Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPTBN2 (spectrin beta, non-erythrocytic 2)

Identity

Alias_namesSCA5
spinocerebellar ataxia 5
Other aliasGTRAP41
SCAR14
HGNC (Hugo) SPTBN2
LocusID (NCBI) 6712
Atlas_Id 55829
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66685249 and ends at 66721399 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)
KCTD5 (16p13.3) / SPTBN2 (11q13.2)PPP6R3 (11q13.2) / SPTBN2 (11q13.2)SPTBN2 (11q13.2) / FGF19 (11q13.3)
SPTBN2 (11q13.2) / KCTD5 (16p13.3)

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)SPTBN2   11276
Cards
Entrez_Gene (NCBI)SPTBN2  6712  spectrin beta, non-erythrocytic 2
AliasesGTRAP41; SCA5; SCAR14
GeneCards (Weizmann)SPTBN2
Ensembl hg19 (Hinxton)ENSG00000173898 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173898 [Gene_View]  chr11:66685249-66721399 [Contig_View]  SPTBN2 [Vega]
ICGC DataPortalENSG00000173898
TCGA cBioPortalSPTBN2
AceView (NCBI)SPTBN2
Genatlas (Paris)SPTBN2
WikiGenes6712
SOURCE (Princeton)SPTBN2
Genetics Home Reference (NIH)SPTBN2
Genomic and cartography
GoldenPath hg38 (UCSC)SPTBN2  -     chr11:66685249-66721399 -  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPTBN2  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblSPTBN2 - 11q13.2 [CytoView hg19]  SPTBN2 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBISPTBN2 [Mapview hg19]  SPTBN2 [Mapview hg38]
OMIM600224   604985   615386   
Gene and transcription
Genbank (Entrez)AB008567 AF026487 AF026488 AF026488 AF079569
RefSeq transcript (Entrez)NM_006946
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPTBN2
Cluster EST : UnigeneHs.679104 [ NCBI ]
CGAP (NCI)Hs.679104
Alternative Splicing GalleryENSG00000173898
Gene ExpressionSPTBN2 [ NCBI-GEO ]   SPTBN2 [ EBI - ARRAY_EXPRESS ]   SPTBN2 [ SEEK ]   SPTBN2 [ MEM ]
Gene Expression Viewer (FireBrowse)SPTBN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6712
GTEX Portal (Tissue expression)SPTBN2
Human Protein AtlasENSG00000173898-SPTBN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15020   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15020  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15020
Splice isoforms : SwissVarO15020
PhosPhoSitePlusO15020
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    PH_dom-like    PH_dom-spectrin-type    PH_domain    Spectrin/alpha-actinin    Spectrin_bsu    Spectrin_repeat   
Domain families : Pfam (Sanger)CH (PF00307)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  PH (SM00233)  SPEC (SM00150)  
Conserved Domain (NCBI)SPTBN2
DMDM Disease mutations6712
Blocks (Seattle)SPTBN2
PDB (SRS)1WJM    1WYQ   
PDB (PDBSum)1WJM    1WYQ   
PDB (IMB)1WJM    1WYQ   
PDB (RSDB)1WJM    1WYQ   
Structural Biology KnowledgeBase1WJM    1WYQ   
SCOP (Structural Classification of Proteins)1WJM    1WYQ   
CATH (Classification of proteins structures)1WJM    1WYQ   
SuperfamilyO15020
Human Protein Atlas [tissue]ENSG00000173898-SPTBN2 [tissue]
Peptide AtlasO15020
HPRD05404
IPIIPI00012645   IPI00218207   IPI00941774   
Protein Interaction databases
DIP (DOE-UCLA)O15020
IntAct (EBI)O15020
FunCoupENSG00000173898
BioGRIDSPTBN2
STRING (EMBL)SPTBN2
ZODIACSPTBN2
Ontologies - Pathways
QuickGOO15020
Ontology : AmiGOMAPK cascade  actin binding  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  phospholipid binding  extracellular space  cytosol  cytosol  ER to Golgi vesicle-mediated transport  cytoskeleton organization  axon guidance  synapse assembly  spectrin  vesicle-mediated transport  apical plasma membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  cerebellar Purkinje cell layer morphogenesis  cell junction  adult behavior  multicellular organism growth  neuronal cell body  positive regulation of GTPase activity  cadherin binding  actin filament capping  
Ontology : EGO-EBIMAPK cascade  actin binding  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  phospholipid binding  extracellular space  cytosol  cytosol  ER to Golgi vesicle-mediated transport  cytoskeleton organization  axon guidance  synapse assembly  spectrin  vesicle-mediated transport  apical plasma membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  cerebellar Purkinje cell layer morphogenesis  cell junction  adult behavior  multicellular organism growth  neuronal cell body  positive regulation of GTPase activity  cadherin binding  actin filament capping  
NDEx NetworkSPTBN2
Atlas of Cancer Signalling NetworkSPTBN2
Wikipedia pathwaysSPTBN2
Orthology - Evolution
OrthoDB6712
GeneTree (enSembl)ENSG00000173898
Phylogenetic Trees/Animal Genes : TreeFamSPTBN2
HOVERGENO15020
HOGENOMO15020
Homologs : HomoloGeneSPTBN2
Homology/Alignments : Family Browser (UCSC)SPTBN2
Gene fusions - Rearrangements
Tumor Fusion PortalSPTBN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPTBN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTBN2
dbVarSPTBN2
ClinVarSPTBN2
1000_GenomesSPTBN2 
Exome Variant ServerSPTBN2
ExAC (Exome Aggregation Consortium)ENSG00000173898
GNOMAD BrowserENSG00000173898
Genetic variants : HAPMAP6712
Genomic Variants (DGV)SPTBN2 [DGVbeta]
DECIPHERSPTBN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPTBN2 
Mutations
ICGC Data PortalSPTBN2 
TCGA Data PortalSPTBN2 
Broad Tumor PortalSPTBN2
OASIS PortalSPTBN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTBN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPTBN2
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SPTBN2
DgiDB (Drug Gene Interaction Database)SPTBN2
DoCM (Curated mutations)SPTBN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPTBN2 (select a term)
intoGenSPTBN2
Cancer3DSPTBN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600224    604985    615386   
Orphanet22058    13783   
DisGeNETSPTBN2
MedgenSPTBN2
Genetic Testing Registry SPTBN2
NextProtO15020 [Medical]
TSGene6712
GENETestsSPTBN2
Target ValidationSPTBN2
Huge Navigator SPTBN2 [HugePedia]
snp3D : Map Gene to Disease6712
BioCentury BCIQSPTBN2
ClinGenSPTBN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6712
Chemical/Pharm GKB GenePA36105
Clinical trialSPTBN2
Miscellaneous
canSAR (ICR)SPTBN2 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPTBN2
EVEXSPTBN2
GoPubMedSPTBN2
iHOPSPTBN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:36:25 CET 2017

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