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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:27055808-27147111 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 15.88 cM, cytoband A3
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2645 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890574
 protein coding gene Chr7:27055808-27147128 (-)
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
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPTBN4, spectrin beta, non-erythrocytic 4
  • Synonyms
    CMND, NEDHND, QV, SPNB4, SPTBN3
  • Links
    NCBI Gene ID: 57731
    neXtProt AC: NX_Q9H254
    UniProt: Q9H254

  • Chr Location
    19q13.2; chr19:40466241-40576464 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 15 alleles in 18 genetic backgrounds
    1 images
    48 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
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
neoplasm
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
less
  • All GO Annotations
    52
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    740
  • Tissues
    25
  • cDNA Data
    16
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    less
    MGD-MRK-11840, MGD-MRK-13741, MGD-MRK-9265, MGI:1922798, MGI:1923290, MGI:3514294, MGI:3589010, MGI:97840
    References
    more
    • Summaries
      All 92
      Developmental Gene Expression 10
      Gene Ontology 13
      Phenotypes 48
    • Earliest
      J:167 Yoon CH, et al., Quivering, a new first Chromosome mutation in mice. J Hered. 1957;48(4):176-80
    • Latest
      J:335021 Nassal DM, et al., Spectrin-Based Regulation of Cardiac Fibroblast Cell-Cell Communication. Cells. 2023 Feb 26;12(5)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory