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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. Gene Ontology (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.

Additional gene information for SGSM3 Gene

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

GeneHancer (GH) Regulatory Elements for SGSM3 Gene

Promoters and enhancers for SGSM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I040369 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 558.9 +0.3 349 1.9 ATF1 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF48 ETS1 ZNF121 POLR2B SGSM3 ADSL GC22M042673 ENSG00000284431
GH22I040371 Enhancer 0.4 ENCODE dbSUPER 550.8 +1.4 1435 0.1 SGSM3 GC22M042673 ADSL ENSG00000284431
GH22I039518 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -846.2 -846179 12.3 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 ATF4 ENSG00000272834 ENSG00000230912 RPL3 TAB1 CBY1 SNORD83B ENSG00000228274 CBX6 CBX7
GH22I040460 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 12.2 +92.7 92671 5.8 HDGF CTCF BCOR ZNF384 E4F1 ZNF121 ZNF766 POLR2A EGR1 ADNP MKL1 ENSG00000229999 SGSM3 ENSG00000227413 LOC101927257
GH22I040531 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 11.3 +163.2 163194 4.6 PKNOX1 INSM2 MZF1 FEZF1 BATF ZNF2 IRF4 ZNF121 ZNF213 ZNF366 MKL1 ENSG00000229999 SGSM3 LOC100506544 LOC101927257 LOC105373037
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SGSM3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SGSM3 gene promoter:

Genomic Locations for SGSM3 Gene

Genomic Locations for SGSM3 Gene
chr22:40,370,562-40,410,289
(GRCh38/hg38)
Size:
39,728 bases
Orientation:
Plus strand
chr22:40,766,595-40,806,293
(GRCh37/hg19)

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 isoforms=2146 and posLast=542542

No data available for DME Specific Peptides for SGSM3 Gene

Domains & Families for SGSM3 Gene

Gene Families for SGSM3 Gene

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

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.

Phenotypes From GWAS Catalog for SGSM3 Gene

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

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

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 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia SGSM3 33 34
  • 89.71 (n)
dog
(Canis familiaris)
Mammalia SGSM3 33 34
  • 89.54 (n)
rat
(Rattus norvegicus)
Mammalia Sgsm3 33
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Sgsm3 33 16 34
  • 88.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SGSM3 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGSM3 33 34
  • 81.02 (n)
lizard
(Anolis carolinensis)
Reptilia SGSM3 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsm3 33
  • 75.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15019 33
zebrafish
(Danio rerio)
Actinopterygii sgsm3 33 34
  • 73.98 (n)
wufa11c02 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002120 33
  • 68.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12241 34 33
  • 65.72 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbc-18 33 34
  • 49.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2663 34
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4345 33
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 Variation AA Info Type
rs1000023417 -- 40,381,739(+) G/A intron_variant
rs1000183806 -- 40,370,381(+) A/C upstream_transcript_variant
rs1000297489 -- 40,388,445(+) G/T intron_variant
rs1000327904 -- 40,394,818(+) T/C intron_variant
rs1000399379 -- 40,369,948(+) G/A upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 58
  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 (Human molecular genetics 2009) 3 44 58
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  4. MAP, a protein interacting with a tumor suppressor, merlin, through the run domain. (PMID: 15541357) Lee IK … Rha HK (Biochemical and biophysical research communications 2004) 3 4 58
  5. Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 58

Products for SGSM3 Gene

Sources for SGSM3 Gene

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