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SGSM3 (small G protein signaling modulator 3)

Identity

Alias_namesRUTBC3
RUN and TBC1 domain containing 3
Alias_symbol (synonym)DJ1042K10.2
RUSC3
RabGAP-5
RABGAP5
Other aliasMAP
rabGAPLP
HGNC (Hugo) SGSM3
LocusID (NCBI) 27352
Atlas_Id 53858
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 40766566 and ends at 40806293 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADSL (22q13.1) / SGSM3 (22q13.1)AP1B1 (22q12.2) / SGSM3 (22q13.1)EIF5A (17p13.1) / SGSM3 (22q13.1)
MBNL1 (3q25.1) / SGSM3 (22q13.1)SGSM3 (22q13.1) / TNRC6B (22q13.1)TRIM2 (4q31.3) / SGSM3 (22q13.1)
AP1B1 22q12.2 / SGSM3 22q13.1MBNL1 3q25.1 / SGSM3 22q13.1SGSM3 22q13.1 / TNRC6B 22q13.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SGSM3   25228
Cards
Entrez_Gene (NCBI)SGSM3  27352  small G protein signaling modulator 3
AliasesMAP; RABGAP5; RUSC3; RUTBC3; 
RabGAP-5; rabGAPLP
GeneCards (Weizmann)SGSM3
Ensembl hg19 (Hinxton)ENSG00000100359 [Gene_View]  chr22:40766566-40806293 [Contig_View]  SGSM3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100359 [Gene_View]  chr22:40766566-40806293 [Contig_View]  SGSM3 [Vega]
ICGC DataPortalENSG00000100359
TCGA cBioPortalSGSM3
AceView (NCBI)SGSM3
Genatlas (Paris)SGSM3
WikiGenes27352
SOURCE (Princeton)SGSM3
Genetics Home Reference (NIH)SGSM3
Genomic and cartography
GoldenPath hg19 (UCSC)SGSM3  -     chr22:40766566-40806293 +  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SGSM3  -     22q13.1   [Description]    (hg38-Dec_2013)
EnsemblSGSM3 - 22q13.1 [CytoView hg19]  SGSM3 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBISGSM3 [Mapview hg19]  SGSM3 [Mapview hg38]
OMIM610440   
Gene and transcription
Genbank (Entrez)AB196956 AB275763 AB449880 AK000006 AK295469
RefSeq transcript (Entrez)NM_001301849 NM_015705
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)SGSM3
Cluster EST : UnigeneHs.474914 [ NCBI ]
CGAP (NCI)Hs.474914
Alternative Splicing GalleryENSG00000100359
Gene ExpressionSGSM3 [ NCBI-GEO ]   SGSM3 [ EBI - ARRAY_EXPRESS ]   SGSM3 [ SEEK ]   SGSM3 [ MEM ]
Gene Expression Viewer (FireBrowse)SGSM3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27352
GTEX Portal (Tissue expression)SGSM3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96HU1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96HU1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96HU1
Splice isoforms : SwissVarQ96HU1
PhosPhoSitePlusQ96HU1
Domaine pattern : Prosite (Expaxy)RUN (PS50826)    SH3 (PS50002)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Run_dom    SH3_domain   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)    RUN (PF02759)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00566    pfam02759    pfam00018   
Domain families : Smart (EMBL)RUN (SM00593)  SH3 (SM00326)  TBC (SM00164)  
Conserved Domain (NCBI)SGSM3
DMDM Disease mutations27352
Blocks (Seattle)SGSM3
SuperfamilyQ96HU1
Human Protein AtlasENSG00000100359
Peptide AtlasQ96HU1
HPRD15285
IPIIPI00236852   IPI00376350   IPI00879342   IPI00396282   IPI00878518   IPI00879149   
Protein Interaction databases
DIP (DOE-UCLA)Q96HU1
IntAct (EBI)Q96HU1
FunCoupENSG00000100359
BioGRIDSGSM3
STRING (EMBL)SGSM3
ZODIACSGSM3
Ontologies - Pathways
QuickGOQ96HU1
Ontology : AmiGOGTPase activator activity  protein binding  cytosol  intracellular protein transport  cell cycle arrest  endomembrane system  Rab GTPase binding  Rab GTPase binding  regulation of vesicle fusion  regulation of Rab protein signal transduction  Rap protein signal transduction  plasma membrane to endosome transport  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  cytosol  intracellular protein transport  cell cycle arrest  endomembrane system  Rab GTPase binding  Rab GTPase binding  regulation of vesicle fusion  regulation of Rab protein signal transduction  Rap protein signal transduction  plasma membrane to endosome transport  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkSGSM3
Atlas of Cancer Signalling NetworkSGSM3
Wikipedia pathwaysSGSM3
Orthology - Evolution
OrthoDB27352
GeneTree (enSembl)ENSG00000100359
Phylogenetic Trees/Animal Genes : TreeFamSGSM3
HOVERGENQ96HU1
HOGENOMQ96HU1
Homologs : HomoloGeneSGSM3
Homology/Alignments : Family Browser (UCSC)SGSM3
Gene fusions - Rearrangements
Fusion : MitelmanAP1B1/SGSM3 [22q12.2/22q13.1]  [t(22;22)(q12;q13)]  
Fusion : MitelmanMBNL1/SGSM3 [3q25.1/22q13.1]  [t(3;22)(q25;q13)]  
Fusion : MitelmanSGSM3/TNRC6B [22q13.1/22q13.1]  [t(22;22)(q13;q13)]  
Fusion: TCGAAP1B1 22q12.2 SGSM3 22q13.1 GBM
Fusion: TCGAMBNL1 3q25.1 SGSM3 22q13.1 LUAD
Fusion: TCGASGSM3 22q13.1 TNRC6B 22q13.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGSM3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGSM3
dbVarSGSM3
ClinVarSGSM3
1000_GenomesSGSM3 
Exome Variant ServerSGSM3
ExAC (Exome Aggregation Consortium)SGSM3 (select the gene name)
Genetic variants : HAPMAP27352
Genomic Variants (DGV)SGSM3 [DGVbeta]
DECIPHER (Syndromes)22:40766566-40806293  ENSG00000100359
CONAN: Copy Number AnalysisSGSM3 
Mutations
ICGC Data PortalSGSM3 
TCGA Data PortalSGSM3 
Broad Tumor PortalSGSM3
OASIS PortalSGSM3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGSM3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGSM3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SGSM3
DgiDB (Drug Gene Interaction Database)SGSM3
DoCM (Curated mutations)SGSM3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGSM3 (select a term)
intoGenSGSM3
Cancer3DSGSM3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610440   
Orphanet
MedgenSGSM3
Genetic Testing Registry SGSM3
NextProtQ96HU1 [Medical]
TSGene27352
GENETestsSGSM3
Huge Navigator SGSM3 [HugePedia]
snp3D : Map Gene to Disease27352
BioCentury BCIQSGSM3
ClinGenSGSM3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27352
Chemical/Pharm GKB GenePA162403194
Clinical trialSGSM3
Miscellaneous
canSAR (ICR)SGSM3 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGSM3
EVEXSGSM3
GoPubMedSGSM3
iHOPSGSM3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:19:08 CEST 2017

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