Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPTBN4 (spectrin, beta, non-erythrocytic 4)

Identity

Alias_symbol (synonym)SPTBN3
KIAA1642
Other aliasQV
SPNB4
HGNC (Hugo) SPTBN4
LocusID (NCBI) 57731
Atlas_Id 74216
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 40973126 and ends at 41082365 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SPTBN4 (19q13.2) / C19orf47 (19q13.2)SPTBN4 (19q13.2) / JAK3 (19p13.11)SPTBN4 (19q13.2) / SIPA1L3 (19q13.13)
SPTBN4 C19orf47SPTBN4 SIPA1L3

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)SPTBN4   14896
Cards
Entrez_Gene (NCBI)SPTBN4  57731  spectrin, beta, non-erythrocytic 4
AliasesQV; SPNB4; SPTBN3
GeneCards (Weizmann)SPTBN4
Ensembl hg19 (Hinxton)ENSG00000160460 [Gene_View]  chr19:40973126-41082365 [Contig_View]  SPTBN4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160460 [Gene_View]  chr19:40973126-41082365 [Contig_View]  SPTBN4 [Vega]
ICGC DataPortalENSG00000160460
TCGA cBioPortalSPTBN4
AceView (NCBI)SPTBN4
Genatlas (Paris)SPTBN4
WikiGenes57731
SOURCE (Princeton)SPTBN4
Genetics Home Reference (NIH)SPTBN4
Genomic and cartography
GoldenPath hg19 (UCSC)SPTBN4  -     chr19:40973126-41082365 +  19q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPTBN4  -     19q13.2   [Description]    (hg38-Dec_2013)
EnsemblSPTBN4 - 19q13.2 [CytoView hg19]  SPTBN4 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBISPTBN4 [Mapview hg19]  SPTBN4 [Mapview hg38]
OMIM606214   
Gene and transcription
Genbank (Entrez)AB046862 AF082075 AF311855 AF311856 AF324063
RefSeq transcript (Entrez)NM_020971 NM_025213
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_029905 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)SPTBN4
Cluster EST : UnigeneHs.32706 [ NCBI ]
CGAP (NCI)Hs.32706
Alternative Splicing GalleryENSG00000160460
Gene ExpressionSPTBN4 [ NCBI-GEO ]   SPTBN4 [ EBI - ARRAY_EXPRESS ]   SPTBN4 [ SEEK ]   SPTBN4 [ MEM ]
Gene Expression Viewer (FireBrowse)SPTBN4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57731
GTEX Portal (Tissue expression)SPTBN4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H254   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H254  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H254
Splice isoforms : SwissVarQ9H254
PhosPhoSitePlusQ9H254
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-spectrin-type    PH_domain    PH_like_dom    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)SPTBN4
DMDM Disease mutations57731
Blocks (Seattle)SPTBN4
SuperfamilyQ9H254
Human Protein AtlasENSG00000160460
Peptide AtlasQ9H254
HPRD09372
IPIIPI00018829   IPI00217044   IPI00217047   IPI00217048   IPI00953672   IPI01015691   IPI00871486   
Protein Interaction databases
DIP (DOE-UCLA)Q9H254
IntAct (EBI)Q9H254
FunCoupENSG00000160460
BioGRIDSPTBN4
STRING (EMBL)SPTBN4
ZODIACSPTBN4
Ontologies - Pathways
QuickGOQ9H254
Ontology : AmiGOregulation of sodium ion transport  actin binding  actin binding  structural constituent of cytoskeleton  protein binding  phospholipid binding  cytoplasm  cytoplasm  cytosol  plasma membrane  adherens junction  cytoskeletal anchoring at plasma membrane  axonogenesis  axon guidance  sensory perception of sound  adult walking behavior  spectrin  spectrin  fertilization  negative regulation of heart rate  membrane  vesicle-mediated transport  nuclear matrix  nuclear matrix  PML body  PML body  transmission of nerve impulse  phosphatase binding  central nervous system projection neuron axonogenesis  ankyrin binding  ankyrin binding  spectrin binding  regulation of peptidyl-serine phosphorylation  node of Ranvier  paranode region of axon  positive regulation of multicellular organism growth  neuronal cell body  axon initial segment  axon hillock  clustering of voltage-gated sodium channels  actin filament capping  cardiac conduction  extracellular exosome  cell body fiber  establishment of protein localization to plasma membrane  
Ontology : EGO-EBIregulation of sodium ion transport  actin binding  actin binding  structural constituent of cytoskeleton  protein binding  phospholipid binding  cytoplasm  cytoplasm  cytosol  plasma membrane  adherens junction  cytoskeletal anchoring at plasma membrane  axonogenesis  axon guidance  sensory perception of sound  adult walking behavior  spectrin  spectrin  fertilization  negative regulation of heart rate  membrane  vesicle-mediated transport  nuclear matrix  nuclear matrix  PML body  PML body  transmission of nerve impulse  phosphatase binding  central nervous system projection neuron axonogenesis  ankyrin binding  ankyrin binding  spectrin binding  regulation of peptidyl-serine phosphorylation  node of Ranvier  paranode region of axon  positive regulation of multicellular organism growth  neuronal cell body  axon initial segment  axon hillock  clustering of voltage-gated sodium channels  actin filament capping  cardiac conduction  extracellular exosome  cell body fiber  establishment of protein localization to plasma membrane  
NDEx NetworkSPTBN4
Atlas of Cancer Signalling NetworkSPTBN4
Wikipedia pathwaysSPTBN4
Orthology - Evolution
OrthoDB57731
GeneTree (enSembl)ENSG00000160460
Phylogenetic Trees/Animal Genes : TreeFamSPTBN4
HOVERGENQ9H254
HOGENOMQ9H254
Homologs : HomoloGeneSPTBN4
Homology/Alignments : Family Browser (UCSC)SPTBN4
Gene fusions - Rearrangements
Fusion: TCGASPTBN4 C19orf47
Fusion: TCGASPTBN4 SIPA1L3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPTBN4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTBN4
dbVarSPTBN4
ClinVarSPTBN4
1000_GenomesSPTBN4 
Exome Variant ServerSPTBN4
ExAC (Exome Aggregation Consortium)SPTBN4 (select the gene name)
Genetic variants : HAPMAP57731
Genomic Variants (DGV)SPTBN4 [DGVbeta]
DECIPHER (Syndromes)19:40973126-41082365  ENSG00000160460
CONAN: Copy Number AnalysisSPTBN4 
Mutations
ICGC Data PortalSPTBN4 
TCGA Data PortalSPTBN4 
Broad Tumor PortalSPTBN4
OASIS PortalSPTBN4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTBN4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPTBN4
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 SPTBN4
DgiDB (Drug Gene Interaction Database)SPTBN4
DoCM (Curated mutations)SPTBN4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPTBN4 (select a term)
intoGenSPTBN4
Cancer3DSPTBN4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606214   
Orphanet
MedgenSPTBN4
Genetic Testing Registry SPTBN4
NextProtQ9H254 [Medical]
TSGene57731
GENETestsSPTBN4
Huge Navigator SPTBN4 [HugePedia]
snp3D : Map Gene to Disease57731
BioCentury BCIQSPTBN4
ClinGenSPTBN4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57731
Chemical/Pharm GKB GenePA37918
Clinical trialSPTBN4
Miscellaneous
canSAR (ICR)SPTBN4 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPTBN4
EVEXSPTBN4
GoPubMedSPTBN4
iHOPSPTBN4
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 Mar 14 12:46:37 CET 2017

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