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SNTB1 (syntrophin beta 1)

Identity

Alias_namesSNT2B1
syntrophin
Alias_symbol (synonym)59-DAP
A1B
BSYN2
TIP-43
SNT2
Other aliasDAPA1B
HGNC (Hugo) SNTB1
LocusID (NCBI) 6641
Atlas_Id 54649
Location 8q24.12  [Link to chromosome band 8q24]
Location_base_pair Starts at 120535745 and ends at 120812069 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KLHDC2 (14q21.3) / SNTB1 (8q24.12)NSMCE2 (8q24.13) / SNTB1 (8q24.12)SAMD12 (8q24.12) / SNTB1 (8q24.12)
SNTB1 (8q24.12) / COL22A1 (8q24.23)SNTB1 (8q24.12) / EFR3A (8q24.22)NSMCE2 8q24.13 / SNTB1 8q24.12
SAMD12 8q24.12 / SNTB1 8q24.12SNTB1 8q24.12 / COL22A1 8q24.23

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)SNTB1   11168
Cards
Entrez_Gene (NCBI)SNTB1  6641  syntrophin beta 1
Aliases59-DAP; A1B; BSYN2; DAPA1B; 
SNT2; SNT2B1; TIP-43
GeneCards (Weizmann)SNTB1
Ensembl hg19 (Hinxton)ENSG00000172164 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172164 [Gene_View]  chr8:120535745-120812069 [Contig_View]  SNTB1 [Vega]
ICGC DataPortalENSG00000172164
TCGA cBioPortalSNTB1
AceView (NCBI)SNTB1
Genatlas (Paris)SNTB1
WikiGenes6641
SOURCE (Princeton)SNTB1
Genetics Home Reference (NIH)SNTB1
Genomic and cartography
GoldenPath hg38 (UCSC)SNTB1  -     chr8:120535745-120812069 -  8q24.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNTB1  -     8q24.12   [Description]    (hg19-Feb_2009)
EnsemblSNTB1 - 8q24.12 [CytoView hg19]  SNTB1 - 8q24.12 [CytoView hg38]
Mapping of homologs : NCBISNTB1 [Mapview hg19]  SNTB1 [Mapview hg38]
OMIM600026   
Gene and transcription
Genbank (Entrez)AF028828 AK025100 AK026095 AK292655 BC023571
RefSeq transcript (Entrez)NM_021021
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNTB1
Cluster EST : UnigeneHs.46701 [ NCBI ]
CGAP (NCI)Hs.46701
Alternative Splicing GalleryENSG00000172164
Gene ExpressionSNTB1 [ NCBI-GEO ]   SNTB1 [ EBI - ARRAY_EXPRESS ]   SNTB1 [ SEEK ]   SNTB1 [ MEM ]
Gene Expression Viewer (FireBrowse)SNTB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6641
GTEX Portal (Tissue expression)SNTB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13884   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13884  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13884
Splice isoforms : SwissVarQ13884
PhosPhoSitePlusQ13884
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PDZ    PH_dom-like    PH_domain    Syntrophin   
Domain families : Pfam (Sanger)PDZ (PF00595)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam00595    pfam00169   
Domain families : Smart (EMBL)PDZ (SM00228)  PH (SM00233)  
Conserved Domain (NCBI)SNTB1
DMDM Disease mutations6641
Blocks (Seattle)SNTB1
SuperfamilyQ13884
Human Protein AtlasENSG00000172164
Peptide AtlasQ13884
HPRD02490
IPIIPI00026059   IPI00216858   IPI00985060   IPI01014730   
Protein Interaction databases
DIP (DOE-UCLA)Q13884
IntAct (EBI)Q13884
FunCoupENSG00000172164
BioGRIDSNTB1
STRING (EMBL)SNTB1
ZODIACSNTB1
Ontologies - Pathways
QuickGOQ13884
Ontology : AmiGOactin binding  structural molecule activity  protein binding  calmodulin binding  cytoplasm  cytoskeleton  focal adhesion  muscle contraction  dystrophin-associated glycoprotein complex  PDZ domain binding  sarcolemma  protein complex  synapse  
Ontology : EGO-EBIactin binding  structural molecule activity  protein binding  calmodulin binding  cytoplasm  cytoskeleton  focal adhesion  muscle contraction  dystrophin-associated glycoprotein complex  PDZ domain binding  sarcolemma  protein complex  synapse  
NDEx NetworkSNTB1
Atlas of Cancer Signalling NetworkSNTB1
Wikipedia pathwaysSNTB1
Orthology - Evolution
OrthoDB6641
GeneTree (enSembl)ENSG00000172164
Phylogenetic Trees/Animal Genes : TreeFamSNTB1
HOVERGENQ13884
HOGENOMQ13884
Homologs : HomoloGeneSNTB1
Homology/Alignments : Family Browser (UCSC)SNTB1
Gene fusions - Rearrangements
Fusion : MitelmanKLHDC2/SNTB1 [14q21.3/8q24.12]  [t(8;14)(q24;q21)]  
Fusion : MitelmanNSMCE2/SNTB1 [8q24.13/8q24.12]  [t(8;8)(q24;q24)]  
Fusion : MitelmanSAMD12/SNTB1 [8q24.12/8q24.12]  [t(8;8)(q24;q24)]  
Fusion : MitelmanSNTB1/COL22A1 [8q24.12/8q24.23]  [t(8;8)(q24;q24)]  
Fusion: TCGANSMCE2 8q24.13 SNTB1 8q24.12 BRCA
Fusion: TCGASAMD12 8q24.12 SNTB1 8q24.12 OV
Fusion: TCGASNTB1 8q24.12 COL22A1 8q24.23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNTB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNTB1
dbVarSNTB1
ClinVarSNTB1
1000_GenomesSNTB1 
Exome Variant ServerSNTB1
ExAC (Exome Aggregation Consortium)SNTB1 (select the gene name)
Genetic variants : HAPMAP6641
Genomic Variants (DGV)SNTB1 [DGVbeta]
DECIPHERSNTB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNTB1 
Mutations
ICGC Data PortalSNTB1 
TCGA Data PortalSNTB1 
Broad Tumor PortalSNTB1
OASIS PortalSNTB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNTB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNTB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SNTB1
DgiDB (Drug Gene Interaction Database)SNTB1
DoCM (Curated mutations)SNTB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNTB1 (select a term)
intoGenSNTB1
Cancer3DSNTB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600026   
Orphanet
MedgenSNTB1
Genetic Testing Registry SNTB1
NextProtQ13884 [Medical]
TSGene6641
GENETestsSNTB1
Target ValidationSNTB1
Huge Navigator SNTB1 [HugePedia]
snp3D : Map Gene to Disease6641
BioCentury BCIQSNTB1
ClinGenSNTB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6641
Chemical/Pharm GKB GenePA36008
Clinical trialSNTB1
Miscellaneous
canSAR (ICR)SNTB1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNTB1
EVEXSNTB1
GoPubMedSNTB1
iHOPSNTB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:56:46 CEST 2017

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