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Sptb Gene Detail
Summary
  • Symbol
    Sptb
  • Name
    spectrin beta, erythrocytic
  • Synonyms
    brain erythroid spectrin (235E), D330027P03Rik, LOC383567, spectrin R, Spnb1, Spnb-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98387
    NCBI Gene: 20741
Location & Maps
more
  • Sequence Map
    Chr12:76580488-76710547 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      130060 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SPTB, spectrin beta, erythrocytic
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SPTB, spectrin beta, erythrocytic
    Orthology source: HomoloGene
  • Synonyms
    EL3, HS2, HSPTB1, SPH2
  • Links
    NCBI Gene ID: 6710
    neXtProt AC: NX_P11277

  • Chr Location
    14q23-q24.2; chr14:64746283-64879893 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Sptb mouse models; 1 with human SPTB associations

Human Disease Mouse Models
       Spectrin, Beta, Erythrocytic; SPTB   OMIM: 182870 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 2 alleles in 4 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    1 involving Sptb
  • Incidental Mutations
    APF
Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic.
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035470 VEGA Gene Model | MGI Sequence Detail 130060 C57BL/6J ±  kb
transcript OTTMUST00000090781 VEGA | MGI Sequence Detail 10394 Not Applicable  
polypeptide OTTMUSP00000049853 VEGA | MGI Sequence Detail 2329 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    770 from dbSNP Build 137
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 52
    Genomic 1
    cDNA 49
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-11515, MGD-MRK-14539, MGD-MRK-14541, MGI:2144894, MGI:2686147
References
more
  • Summaries
    All 65
    Developmental Gene Expression 5
    Diseases 4
    Gene Ontology 10
    Phenotypes 16
  • Earliest
    J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50:35-9
  • Latest
    J:186305 Stankewich MC, et al., Cell organization, growth, and neural and cardiac development require alphaII-spectrin. J Cell Sci. 2011 Dec 1;124(Pt 23):3956-66

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory