1. Gene
  2. CBARP - CACN subunit beta associated regulatory protein Gene

CBARP - CACN subunit beta associated regulatory protein Gene

中文名称:CACN 亚基β相关调节蛋白

种属: Homo sapiens

同用名: DOS; BARP; C19orf26

基因 ID: 255057 | 基因类型: protein coding

关于 CBARP

This gene has 7 transcripts (splice variants) and 182 orthologues. Biased expression in brain (RPKM 2.8), adrenal (RPKM 1.1) and 12 other tissues.

功能概要

预测启用跨膜转运蛋白结合活性。预计参与钙离子依赖性胞吐作用的负调节和电压门控钙通道活性的负调节。预测位于突触小泡膜。预计是膜的组成部分。预计在质膜上有活性。预测与生长锥和分泌颗粒共定位。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated Calcium Channel activity. Predicted to be located in synaptic vesicle membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Predicted to colocalize with growth cone and secretory granule. [provided by Alliance of Genome Resources, Apr 2022]

CBARP 基因产物(2)

mRNA Protein Name
NM_001393918.1 NP_001380847.1 voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 1
NM_152769.3 NP_689982.3 voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 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
蛋白主名 其他名称

voltage-dependent calcium channel beta subunit-associated regulatory protein

CACN beta subunit associated regulatory protein

关联疾病

疾病名称 别名
Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii

Rapp-Hodgkin Syndrome

RHS

Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate

Ectodermal Dysplasia, Rapp-Hodgkin Type

Rapp-Hodgkin Ectodermal Dysplasia Syndrome

Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate

Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type

Edrh

Rapp-Hodgkin Ectodermal Dysplasia

Orofacial Cleft 8

Sleeping Sickness

African Trypanosomiasis

African Sleeping Sickness

Trypanosomiasis, Human East-African

Trypanosomiasis, East African

Trypanosomiasis African

Trypanosomiasis, African

Human African Trypanosomiasis

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
Rattus norvegicus CBARP RGD RGD:1307185
Bos taurus CBARP VGNC VGNC:26806
Macaca mulatta CBARP VGNC VGNC:70662
Mus musculus CBARP MGD MGI:1354170
Canis familiaris CBARP VGNC VGNC:54587
Felis catus CBARP VGNC VGNC:108360