2. Gene
  3. RP2 - RP2 activator of ARL3 GTPase Gene

RP2 - RP2 activator of ARL3 GTPase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ARL3 GTP 酶的 RP2 激活因子

种属: Homo sapiens

同用名: XRP2; NME10; TBCCD2; NM23-H10; DELXp11.3

基因 ID: 6102 | 基因类型: protein coding

关于 RP2

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:46,837,043-46,882,358 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 18.5), placenta (RPKM 13.6) and 24 other tissues.

功能概要

RP2 基因座被认为是 X 连锁视网膜色素变性的原因之一。预测的基因产物与人类辅因子 C 具有同源性，后者是一种参与 β-微管蛋白折叠最终步骤的蛋白质。因此，进行性视网膜变性可能是由于错误折叠的光感受器或神经元特异性微管蛋白亚型的积累，随后是进行性细胞死亡[RefSeq 提供，2008 年 7 月]

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

RP2 基因产物(1)

mRNA Protein Name
NM_006915.3 NP_008846.2 protein XRP2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activator activity IDA
IDA: 通过直接分析推断
11847227 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
26455799 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11847227 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within post-Golgi vesicle-mediated transport IGI
IGI: 通过遗传相互作用推断
20106869 GOA
acts upstream of or within post-Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
20106869 GOA
NOT involved in post-chaperonin tubulin folding pathway IDA
IDA: 通过直接分析推断
11847227 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ciliary basal body IDA
IDA: 通过直接分析推断
20106869 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
12417528 GOA
located in cytoplasmic vesicle IGI
IGI: 通过遗传相互作用推断
20106869 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12417528 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

RP2 蛋白结构

TBCC

TBCC: Tubulin binding cofactor C (59 - 177)

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

protein XRP2

RP2, ARL3 GTPase activating protein

重组 RP2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74593 RP2 Protein, Human (sf9, GST) O75695 (M1-T350) ≥95%

关联疾病

疾病名称 别名
Retinitis Pigmentosa 2

RP2

X-Linked Retinitis Pigmentosa 2

Xlrp2

Xlrp-2

Retinitis Pigmentosa-2

Retinitis Pigmentosa, Type 2
Retinitis Pigmentosa 3

RP3

Retinitis Pigmentosa 15

Rp15

Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women

Cone-Rod Degeneration, X-Linked

Retinitis Pigmentosa Type 15

X-Linked Cone-Rod Degeneration

X-Linked Retinitis Pigmentosa 3

Xlrp3

Xlrp-3

Retinitis Pigmentosa-3

Retinitis Pigmentosa, Type 3
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
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
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
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy
Ciliary Dyskinesia, Primary, 6

Primary Ciliary Dyskinesia 6

CILD6

Ics6

Immotile Cilia Syndrome 6

Dyskinesia, Ciliary, Primary, 6
Retinal Degeneration

Degeneration Of Retina
Night Blindness

Nyctalopia
Retinitis Pigmentosa 13

RP13

Retinitis Pigmentosa-13

Retinitis Pigmentosa, Type 13
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
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

相关产品

Clinical Phase
生物活性分子 (4)
目录号 产品名 作用方式
纯度 Phase
HY-109067A Opiranserin hydrochloride Antagonist 99.44% Phase 3
HY-109067 Opiranserin Antagonist / Phase 3
HY-123857 JNJ-55308942 Antagonist 99.92% Phase 2
HY-117508 JNJ-54175446 Antagonist 99.30% Phase 2
Pre-clinical Phase
生物活性分子 (8)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-112461A NF449 octasodium Antagonist ≥99.0% 否
HY-122575 Aurintricarboxylic acid ≥92.0% 否
HY-101911 5-BDBD Antagonist 99.94% 否
HY-15568 A-317491 Antagonist 98.77% 否
HY-15568A A-317491 sodium salt hydrate Antagonist 99.88% 否
HY-112461 NF449 Antagonist / 否
HY-153710 P2X3 antagonist 38 Antagonist / 否
HY-RS12140 RP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris RP2 VGNC VGNC:45700
Macaca mulatta RP2 VGNC VGNC:76720
Rattus norvegicus RP2 RGD RGD:1565124
Mus musculus RP2 MGD MGI:1277953
Bos taurus RP2 VGNC VGNC:34092
Macaca fascicularis RP2 NCBI NCBI:102132768
Others RP2 NCBI
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