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Aliases for SGSM3 Gene

Aliases for SGSM3 Gene

  • Small G Protein Signaling Modulator 3 2 3 5
  • 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
  • CIP85 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. Among its related pathways are Ectoderm Differentiation. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is TBC1D9B.

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 , CIViC 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

Enhancers for SGSM3 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
GH22G040433 1.4 Ensembl ENCODE dbSUPER 13.4 +65.9 65932 6.0 FOXA2 TBL1XR1 WRNIP1 RAD21 TCF12 RELB IKZF2 CREM PAF1 ZNF654 MKL1 ENSG00000229999 SGSM3 LOC101927257 CHADL ENSG00000227413
GH22G040460 1.4 ENCODE dbSUPER 12.2 +92.7 92671 5.8 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 EP300 MKL1 ENSG00000272834 ENSG00000227413 ENSG00000229999 SGSM3 ENSG00000232754 LOC101927257
GH22G040507 1.5 Ensembl ENCODE dbSUPER 10.9 +140.4 140376 6.3 FOXA2 FEZF1 ZNF2 ZNF121 FOS DEK TSHZ1 SMARCA4 PBX2 GLIS1 MKL1 ENSG00000229999 SGSM3 LOC101927257 ENSG00000227413
GH22G040382 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.5 +15.5 15484 7.0 ELF3 PKNOX1 FOXA2 ZNF48 TCF12 SCRT2 RELB ETV6 IKZF2 CREM ENSG00000229999 ADSL MKL1 LOC101927257 SGSM3 GC22M041822
GH22G040477 1.2 Ensembl ENCODE dbSUPER 11.9 +108.5 108528 3.0 HDAC1 CTCF KLF1 CEBPG ZNF121 GATA3 ZNF316 GATA2 NR2F6 STAT1 MKL1 ENSG00000229999 SGSM3 LOC101927257 ADSL ENSG00000227413
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGSM3 on UCSC Golden Path with GeneCards custom track

Promoters for SGSM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146486 438 1601 ATF1 CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF48 ETS1

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

Genes around SGSM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGSM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SGSM3 Gene

  • Ubiquitination at Lys146 and isoforms=2542
  • Modification sites at PhosphoSitePlus

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 :
  • Belongs to the small G protein signaling modulator family.
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

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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 SGSM3 gene
Compartment Confidence
cytosol 5
nucleus 2
golgi apparatus 2
endosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SGSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 17562788
GO:0005921 gap junction IEA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with SGSM3: view

Pathways & Interactions for SGSM3 Gene

SuperPathways for SGSM3 Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with SGSM3: view

Pathways by source for SGSM3 Gene

1 BioSystems pathway for SGSM3 Gene

Gene Ontology (GO) - Biological Process for SGSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0032483 regulation of Rab protein signal transduction IEP 17509819
genes like me logo Genes that share ontologies with SGSM3: view

No data available for 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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SGSM3 Gene



NURSA nuclear receptor signaling pathways regulating expression of SGSM3 Gene:

SGSM3

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.

Evidence on tissue expression from TISSUES for SGSM3 Gene

  • Nervous system(4.9)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with SGSM3: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SGSM3 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia SGSM3 34 35
  • 89.71 (n)
dog
(Canis familiaris)
Mammalia SGSM3 34 35
  • 89.54 (n)
rat
(Rattus norvegicus)
Mammalia Sgsm3 34
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Sgsm3 34 16 35
  • 88.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SGSM3 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGSM3 34 35
  • 81.02 (n)
lizard
(Anolis carolinensis)
Reptilia SGSM3 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsm3 34
  • 75.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15019 34
zebrafish
(Danio rerio)
Actinopterygii sgsm3 34 35
  • 73.98 (n)
wufa11c02 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002120 34
  • 68.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12241 34 35
  • 65.72 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-18 34 35
  • 49.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2663 35
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4345 34
Species where no ortholog for SGSM3 was found in the sources mined by GeneCards:
  • 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

Variants for SGSM3 Gene

Sequence variations from dbSNP and Humsavar for SGSM3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000023417 -- 40,381,739(+) TCCTT(A/G)AGGCC intron-variant
rs1000183806 -- 40,370,381(+) TTAGC(A/C)AGTTA intron-variant, upstream-variant-2KB
rs1000297489 -- 40,388,445(+) AAAGT(G/T)CATTG intron-variant, nc-transcript-variant
rs1000327904 -- 40,394,818(+) TTTCC(C/T)GAGAG intron-variant
rs1000399379 -- 40,369,948(+) GGTTA(A/G)GAGTC intron-variant, downstream-variant-500B, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv22054 CNV loss 19812545
esv2678968 CNV deletion 23128226
esv2724264 CNV deletion 23290073
esv3558176 CNV deletion 23714750
esv3568408 CNV loss 25503493
esv3647775 CNV loss 21293372
nsv1071793 CNV deletion 25765185
nsv829232 CNV loss 20364138
nsv829233 CNV loss 20364138
nsv834202 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
SGSM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for SGSM3 Gene.

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

Publications for SGSM3 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 64
  2. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PMID: 19570815) Estrada K. … Kayser M. (Hum. Mol. Genet. 2009) 3 46 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  4. MAP, a protein interacting with a tumor suppressor, merlin, through the run domain. (PMID: 15541357) Lee I.K. … Rha H.K. (Biochem. Biophys. Res. Commun. 2004) 3 4 64
  5. Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A. … Ohara O. (DNA Res. 2000) 2 3 64

Products for SGSM3 Gene

Sources for SGSM3 Gene

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