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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; 1 western clawed frog

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; chr19:40467219-40576459 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(60) : Chemically induced (ENU)(3) Gene trapped(46) Spontaneous(9) Targeted(2)
Incidental mutations (data from APF )
 
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)
Interactions
Sptbn4 interacts with 161 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (48 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   Expression Atlas
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(70) RefSeq(12) UniProt(8)
Polymorphisms RFLP(1) : SNPs within 2kb(521 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
References (Earliest) J:167 Yoon CH, et al., Quivering, a new first Chromosome mutation in mice. J Hered. 1957;48:176-80
(Latest) J:201972 Kline CF, et al., betaIV-Spectrin and CaMKII facilitate Kir6.2 regulation in pancreatic beta cells. Proc Natl Acad Sci U S A. 2013 Oct 22;110(43):17576-81
All references(69)
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
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory