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SPTB (spectrin, beta, erythrocytic)

Identity

Other namesEL3
HS2
HSPTB1
SPH2
HGNC (Hugo) SPTB
LocusID (NCBI) 6710
Location 14q23.3
Location_base_pair Starts at 65233117 and ends at 65289866 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)SPTB  6710  spectrin, beta, erythrocytic
GeneCards (Weizmann)SPTB
Ensembl (Hinxton)ENSG00000070182 [Gene_View]  chr14:65233117-65289866 [Contig_View]  SPTB [Vega]
ICGC DataPortalENSG00000070182
cBioPortalSPTB
AceView (NCBI)SPTB
Genatlas (Paris)SPTB
WikiGenes6710
SOURCE (Princeton)NM_000347 NM_001024858
Genomic and cartography
GoldenPath (UCSC)SPTB  -  14q23.3   chr14:65233117-65289866 -  14q23.3   [Description]    (hg19-Feb_2009)
EnsemblSPTB - 14q23.3 [CytoView]
Mapping of homologs : NCBISPTB [Mapview]
OMIM182870   
Gene and transcription
Genbank (Entrez)AB209415 AF465439 AK094815 AK126627 BC010434
RefSeq transcript (Entrez)NM_000347 NM_001024858
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_016202 NT_026437 NW_001838111 NW_004929393
Consensus coding sequences : CCDS (NCBI)SPTB
Cluster EST : UnigeneHs.417303 [ NCBI ]
CGAP (NCI)Hs.417303
Alternative Splicing : Fast-db (Paris)GSHG0009425
Alternative Splicing GalleryENSG00000070182
Gene ExpressionSPTB [ NCBI-GEO ]     SPTB [ SEEK ]   SPTB [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11277 (Uniprot)
NextProtP11277  [Medical]
With graphics : InterProP11277
Splice isoforms : SwissVarP11277 (Swissvar)
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)   
Domains : Interpro (EBI)Actinin_actin-bd_CS [organisation]   CH-domain [organisation]   Spectrin/alpha-actinin [organisation]   Spectrin_bsu [organisation]   Spectrin_repeat [organisation]  
Related proteins : CluSTrP11277
Domain families : Pfam (Sanger)CH (PF00307)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  SPEC (SM00150)  
DMDM Disease mutations6710
Blocks (Seattle)P11277
PDB (SRS)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
PDB (PDBSum)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
PDB (IMB)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
PDB (RSDB)1S35    3EDU    3F57    3KBT    3KBU    3LBX   
Human Protein AtlasENSG00000070182 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP11277
HPRD01686
IPIIPI00783228   IPI00216704   IPI00237806   IPI00384172   IPI00914949   IPI00746607   IPI01026370   
Protein Interaction databases
DIP (DOE-UCLA)P11277
IntAct (EBI)P11277
FunCoupENSG00000070182
BioGRIDSPTB
InParanoidP11277
Interologous Interaction database P11277
IntegromeDBSPTB
STRING (EMBL)SPTB
Ontologies - Pathways
Ontology : AmiGOactin binding  structural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  porphyrin-containing compound biosynthetic process  plasma membrane organization  axon guidance  spectrin  cell surface  spectrin-associated cytoskeleton  actin cytoskeleton  hemopoiesis  ankyrin binding  intrinsic component of the cytoplasmic side of the plasma membrane  protein complex  protein heterodimerization activity  actin filament binding  actin filament capping  
Ontology : EGO-EBIactin binding  structural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  porphyrin-containing compound biosynthetic process  plasma membrane organization  axon guidance  spectrin  cell surface  spectrin-associated cytoskeleton  actin cytoskeleton  hemopoiesis  ankyrin binding  intrinsic component of the cytoplasmic side of the plasma membrane  protein complex  protein heterodimerization activity  actin filament binding  actin filament capping  
Protein Interaction DatabaseSPTB
Wikipedia pathwaysSPTB
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SPTB
snp3D : Map Gene to Disease6710
SNP (GeneSNP Utah)SPTB
SNP : HGBaseSPTB
Genetic variants : HAPMAPSPTB
Exome VariantSPTB
1000_GenomesSPTB 
ICGC programENSG00000070182 
Somatic Mutations in Cancer : COSMICSPTB 
CONAN: Copy Number AnalysisSPTB 
Mutations and Diseases : HGMDSPTB
Genomic VariantsSPTB  SPTB [DGVbeta]
dbVarSPTB
ClinVarSPTB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM182870   
MedgenSPTB
GENETestsSPTB
Disease Genetic AssociationSPTB
Huge Navigator SPTB [HugePedia]  SPTB [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSPTB
Homology/Alignments : Family Browser (UCSC)SPTB
Phylogenetic Trees/Animal Genes : TreeFamSPTB
Chemical/Protein Interactions : CTD6710
Chemical/Pharm GKB GenePA36103
Clinical trialSPTB
Cancer Resource (Charite)ENSG00000070182
Other databases
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
CoreMineSPTB
iHOPSPTB
OncoSearchSPTB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:48:39 CEST 2014

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