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Sptb
Gene Detail
Symbol

Name
ID
Sptb
spectrin beta, erythrocytic
MGI:98387
Synonyms
brain erythroid spectrin (235E), D330027P03Rik, LOC383567, spectrin R, Spnb1, Spnb-1
Feature Type
protein coding gene
Genetic Map
Chromosome 12
33.73 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
Chr12:76580488-76710547 bp, - strand
From VEGA annotation of GRCm38

  130060 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:295  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: spectrin, beta subunit
Gene Tree: Sptb

Human
homologs
Human Homolog SPTB, spectrin, beta, erythrocytic
NCBI Gene ID 6710
neXtProt AC  NX_P11277
Human Synonyms  EL3, HS2, HSPTB1, SPH2
Human Chr (Location)  14q23-q24.2; chr14:64746283-64879883 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Spontaneous(2) Targeted(2)
Incidental mutations (data from APF )
 
Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic.
 
Human Diseases Modeled Using Mouse Sptb (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Sptb interacts with 305 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process actin filament capping, hemopoiesis, ...
Component cell surface, cortical cytoskeleton, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (34)    Tissues (6)    Images (19)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 19
Northern blot 11
RT-PCR 2
RNase protection 2
cDNA source data(49)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(52) Genomic(1) cDNA(49) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000035470 (Evidence)
Ensembl Gene ModelENSMUSG00000021061 (Evidence)
Entrez Gene20741 (Evidence)
UniGene32881
DFCITC1581567, TC1604524
DoTSDT.55189876
NIA Mouse Gene IndexU034090
Consensus CDS ProjectCCDS36477.1
International Mouse Knockout Project StatusSptb
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035470 VEGA Gene Model | MGI Sequence Detail 130060 C57BL/6J ±  kb
transcript OTTMUST00000090781 VEGA | MGI Sequence Detail 10394 Not Applicable 
polypeptide OTTMUSP00000049853 VEGA | MGI Sequence Detail 2329 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(2) UniProt(15)
Polymorphisms
RFLP(4) : SNPs within 2kb(770 from dbSNP Build 137)    SNPs within 2kb including multiple locations(780)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR001605 Pleckstrin homology domain, spectrin-type
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR016343 Spectrin, beta subunit
InterPro IPR002017 Spectrin repeat
Protein Ontology PR:000015592 spectrin beta chain, erythrocytic
References
(Earliest) J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50:35-9
(Latest) J:186305 Stankewich MC, et al., Cell organization, growth, and neural and cardiac development require alphaII-spectrin. J Cell Sci. 2011 Dec 1;124(Pt 23):3956-66
All references(70)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-11515, MGD-MRK-14539, MGD-MRK-14541, MGI:2144894, MGI:2686147

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory