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

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
Human Chr (Location)		11q13; chr11:66452720-66488870 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SPTBN2

Alleles and phenotypes

All alleles(6) : Targeted(3) Gene trapped(3)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	adult behavior, cerebellar Purkinje cell layer morphogenesis, ...
Component	neuronal cell body, spectrin
Function	actin binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)
cDNA source data(120)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(120) cDNA(120)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000067889 (Evidence)
Entrez Gene	20743 (Evidence)
UniGene	329668
DFCI	TC1573107
DoTS	DT.101351919, DT.103581529, DT.483800
NIA Mouse Gene Index	U038743
Consensus CDS Project	CCDS29434.1
International Mouse Knockout Project Status	Sptbn2

Sequences

Length	Strain/Species
genomic	20743	NCBI Gene Model | MGI Sequence Detail	41130	C57BL/6J
transcript	NM_021287	RefSeq | MGI Sequence Detail	8254	C57BL/6
polypeptide	NP_067262	RefSeq | MGI Sequence Detail	2388	C57BL/6

All sequences(25) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(185 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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, brain 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:188122 Wishart TM, et al., Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo. PLoS Genet. 2012 Aug;8(8):e1002936
All references(34)