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Sez6 Gene Detail
Summary
  • Symbol
    Sez6
  • Name
    seizure related gene 6
  • Synonyms
    D11Bhm177e, sez-6
  • Feature Type
    protein coding gene
  • IDs
    MGI:104745
    NCBI Gene: 20370
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:77821626-77869874 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 46.74 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    91 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104745
protein coding gene Chr11:77821413-77869878 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018758
protein coding gene Chr11:78888526-78937694 (+)
A/J MGP_AJ_G0018724
protein coding gene Chr11:75883854-75931813 (+)
AKR/J MGP_AKRJ_G0018694
protein coding gene Chr11:78192851-78240738 (+)
BALB/cJ MGP_BALBcJ_G0018698
protein coding gene Chr11:76279705-76328085 (+)
C3H/HeJ MGP_C3HHeJ_G0018511
protein coding gene Chr11:78222655-78271922 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019149
protein coding gene Chr11:81359269-81407262 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016784
protein coding gene Chr11:72861738-72909940 (+)
CAST/EiJ MGP_CASTEiJ_G0018065
protein coding gene Chr11:78645416-78704814 (+)
CBA/J MGP_CBAJ_G0018481
protein coding gene Chr11:84908671-84958690 (+)
DBA/2J MGP_DBA2J_G0018590
protein coding gene Chr11:75468962-75517227 (+)
FVB/NJ MGP_FVBNJ_G0018580
protein coding gene Chr11:75050201-75099889 (+)
LP/J MGP_LPJ_G0018661
protein coding gene Chr11:79433207-79481937 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018606
protein coding gene Chr11:85354195-85402010 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019189
protein coding gene Chr11:78424257-78473168 (+)
PWK/PhJ MGP_PWKPhJ_G0017836
protein coding gene Chr11:76241830-76290928 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017627
protein coding gene Chr11:78026011-78075785 (+)
WSB/EiJ MGP_WSBEiJ_G0018118
protein coding gene Chr11:78234840-78286981 (+)



Homology
more
  • Human Ortholog
    SEZ6, seizure related 6 homolog
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SEZ6, seizure related 6 homolog
  • Synonyms
    BSRPC
  • Links
    NCBI Gene ID: 124925
    neXtProt AC: NX_Q53EL9
    UniProt: Q53EL9

  • Chr Location
    17q11.2; chr17:28954901-29006440 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    7 phenotypes from multigenic genotypes
    17 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.
Mice homozygous for a null allele exhibit increased short dendrites, decreased excitatory synaptic signaling, resistance to pharmacologically induces seizures, decreased activity and impaired learning and coordination.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000000632 Ensembl Gene Model | MGI Sequence Detail 48249 C57BL/6J ±  kb
    transcript ENSMUST00000093995 Ensembl | MGI Sequence Detail 4239 Not Applicable  
    polypeptide ENSMUSP00000091532 Ensembl | MGI Sequence Detail 991 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 131
      Genomic 3
      cDNA 122
      Primer pair 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-23995, MGD-MRK-28036
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 9
      Gene Ontology 6
      Phenotypes 17
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:331368 Hidaka C, et al., Differential brain expression pattern of Sez6 alternative splicing isoform with deleted transmembrane domain. Biochem Biophys Res Commun. 2022 Dec 25;636(Pt 2):128-132

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory