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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
Location & Maps
more
  • Sequence Map
    Chr4:118362743-118409273 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46531 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 54.61 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SZT2, seizure threshold 2 homolog (mouse)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SZT2, seizure threshold 2 homolog (mouse)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B
  • Links
    NCBI Gene ID: 23334
    neXtProt AC: NX_Q5T011

  • Chr Location
    1p34.2; chr1:43384830-43454247 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SZT2 associations

Human Disease Mouse Models
       Epileptic Encephalopathy, Early Infantile, 18; EIEE18   OMIM: 615476
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 6 genetic backgrounds
    13 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.
  • All Mutations and Alleles
    10
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    3
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    4 involving Szt2
  • Incidental Mutations
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
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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 OTTMUSG00000008774 VEGA Gene Model | MGI Sequence Detail 46531 C57BL/6J ±  kb
transcript OTTMUST00000019936 VEGA | MGI Sequence Detail 10965 Not Applicable  
polypeptide OTTMUSP00000009149 VEGA | MGI Sequence Detail 3431 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    449 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 56
    cDNA 52
    Primer pair 4

    Microarray probesets 25
Other
Accession IDs
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MGI:2686975, MGI:3708699
References
more
  • Summaries
    All 30
    Developmental Gene Expression 1
    Gene Ontology 3
    Phenotypes 13
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

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
11/29/2016
MGI 6.06
The Jackson Laboratory