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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
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:30049395-30218175 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 17.44 cM
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1617 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98388
 protein coding gene Chr11:30049395-30218384 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018113
 protein coding gene Chr11:28133483-28308532 (-)
A/J MGP_AJ_G0018086
 protein coding gene Chr11:27087278-27255272 (-)
AKR/J MGP_AKRJ_G0018050
 protein coding gene Chr11:27977779-28147759 (-)
BALB/cJ MGP_BALBcJ_G0018055
 protein coding gene Chr11:27314355-27485770 (-)
C3H/HeJ MGP_C3HHeJ_G0017868
 protein coding gene Chr11:27888800-28061510 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018506
 protein coding gene Chr11:29102755-29278022 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016163
 protein coding gene Chr11:25693611-25860944 (-)
CAST/EiJ MGP_CASTEiJ_G0017430
 protein coding gene Chr11:27960662-28150043 (-)
CBA/J MGP_CBAJ_G0017841
 protein coding gene Chr11:30452221-30631995 (-)
DBA/2J MGP_DBA2J_G0017951
 protein coding gene Chr11:26951204-27119529 (-)
FVB/NJ MGP_FVBNJ_G0017945
 protein coding gene Chr11:26752162-26919292 (-)
LP/J MGP_LPJ_G0018023
 protein coding gene Chr11:28395097-28567424 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017969
 protein coding gene Chr11:31555071-31726564 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018547
 protein coding gene Chr11:28096931-28270815 (-)
PWK/PhJ MGP_PWKPhJ_G0017212
 protein coding gene Chr11:27040818-27214176 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017006
 protein coding gene Chr11:27781183-27962768 (-)
WSB/EiJ MGP_WSBEiJ_G0017482
 protein coding gene Chr11:27773474-27943601 (-)



Homology
more
  • Human Ortholog
    SPTBN1, spectrin beta, non-erythrocytic 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPTBN1, spectrin beta, non-erythrocytic 1
  • Synonyms
    betaSpII, DDISBA, 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
    39 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 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
    53
  • GO References
    14
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 population 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
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
    757
  • Tissues
    34
  • cDNA Data
    34
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020315 Ensembl Gene Model | MGI Sequence Detail 168781 C57BL/6J ±  kb
    transcript ENSMUST00000006629 Ensembl | MGI Sequence Detail 8461 Not Applicable  
    polypeptide ENSMUSP00000006629 Ensembl | MGI Sequence Detail 2363 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 37
      Primer pair 2
      Other 2

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-14540, MGD-MRK-14542, MGI:2144359, MGI:2444922
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 17
      Diseases 1
      Gene Ontology 14
      Phenotypes 39
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:322307 Cousin MA, et al., Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 Jul;53(7):1006-1021
    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
    11/22/2022
    MGI 6.22     		The Jackson Laboratory