About   Help   FAQ
Sptbn1
Gene Detail
Symbol

Name
ID
Sptbn1
spectrin beta, non-erythrocytic 1
MGI:98388
Synonyms
9930031C03Rik, beta fodrin, brain spectrin, elf1, elf3, non-erythrocytic, spectrin G, Spnb2, Spnb-2
Feature Type
protein coding gene
Genetic Map
Chromosome 11
17.44 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr11:30099395-30268175 bp, - strand
From VEGA annotation of GRCm38

  168781 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2354  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: SPTBN1
Protein SuperFamily: spectrin, beta subunit
Gene Tree: Sptbn1

Human
homologs
SPTBN1, spectrin, beta, non-erythrocytic 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6711
neXtProt AC: NX_Q01082

Human Synonyms: betaSpII, ELF, HEL102, SPTB2

Human Chr (Location): 2p21; chr2:54456317-54671446 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(46) : Gene trapped(41) Targeted(5)
Incidental mutations (data from APF , CvDC )
 
Homozygotes for a targeted null mutation exhibit gastrointestinal, hepatic, neural, and cardiac defects. Mutants die around midgestation.
 
Human Diseases Modeled in Mice Using Sptbn1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Sptbn1 interacts with 400 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (40 annotations)
Process actin filament capping, common-partner SMAD protein phosphorylation, ...
Component axolemma, cell, ...
Function actin binding, ankyrin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (27)    Tissues (14)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 14
Northern blot 11
RT-PCR 2
cDNA source data(32)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sptbn1    NEW 
Molecular
reagents
All nucleic(38) cDNA(35) Primer pair(2) Other(1)
Microarray probesets(9)
Other database
links
VEGA Gene Model OTTMUSG00000005341 (Evidence)
Ensembl Gene Model ENSMUSG00000020315 (Evidence)
Entrez Gene 20742 (Evidence)
DFCI TC1573397, TC1579767, TC1598681, TC1617942, TC1638760, TC1639305, TC1640397
DoTS DT.101404450, DT.101739206, DT.110508058, DT.522801, DT.525132, DT.55101064, DT.91367099, DT.91482135, DT.94370473, DT.97357486
NIA Mouse Gene Index U032609
PDB 1BTN, 1MPH
Consensus CDS Project CCDS24506.1, CCDS36123.1
International Mouse Phenotyping Consortium Status Sptbn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005341 VEGA Gene Model | MGI Sequence Detail 168781 C57BL/6J ±  kb
transcript OTTMUST00000011917 VEGA | MGI Sequence Detail 8461 Not Applicable 
polypeptide OTTMUSP00000005519 VEGA | MGI Sequence Detail 2363 Not Applicable 

For the selected sequences
All sequences(99) RefSeq(11) UniProt(10)
Polymorphisms
RFLP(5) : SNPs within 2kb(1627 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type actin-binding domain, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB)
InterPro IPR001605 Pleckstrin homology domain, spectrin-type
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR016343 Spectrin, beta subunit
InterPro IPR002017 Spectrin repeat
Protein Ontology PR:000003166 spectrin beta chain, non-erythrocytic 1
References
(Earliest) J:32042 Birkenmeier CS, et al., Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985 Sep;82(17):5671-5
(Latest) J:219548 Lim JA, et al., Loss of beta2-spectrin prevents cardiomyocyte differentiation and heart development. Cardiovasc Res. 2014 Jan 1;101(1):39-47
All references(85)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-14540, MGD-MRK-14542, MGI:2144359, MGI:2444922

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory