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SGSM2 (small G protein signaling modulator 2)

Identity

Alias_namesRUTBC1
RUN and TBC1 domain containing 1
Alias_symbol (synonym)KIAA0397
Other alias
HGNC (Hugo) SGSM2
LocusID (NCBI) 9905
Atlas_Id 56587
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 2240808 and ends at 2284348 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FAM193A (4p16.3) / SGSM2 (17p13.3)SGSM2 (17p13.3) / BTG2 (1q32.1)SGSM2 (17p13.3) / EPN2 (17p11.2)
SGSM2 (17p13.3) / GAD1 (2q31.1)SGSM2 (17p13.3) / PDCD6IP (3p22.3)UBA1 (Xp11.23) / SGSM2 (17p13.3)

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)SGSM2   29026
Cards
Entrez_Gene (NCBI)SGSM2  9905  small G protein signaling modulator 2
AliasesRUTBC1
GeneCards (Weizmann)SGSM2
Ensembl hg19 (Hinxton)ENSG00000141258 [Gene_View]  chr17:2240808-2284348 [Contig_View]  SGSM2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000141258 [Gene_View]  chr17:2240808-2284348 [Contig_View]  SGSM2 [Vega]
ICGC DataPortalENSG00000141258
TCGA cBioPortalSGSM2
AceView (NCBI)SGSM2
Genatlas (Paris)SGSM2
WikiGenes9905
SOURCE (Princeton)SGSM2
Genetics Home Reference (NIH)SGSM2
Genomic and cartography
GoldenPath hg19 (UCSC)SGSM2  -     chr17:2240808-2284348 +  17p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SGSM2  -     17p13.3   [Description]    (hg38-Dec_2013)
EnsemblSGSM2 - 17p13.3 [CytoView hg19]  SGSM2 - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBISGSM2 [Mapview hg19]  SGSM2 [Mapview hg38]
OMIM611418   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001098509 NM_014853
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SGSM2
Cluster EST : UnigeneHs.513861 [ NCBI ]
CGAP (NCI)Hs.513861
Alternative Splicing GalleryENSG00000141258
Gene ExpressionSGSM2 [ NCBI-GEO ]   SGSM2 [ EBI - ARRAY_EXPRESS ]   SGSM2 [ SEEK ]   SGSM2 [ MEM ]
Gene Expression Viewer (FireBrowse)SGSM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9905
GTEX Portal (Tissue expression)SGSM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43147   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43147  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43147
Splice isoforms : SwissVarO43147
PhosPhoSitePlusO43147
Domaine pattern : Prosite (Expaxy)RUN (PS50826)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Run_dom   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)    RUN (PF02759)   
Domain families : Pfam (NCBI)pfam00566    pfam02759   
Domain families : Smart (EMBL)RUN (SM00593)  TBC (SM00164)  
Conserved Domain (NCBI)SGSM2
DMDM Disease mutations9905
Blocks (Seattle)SGSM2
SuperfamilyO43147
Human Protein AtlasENSG00000141258
Peptide AtlasO43147
HPRD15284
IPIIPI00843959   IPI00293361   IPI00844274   IPI00915462   IPI00910503   
Protein Interaction databases
DIP (DOE-UCLA)O43147
IntAct (EBI)O43147
FunCoupENSG00000141258
BioGRIDSGSM2
STRING (EMBL)SGSM2
ZODIACSGSM2
Ontologies - Pathways
QuickGOO43147
Ontology : AmiGOGTPase activator activity  cytoplasm  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  late endosome to Golgi transport  melanosome  positive regulation of GTPase activity  activation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  cytoplasm  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  late endosome to Golgi transport  melanosome  positive regulation of GTPase activity  activation of GTPase activity  
NDEx NetworkSGSM2
Atlas of Cancer Signalling NetworkSGSM2
Wikipedia pathwaysSGSM2
Orthology - Evolution
OrthoDB9905
GeneTree (enSembl)ENSG00000141258
Phylogenetic Trees/Animal Genes : TreeFamSGSM2
HOVERGENO43147
HOGENOMO43147
Homologs : HomoloGeneSGSM2
Homology/Alignments : Family Browser (UCSC)SGSM2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGSM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGSM2
dbVarSGSM2
ClinVarSGSM2
1000_GenomesSGSM2 
Exome Variant ServerSGSM2
ExAC (Exome Aggregation Consortium)SGSM2 (select the gene name)
Genetic variants : HAPMAP9905
Genomic Variants (DGV)SGSM2 [DGVbeta]
DECIPHER (Syndromes)17:2240808-2284348  ENSG00000141258
CONAN: Copy Number AnalysisSGSM2 
Mutations
ICGC Data PortalSGSM2 
TCGA Data PortalSGSM2 
Broad Tumor PortalSGSM2
OASIS PortalSGSM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGSM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGSM2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SGSM2
DgiDB (Drug Gene Interaction Database)SGSM2
DoCM (Curated mutations)SGSM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGSM2 (select a term)
intoGenSGSM2
Cancer3DSGSM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611418   
Orphanet
MedgenSGSM2
Genetic Testing Registry SGSM2
NextProtO43147 [Medical]
TSGene9905
GENETestsSGSM2
Huge Navigator SGSM2 [HugePedia]
snp3D : Map Gene to Disease9905
BioCentury BCIQSGSM2
ClinGenSGSM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9905
Chemical/Pharm GKB GenePA162403141
Clinical trialSGSM2
Miscellaneous
canSAR (ICR)SGSM2 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGSM2
EVEXSGSM2
GoPubMedSGSM2
iHOPSGSM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:27:04 CET 2017

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