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, Spnb-2, Spnb2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98388
    NCBI Gene: 20742
  • Alliance
    genome feature 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
    4706 from dbSNP Build 142
  • Strain Annotations
    19
  • 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 ENSMUSG00200008828
 protein coding gene Chr11:27082827-27251596 (-)
A/J ENSMUSG00195013829
 protein coding gene Chr11:26973406-27141293 (-)
AKR/J ENSMUSG00220007765
 protein coding gene Chr11:27184104-27355233 (-)
BALB/cJ ENSMUSG00180007608
 protein coding gene Chr11:27003709-27171745 (-)
C3H/HeJ ENSMUSG00175015979
 protein coding gene Chr11:27002879-27173562 (-)
C57BL/6NJ ENSMUSG00215009549
 protein coding gene Chr11:26954066-27122847 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016163
 protein coding gene Chr11:25693611-25860944 (-)
CAST/EiJ ENSTCUG00005027617
 protein coding gene Chr11:26862981-27033028 (-)
CBA/J ENSMUSG00210009894
 protein coding gene Chr11:26959208-27130447 (-)
DBA/2J ENSMUSG00185018520
 protein coding gene Chr11:27059526-27227406 (-)
FVB/NJ ENSMUSG00205018576
 protein coding gene Chr11:27046410-27214322 (-)
JF1/MsJ ENSUMUG00000006786
 protein coding gene Chr11:27320885-27491580 (-)
LP/J ENSMUSG00230013559
 protein coding gene Chr11:28222057-28390101 (-)
NOD/ShiLtJ ENSMUSG00190022238
 protein coding gene Chr11:27191444-27362428 (-)
NZO/HlLtJ ENSMUSG00225021374
 protein coding gene Chr11:30147789-30322678 (-)
PWK/PhJ ENSLUMG00010017248
 protein coding gene Chr11:26975135-27145693 (-)
SPRET/EiJ ENSMSPG00010019420
 protein coding gene Chr11:27310687-27481158 (-)
WSB/EiJ ENSIUOG00005012927
 protein coding gene Chr11:27074150-27241994 (-)



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
    UniProt: Q01082

  • Chr Location
    2p16.2; chr2:54456288-54671446 (+)  GRCh38
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
    61 phenotypes from 4 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    46 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
    88
  • GO References
    18
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
    664
  • Tissues
    37
  • cDNA Data
    34
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 42
      cDNA 37
      Primer pair 3
      Other 2
      Antibodies 2

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-14540, MGD-MRK-14542, MGI:2144359, MGI:2444922
    References
    more
    • Summaries
      All 132
      Developmental Gene Expression 21
      Diseases 1
      Gene Ontology 18
      Phenotypes 46
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:389866 Kim JA, et al., HAP1 interaction with KCNQ4 attenuates channel surface expression and function. Mol Cells. 2026 Mar;49(3):100322
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory