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SPTBN1 (spectrin beta, non-erythrocytic 1)

Identity

Other aliasELF
HEL102
SPTB2
betaSpII
HGNC (Hugo) SPTBN1
LocusID (NCBI) 6711
Atlas_Id 53313
Location 2p16.2  [Link to chromosome band 2p16]
Location_base_pair Starts at 54683454 and ends at 54898583 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CRKL (22q11.21) / SPTBN1 (2p16.2)DLG3 (Xq13.1) / SPTBN1 (2p16.2)EEF2 (19p13.3) / SPTBN1 (2p16.2)
FOS (14q24.3) / SPTBN1 (2p16.2)FOXN2 (2p16.3) / SPTBN1 (2p16.2)NCOA1 (2p23.3) / SPTBN1 (2p16.2)
RTN2 (19q13.32) / SPTBN1 (2p16.2)SND1 (7q32.1) / SPTBN1 (2p16.2)SPTBN1 (2p16.2) / ACYP2 (2p16.2)
SPTBN1 (2p16.2) / ECI2 (6p25.2)SPTBN1 (2p16.2) / ENO1 (1p36.23)SPTBN1 (2p16.2) / ERBIN (5q12.3)
SPTBN1 (2p16.2) / FLT3 (13q12.2)SPTBN1 (2p16.2) / GPATCH1 (19q13.11)SPTBN1 (2p16.2) / NADSYN1 (11q13.4)
SPTBN1 (2p16.2) / PDGFRB (5q32)SPTBN1 (2p16.2) / RPS4X (Xq13.1)SPTBN1 (2p16.2) / SERPINB1 (6p25.2)
SPTBN1 (2p16.2) / SF3A3 (1p34.3)SPTBN1 (2p16.2) / SPEN (1p36.21)SPTBN1 (2p16.2) / SPTBN1 (2p16.2)
TRPS1 (8q23.3) / SPTBN1 (2p16.2)ZHX3 (20q12) / SPTBN1 (2p16.2)FOXN2 2p16.3 / SPTBN1 2p16.2
SPTBN1 2p16.2 / ACYP2 2p16.2SPTBN1 2p16.2 / ECI2 6p25.2

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;5)(p21;q33) SPTBN1/PDGFRB
t(2;13)(p16;q12) SPTBN1/FLT3


External links

Nomenclature
HGNC (Hugo)SPTBN1   11275
Cards
Entrez_Gene (NCBI)SPTBN1  6711  spectrin beta, non-erythrocytic 1
AliasesELF; HEL102; SPTB2; betaSpII
GeneCards (Weizmann)SPTBN1
Ensembl hg19 (Hinxton)ENSG00000115306 [Gene_View]  chr2:54683454-54898583 [Contig_View]  SPTBN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115306 [Gene_View]  chr2:54683454-54898583 [Contig_View]  SPTBN1 [Vega]
ICGC DataPortalENSG00000115306
TCGA cBioPortalSPTBN1
AceView (NCBI)SPTBN1
Genatlas (Paris)SPTBN1
WikiGenes6711
SOURCE (Princeton)SPTBN1
Genetics Home Reference (NIH)SPTBN1
Genomic and cartography
GoldenPath hg19 (UCSC)SPTBN1  -     chr2:54683454-54898583 +  2p16.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPTBN1  -     2p16.2   [Description]    (hg38-Dec_2013)
EnsemblSPTBN1 - 2p16.2 [CytoView hg19]  SPTBN1 - 2p16.2 [CytoView hg38]
Mapping of homologs : NCBISPTBN1 [Mapview hg19]  SPTBN1 [Mapview hg38]
OMIM182790   
Gene and transcription
Genbank (Entrez)AB209551 AB209748 AB371586 AF218848 AF327441
RefSeq transcript (Entrez)NM_003128 NM_178313
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_029817 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)SPTBN1
Cluster EST : UnigeneHs.705692 [ NCBI ]
CGAP (NCI)Hs.705692
Alternative Splicing GalleryENSG00000115306
Gene ExpressionSPTBN1 [ NCBI-GEO ]   SPTBN1 [ EBI - ARRAY_EXPRESS ]   SPTBN1 [ SEEK ]   SPTBN1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPTBN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6711
GTEX Portal (Tissue expression)SPTBN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01082   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01082  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01082
Splice isoforms : SwissVarQ01082
PhosPhoSitePlusQ01082
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)SPTBN1
DMDM Disease mutations6711
Blocks (Seattle)SPTBN1
PDB (SRS)1AA2    1BKR    3EDV   
PDB (PDBSum)1AA2    1BKR    3EDV   
PDB (IMB)1AA2    1BKR    3EDV   
PDB (RSDB)1AA2    1BKR    3EDV   
Structural Biology KnowledgeBase1AA2    1BKR    3EDV   
SCOP (Structural Classification of Proteins)1AA2    1BKR    3EDV   
CATH (Classification of proteins structures)1AA2    1BKR    3EDV   
SuperfamilyQ01082
Human Protein AtlasENSG00000115306
Peptide AtlasQ01082
HPRD01683
IPIIPI00005614   IPI00328230   IPI00333015   IPI00969090   IPI01025530   
Protein Interaction databases
DIP (DOE-UCLA)Q01082
IntAct (EBI)Q01082
FunCoupENSG00000115306
BioGRIDSPTBN1
STRING (EMBL)SPTBN1
ZODIACSPTBN1
Ontologies - Pathways
QuickGOQ01082
Ontology : AmiGOMAPK cascade  mitotic cytokinesis  actin binding  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  protein binding  calmodulin binding  phospholipid binding  nucleolus  cytoplasm  cytosol  ER to Golgi vesicle-mediated transport  plasma membrane organization  common-partner SMAD protein phosphorylation  SMAD protein import into nucleus  axon guidance  spectrin  spectrin-associated cytoskeleton  ankyrin binding  ankyrin binding  axolemma  M band  cuticular plate  Golgi to plasma membrane protein transport  positive regulation of GTPase activity  poly(A) RNA binding  GTPase binding  actin filament capping  extracellular exosome  membrane assembly  protein targeting to plasma membrane  neuronal postsynaptic density  positive regulation of interleukin-2 secretion  regulation of protein localization to plasma membrane  positive regulation of protein localization to plasma membrane  
Ontology : EGO-EBIMAPK cascade  mitotic cytokinesis  actin binding  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  protein binding  calmodulin binding  phospholipid binding  nucleolus  cytoplasm  cytosol  ER to Golgi vesicle-mediated transport  plasma membrane organization  common-partner SMAD protein phosphorylation  SMAD protein import into nucleus  axon guidance  spectrin  spectrin-associated cytoskeleton  ankyrin binding  ankyrin binding  axolemma  M band  cuticular plate  Golgi to plasma membrane protein transport  positive regulation of GTPase activity  poly(A) RNA binding  GTPase binding  actin filament capping  extracellular exosome  membrane assembly  protein targeting to plasma membrane  neuronal postsynaptic density  positive regulation of interleukin-2 secretion  regulation of protein localization to plasma membrane  positive regulation of protein localization to plasma membrane  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]   
NDEx NetworkSPTBN1
Atlas of Cancer Signalling NetworkSPTBN1
Wikipedia pathwaysSPTBN1
Orthology - Evolution
OrthoDB6711
GeneTree (enSembl)ENSG00000115306
Phylogenetic Trees/Animal Genes : TreeFamSPTBN1
HOVERGENQ01082
HOGENOMQ01082
Homologs : HomoloGeneSPTBN1
Homology/Alignments : Family Browser (UCSC)SPTBN1
Gene fusions - Rearrangements
Fusion : MitelmanFOXN2/SPTBN1 [2p16.3/2p16.2]  [t(2;2)(p16;p16)]  
Fusion : MitelmanSPTBN1/ACYP2 [2p16.2/2p16.2]  [t(2;2)(p16;p16)]  
Fusion : MitelmanSPTBN1/ECI2 [2p16.2/6p25.2]  [t(2;6)(p16;p25)]  
Fusion : MitelmanSPTBN1/PDGFRB [2p16.2/5q32]  [t(2;5)(p16;q32)]  
Fusion: TCGAFOXN2 2p16.3 SPTBN1 2p16.2 LUSC
Fusion: TCGASPTBN1 2p16.2 ACYP2 2p16.2 BRCA OV
Fusion: TCGASPTBN1 2p16.2 ECI2 6p25.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPTBN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTBN1
dbVarSPTBN1
ClinVarSPTBN1
1000_GenomesSPTBN1 
Exome Variant ServerSPTBN1
ExAC (Exome Aggregation Consortium)SPTBN1 (select the gene name)
Genetic variants : HAPMAP6711
Genomic Variants (DGV)SPTBN1 [DGVbeta]
DECIPHER (Syndromes)2:54683454-54898583  ENSG00000115306
CONAN: Copy Number AnalysisSPTBN1 
Mutations
ICGC Data PortalSPTBN1 
TCGA Data PortalSPTBN1 
Broad Tumor PortalSPTBN1
OASIS PortalSPTBN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTBN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPTBN1
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 SPTBN1
DgiDB (Drug Gene Interaction Database)SPTBN1
DoCM (Curated mutations)SPTBN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPTBN1 (select a term)
intoGenSPTBN1
Cancer3DSPTBN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182790   
Orphanet
MedgenSPTBN1
Genetic Testing Registry SPTBN1
NextProtQ01082 [Medical]
TSGene6711
GENETestsSPTBN1
Huge Navigator SPTBN1 [HugePedia]
snp3D : Map Gene to Disease6711
BioCentury BCIQSPTBN1
ClinGenSPTBN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6711
Chemical/Pharm GKB GenePA36104
Clinical trialSPTBN1
Miscellaneous
canSAR (ICR)SPTBN1 (select the gene name)
Probes
Litterature
PubMed109 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPTBN1
EVEXSPTBN1
GoPubMedSPTBN1
iHOPSPTBN1
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 Mar 14 13:29:03 CET 2017

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