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Aliases for SGSM2 Gene

Aliases for SGSM2 Gene

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

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. 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 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGSM2 Gene

Genomics for SGSM2 Gene

Regulatory Elements for SGSM2 Gene

Enhancers for SGSM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F002345 1.2 Ensembl ENCODE 48.5 +9.9 9944 3.5 PKNOX1 ARID4B SIN3A YY1 ZNF121 GLIS2 FOS NFYC KAT8 SREBF1 SGSM2 SRR SMG6 MNT ENSG00000263345 TSR1 GC17M002359
GH17F002390 1.6 FANTOM5 ENCODE 15.6 +61.5 61514 18.6 CREB3L1 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 METTL16 SMYD4 ENSG00000263345 SMG6 MNT EIF4A1P9 SAMD11P1 ENSG00000262869 OR1E3 OR1D2
GH17F002211 1.9 ENCODE 11.5 -122.8 -122786 6.0 HDGF TBP PKNOX1 SIN3A FEZF1 RAD21 ZBTB40 ZNF121 ELK1 ZNF207 SRR SGSM2 LOC105371487 ENSG00000236457 RN7SL624P
GH17F002357 1.2 Ensembl ENCODE 16.9 +21.8 21759 2.8 TBP PKNOX1 INSM2 ZNF76 KLF17 GLIS2 ZNF366 SCRT2 FOS SMARCC1 SGSM2 MNT TSR1 SNORD91A SNORD91B SMG6 SRR HIC1 OVCA2 METTL16
GH17F003048 1.6 FANTOM5 Ensembl ENCODE 11.3 +711.6 711603 1.8 PKNOX1 ARID4B SIN3A GLI4 ZNF48 GLIS2 ZNF143 FOS CEBPZ SP3 TSR1 METTL16 SGSM2 ASPA PAFAH1B1 GC17P003059 PIR50205
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGSM2 on UCSC Golden Path with GeneCards custom track

Promoters for SGSM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001339052 -398 3400 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Location for SGSM2 Gene

Chromosome:
17
Start:
2,337,498 bp from pter
End:
2,381,074 bp from pter
Size:
43,577 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

Protein Domains for SGSM2 Gene

Suggested Antigen Peptide Sequences for SGSM2 Gene

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.
  • Contains 1 Rab-GAP TBC domain.
  • Contains 1 RUN domain.
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).

Gene Ontology (GO) - Molecular Function for SGSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity 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

Inhibitory RNA Products

Flow Cytometry Products

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
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SGSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 26620560
GO:0012505 endomembrane system IBA --
GO:0042470 melanosome IEA,IDA 26620560
genes like me logo Genes that share ontologies with SGSM2: view

Pathways & Interactions for SGSM2 Gene

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 --
GO:0031338 regulation of vesicle fusion IBA --
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 --
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

Transcripts for SGSM2 Gene

Unigene Clusters for SGSM2 Gene

Small G protein signaling modulator 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
SGSM2

Expression for SGSM2 Gene

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

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, PaxDb, and MOPED for SGSM2 Gene



Protein tissue co-expression partners for SGSM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SGSM2 Gene:

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.
genes like me logo Genes that share expression patterns with SGSM2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia SGSM2 34 35
  • 90.11 (n)
dog
(Canis familiaris)
Mammalia SGSM2 34
  • 89.67 (n)
SRR 35
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgsm2 34 16 35
  • 88.35 (n)
oppossum
(Monodelphis domestica)
Mammalia SGSM2 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgsm2 34
  • 87.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SGSM2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGSM2 34 35
  • 73.53 (n)
lizard
(Anolis carolinensis)
Reptilia SGSM2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsm2 34
  • 70.83 (n)
zebrafish
(Danio rerio)
Actinopterygii SGSM2 35
  • 72 (a)
OneToOne
LOC799094 34
  • 70.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1695 35
  • 42 (a)
OneToMany
CG32506 35
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 35
  • 17 (a)
OneToMany
Species where no ortholog for SGSM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SGSM2 Gene

Paralogs for SGSM2 Gene

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

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

Variants for SGSM2 Gene

Sequence variations from dbSNP and Humsavar for SGSM2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs864622032 Uncertain significance 2,372,396(+) CGCTG(A/G)TGCAC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1043745 -- 2,380,810(+) CCCTT(C/T)TGCAC nc-transcript-variant, utr-variant-3-prime
rs1043755 -- 2,380,843(+) GCCCT(C/G)CCCCC nc-transcript-variant, utr-variant-3-prime
rs1043775 -- 2,380,867(+) CCTGT(C/T)TGGGG nc-transcript-variant, utr-variant-3-prime
rs10543605 -- 2,377,524(+) AAATT(-/GAG)GAGGA intron-variant

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

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

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)

Relevant External Links for SGSM2 Gene

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

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

Disorders for SGSM2 Gene

Relevant External Links for SGSM2

Genetic Association Database (GAD)
SGSM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGSM2

No disorders were found for SGSM2 Gene.

No data available for MalaCards , 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 R.M. … Pfeffer S.R. (J. Biol. Chem. 2011) 2 3 4 64
  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 64
  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 Res. 1997) 2 3 4 64
  4. RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes. (PMID: 26620560) Marubashi S. … Ohbayashi N. (J. Biol. Chem. 2016) 3 4 64
  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 R.J. … Florez J.C. (Diabetes 2011) 3 46 64

Products for SGSM2 Gene

Sources for SGSM2 Gene

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