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Sptb Gene Detail
Summary
  • Symbol
    Sptb
  • Name
    spectrin beta, erythrocytic
  • Synonyms
    brain erythroid spectrin (235E), D330027P03Rik, LOC383567, spectrin R, Spnb-1, Spnb1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98387
    NCBI Gene: 20741
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:76627262-76757321 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 33.73 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3429 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98387
 protein coding gene Chr12:76627262-76757321 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019862
 protein coding gene Chr12:76713436-76844474 (-)
A/J MGP_AJ_G0019820
 protein coding gene Chr12:73789824-73918736 (-)
AKR/J MGP_AKRJ_G0019795
 protein coding gene Chr12:76028061-76158597 (-)
BALB/cJ MGP_BALBcJ_G0019799
 protein coding gene Chr12:74260844-74392849 (-)
C3H/HeJ MGP_C3HHeJ_G0019605
 protein coding gene Chr12:76484540-76616463 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020251
 protein coding gene Chr12:79051629-79185002 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017869
 protein coding gene Chr12:71129274-71260494 (-)
CAST/EiJ MGP_CASTEiJ_G0019156
 protein coding gene Chr12:71307253-71440757 (-)
CBA/J MGP_CBAJ_G0019575
 protein coding gene Chr12:82113458-82253724 (-)
DBA/2J MGP_DBA2J_G0019691
 protein coding gene Chr12:73636484-73765027 (-)
FVB/NJ MGP_FVBNJ_G0019678
 protein coding gene Chr12:72478322-72607512 (-)
LP/J MGP_LPJ_G0019763
 protein coding gene Chr12:76681536-76821174 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019717
 protein coding gene Chr12:85129036-85273298 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020287
 protein coding gene Chr12:75514010-75646185 (-)
PWK/PhJ MGP_PWKPhJ_G0018922
 protein coding gene Chr12:68016198-68174466 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018716
 protein coding gene Chr12:70019065-70154365 (-)
WSB/EiJ MGP_WSBEiJ_G0019208
 protein coding gene Chr12:76119710-76253788 (-)



Homology
more
  • Human Ortholog
    SPTB, spectrin beta, erythrocytic
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPTB, spectrin beta, erythrocytic
  • Synonyms
    EL3, HS2, HSPTB1, SPH2
  • Links
    NCBI Gene ID: 6710
    neXtProt AC: NX_P11277
    UniProt: P11277

  • Chr Location
    14q23.3; chr14:64746283-64879907 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SPTB associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 3 alleles in 5 genetic backgrounds
    1 images
    24 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.
Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly and jaundice and die within a few days of birth. Homozygotes for a knock-out allele show complete embryonic lethality before implantation. In vitro, embryos fail to hatch from the zona pellucida and die after 3 days in culture, never forming outgrowths.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    13
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
    740
  • Tissues
    6
  • cDNA Data
    50
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20741 NCBI Gene Model | MGI Sequence Detail 130060 C57BL/6J ±  kb
    transcript NM_013675 RefSeq | MGI Sequence Detail 10417 ZRU/MplStud  
    polypeptide P15508 UniProt | EBI | MGI Sequence Detail 2128 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 57
      Genomic 2
      cDNA 50
      Primer pair 1
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11515, MGD-MRK-14539, MGD-MRK-14541, MGI:2144894, MGI:2686147
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 8
      Gene Ontology 13
      Phenotypes 24
    • Earliest
      J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50(1):35-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory