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SIM2 (single-minded family bHLH transcription factor 2)

Identity

Alias_namesSIM
single-minded (Drosophila) homolog 2
single-minded homolog 2 (Drosophila)
Alias_symbol (synonym)MGC119447
bHLHe15
Other aliasHMC13F06
HMC29C01
HGNC (Hugo) SIM2
LocusID (NCBI) 6493
Atlas_Id 45754
Location 21q22.13  [Link to chromosome band 21q22]
Location_base_pair Starts at 36699121 and ends at 36749917 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PTTG1IP (21q22.3) / SIM2 (21q22.13)SIM2 (21q22.13) / KCNJ6 (21q22.13)SIM2 (21q22.13) / RIPPLY3 (21q22.13)
PTTG1IP 21q22.3 / SIM2 21q22.13SIM2 21q22.13 / KCNJ6 21q22.13

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)SIM2   10883
Cards
Entrez_Gene (NCBI)SIM2  6493  single-minded family bHLH transcription factor 2
AliasesHMC13F06; HMC29C01; SIM; bHLHe15
GeneCards (Weizmann)SIM2
Ensembl hg19 (Hinxton)ENSG00000159263 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159263 [Gene_View]  chr21:36699121-36749917 [Contig_View]  SIM2 [Vega]
ICGC DataPortalENSG00000159263
TCGA cBioPortalSIM2
AceView (NCBI)SIM2
Genatlas (Paris)SIM2
WikiGenes6493
SOURCE (Princeton)SIM2
Genetics Home Reference (NIH)SIM2
Genomic and cartography
GoldenPath hg38 (UCSC)SIM2  -     chr21:36699121-36749917 +  21q22.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIM2  -     21q22.13   [Description]    (hg19-Feb_2009)
EnsemblSIM2 - 21q22.13 [CytoView hg19]  SIM2 - 21q22.13 [CytoView hg38]
Mapping of homologs : NCBISIM2 [Mapview hg19]  SIM2 [Mapview hg38]
OMIM600892   
Gene and transcription
Genbank (Entrez)AI625864 AJ001858 AJ001859 BC052313 BC067104
RefSeq transcript (Entrez)NM_005069 NM_009586
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SIM2
Cluster EST : UnigeneHs.146186 [ NCBI ]
CGAP (NCI)Hs.146186
Alternative Splicing GalleryENSG00000159263
Gene ExpressionSIM2 [ NCBI-GEO ]   SIM2 [ EBI - ARRAY_EXPRESS ]   SIM2 [ SEEK ]   SIM2 [ MEM ]
Gene Expression Viewer (FireBrowse)SIM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6493
GTEX Portal (Tissue expression)SIM2
Human Protein AtlasENSG00000159263-SIM2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14190   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14190  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14190
Splice isoforms : SwissVarQ14190
PhosPhoSitePlusQ14190
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)    SIM_C (PS51302)   
Domains : Interpro (EBI)bHLH_dom    PAC    PAS    PAS_fold    PAS_fold_3    SIM_C   
Domain families : Pfam (Sanger)HLH (PF00010)    PAS (PF00989)    PAS_3 (PF08447)    SIM_C (PF06621)   
Domain families : Pfam (NCBI)pfam00010    pfam00989    pfam08447    pfam06621   
Domain families : Smart (EMBL)HLH (SM00353)  PAC (SM00086)  PAS (SM00091)  
Conserved Domain (NCBI)SIM2
DMDM Disease mutations6493
Blocks (Seattle)SIM2
SuperfamilyQ14190
Human Protein Atlas [tissue]ENSG00000159263-SIM2 [tissue]
Peptide AtlasQ14190
HPRD02935
IPIIPI00029105   IPI00220895   IPI00917800   
Protein Interaction databases
DIP (DOE-UCLA)Q14190
IntAct (EBI)Q14190
FunCoupENSG00000159263
BioGRIDSIM2
STRING (EMBL)SIM2
ZODIACSIM2
Ontologies - Pathways
QuickGOQ14190
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  nucleoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  embryonic pattern specification  nuclear body  cell differentiation  lung development  protein heterodimerization activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  nucleoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  embryonic pattern specification  nuclear body  cell differentiation  lung development  protein heterodimerization activity  
NDEx NetworkSIM2
Atlas of Cancer Signalling NetworkSIM2
Wikipedia pathwaysSIM2
Orthology - Evolution
OrthoDB6493
GeneTree (enSembl)ENSG00000159263
Phylogenetic Trees/Animal Genes : TreeFamSIM2
HOVERGENQ14190
HOGENOMQ14190
Homologs : HomoloGeneSIM2
Homology/Alignments : Family Browser (UCSC)SIM2
Gene fusions - Rearrangements
Fusion : MitelmanPTTG1IP/SIM2 [21q22.3/21q22.13]  [t(21;21)(q22;q22)]  
Fusion : MitelmanSIM2/KCNJ6 [21q22.13/21q22.13]  [t(21;21)(q22;q22)]  
Fusion: TCGA_MDACCPTTG1IP 21q22.3 SIM2 21q22.13 BRCA
Fusion: TCGA_MDACCSIM2 21q22.13 KCNJ6 21q22.13 LGG
Tumor Fusion PortalSIM2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIM2
dbVarSIM2
ClinVarSIM2
1000_GenomesSIM2 
Exome Variant ServerSIM2
ExAC (Exome Aggregation Consortium)ENSG00000159263
GNOMAD BrowserENSG00000159263
Genetic variants : HAPMAP6493
Genomic Variants (DGV)SIM2 [DGVbeta]
DECIPHERSIM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSIM2 
Mutations
ICGC Data PortalSIM2 
TCGA Data PortalSIM2 
Broad Tumor PortalSIM2
OASIS PortalSIM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSIM2
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 SIM2
DgiDB (Drug Gene Interaction Database)SIM2
DoCM (Curated mutations)SIM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIM2 (select a term)
intoGenSIM2
Cancer3DSIM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600892   
Orphanet
DisGeNETSIM2
MedgenSIM2
Genetic Testing Registry SIM2
NextProtQ14190 [Medical]
TSGene6493
GENETestsSIM2
Target ValidationSIM2
Huge Navigator SIM2 [HugePedia]
snp3D : Map Gene to Disease6493
BioCentury BCIQSIM2
ClinGenSIM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6493
Chemical/Pharm GKB GenePA35783
Clinical trialSIM2
Miscellaneous
canSAR (ICR)SIM2 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIM2
EVEXSIM2
GoPubMedSIM2
iHOPSIM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:58:42 CET 2017

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