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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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 46.74 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1121 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104745
 protein coding gene Chr11:77821403-77869874 (+)
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
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    7 phenotypes from multigenic genotypes
    18 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
less
  • All GO Annotations
    29
  • GO References
    6
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
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
    902
  • Tissues
    115
  • cDNA Data
    120
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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 53
      Developmental Gene Expression 9
      Gene Ontology 6
      Phenotypes 18
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • 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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory