About   Help   FAQ
Sptbn1 Gene Detail
Summary
  • Symbol
    Sptbn1
  • Name
    spectrin beta, non-erythrocytic 1
  • Synonyms
    9930031C03Rik, beta fodrin, brain spectrin, elf1, elf3, non-erythrocytic, spectrin G, Spnb2, Spnb-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98388
    NCBI Gene: 20742
  • Gene Overview
    MyGene.info: SPTBN1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr11:30099395-30268175 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      168781 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 17.44 cM
  • Mapping Data
    12 experiments
Homology
more
  • Human Ortholog
    SPTBN1, spectrin beta, non-erythrocytic 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SPTBN1, spectrin beta, non-erythrocytic 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    betaSpII, ELF, HEL102, SPTB2
  • Links
    NCBI Gene ID: 6711
    neXtProt AC: NX_Q01082
    UniProt: Q01082

  • Chr Location
    2p16.2; chr2:54456317-54671446 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Sptbn1 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 4 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    30 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 inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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
    35
  • Tissues
    21
  • cDNA Data
    32
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000005341 VEGA Gene Model | MGI Sequence Detail 168781 C57BL/6J ±  kb
    transcript OTTMUST00000011917 VEGA | MGI Sequence Detail 8461 Not Applicable  
    polypeptide OTTMUSP00000005519 VEGA | MGI Sequence Detail 2363 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1617 from dbSNP Build 142
    • RFLP
      5
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 35
      Primer pair 2
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-14540, MGD-MRK-14542, MGI:2144359, MGI:2444922
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 12
      Phenotypes 30
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:240865 Amor V, et al., The paranodal cytoskeleton clusters Na+ channels at nodes of Ranvier. Elife. 2017 Jan 30;6
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    06/12/2018
    MGI 6.12     		The Jackson Laboratory