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Aliases for SGSM3 Gene

Aliases for SGSM3 Gene

  • Small G Protein Signaling Modulator 3 2 3
  • Rab-GTPase-Activating Protein-Like Protein 3 4
  • RUN And TBC1 Domain-Containing Protein 3 3 4
  • RUN And TBC1 Domain Containing 3 2 3
  • Merlin-Associated Protein 3 4
  • RUN And SH3 Containing 3 2 3
  • RabGAPLP 3 4
  • RUTBC3 3 4
  • MAP 3 4
  • Small G Protein Signaling Modulator 3 Protein 3
  • Merlin Binding Protein 3
  • RabGAP-5 3
  • RABGAP5 3
  • RUSC3 3

External Ids for SGSM3 Gene

Previous HGNC Symbols for SGSM3 Gene

  • RUTBC3

Previous GeneCards Identifiers for SGSM3 Gene

  • GC22P039096
  • GC22P040766
  • GC22P023729

Summaries for SGSM3 Gene

GeneCards Summary for SGSM3 Gene

SGSM3 (Small G Protein Signaling Modulator 3) 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 TBC1D30.

UniProtKB/Swiss-Prot for SGSM3 Gene

  • May play a cooperative role in NF2-mediated growth suppression of cells.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGSM3 Gene

Genomics for SGSM3 Gene

Regulatory Elements for SGSM3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SGSM3 Gene

Chromosome:
22
Start:
40,370,562 bp from pter
End:
40,410,289 bp from pter
Size:
39,728 bases
Orientation:
Plus strand

Genomic View for SGSM3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SGSM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGSM3 Gene

Proteins for SGSM3 Gene

  • Protein details for SGSM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HU1-SGSM3_HUMAN
    Recommended name:
    Small G protein signaling modulator 3
    Protein Accession:
    Q96HU1
    Secondary Accessions:
    • B0QY79
    • Q7Z709
    • Q9NT69

    Protein attributes for SGSM3 Gene

    Size:
    749 amino acids
    Molecular mass:
    85354 Da
    Quaternary structure:
    • Interacts with GJA1. Interaction with GJA1 induces its degradation (By similarity). Interacts via its RUN domain with the C-terminal region of NF2. Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A, RAP2B and PDCD6IP. No interaction with RAB27A.

    Alternative splice isoforms for SGSM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGSM3 Gene

Proteomics data for SGSM3 Gene at MOPED

Post-translational modifications for SGSM3 Gene

  • Ubiquitination at Lys 146 and Lys 542
  • Modification sites at PhosphoSitePlus

Other Protein References for SGSM3 Gene

Antibody Products

No data available for DME Specific Peptides for SGSM3 Gene

Domains & Families for SGSM3 Gene

Gene Families for SGSM3 Gene

Protein Domains for SGSM3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96HU1

UniProtKB/Swiss-Prot:

SGSM3_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
  • Belongs to the small G protein signaling modulator family.
Domain:
  • Contains 1 Rab-GAP TBC domain.
  • Contains 1 RUN domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the small G protein signaling modulator family.
genes like me logo Genes that share domains with SGSM3: view

Function for SGSM3 Gene

Molecular function for SGSM3 Gene

UniProtKB/Swiss-Prot Function:
May play a cooperative role in NF2-mediated growth suppression of cells.

Gene Ontology (GO) - Molecular Function for SGSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17562788
GO:0005515 protein binding IPI 17509819
GO:0017137 Rab GTPase binding IPI 17562788
genes like me logo Genes that share ontologies with SGSM3: view

Phenotypes for SGSM3 Gene

GenomeRNAi human phenotypes for SGSM3:
genes like me logo Genes that share phenotypes with SGSM3: view

Animal Model Products

CRISPR Products

miRNA for SGSM3 Gene

miRTarBase miRNAs that target SGSM3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SGSM3 Gene

Localization for SGSM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGSM3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGSM3 Gene COMPARTMENTS Subcellular localization image for SGSM3 gene
Compartment Confidence
cytosol 5
endosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for SGSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 17562788
genes like me logo Genes that share ontologies with SGSM3: view

Pathways & Interactions for SGSM3 Gene

SuperPathways for SGSM3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SGSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007050 cell cycle arrest IEA --
GO:0032483 regulation of Rab protein signal transduction IEP 17509819
GO:0032486 Rap protein signal transduction IEP 17509819
GO:0043547 positive regulation of GTPase activity IDA 17562788
GO:0048227 plasma membrane to endosome transport IMP 17562788
genes like me logo Genes that share ontologies with SGSM3: view

No data available for Pathways by source and SIGNOR curated interactions for SGSM3 Gene

Drugs & Compounds for SGSM3 Gene

No Compound Related Data Available

Transcripts for SGSM3 Gene

Unigene Clusters for SGSM3 Gene

Small G protein signaling modulator 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGSM3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SGSM3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - -
SP2:
SP3: - -
SP4: -
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:

ExUns: 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c · 24d · 24e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:

Relevant External Links for SGSM3 Gene

GeneLoc Exon Structure for
SGSM3
ECgene alternative splicing isoforms for
SGSM3

Expression for SGSM3 Gene

mRNA expression in normal human tissues for SGSM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SGSM3 Gene

This gene is overexpressed in Stomach (31.2), Heart (15.7), and Salivary gland (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SGSM3 Gene



SOURCE GeneReport for Unigene cluster for SGSM3 Gene Hs.474914

mRNA Expression by UniProt/SwissProt for SGSM3 Gene

Q96HU1-SGSM3_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with SGSM3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for SGSM3 Gene

Orthologs for SGSM3 Gene

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

Orthologs for SGSM3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SGSM3 35
  • 89.71 (n)
  • 91.28 (a)
SGSM3 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGSM3 35
  • 89.54 (n)
  • 92.66 (a)
SGSM3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgsm3 35
  • 88.59 (n)
  • 94.12 (a)
Sgsm3 16
Sgsm3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SGSM3 35
  • 99.38 (n)
  • 99.43 (a)
SGSM3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgsm3 35
  • 88.89 (n)
  • 93.71 (a)
oppossum
(Monodelphis domestica)
Mammalia SGSM3 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves SGSM3 35
  • 81.02 (n)
  • 88.08 (a)
SGSM3 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGSM3 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsm3 35
  • 75.03 (n)
  • 84.51 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15019 35
zebrafish
(Danio rerio)
Actinopterygii sgsm3 35
  • 73.98 (n)
  • 79.14 (a)
wufa11c02 35
sgsm3 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002120 35
  • 68.37 (n)
  • 68.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12241 35
  • 65.72 (n)
  • 66.26 (a)
CG12241 36
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbc-18 35
  • 49.63 (n)
  • 46.01 (a)
tbc-18 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4345 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2663 36
  • 59 (a)
OneToOne
Species with no ortholog for SGSM3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)

Evolution for SGSM3 Gene

ENSEMBL:
Gene Tree for SGSM3 (if available)
TreeFam:
Gene Tree for SGSM3 (if available)

Paralogs for SGSM3 Gene

Paralogs for SGSM3 Gene

genes like me logo Genes that share paralogs with SGSM3: view

Variants for SGSM3 Gene

Sequence variations from dbSNP and Humsavar for SGSM3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs760700 -- 40,404,067(+) GGGGT(A/G)CATGT intron-variant
rs760701 -- 40,404,514(+) CAGGT(A/G)TCACG intron-variant
rs2018393 -- 40,407,182(+) ACCAT(G/T)GTTCT intron-variant
rs2235318 -- 40,404,540(+) CCTTG(A/C/T)GGCTC intron-variant
rs2294349 -- 40,388,007(+) CACAG(A/T)CACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SGSM3 Gene

Variant ID Type Subtype PubMed ID
nsv834202 CNV Loss 17160897
nsv829232 CNV Loss 20364138
esv22054 CNV Loss 19812545
esv2724264 CNV Deletion 23290073
esv2678968 CNV Deletion 23128226
dgv4977n71 CNV Gain 21882294
nsv829233 CNV Loss 20364138

Variation tolerance for SGSM3 Gene

Residual Variation Intolerance Score: 3.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGSM3 Gene

HapMap Linkage Disequilibrium report
SGSM3
Human Gene Mutation Database (HGMD)
SGSM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGSM3 Gene

Disorders for SGSM3 Gene

Relevant External Links for SGSM3

Genetic Association Database (GAD)
SGSM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGSM3
genes like me logo Genes that share disorders with SGSM3: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SGSM3 Gene

Publications for SGSM3 Gene

  1. The merlin interacting proteins reveal multiple targets for NF2 therapy. (PMID: 17980164) Scoles D.R. (Biochim. Biophys. Acta 2008) 23 67
  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 67
  3. The merlin tumor suppressor interacts with Ral guanine nucleotide dissociation stimulator and inhibits its activity. (PMID: 16007223) Ryu C.H. … Rha H.K. (Oncogene 2005) 23 67
  4. Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A. … Ohara O. (DNA Res. 2000) 2 67
  5. Fluoroaluminate induces pertussis toxin-sensitive protein phosphorylation: differences in MC3T3-E1 osteoblastic and NIH3T3 fibroblastic cells. (PMID: 9207219) Susa M. … Rohner D. (Biochem. Biophys. Res. Commun. 1997) 23 67

Products for SGSM3 Gene

Sources for SGSM3 Gene

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