa-17

Retinitis Pigmentosa, Type 17

Corneal Dystrophy, Posterior Amorphous

Posterior Amorphous Corneal Dystrophy

PACD

Chromosome 12q21.33 Deletion Syndrome

Posterior Amorphous Stromal Dystrophy

Ceroid Lipofuscinosis, Neuronal, 5

Neuronal Ceroid Lipofuscinosis 5

CLN5

Cln5 Disease

Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis

Vlincl

Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset

Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset

Cln5 Disease, Adult

Cln5 Disease, Juvenile

Cln5 Disease, Late Infantile

Neuronal Ceroid Lipofuscinosis Finnish Variant

Finnish Vlincl

Jansky-Bielschowsky Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis, Late-Infantile

Finnish

Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset

Lipofuscinosis, Ceroid, Neuronal, Type 5

Late-Infantile Neuronal Ceroid Lipfuscinosis

Ceroid Lipofuscinosis, Neuronal, 6

Retinal Degeneration

Degeneration Of Retina

Chronic Interstitial Cystitis
Bestrophinopathy, Autosomal Recessive

Bestrophinopathy

Autosomal Recessive Bestrophinopathy

ARB

Bestrophinopathies

Retinopathy, Burgess-Black Type

Retinopathy Burgess-Black Type

Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa

Sveinsson Chorioretinal Atrophy

SCRA

Atrophia Areata

Helicoid Peripapillary Chorioretinal Degeneration

Hpcd

Aa

Peripapillary Chorioretinal Degeneration, Icelandic Type

Helicoidal Peripapillary Chorioretinal Degeneration

Atrophy, Chorioretinal, Sveinsson

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Eye Degenerative Disease
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

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
Bos taurus PRCD VGNC VGNC:33286
Rattus norvegicus PRCD RGD RGD:6488422
Canis familiaris PRCD VGNC VGNC:44942
Mus musculus PRCD MGD MGI:3649529
Macaca mulatta PRCD VGNC VGNC:104643
Felis catus PRCD VGNC VGNC:99324