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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
  • Gene Overview
    MyGene.info: SPTBN2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr19:4711223-4752359 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41137 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 4.10 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SPTBN2, spectrin beta, non-erythrocytic 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SPTBN2, spectrin beta, non-erythrocytic 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GTRAP41, SCA5, SCAR14
  • Links
    NCBI Gene ID: 6712
    neXtProt AC: NX_O15020
    UniProt: O15020

  • Chr Location
    11q13.2; chr11:66682496-66729361 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Sptbn2 mouse models; 2 with human SPTBN2 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 3 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    17 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.
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
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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 20743 NCBI Gene Model | MGI Sequence Detail 41137 C57BL/6J ±  kb
    transcript NM_021287 RefSeq | MGI Sequence Detail 9894 C57BL/6  
    polypeptide NP_067262 RefSeq | MGI Sequence Detail 2388 C57BL/6  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      190 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 120
      cDNA 120

      Microarray probesets 3
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 7
      Diseases 4
      Gene Ontology 9
      Phenotypes 17
    • 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:261565 Stoller ML, et al., Domineering non-autonomy in Vangl1;Vangl2 double mutants demonstrates intercellular PCP signaling in the vertebrate inner ear. Dev Biol. 2018 May 1;437(1):17-26

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/16/2018
    MGI 6.12
    The Jackson Laboratory