SGSM2 - small G protein signaling modulator 2 Gene

Homo sapiens

Also known as RUTBC1

Gene ID: 9905 | Gene type: protein coding

About SGSM2

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:2,337,501-2,381,054 (from NCBI)

This gene has 14 transcripts (splice variants), 194 orthologues and 45 paralogues. Ubiquitous expression in brain (RPKM 17.5), prostate (RPKM 14.3) and 25 other tissues.

Summary

The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]

SGSM2 Products(3)

mRNA	Protein	Name
NM_001098509.2	NP_001091979.1	small G protein signaling modulator 2 isoform 2
NM_001346700.2	NP_001333629.1	small G protein signaling modulator 2 isoform 3
NM_014853.3	NP_055668.2	small G protein signaling modulator 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activator activity	IMP IMP: Inferred from mutant phenotype	21808068	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	21808068	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in late endosome to Golgi transport	IMP IMP: Inferred from mutant phenotype	21808068	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	21808068	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	26620560	GOA
located in melanosome	IDA IDA: Inferred from direct assay	26620560	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

SGSM2 Protein Structure

RUN

RabGAP-TBC

0
200
400
600
800
1006 a.a.

Protein Preferred Names

Protein Names

small G protein signaling modulator 2

RUN and TBC1 domain containing 1

Related Diseases

Diseases

Alias

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency	Naga Deficiency
Alpha-Galactosidase B Deficiency	Alpha-Galnac Deficiency, Schindler Type
Alpha-Naga Deficiency	Angiokeratoma Corporis Diffusum-Glycopeptiduria
Galb Deficiency	Kanzaki Disease
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum	Neuroaxonal Dystrophy, Schindler Type
Neuronal Axonal Dystrophy, Schindler Type	Schindler Disease, Type I
Schindler Disease, Type Ii

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-RS12814	SGSM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SGSM2	VGNC	VGNC:65085
Rattus norvegicus	SGSM2	RGD	RGD:1306957
Bos taurus	SGSM2	VGNC	VGNC:34551
Mus musculus	SGSM2	MGD	MGI:2144695

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