Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SGSM1 (small G protein signaling modulator 1)

Identity

Alias_namesRUTBC2
RUN and TBC1 domain containing 2
Alias_symbol (synonym)KIAA1941
Other alias
HGNC (Hugo) SGSM1
LocusID (NCBI) 129049
Atlas_Id 56193
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 25202188 and ends at 25322813 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DGCR8 (22q11.21) / SGSM1 (22q11.23)SPARCL1 (4q22.1) / SGSM1 (22q11.23)

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)SGSM1   29410
Cards
Entrez_Gene (NCBI)SGSM1  129049  small G protein signaling modulator 1
AliasesRUTBC2
GeneCards (Weizmann)SGSM1
Ensembl hg19 (Hinxton)ENSG00000167037 [Gene_View]  chr22:25202188-25322813 [Contig_View]  SGSM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167037 [Gene_View]  chr22:25202188-25322813 [Contig_View]  SGSM1 [Vega]
ICGC DataPortalENSG00000167037
TCGA cBioPortalSGSM1
AceView (NCBI)SGSM1
Genatlas (Paris)SGSM1
WikiGenes129049
SOURCE (Princeton)SGSM1
Genetics Home Reference (NIH)SGSM1
Genomic and cartography
GoldenPath hg19 (UCSC)SGSM1  -     chr22:25202188-25322813 +  22q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SGSM1  -     22q11.23   [Description]    (hg38-Dec_2013)
EnsemblSGSM1 - 22q11.23 [CytoView hg19]  SGSM1 - 22q11.23 [CytoView hg38]
Mapping of homologs : NCBISGSM1 [Mapview hg19]  SGSM1 [Mapview hg38]
OMIM611417   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001039948 NM_001098497 NM_001098498 NM_133454
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SGSM1
Cluster EST : UnigeneHs.620906 [ NCBI ]
CGAP (NCI)Hs.620906
Alternative Splicing GalleryENSG00000167037
Gene ExpressionSGSM1 [ NCBI-GEO ]   SGSM1 [ EBI - ARRAY_EXPRESS ]   SGSM1 [ SEEK ]   SGSM1 [ MEM ]
Gene Expression Viewer (FireBrowse)SGSM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)129049
GTEX Portal (Tissue expression)SGSM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2NKQ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2NKQ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2NKQ1
Splice isoforms : SwissVarQ2NKQ1
PhosPhoSitePlusQ2NKQ1
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)SGSM1
DMDM Disease mutations129049
Blocks (Seattle)SGSM1
SuperfamilyQ2NKQ1
Human Protein AtlasENSG00000167037
Peptide AtlasQ2NKQ1
IPIIPI00747077   IPI00843849   IPI00900337   IPI00847746   
Protein Interaction databases
DIP (DOE-UCLA)Q2NKQ1
IntAct (EBI)Q2NKQ1
FunCoupENSG00000167037
BioGRIDSGSM1
STRING (EMBL)SGSM1
ZODIACSGSM1
Ontologies - Pathways
QuickGOQ2NKQ1
Ontology : AmiGOGTPase activator activity  GTPase activator activity  intracellular  cytoplasm  Golgi apparatus  cytosol  intracellular protein transport  endomembrane system  Rab GTPase binding  Rab GTPase binding  cytoplasmic vesicle membrane  cytoplasmic vesicle membrane  regulation of vesicle fusion  activation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  intracellular  cytoplasm  Golgi apparatus  cytosol  intracellular protein transport  endomembrane system  Rab GTPase binding  Rab GTPase binding  cytoplasmic vesicle membrane  cytoplasmic vesicle membrane  regulation of vesicle fusion  activation of GTPase activity  
NDEx NetworkSGSM1
Atlas of Cancer Signalling NetworkSGSM1
Wikipedia pathwaysSGSM1
Orthology - Evolution
OrthoDB129049
GeneTree (enSembl)ENSG00000167037
Phylogenetic Trees/Animal Genes : TreeFamSGSM1
HOVERGENQ2NKQ1
HOGENOMQ2NKQ1
Homologs : HomoloGeneSGSM1
Homology/Alignments : Family Browser (UCSC)SGSM1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGSM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGSM1
dbVarSGSM1
ClinVarSGSM1
1000_GenomesSGSM1 
Exome Variant ServerSGSM1
ExAC (Exome Aggregation Consortium)SGSM1 (select the gene name)
Genetic variants : HAPMAP129049
Genomic Variants (DGV)SGSM1 [DGVbeta]
DECIPHER (Syndromes)22:25202188-25322813  ENSG00000167037
CONAN: Copy Number AnalysisSGSM1 
Mutations
ICGC Data PortalSGSM1 
TCGA Data PortalSGSM1 
Broad Tumor PortalSGSM1
OASIS PortalSGSM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGSM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGSM1
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 SGSM1
DgiDB (Drug Gene Interaction Database)SGSM1
DoCM (Curated mutations)SGSM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGSM1 (select a term)
intoGenSGSM1
Cancer3DSGSM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611417   
Orphanet
MedgenSGSM1
Genetic Testing Registry SGSM1
NextProtQ2NKQ1 [Medical]
TSGene129049
GENETestsSGSM1
Huge Navigator SGSM1 [HugePedia]
snp3D : Map Gene to Disease129049
BioCentury BCIQSGSM1
ClinGenSGSM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD129049
Chemical/Pharm GKB GenePA162403086
Clinical trialSGSM1
Miscellaneous
canSAR (ICR)SGSM1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGSM1
EVEXSGSM1
GoPubMedSGSM1
iHOPSGSM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:19:07 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.