1. Gene
  2. PCARE - photoreceptor cilium actin regulator Gene

PCARE - photoreceptor cilium actin regulator Gene

中文名称:光感受因子纤毛肌动蛋白调节因子

种属: Homo sapiens

同用名: RP54; C2orf71

基因 ID: 388939 | 基因类型: protein coding

关于 PCARE

Cytogenetic location: 2p23.2 Genomic coordinates (GRCh38): 2:29,061,695-29,074,523 (from NCBI)

This gene has 2 transcripts (splice variants), 229 orthologues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质在光感受器中高度表达,并可能与外段的初级纤毛结合。编码的蛋白质似乎经历了翻译后脂质修饰。该基因的无义和错义变异似乎会导致隐性视网膜色素变性。[RefSeq 提供,2010 年 6 月]

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

PCARE 基因产物(1)

mRNA Protein Name
NM_001029883.3 NP_001025054.1 photoreceptor cilium actin regulator
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 cilium IDA
IDA: 通过直接分析推断
20398886 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

PCARE 蛋白结构

Retinal

Retinal: Retinal protein (1 - 1264)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1288 a.a.
蛋白主名 其他名称

photoreceptor cilium actin regulator

uncharacterized protein C2orf71

关联疾病

疾病名称 别名
Retinitis Pigmentosa 54

RP54

Retinitis Pigmentosa, Type 54

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

Retinitis Pigmentosa 89

RP89

Retinitis Pigmentosa, Type 89

Occult Macular Dystrophy

OCMD

Omd

Dystrophy, Macular, Occult

Deafness, Autosomal Recessive 31

DFNB31

Whirler, Mouse, Homolog Of

Autosomal Recessive Nonsyndromic Deafness 31

Autosomal Recessive Deafness 31

Deafness, Autosomal Recessive, 31

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31

Deafness, Autosomal Recessive, Type 31

Retinitis Pigmentosa 74

RP74

Retinitis Pigmentosa, Type 74

Retinitis Pigmentosa 88

RP88

Retinitis Pigmentosa, Type 88

Pigmented Paravenous Chorioretinal Atrophy

Pigmented Paravenous Retinochoroidal Atrophy

PPCRA

Pprca

Atrophy, Chorioretinal, Pigmented Paravenous

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64

Retinal Dystrophy With Early Macular Involvement

CORD16

RP64

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina

Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis

Choroidal Dystrophy

Choroidal Dystrophy, Central Areolar

Cacd

Central Areolar Choroidal Dystrophy

CACD1

Choroidal Dystrophy, Central Areolar 1

Choroidal Dystrophy Central Areolar

Central Areolar Choroidal Sclerosis

Choroidal Degenerations

Areolar Atrophy Of The Macula

Partial Central Choroid Dystrophy

Degenerative Choroidopathy

Chorioretinal Degeneration

Hereditary Chorioretinal Degeneration

Hereditary Degeneration Of Choroid

Hereditary Choroidal Dystrophies

Generalised Choroidal Dystrophy

Hereditary Choroidopathy

Usher Syndrome, Type Iia

Usher Syndrome Type 2a

USH2A

Usher Syndrome, Type 2a

Usher Syndrome Type Iia

Retinal Disease In Usher Syndrome Type Iia, Modifier Of

Us2

Ush2

Usher Syndrome 2a

Usher'S Syndrome Type 2a

Ushiia

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

Vitelliform Macular Dystrophy

Best Disease

Juvenile-Onset Vitelliform Macular Dystrophy

Macular Dystrophy, Vitelliform

Best Macular Dystrophy

Vitelliform Dystrophy

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

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

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

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
Felis catus PCARE VGNC VGNC:82428
Mus musculus PCARE MGD MGI:2385061
Canis familiaris PCARE VGNC VGNC:49223
Bos taurus PCARE VGNC VGNC:52619
Macaca mulatta PCARE VGNC VGNC:75709
Rattus norvegicus PCARE RGD RGD:1304963