RIMBP2 - RIMS binding protein 2 Gene

Also Known as RBP2; RIM-BP2; PPP1R133

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23504

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RIMBP2 Protein Structure

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.
Protein Preferred Names Protein Names

RIMS-binding protein 2

  • RIM binding protein 2

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11976 RIMBP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown