1. Gene
  2. RIMBP2 - RIMS binding protein 2 Gene

RIMBP2 - RIMS binding protein 2 Gene

中文名称:RIMS 结合蛋白 2

种属: Homo sapiens

同用名: RBP2; RIM-BP2; PPP1R133

基因 ID: 23504 | 基因类型: protein coding

关于 RIMBP2

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:130,396,133-130,716,299 (from NCBI)

This gene has 15 transcripts (splice variants), 269 orthologues and 4 paralogues. Biased expression in brain (RPKM 6.7), adrenal (RPKM 4.2) and 9 other tissues.

功能概要

预计参与神经肌肉突触传递。预测位于质膜和突触中。预测在突触前活动区细胞质成分中活跃。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in neuromuscular synaptic transmission. Predicted to be located in plasma membrane and synapse. Predicted to be active in presynaptic active zone cytoplasmic component. [provided by Alliance of Genome Resources, Apr 2022]

RIMBP2 基因产物(25)

mRNA Protein Name
NM_001351226.2 NP_001338155.1 RIMS-binding protein 2 isoform a
NM_001351227.2 NP_001338156.1 RIMS-binding protein 2 isoform a
NM_001351228.2 NP_001338157.1 RIMS-binding protein 2 isoform a
NM_001351229.2 NP_001338158.1 RIMS-binding protein 2 isoform b
NM_001351230.2 NP_001338159.1 RIMS-binding protein 2 isoform c
NM_001351231.2 NP_001338160.1 RIMS-binding protein 2 isoform d
NM_001351232.2 NP_001338161.1 RIMS-binding protein 2 isoform f
NM_001351233.2 NP_001338162.1 RIMS-binding protein 2 isoform g
NM_001393614.1 NP_001380543.1 RIMS-binding protein 2 isoform h
NM_001393615.1 NP_001380544.1 RIMS-binding protein 2 isoform i
NM_001393616.1 NP_001380545.1 RIMS-binding protein 2 isoform i
NM_001393617.1 NP_001380546.1 RIMS-binding protein 2 isoform i
NM_001393618.1 NP_001380547.1 RIMS-binding protein 2 isoform a
NM_001393619.1 NP_001380548.1 RIMS-binding protein 2 isoform a
NM_001393620.1 NP_001380549.1 RIMS-binding protein 2 isoform c
NM_001393621.1 NP_001380550.1 RIMS-binding protein 2 isoform c
NM_001393622.1 NP_001380551.1 RIMS-binding protein 2 isoform c
NM_001393623.1 NP_001380552.1 RIMS-binding protein 2 isoform c
NM_001393624.1 NP_001380553.1 RIMS-binding protein 2 isoform d
NM_001393625.1 NP_001380554.1 RIMS-binding protein 2 isoform j
NM_001393626.1 NP_001380555.1 RIMS-binding protein 2 isoform j
NM_001393627.1 NP_001380556.1 RIMS-binding protein 2 isoform j
NM_001393628.1 NP_001380557.1 RIMS-binding protein 2 isoform k
NM_001393629.1 NP_001380558.1 RIMS-binding protein 2 isoform l
NM_015347.5 NP_056162.4 RIMS-binding protein 2 isoform e
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
32296183 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

RIMBP2 蛋白结构

SH3_9

SH3_9: Variant SH3 domain (180 - 230)

SH3_2

SH3_2: Variant SH3 domain (853 - 914)

SH3_9

SH3_9: Variant SH3 domain (959 - 1015)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1052 a.a.
蛋白主名 其他名称

RIMS-binding protein 2

RIM binding protein 2

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Myopathy, Centronuclear, 6, With Fiber-Type Disproportion

CNM6

Centronuclear Myopathy 6 With Fiber-Type Disproportion

Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion

Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf

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