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SIM2 (SIM bHLH transcription factor 2)

Identity

Alias (NCBI)HMC13F06
HMC29C01
SIM
bHLHe15
HGNC (Hugo) SIM2
HGNC Alias symbMGC119447
bHLHe15
HGNC Alias nametranscription factor SIM2
HGNC Previous nameSIM
HGNC Previous namesingle-minded (Drosophila) homolog 2
 single-minded homolog 2 (Drosophila)
 single-minded family bHLH transcription factor 2
LocusID (NCBI) 6493
Atlas_Id 45754
Location 21q22.13  [Link to chromosome band 21q22]
Location_base_pair Starts at 36699115 and ends at 36746314 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    SIM bHLH transcription factor 2
AliasesHMC13F06; HMC29C01; SIM; bHLHe15
GeneCards (Weizmann)SIM2
Ensembl hg19 (Hinxton)ENSG00000159263 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159263 [Gene_View]  ENSG00000159263 [Sequence]  chr21:36699115-36746314 [Contig_View]  SIM2 [Vega]
ICGC DataPortalENSG00000159263
TCGA cBioPortalSIM2
AceView (NCBI)SIM2
Genatlas (Paris)SIM2
SOURCE (Princeton)SIM2
Genetics Home Reference (NIH)SIM2
Genomic and cartography
GoldenPath hg38 (UCSC)SIM2  -     chr21:36699115-36746314 +  21q22.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIM2  -     21q22.13   [Description]    (hg19-Feb_2009)
GoldenPathSIM2 - 21q22.13 [CytoView hg19]  SIM2 - 21q22.13 [CytoView hg38]
ImmunoBaseENSG00000159263
Genome Data Viewer NCBISIM2 [Mapview hg19]  
OMIM600892   
Gene and transcription
Genbank (Entrez)AI625864 AJ001858 AJ001859 BC052313 BC067104
RefSeq transcript (Entrez)NM_005069 NM_009586
Consensus coding sequences : CCDS (NCBI)SIM2
Gene ExpressionSIM2 [ NCBI-GEO ]   SIM2 [ EBI - ARRAY_EXPRESS ]   SIM2 [ SEEK ]   SIM2 [ MEM ]
Gene Expression Viewer (FireBrowse)SIM2 [ Firebrowse - Broad ]
GenevisibleExpression of SIM2 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
PhosPhoSitePlusQ14190
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)    SIM_C (PS51302)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf    PAC    PAS    PAS-like_dom_sf    PAS_fold    PAS_fold_3    SIM_C   
Domain families : Pfam (Sanger)PAS (PF00989)    PAS_3 (PF08447)    SIM_C (PF06621)   
Domain families : Pfam (NCBI)pfam00989    pfam08447    pfam06621   
Domain families : Smart (EMBL)HLH (SM00353)  PAC (SM00086)  PAS (SM00091)  
Conserved Domain (NCBI)SIM2
SuperfamilyQ14190
AlphaFold pdb e-kbQ14190   
Human Protein Atlas [tissue]ENSG00000159263-SIM2 [tissue]
HPRD02935
Protein Interaction databases
DIP (DOE-UCLA)Q14190
IntAct (EBI)Q14190
BioGRIDSIM2
STRING (EMBL)SIM2
ZODIACSIM2
Ontologies - Pathways
QuickGOQ14190
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  DNA-binding transcription factor activity  nucleoplasm  regulation of transcription by RNA polymerase II  nervous system development  embryonic pattern specification  nuclear body  cell differentiation  lung development  protein heterodimerization activity  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  DNA-binding transcription factor activity  nucleoplasm  regulation of transcription by RNA polymerase II  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
Homologs : HomoloGeneSIM2
Homology/Alignments : Family Browser (UCSC)SIM2
Gene fusions - Rearrangements
Fusion : MitelmanPTTG1IP/SIM2 [21q22.3/21q22.13]  
Fusion : MitelmanSIM2/KCNJ6 [21q22.13/21q22.13]  
Fusion : QuiverSIM2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIM2
dbVarSIM2
ClinVarSIM2
MonarchSIM2
1000_GenomesSIM2 
Exome Variant ServerSIM2
GNOMAD BrowserENSG00000159263
Varsome BrowserSIM2
ACMGSIM2 variants
VarityQ14190
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]  
Somatic Mutations in Cancer : COSMIC3DSIM2
Mutations and Diseases : HGMDSIM2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSIM2
DgiDB (Drug Gene Interaction Database)SIM2
DoCM (Curated mutations)SIM2
CIViC (Clinical Interpretations of Variants in Cancer)SIM2
Cancer3DSIM2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600892   
Orphanet
DisGeNETSIM2
MedgenSIM2
Genetic Testing Registry SIM2
NextProtQ14190 [Medical]
GENETestsSIM2
Target ValidationSIM2
Huge Navigator SIM2 [HugePedia]
ClinGenSIM2
Clinical trials, drugs, therapy
MyCancerGenomeSIM2
Protein Interactions : CTDSIM2
Pharm GKB GenePA35783
PharosQ14190
Clinical trialSIM2
Miscellaneous
canSAR (ICR)SIM2
HarmonizomeSIM2
DataMed IndexSIM2
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSIM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:31:12 CEST 2021

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