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SPTB (spectrin beta, erythrocytic)

Identity

Alias (NCBI)EL3
HS2
HSPTB1
SPH2
HGNC (Hugo) SPTB
HGNC Alias namespherocytosis, clinical type I
LocusID (NCBI) 6710
Atlas_Id 42383
Location 14q23.3  [Link to chromosome band 14q23]
Location_base_pair Starts at 64766399 and ends at 64879907 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)
CREBBP (16p13.3) / SPTB (14q23.3)DLAT (11q23.1) / SPTB (14q23.3)NOL8 (9q22.31) / SPTB (14q23.3)
SPTB (14q23.3) / DLAT (11q23.1)SPTB (14q23.3) / RAB15 (14q23.3)UBAC2 (13q32.3) / SPTB (14q23.3)
SPTB 14q23.3 / RAB15 14q23.3UBAC2 13q32.3 / SPTB 14q23.3

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)SPTB   11274
LRG (Locus Reference Genomic)LRG_1130
Cards
Entrez_Gene (NCBI)SPTB    spectrin beta, erythrocytic
AliasesEL3; HS2; HSPTB1; SPH2
GeneCards (Weizmann)SPTB
Ensembl hg19 (Hinxton)ENSG00000070182 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070182 [Gene_View]  ENSG00000070182 [Sequence]  chr14:64766399-64879907 [Contig_View]  SPTB [Vega]
ICGC DataPortalENSG00000070182
TCGA cBioPortalSPTB
AceView (NCBI)SPTB
Genatlas (Paris)SPTB
SOURCE (Princeton)SPTB
Genetics Home Reference (NIH)SPTB
Genomic and cartography
GoldenPath hg38 (UCSC)SPTB  -     chr14:64766399-64879907 -  14q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPTB  -     14q23.3   [Description]    (hg19-Feb_2009)
GoldenPathSPTB - 14q23.3 [CytoView hg19]  SPTB - 14q23.3 [CytoView hg38]
ImmunoBaseENSG00000070182
Genome Data Viewer NCBISPTB [Mapview hg19]  
OMIM182870   616649   617948   
Gene and transcription
Genbank (Entrez)AB209415 AF465439 AK094815 AK126627 BC010434
RefSeq transcript (Entrez)NM_000347 NM_001024858 NM_001355436 NM_001355437
Consensus coding sequences : CCDS (NCBI)SPTB
Gene ExpressionSPTB [ NCBI-GEO ]   SPTB [ EBI - ARRAY_EXPRESS ]   SPTB [ SEEK ]   SPTB [ MEM ]
Gene Expression Viewer (FireBrowse)SPTB [ Firebrowse - Broad ]
GenevisibleExpression of SPTB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6710
GTEX Portal (Tissue expression)SPTB
Human Protein AtlasENSG00000070182-SPTB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11277   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11277  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11277
PhosPhoSitePlusP11277
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    CH_dom_sf    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)  SPEC (SM00150)  
Conserved Domain (NCBI)SPTB
PDB (RSDB)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
PDB Europe1S35    3EDU    3F57    3KBT    3KBU    3LBX   
PDB (PDBSum)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
PDB (IMB)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
Structural Biology KnowledgeBase1S35    3EDU    3F57    3KBT    3KBU    3LBX   
SCOP (Structural Classification of Proteins)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
CATH (Classification of proteins structures)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
SuperfamilyP11277
AlphaFold pdb e-kbP11277   
Human Protein Atlas [tissue]ENSG00000070182-SPTB [tissue]
HPRD01686
Protein Interaction databases
DIP (DOE-UCLA)P11277
IntAct (EBI)P11277
BioGRIDSPTB
STRING (EMBL)SPTB
ZODIACSPTB
Ontologies - Pathways
QuickGOP11277
Ontology : AmiGOMAPK cascade  actin binding  structural constituent of cytoskeleton  protein binding  cytosol  cytosol  endoplasmic reticulum to Golgi vesicle-mediated transport  cytoskeleton organization  axon guidance  spectrin  spectrin-associated cytoskeleton  actin cytoskeleton  ankyrin binding  intrinsic component of the cytoplasmic side of the plasma membrane  protein-containing complex  actin filament binding  actin filament capping  
Ontology : EGO-EBIMAPK cascade  actin binding  structural constituent of cytoskeleton  protein binding  cytosol  cytosol  endoplasmic reticulum to Golgi vesicle-mediated transport  cytoskeleton organization  axon guidance  spectrin  spectrin-associated cytoskeleton  actin cytoskeleton  ankyrin binding  intrinsic component of the cytoplasmic side of the plasma membrane  protein-containing complex  actin filament binding  actin filament capping  
NDEx NetworkSPTB
Atlas of Cancer Signalling NetworkSPTB
Wikipedia pathwaysSPTB
Orthology - Evolution
OrthoDB6710
GeneTree (enSembl)ENSG00000070182
Phylogenetic Trees/Animal Genes : TreeFamSPTB
Homologs : HomoloGeneSPTB
Homology/Alignments : Family Browser (UCSC)SPTB
Gene fusions - Rearrangements
Fusion : MitelmanSPTB/RAB15 [14q23.3/14q23.3]  
Fusion : MitelmanUBAC2/SPTB [13q32.3/14q23.3]  
Fusion Cancer (Beijing)CREBBP [16p13.3]  -  SPTB [14q23.3]  [FUSC004298]
Fusion : QuiverSPTB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPTB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTB
dbVarSPTB
ClinVarSPTB
MonarchSPTB
1000_GenomesSPTB 
Exome Variant ServerSPTB
GNOMAD BrowserENSG00000070182
Varsome BrowserSPTB
ACMGSPTB variants
VarityP11277
Genomic Variants (DGV)SPTB [DGVbeta]
DECIPHERSPTB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPTB 
Mutations
ICGC Data PortalSPTB 
TCGA Data PortalSPTB 
Broad Tumor PortalSPTB
OASIS PortalSPTB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPTB
Mutations and Diseases : HGMDSPTB
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPTB
DgiDB (Drug Gene Interaction Database)SPTB
DoCM (Curated mutations)SPTB
CIViC (Clinical Interpretations of Variants in Cancer)SPTB
Cancer3DSPTB
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182870    616649    617948   
Orphanet3252    3655   
DisGeNETSPTB
MedgenSPTB
Genetic Testing Registry SPTB
NextProtP11277 [Medical]
GENETestsSPTB
Target ValidationSPTB
Huge Navigator SPTB [HugePedia]
ClinGenSPTB
Clinical trials, drugs, therapy
MyCancerGenomeSPTB
Protein Interactions : CTDSPTB
Pharm GKB GenePA36103
PharosP11277
Clinical trialSPTB
Miscellaneous
canSAR (ICR)SPTB
HarmonizomeSPTB
DataMed IndexSPTB
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPTB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:33:03 CEST 2021

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