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Sptbn4
Gene Detail
 Symbol
Name
ID
Sptbn4
spectrin beta, non-erythrocytic 4
MGI:1890574
Synonyms 1700022P15Rik, 5830426A08Rik, dyn, neuroaxonal dystrophy, nmf261, ROSA62, SpbIV, Spnb4
Feature Type protein coding gene
Genetic Map
Chromosome 7
15.88 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr7:27356383-27447686 bp, - strand
From VEGA annotation of GRCm38

  91304 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology 		HomoloGene:11879  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog

Protein SuperFamily: spectrin, beta subunit
Gene Tree: Sptbn4
Human
homologs
Human Homolog SPTBN4, spectrin, beta, non-erythrocytic 4
NCBI Gene ID 57731
neXtProt AC  NX_Q9H254
Human Synonyms  QV, SPNB4, SPTBN3
Human Chr (Location)  19q13.13; chr19:40973126-41082365 (+)  GRCh37.p10
Alleles
and
phenotypes 		All alleles(60) : Targeted(2) Gene trapped(46) Spontaneous(9) Chemically induced(3)
 
Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed.
 
Phenotype Images(1)
Gene Ontology
(GO)
classifications 		All GO classifications: (47 annotations)
Process adult behavior, adult walking behavior, ...
Component adherens junction, axon, ...
Function actin binding, ankyrin binding, ...
External Resources: FuncBase
Expression Literature Summary: (4 records)
Data Summary: Results (23)    Tissues (17)    Images (4)
Theiler Stages: 10, 15, 28
Assay TypeResults
RNA in situ 4
Northern blot 12
Western blot 6
RT-PCR 1
cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents 		All nucleic(18) cDNA(17) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000023763 (Evidence)
Ensembl Gene ModelENSMUSG00000011751 (Evidence)
Entrez Gene80297 (Evidence)
UniGene459123
DFCITC1584623, TC1591809, TC1686518
DoTSDT.40143223, DT.55139764, DT.55198566, DT.97397582, DT.97397584, DT.97397586
NIA Mouse Gene IndexU079737
Consensus CDS ProjectCCDS21019.1, CCDS57530.1
International Mouse Knockout Project StatusSptbn4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023763 VEGA Gene Model | MGI Sequence Detail 91304 C57BL/6J ±  kb
transcript OTTMUST00000058059 VEGA | MGI Sequence Detail 8747 Not Applicable 
polypeptide OTTMUSP00000028078 VEGA | MGI Sequence Detail 2561 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(8) UniProt(8)
Polymorphisms RFLP(1) : SNPs(302 from dbSNP Build 128)
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
References (Earliest) J:167 Yoon CH, et al., Quivering, a new first Chromosome mutation in mice. J Hered. 1957;48:176-80
(Latest) J:192539 Xu K, et al., Actin, spectrin, and associated proteins form a periodic cytoskeletal structure in axons. Science. 2013 Jan 25;339(6118):452-6
All references(67)
Other
accession IDs 		MGD-MRK-11840, MGD-MRK-13741, MGD-MRK-9265, MGI:1922798, MGI:1923290, MGI:3514294, MGI:3589010, MGI:97840
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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Send questions and comments to User Support. 		last database update
05/22/2013
MGI 5.13 		The Jackson Laboratory