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Szt2 Gene Detail
Summary
  • Symbol
    Szt2
  • Name
    seizure threshold 2
  • Synonyms
    MGC:69654
  • Feature Type
    protein coding gene
  • IDs
    MGI:3033336
    NCBI Gene: 230676
  • Gene Overview
    MyGene.info: SZT2
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:118362743-118409273 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 54.61 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    449 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3033336
protein coding gene Chr4:118362740-118409273 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028665
protein coding gene Chr4:119417603-119466378 (-)
A/J MGP_AJ_G0028626
protein coding gene Chr4:114784242-114831626 (-)
AKR/J MGP_AKRJ_G0028576
protein coding gene Chr4:117289341-117335660 (-)
BALB/cJ MGP_BALBcJ_G0028647
protein coding gene Chr4:115422067-115472470 (-)
C3H/HeJ MGP_C3HHeJ_G0028361
protein coding gene Chr4:118868726-118915332 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029088
protein coding gene Chr4:123975965-124029388 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026372
protein coding gene Chr4:108805470-108850941 (-)
CAST/EiJ MGP_CASTEiJ_G0027795
protein coding gene Chr4:116124227-116170893 (-)
CBA/J MGP_CBAJ_G0028328
protein coding gene Chr4:127379620-127434023 (-)
DBA/2J MGP_DBA2J_G0028476
protein coding gene Chr4:115395823-115442532 (-)
FVB/NJ MGP_FVBNJ_G0028444
protein coding gene Chr4:113914754-113961042 (-)
LP/J MGP_LPJ_G0028578
protein coding gene Chr4:119594550-119645365 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028471
protein coding gene Chr4:132270369-132318252 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029125
protein coding gene Chr4:118451641-118500721 (-)
PWK/PhJ MGP_PWKPhJ_G0027521
protein coding gene Chr4:112226104-112274306 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027344
protein coding gene Chr4:114754291-114799432 (-)
WSB/EiJ MGP_WSBEiJ_G0027874
protein coding gene Chr4:118347707-118396779 (-)



Homology
more
  • Human Ortholog
    SZT2, SZT2, KICSTOR complex subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SZT2, SZT2, KICSTOR complex subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B
  • Links
    NCBI Gene ID: 23334
    neXtProt AC: NX_Q5T011
    UniProt: Q5T011

  • Chr Location
    1p34.2; chr1:43389884-43454247 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human SZT2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 2 alleles in 6 genetic backgrounds
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for mutations in this gene display increased susceptibility to induced seizures. Mice homozygous for null mutations also display partial penetrance of prenatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033253 Ensembl Gene Model | MGI Sequence Detail 46531 C57BL/6J ±  kb
    transcript ENSMUST00000075406 Ensembl | MGI Sequence Detail 10965 Not Applicable  
    polypeptide ENSMUSP00000074862 Ensembl | MGI Sequence Detail 3431 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      cDNA 53
      Primer pair 4
      Other 1

      Microarray probesets 25
    Other
    Accession IDs
    less
    MGI:2686975, MGI:3708699
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 1
      Gene Ontology 8
      Phenotypes 15
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:241016 Peng M, et al., SZT2 dictates GATOR control of mTORC1 signalling. Nature. 2017 Mar 16;543(7645):433-437

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory