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Sptbn2
Gene Detail
 Symbol
Name
ID
Sptbn2
spectrin beta, non-erythrocytic 2
MGI:1313261
Synonyms Spnb3
Feature Type protein coding gene
Genetic Map
Chromosome 19
4.10 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr19:4711223-4752352 bp, + strand
From NCBI annotation of GRCm38

  41130 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:48482  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: spectrin, beta subunit
Gene Tree: Sptbn2

Human
homologs
Human Homolog SPTBN2, spectrin, beta, non-erythrocytic 2
NCBI Gene ID 6712
neXtProt AC  NX_O15020
Human Synonyms  GTRAP41, SCA5, SCAR14
Human Chr (Location)  11q13; chr11:66683428-66729241 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human SPTBN2
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(3) Targeted(3)
Incidental mutations (data from APF )
 
Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing rate in surviving Purkinje cells.
 
Human Diseases Modeled Using Mouse Sptbn2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Sptbn2 interacts with 144 markers (Mir7b, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process adult behavior, cerebellar Purkinje cell layer morphogenesis, ...
Component apical plasma membrane, extracellular space, ...
Function actin binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(120)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(120) cDNA(120)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000067889 (Evidence)
Entrez Gene20743 (Evidence)
UniGene329668
DFCITC1573107
DoTSDT.101351919, DT.103581529, DT.483800
NIA Mouse Gene IndexU038743
Consensus CDS ProjectCCDS29434.1
International Mouse Knockout Project StatusSptbn2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20743 NCBI Gene Model | MGI Sequence Detail 41130 C57BL/6J ±  kb
transcript NM_021287 RefSeq | MGI Sequence Detail 8254 C57BL/6 
polypeptide NP_067262 RefSeq | MGI Sequence Detail 2388 C57BL/6 

For the selected sequences
All sequences(31) RefSeq(8) UniProt(6)
Polymorphisms SNPs within 2kb(190 from dbSNP Build 137)
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:000015593 spectrin beta chain, non-erythrocytic 2
References (Earliest) J:42524 Stankewich MC, et al., A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. Proc Natl Acad Sci U S A. 1998 Nov 24;95(24):14158-63
(Latest) J:199579 Papal S, et al., The giant spectrin betaV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Hum Mol Genet. 2013 Sep 15;22(18):3773-88
All references(38)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory