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Sptbn2 Gene Detail
Summary
  • Symbol
    Sptbn2
  • Name
    spectrin beta, non-erythrocytic 2
  • Synonyms
    Spnb3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1313261
    NCBI Gene: 20743
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:4761195-4802388 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 4.10 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    881 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1313261
 protein coding gene Chr19:4761195-4804006 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024670
 protein coding gene Chr19:1603803-1646144 (+)
A/J MGP_AJ_G0024636
 protein coding gene Chr19:1528826-1570005 (+)
AKR/J MGP_AKRJ_G0024609
 protein coding gene Chr19:1567514-1610726 (+)
BALB/cJ MGP_BALBcJ_G0024636
 protein coding gene Chr19:1518218-1561436 (+)
C3H/HeJ MGP_C3HHeJ_G0024404
 protein coding gene Chr19:1572240-1615018 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025083
 protein coding gene Chr19:1650623-1694008 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022513
 protein coding gene Chr19:1458414-1499709 (+)
CAST/EiJ MGP_CASTEiJ_G0023876
 protein coding gene Chr19:1588623-1630339 (+)
CBA/J MGP_CBAJ_G0024375
 protein coding gene Chr19:1728006-1768967 (+)
DBA/2J MGP_DBA2J_G0024503
 protein coding gene Chr19:1487039-1532308 (+)
FVB/NJ MGP_FVBNJ_G0024470
 protein coding gene Chr19:1514347-1557915 (+)
LP/J MGP_LPJ_G0024589
 protein coding gene Chr19:1608886-1649980 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024500
 protein coding gene Chr19:1633228-1674345 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025131
 protein coding gene Chr19:1566191-1607349 (+)
PWK/PhJ MGP_PWKPhJ_G0023622
 protein coding gene Chr19:1539026-1582142 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023427
 protein coding gene Chr19:1556594-1598054 (+)
WSB/EiJ MGP_WSBEiJ_G0023938
 protein coding gene Chr19:1560405-1603660 (+)



Homology
more
  • Human Ortholog
    SPTBN2, spectrin beta, non-erythrocytic 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPTBN2, spectrin beta, non-erythrocytic 2
  • Synonyms
    GTRAP41, SCA5, SCAR14
  • Links
    NCBI Gene ID: 6712
    neXtProt AC: NX_O15020
    UniProt: O15020

  • Chr Location
    11q13.2; chr11:66682496-66744682 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sptbn2 mouse models; 2 with human SPTBN2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 4 genetic backgrounds
    18 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.
Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    38
  • GO References
    11
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
less
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
    742
  • Tissues
    24
  • cDNA Data
    120
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000067889 Ensembl Gene Model | MGI Sequence Detail 41194 C57BL/6J ±  kb
    transcript ENSMUST00000008991 Ensembl | MGI Sequence Detail 8299 Not Applicable  
    polypeptide ENSMUSP00000008991 Ensembl | MGI Sequence Detail 2388 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 120
      cDNA 120

      Microarray probesets 3
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 16
      Diseases 3
      Gene Ontology 11
      Phenotypes 18
    • Earliest
      J:263494 Zagon IS, et al., Spectrin subtypes in mammalian brain: an immunoelectron microscopic study. J Neurosci. 1986 Oct;6(10):2977-86
    • Latest
      J:349011 Stansak KL, et al., PCP auto count: a novel Fiji/ImageJ plug-in for automated quantification of planar cell polarity and cell counting. Front Cell Dev Biol. 2024;12:1394031
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory