RIMBP2 - RIMS binding protein 2 Gene

Homo sapiens

Also known as RBP2; RIM-BP2; PPP1R133

Gene ID: 23504 | Gene type: protein coding

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	Reference	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_2

SH3_9

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11976	RIMBP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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