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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
  • Gene Overview
    MyGene.info: SPTBN4
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:27356383-27447686 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 15.88 cM, cytoband A3
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    515 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890574
protein coding gene Chr7:27356383-27447704 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031910
protein coding gene Chr7:25999178-26101378 (-)
A/J MGP_AJ_G0031889
protein coding gene Chr7:25376307-25470895 (-)
AKR/J MGP_AKRJ_G0031819
protein coding gene Chr7:26045157-26150529 (-)
BALB/cJ MGP_BALBcJ_G0031894
protein coding gene Chr7:25595186-25688187 (-)
C3H/HeJ MGP_C3HHeJ_G0031616
protein coding gene Chr7:26430943-26526884 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032359
protein coding gene Chr7:26854449-26958917 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029411
protein coding gene Chr7:26610701-26703459 (-)
CAST/EiJ MGP_CASTEiJ_G0030951
protein coding gene Chr7:19735820-19836746 (-)
CBA/J MGP_CBAJ_G0031581
protein coding gene Chr7:28045334-28153104 (-)
DBA/2J MGP_DBA2J_G0031733
protein coding gene Chr7:25173759-25271007 (-)
FVB/NJ MGP_FVBNJ_G0031689
protein coding gene Chr7:25267302-25365405 (-)
LP/J MGP_LPJ_G0031813
protein coding gene Chr7:26327910-26435598 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031724
protein coding gene Chr7:27632397-27729617 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032390
protein coding gene Chr7:25587971-25684746 (-)
PWK/PhJ MGP_PWKPhJ_G0030675
protein coding gene Chr7:20211021-20306229 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030509
protein coding gene Chr7:16575976-16674736 (-)
WSB/EiJ MGP_WSBEiJ_G0031059
protein coding gene Chr7:25871984-25971193 (-)



Homology
more
  • Human Ortholog
    SPTBN4, spectrin beta, non-erythrocytic 4
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SPTBN4, spectrin beta, non-erythrocytic 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMND, NEDHND, QV, SPNB4, SPTBN3
  • Links
    NCBI Gene ID: 57731
    neXtProt AC: NX_Q9H254
    UniProt: Q9H254

  • Chr Location
    19q13.2; chr19:40467153-40576459 (+)  GRCh38.p7

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

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000011751 Ensembl Gene Model | MGI Sequence Detail 91304 C57BL/6J ±  kb
    transcript ENSMUST00000011895 Ensembl | MGI Sequence Detail 8747 Not Applicable  
    polypeptide ENSMUSP00000011895 Ensembl | MGI Sequence Detail 2561 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 18
      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 76
      Developmental Gene Expression 7
      Gene Ontology 15
      Phenotypes 37
    • Earliest
      J:167 Yoon CH, et al., Quivering, a new first Chromosome mutation in mice. J Hered. 1957;48:176-80
    • Latest
      J:263798 Saifetiarova J, et al., Reorganization of Destabilized Nodes of Ranvier in betaIV Spectrin Mutants Uncovers Critical Timelines for Nodal Restoration and Prevention of Motor Paresis. J Neurosci. 2018 Jul 11;38(28):6267-6282

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory