Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPTBN5 (spectrin beta, non-erythrocytic 5)

Identity

Alias_symbol (synonym)HUSPECV
BSPECV
HUBSPECV
Other alias
HGNC (Hugo) SPTBN5
LocusID (NCBI) 51332
Atlas_Id 74217
Location 15q15.1  [Link to chromosome band 15q15]
Location_base_pair Starts at 41848146 and ends at 41894077 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)

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)SPTBN5   15680
Cards
Entrez_Gene (NCBI)SPTBN5  51332  spectrin beta, non-erythrocytic 5
AliasesBSPECV; HUBSPECV; HUSPECV
GeneCards (Weizmann)SPTBN5
Ensembl hg19 (Hinxton)ENSG00000137877 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137877 [Gene_View]  chr15:41848146-41894077 [Contig_View]  SPTBN5 [Vega]
ICGC DataPortalENSG00000137877
TCGA cBioPortalSPTBN5
AceView (NCBI)SPTBN5
Genatlas (Paris)SPTBN5
WikiGenes51332
SOURCE (Princeton)SPTBN5
Genetics Home Reference (NIH)SPTBN5
Genomic and cartography
GoldenPath hg38 (UCSC)SPTBN5  -     chr15:41848146-41894077 -  15q15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPTBN5  -     15q15.1   [Description]    (hg19-Feb_2009)
EnsemblSPTBN5 - 15q15.1 [CytoView hg19]  SPTBN5 - 15q15.1 [CytoView hg38]
Mapping of homologs : NCBISPTBN5 [Mapview hg19]  SPTBN5 [Mapview hg38]
OMIM605916   
Gene and transcription
Genbank (Entrez)AA599654 AF233523 BF515053
RefSeq transcript (Entrez)NM_016642
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPTBN5
Cluster EST : UnigeneHs.709819 [ NCBI ]
CGAP (NCI)Hs.709819
Alternative Splicing GalleryENSG00000137877
Gene ExpressionSPTBN5 [ NCBI-GEO ]   SPTBN5 [ EBI - ARRAY_EXPRESS ]   SPTBN5 [ SEEK ]   SPTBN5 [ MEM ]
Gene Expression Viewer (FireBrowse)SPTBN5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51332
GTEX Portal (Tissue expression)SPTBN5
Human Protein AtlasENSG00000137877-SPTBN5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRC6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRC6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRC6
Splice isoforms : SwissVarQ9NRC6
PhosPhoSitePlusQ9NRC6
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_domain    Spectrin/alpha-actinin    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)SPTBN5
DMDM Disease mutations51332
Blocks (Seattle)SPTBN5
SuperfamilyQ9NRC6
Human Protein Atlas [tissue]ENSG00000137877-SPTBN5 [tissue]
Peptide AtlasQ9NRC6
HPRD10438
IPIIPI00219168   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRC6
IntAct (EBI)Q9NRC6
FunCoupENSG00000137877
BioGRIDSPTBN5
STRING (EMBL)SPTBN5
ZODIACSPTBN5
Ontologies - Pathways
QuickGOQ9NRC6
Ontology : AmiGOMAPK cascade  actin binding  Ras guanyl-nucleotide exchange factor activity  cytoplasm  cytosol  ER to Golgi vesicle-mediated transport  Golgi organization  lysosomal transport  axon guidance  spectrin  membrane  kinesin binding  actin cytoskeleton organization  spectrin binding  myosin tail binding  photoreceptor connecting cilium  dynactin binding  positive regulation of GTPase activity  protein self-association  dynein intermediate chain binding  protein homooligomerization  actin filament capping  extracellular exosome  photoreceptor disc membrane  
Ontology : EGO-EBIMAPK cascade  actin binding  Ras guanyl-nucleotide exchange factor activity  cytoplasm  cytosol  ER to Golgi vesicle-mediated transport  Golgi organization  lysosomal transport  axon guidance  spectrin  membrane  kinesin binding  actin cytoskeleton organization  spectrin binding  myosin tail binding  photoreceptor connecting cilium  dynactin binding  positive regulation of GTPase activity  protein self-association  dynein intermediate chain binding  protein homooligomerization  actin filament capping  extracellular exosome  photoreceptor disc membrane  
NDEx NetworkSPTBN5
Atlas of Cancer Signalling NetworkSPTBN5
Wikipedia pathwaysSPTBN5
Orthology - Evolution
OrthoDB51332
GeneTree (enSembl)ENSG00000137877
Phylogenetic Trees/Animal Genes : TreeFamSPTBN5
HOVERGENQ9NRC6
HOGENOMQ9NRC6
Homologs : HomoloGeneSPTBN5
Homology/Alignments : Family Browser (UCSC)SPTBN5
Gene fusions - Rearrangements
Tumor Fusion PortalSPTBN5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPTBN5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTBN5
dbVarSPTBN5
ClinVarSPTBN5
1000_GenomesSPTBN5 
Exome Variant ServerSPTBN5
ExAC (Exome Aggregation Consortium)ENSG00000137877
GNOMAD BrowserENSG00000137877
Genetic variants : HAPMAP51332
Genomic Variants (DGV)SPTBN5 [DGVbeta]
DECIPHERSPTBN5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPTBN5 
Mutations
ICGC Data PortalSPTBN5 
TCGA Data PortalSPTBN5 
Broad Tumor PortalSPTBN5
OASIS PortalSPTBN5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTBN5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPTBN5
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 SPTBN5
DgiDB (Drug Gene Interaction Database)SPTBN5
DoCM (Curated mutations)SPTBN5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPTBN5 (select a term)
intoGenSPTBN5
Cancer3DSPTBN5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605916   
Orphanet
DisGeNETSPTBN5
MedgenSPTBN5
Genetic Testing Registry SPTBN5
NextProtQ9NRC6 [Medical]
TSGene51332
GENETestsSPTBN5
Target ValidationSPTBN5
Huge Navigator SPTBN5 [HugePedia]
snp3D : Map Gene to Disease51332
BioCentury BCIQSPTBN5
ClinGenSPTBN5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51332
Chemical/Pharm GKB GenePA38020
Clinical trialSPTBN5
Miscellaneous
canSAR (ICR)SPTBN5 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPTBN5
EVEXSPTBN5
GoPubMedSPTBN5
iHOPSPTBN5
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 : Tue Nov 21 13:32:32 CET 2017

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