SGSM2 - small G protein signaling modulator 2 Gene

Also Known as RUTBC1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 9905

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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

RUN: RUN domain (42 - 189)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (791 - 960)

  • 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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS12814 SGSM2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others SGSM2 NCBI