About   Help   FAQ
Take the Alliance for Genomic Resources User Survey
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
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

  • Chr Location
    2p21; chr2:54456317-54671446 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Sptbn1 mouse models

Human Disease Mouse Models
       Beckwith-Wiedemann Syndrome; BWS   OMIM: 130650 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
    29 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
    47
  • Chemically induced (other)
    1
  • Gene trapped
    41
  • Targeted
    5
  • Genomic Mutations
    1 involving Sptbn1
  • Incidental Mutations
    APF , CvDC
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
    41
  • GO References
    12
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
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
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 85
    Developmental Gene Expression 14
    Diseases 1
    Gene Ontology 12
    Phenotypes 29
  • Earliest
    J:32042 Birkenmeier CS, et al., Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985 Sep;82(17):5671-5
  • Latest
    J:231375 Chen J, et al., TGF-beta/beta2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. J Clin Invest. 2016 Feb 1;126(2):527-42
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
09/13/2016
MGI 6.05 		The Jackson Laboratory