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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
Location & Maps
more
  • Sequence Map
    Chr19:4711223-4752360 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41138 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

  • Chr Location
    11q13.2; chr11:66682496-66729237 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Spinocerebellar Ataxia 5; SCA5   OMIM: 600224 View 3 models
       Spinocerebellar Ataxia, Autosomal Recessive 14; SCAR14   OMIM: 615386
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
    15 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.
  • All Mutations and Alleles
    8
  • Gene trapped
    3
  • Targeted
    4
  • Transgenic
    1
  • Incidental Mutations
    APF , CvDC
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
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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 20743 NCBI Gene Model | MGI Sequence Detail 41138 C57BL/6J ±  kb
transcript NM_021287 RefSeq | MGI Sequence Detail 8254 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 36
    Developmental Gene Expression 3
    Diseases 4
    Gene Ontology 6
    Phenotypes 15
  • Earliest
    J:42524 Stankewich MC, et al., A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. Proc Natl Acad Sci U S A. 1998 Nov 24;95(24):14158-63
  • Latest
    J:217667 May-Simera HL, et al., Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. Development. 2015 Feb 1;142(3):555-66

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory