RBSN - rabenosyn, RAB effector Gene

Homo sapiens

Also known as ZFYVE20; Rabenosyn-5

Gene ID: 64145 | Gene type: protein coding

About RBSN

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:15,070,073-15,099,148 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 10.8), thyroid (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

RBSN Products(2)

mRNA	Protein	Name
NM_001302378.2	NP_001289307.1	rabenosyn-5
NM_022340.4	NP_071735.2	rabenosyn-5

RBSN Protein Structure

FYVE

Rbsn

0
200
400
600
784 a.a.

Protein Preferred Names

Protein Names

rabenosyn-5

110 kDa protein

Related Diseases

Diseases

Alias

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome	Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome
Vps45 Deficiency	Scn5

Cataract 14, Multiple Types

Cataract 14 Multiple Types	CTRCT14
Czp3	Cae3
Cataract, Zonular Pulverulent 3	Zonular Pulverulent Cataract 3
Cataract, Zonular Pulverulent-3	Cataract, Type 14, Multiple Types

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type	Gd Iii
Gaucher Disease, Chronic Neuronopathic Type	Gaucher Disease, Juvenile And Adult, Cerebral
Gaucher Disease Type 3	GD3
Gaucher'S Disease Type Iii	Gaucher Disease Type Iii
Gd 3	Cerebral Juvenile And Adult Form Of Gaucher Disease
Chronic Neuronopathic Gaucher Disease	Gaucher Disease 3
Cerebral, Juvenile And Adult, Gaucher Disease	Gaucher Disease Chronic Neuronopathic Type
Gaucher Disease Type Ii	Subacute Neuronopathic Gaucher Disease
Type 3 Gaucher Disease	Gaucher Disease, Type 3
Gaucher Disease, Type 2

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11775	RBSN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RBSN	RGD	RGD:1305397
Macaca mulatta	RBSN	VGNC	VGNC:76784
Mus musculus	RBSN	MGD	MGI:1925537
Canis familiaris	RBSN	VGNC	VGNC:97217
Bos taurus	RBSN	VGNC	VGNC:33818
Felis catus	RBSN	VGNC	VGNC:64539