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

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 TBC1D25.

Gene Wiki entry for SGSM2 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SGSM2 on UCSC Golden Path with GeneCards custom track

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.
    SequenceCaution:
    • Sequence=BAA23693.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SGSM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGSM2 Gene

Proteomics data for SGSM2 Gene at MOPED

Post-translational modifications for SGSM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SGSM2

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SGSM2 Gene

Graphical View of Domain Structure for InterPro Entry

O43147

UniProtKB/Swiss-Prot:

SGSM2_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
  • Belongs to the RUTBC family.
Domain:
  • 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

Gene Ontology (GO) - Molecular Function for SGSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IPI 21808068
genes like me logo Genes that share ontologies with SGSM2: view

Phenotypes for SGSM2 Gene

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

Animal Model Products

CRISPR Products

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

Localization for SGSM2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGSM2 Gene COMPARTMENTS Subcellular localization image for SGSM2 gene
Compartment Confidence
nucleus 3
plasma membrane 3
cytosol 2
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SGSM2 Gene

Pathways & Interactions for SGSM2 Gene

SuperPathways for SGSM2 Gene

No Data Available

Interacting Proteins for SGSM2 Gene

Gene Ontology (GO) - Biological Process for SGSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Drugs & Compounds for SGSM2 Gene

No Compound Related Data Available

Transcripts for SGSM2 Gene

Unigene Clusters for SGSM2 Gene

Small G protein signaling modulator 2:
Representative Sequences:

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 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



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

Protein tissue co-expression partners for SGSM2 Gene

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
cow
(Bos Taurus)
Mammalia SGSM2 35
  • 90.11 (n)
  • 92.84 (a)
SGSM2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGSM2 35
  • 89.67 (n)
  • 92.45 (a)
SRR 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgsm2 35
  • 88.35 (n)
  • 92.83 (a)
Sgsm2 16
Sgsm2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SGSM2 35
  • 99.43 (n)
  • 99.43 (a)
SGSM2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgsm2 35
  • 87.68 (n)
  • 92.63 (a)
oppossum
(Monodelphis domestica)
Mammalia SGSM2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGSM2 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGSM2 35
  • 73.53 (n)
  • 79.89 (a)
SGSM2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGSM2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsm2 35
  • 70.83 (n)
  • 77.29 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC799094 35
  • 70.6 (n)
  • 73.13 (a)
SGSM2 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1695 36
  • 42 (a)
OneToMany
CG32506 36
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 36
  • 17 (a)
OneToMany
Species with no ortholog for SGSM2:
  • 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
rs17853891 - 2,361,690(+) GCTTC(A/C)TGCGC nc-transcript-variant, reference, missense
rs745400 - 2,363,505(+) GGACA(A/C/G/T)GCTGG nc-transcript-variant, reference, missense
rs17853888 - 2,363,522(+) GTGCC(A/C/T)GCGAG nc-transcript-variant, reference, synonymous-codon, missense
rs17857178 - 2,364,649(+) CATCC(A/G)CTGCC nc-transcript-variant, reference, synonymous-codon, missense
rs2248821 - 2,365,017(+) GCCTC(A/G)GGGAC nc-transcript-variant, reference, synonymous-codon, missense

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

Variant ID Type Subtype PubMed ID
nsv833336 CNV Loss 17160897
nsv469765 CNV Complex 16826518
nsv907529 CNV Gain 21882294
nsv517489 CNV Loss 19592680
nsv907530 CNV Loss 21882294
dgv3036n71 CNV Loss 21882294
esv27399 CNV Gain+Loss 19812545
nsv820502 CNV Deletion 20802225
nsv512469 CNV Loss 21212237
esv2715501 CNV Deletion 23290073
esv1171750 CNV Deletion 17803354
nsv907532 CNV Loss 21882294
nsv470569 CNV Loss 18288195
nsv833338 CNV Loss 17160897
nsv907537 CNV Loss 21882294
nsv827858 CNV Gain 20364138

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

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. 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 67
  2. 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
  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. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  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

Products for SGSM2 Gene

Sources for SGSM2 Gene

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