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Sptbn4 Gene Detail
Summary
  • Symbol
    Sptbn4
  • Name
    spectrin beta, non-erythrocytic 4
  • Synonyms
    1700022P15Rik, 5830426A08Rik, dyn, neuroaxonal dystrophy, nmf261, ROSA62, SpbIV, Spnb4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890574
    NCBI Gene: 80297
Location & Maps
more
  • Sequence Map
    Chr7:27356383-27447686 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      91304 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SPTBN4, spectrin beta, non-erythrocytic 4
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SPTBN4, spectrin beta, non-erythrocytic 4
    Orthology source: HomoloGene
  • Synonyms
    QV, SPNB4, SPTBN3
  • Links
    NCBI Gene ID: 57731
    neXtProt AC: NX_Q9H254

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 15 alleles in 18 genetic backgrounds
    1 images
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    61
  • Chemically induced (ENU)
    3
  • Gene trapped
    46
  • Spontaneous
    9
  • Targeted
    3
  • Incidental Mutations
    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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    521 from dbSNP Build 137
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    cDNA 17
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-11840, MGD-MRK-13741, MGD-MRK-9265, MGI:1922798, MGI:1923290, MGI:3514294, MGI:3589010, MGI:97840
References
more
  • Summaries
    All 68
    Developmental Gene Expression 6
    Gene Ontology 11
    Phenotypes 34
  • 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

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
02/02/2016
MGI 6.02
The Jackson Laboratory