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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

HCOP human homology predictions: SPTBN4
Protein SuperFamily: spectrin, beta subunit
Gene Tree: Sptbn4

Human
homologs
SPTBN4, spectrin, beta, non-erythrocytic 4
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 57731
neXtProt AC: NX_Q9H254

Human Synonyms: QV, SPNB4, SPTBN3

Human Chr (Location): 19q13.13; chr19:40466107-40576459 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(60) : Chemically induced (ENU)(3) Gene trapped(46) Spontaneous(9) Targeted(2)
Incidental mutations (data from APF , CvDC )
 
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: (6 records)
Data Summary: Results (23)    Tissues (17)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 4
Northern blot 12
Western blot 6
RT-PCR 1
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sptbn4    NEW 
Molecular
reagents
All nucleic(18) cDNA(17) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000023763 (Evidence)
Ensembl Gene Model ENSMUSG00000011751 (Evidence)
Entrez Gene 80297 (Evidence)
UniGene 459123
DFCI TC1591809, TC1584623, TC1686518
DoTS DT.97397582, DT.55198566, DT.55139764, DT.40143223, DT.97397584, DT.97397586
NIA Mouse Gene Index U079737
Consensus CDS Project CCDS21019.1, CCDS57530.1
International Mouse Phenotyping Consortium Status Sptbn4
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:219896 Zhang A, et al., Neurofascin 140 is an embryonic neuronal neurofascin isoform that promotes the assembly of the node of Ranvier. J Neurosci. 2015 Feb 4;35(5):2246-54
All references(70)
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
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory