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] See more...

Aliases for SGSM2 Gene

Aliases for SGSM2 Gene

  • Small G Protein Signaling Modulator 2 2 3 4 5
  • RUN And TBC1 Domain Containing 1 2 3
  • KIAA0397 2 4
  • RUTBC1 3 4
  • Small G Protein Signaling Modulator 2 Protein 3
  • RUN And TBC1 Domain-Containing Protein 1 4
  • SGSM2 5

External Ids for SGSM2 Gene

Previous HGNC Symbols for SGSM2 Gene

  • RUTBC1

Previous GeneCards Identifiers for SGSM2 Gene

  • GC17P002188
  • GC17P002137
  • GC17P002240

Summaries for SGSM2 Gene

Entrez Gene Summary for SGSM2 Gene

  • 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]

GeneCards Summary for SGSM2 Gene

SGSM2 (Small G Protein Signaling Modulator 2) is a Protein Coding gene. Diseases associated with SGSM2 include Diabetes Mellitus, Insulin-Dependent, 19 and Chromosome 17P13.3, Centromeric, Duplication Syndrome. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is SGSM1.

UniProtKB/Swiss-Prot Summary for SGSM2 Gene

  • Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).

Gene Wiki entry for SGSM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SGSM2 Gene

Genomics for SGSM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SGSM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SGSM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SGSM2

Top Transcription factor binding sites by QIAGEN in the SGSM2 gene promoter:
  • AREB6
  • ATF6
  • CREB
  • deltaCREB
  • Pax-4a

Genomic Locations for SGSM2 Gene

Genomic Locations for SGSM2 Gene
chr17:2,336,492-2,381,074
(GRCh38/hg38)
Size:
44,583 bases
Orientation:
Plus strand
chr17:2,240,792-2,284,352
(GRCh37/hg19)
Size:
43,561 bases
Orientation:
Plus strand

Genomic View for SGSM2 Gene

Genes around SGSM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGSM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGSM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGSM2 Gene

Proteins for SGSM2 Gene

  • Protein details for SGSM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43147-SGSM2_HUMAN
    Recommended name:
    Small G protein signaling modulator 2
    Protein Accession:
    O43147
    Secondary Accessions:
    • A5LGW2
    • B4DH69
    • Q49AC2
    • Q6ZUY2
    • Q8IXU4

    Protein attributes for SGSM2 Gene

    Size:
    1006 amino acids
    Molecular mass:
    113285 Da
    Quaternary structure:
    • Interacts with RAB4A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A (PubMed:17509819). Interacts with RAB9A (PubMed:26620560, PubMed:21808068).
    SequenceCaution:
    • Sequence=BAA23693.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SGSM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGSM2 Gene

Post-translational modifications for SGSM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SGSM2 Gene

Domains & Families for SGSM2 Gene

Gene Families for SGSM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SGSM2 Gene

InterPro:
Blocks:
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for SGSM2 Gene

GenScript: Design optimal peptide antigens:
  • RUN and TBC1 domain-containing protein 1 (B9A6J3_HUMAN)
  • RUN and TBC1 domain-containing protein 1 (SGSM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43147

UniProtKB/Swiss-Prot:

SGSM2_HUMAN :
  • The Rab-GAP TBC domain possesses GTPase activator activity.
  • Belongs to the RUTBC family.
Domain:
  • The Rab-GAP TBC domain possesses GTPase activator activity.
Family:
  • Belongs to the RUTBC family.
genes like me logo Genes that share domains with SGSM2: view

Function for SGSM2 Gene

Molecular function for SGSM2 Gene

UniProtKB/Swiss-Prot Function:
Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).

Phenotypes From GWAS Catalog for SGSM2 Gene

Gene Ontology (GO) - Molecular Function for SGSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA,IMP 21808068
GO:0017137 Rab GTPase binding IPI 21808068
genes like me logo Genes that share ontologies with SGSM2: view
genes like me logo Genes that share phenotypes with SGSM2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGSM2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SGSM2 Gene

Localization for SGSM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGSM2 Gene

Cytoplasm. Melanosome. Note=Melanosomal localization is mediated by RAB9A. {ECO:0000269 PubMed:26620560}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGSM2 gene
Compartment Confidence
plasma membrane 3
nucleus 3
endosome 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SGSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 26620560
GO:0042470 melanosome IEA,IDA 26620560
genes like me logo Genes that share ontologies with SGSM2: view

Pathways & Interactions for SGSM2 Gene

PathCards logo

SuperPathways for SGSM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SGSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0034499 late endosome to Golgi transport IMP 21808068
GO:0043547 positive regulation of GTPase activity IMP 21808068
GO:0090630 activation of GTPase activity IBA 21873635
genes like me logo Genes that share ontologies with SGSM2: view

No data available for Pathways by source and SIGNOR curated interactions for SGSM2 Gene

Drugs & Compounds for SGSM2 Gene

No Compound Related Data Available

Transcripts for SGSM2 Gene

mRNA/cDNA for SGSM2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGSM2

Alternative Splicing Database (ASD) splice patterns (SP) for SGSM2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a ·
SP1: - - -
SP2: - - - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SGSM2 Gene

GeneLoc Exon Structure for
SGSM2

Expression for SGSM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SGSM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SGSM2 Gene

This gene is overexpressed in Tlymphocyte (28.3), Monocytes (27.7), and Blymphocyte (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SGSM2 Gene



Protein tissue co-expression partners for SGSM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SGSM2

SOURCE GeneReport for Unigene cluster for SGSM2 Gene:

Hs.513861

mRNA Expression by UniProt/SwissProt for SGSM2 Gene:

O43147-SGSM2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SGSM2 Gene

  • Nervous system(4.9)
  • Skin(2.5)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with SGSM2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SGSM2 Gene

Orthologs for SGSM2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SGSM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SGSM2 30 31
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SGSM2 30 31
  • 90.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SGSM2 30
  • 89.67 (n)
SRR 31
  • 74 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sgsm2 30 17 31
  • 88.35 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SGSM2 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sgsm2 30
  • 87.68 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SGSM2 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SGSM2 30 31
  • 73.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SGSM2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sgsm2 30
  • 70.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii SGSM2 31
  • 72 (a)
OneToOne
LOC799094 30
  • 70.6 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1695 31
  • 42 (a)
OneToMany
CG32506 31
  • 41 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 31
  • 17 (a)
OneToMany
Species where no ortholog for SGSM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SGSM2 Gene

ENSEMBL:
Gene Tree for SGSM2 (if available)
TreeFam:
Gene Tree for SGSM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SGSM2: view image

Paralogs for SGSM2 Gene

(4) SIMAP similar genes for SGSM2 Gene using alignment to 7 proteins:

  • SGSM2_HUMAN
  • I3L1Y7_HUMAN
  • I3L361_HUMAN
  • I3NI18_HUMAN
  • J3QSA2_HUMAN
  • V9GYD2_HUMAN
  • V9GYJ0_HUMAN
genes like me logo Genes that share paralogs with SGSM2: view

Variants for SGSM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SGSM2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
713920 Benign: not provided 2,372,407(+) C/T SYNONYMOUS_VARIANT
768818 Benign: not provided 2,373,413(+) G/A MISSENSE_VARIANT
784349 Benign: not provided 2,364,076(+) G/A SYNONYMOUS_VARIANT
784350 Benign: not provided 2,371,263(+) C/T SYNONYMOUS_VARIANT
785548 Benign: not provided 2,361,739(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SGSM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SGSM2 Gene

Variant ID Type Subtype PubMed ID
dgv3082n100 CNV loss 25217958
dgv3083n100 CNV gain 25217958
dgv878e212 CNV loss 25503493
esv1171750 CNV deletion 17803354
esv2715501 CNV deletion 23290073
esv27399 CNV gain+loss 19812545
esv3352482 CNV duplication 20981092
esv3445644 CNV duplication 20981092
esv3582478 CNV loss 25503493
esv3582482 CNV loss 25503493
nsv1055225 CNV loss 25217958
nsv1060897 CNV loss 25217958
nsv1063109 CNV gain 25217958
nsv1066475 CNV loss 25217958
nsv1067416 CNV loss 25217958
nsv1126447 CNV deletion 24896259
nsv1160443 CNV deletion 26073780
nsv1160444 CNV deletion 26073780
nsv1160445 CNV duplication 26073780
nsv469765 CNV loss 16826518
nsv470569 CNV loss 18288195
nsv475785 CNV novel sequence insertion 20440878
nsv512469 CNV loss 21212237
nsv517489 CNV loss 19592680
nsv574224 CNV gain 21841781
nsv820502 CNV deletion 20802225
nsv827858 CNV gain 20364138
nsv833336 CNV loss 17160897
nsv833338 CNV loss 17160897
nsv952104 CNV deletion 24416366

Variation tolerance for SGSM2 Gene

Residual Variation Intolerance Score: 63.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.29; 70.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SGSM2 Gene

Human Gene Mutation Database (HGMD)
SGSM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGSM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGSM2 Gene

Disorders for SGSM2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SGSM2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent, 19
  • iddm19
chromosome 17p13.3, centromeric, duplication syndrome
  • chromosome 17p13.3 duplication syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SGSM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SGSM2

genes like me logo Genes that share disorders with SGSM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SGSM2 Gene

Publications for SGSM2 Gene

  1. RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. (PMID: 21808068) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2011) 2 3 4
  2. Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. (PMID: 17509819) Yang H … Shimizu N (Genomics 2007) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  4. RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes. (PMID: 26620560) Marubashi S … Ohbayashi N (The Journal of biological chemistry 2016) 3 4
  5. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (PMID: 21873549) Strawbridge RJ … Florez JC (Diabetes 2011) 3 41

Products for SGSM2 Gene

Sources for SGSM2 Gene