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Aliases for SZT2 Gene

Aliases for SZT2 Gene

  • Seizure Threshold 2 Homolog (Mouse) 2 3
  • KIAA0467 2 3 4 6
  • Seizure Threshold 2 Protein Homolog 3 4
  • C1orf84 3 4
  • EIEE18 3 6
  • Seizure Threshold 2 Homolog A (Mouse) 2
  • Seizure Threshold 2 Homolog B (Mouse) 2
  • Chromosome 1 Open Reading Frame 84 2
  • RP11-506B15.1 3
  • Protein SZT2 3
  • SZT2A 3
  • SZT2B 3

External Ids for SZT2 Gene

Previous HGNC Symbols for SZT2 Gene

  • C1orf84
  • KIAA0467

Previous GeneCards Identifiers for SZT2 Gene

  • GC01P043890

Summaries for SZT2 Gene

Entrez Gene Summary for SZT2 Gene

  • The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]

GeneCards Summary for SZT2 Gene

SZT2 (Seizure Threshold 2 Homolog (Mouse)) is a Protein Coding gene. Diseases associated with SZT2 include epileptic encephalopathy, early infantile, 18 and early infantile epileptic encephalopathy without suppression burst.

UniProtKB/Swiss-Prot for SZT2 Gene

  • Involved in oxidative stress. May be involved in superoxide dismutase activity and in neuroprotective effect of peroxisomes, but has no direct dismutase activity when tested in yeast. May enhance epileptogenesis and confer low seizure threshold (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SZT2 Gene

Genomics for SZT2 Gene

Genomic Location for SZT2 Gene

Start:
43,389,882 bp from pter
End:
43,454,247 bp from pter
Size:
64,366 bases
Orientation:
Plus strand

Genomic View for SZT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SZT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SZT2 Gene

No data available for Regulatory Elements for SZT2 Gene

Proteins for SZT2 Gene

  • Protein details for SZT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T011-SZT2_HUMAN
    Recommended name:
    Protein SZT2
    Protein Accession:
    Q5T011
    Secondary Accessions:
    • A0PJK5
    • A7E2X4
    • O75055
    • Q5JUY7
    • Q5T012
    • Q5XKC7
    • Q6ZNI8
    • Q6ZT24
    • Q7Z636
    • Q8NAY9
    • Q9H5H7
    • Q9UFQ8

    Protein attributes for SZT2 Gene

    Size:
    3432 amino acids
    Molecular mass:
    378029 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH52802.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI51233.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15649.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC03755.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAC86771.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BF926328; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BF926328; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BU101724; Type=Frameshift; Positions=287; Evidence={ECO:0000305}; Sequence=CAI14886.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI23384.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SZT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SZT2 Gene

Proteomics data for SZT2 Gene at MOPED

Post-translational modifications for SZT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SZT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SZT2 Gene

Domains for SZT2 Gene

Protein Domains for SZT2 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for SZT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SZT2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SZT2 Gene

Function for SZT2 Gene

Molecular function for SZT2 Gene

UniProtKB/Swiss-Prot Function:
Involved in oxidative stress. May be involved in superoxide dismutase activity and in neuroprotective effect of peroxisomes, but has no direct dismutase activity when tested in yeast. May enhance epileptogenesis and confer low seizure threshold (By similarity).

Gene Ontology (GO) - Molecular Function for SZT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SZT2: view
genes like me logo Genes that share phenotypes with SZT2: view

Animal Model Products

CRISPR Products

miRNA for SZT2 Gene

miRTarBase miRNAs that target SZT2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SZT2 Gene

Localization for SZT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SZT2 Gene

Peroxisome.

Gene Ontology (GO) - Cellular Components for SZT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome ISS 20045724
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SZT2: view

No data available for Subcellular locations from COMPARTMENTS for SZT2 Gene

Pathways for SZT2 Gene

SuperPathways for SZT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SZT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007417 central nervous system development ISS --
GO:0009791 post-embryonic development ISS --
GO:0021540 corpus callosum morphogenesis IMP 23932106
GO:0043473 pigmentation IEA --
GO:1901668 regulation of superoxide dismutase activity ISS 20045724
genes like me logo Genes that share ontologies with SZT2: view

No data available for Pathways by source for SZT2 Gene

Transcripts for SZT2 Gene

Unigene Clusters for SZT2 Gene

Seizure threshold 2 homolog (mouse):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SZT2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SZT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31a · 31b · 31c ^ 32a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 32b ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for SZT2 Gene

GeneLoc Exon Structure for
SZT2
ECgene alternative splicing isoforms for
SZT2

Expression for SZT2 Gene

mRNA expression in normal human tissues for SZT2 Gene

Protein differential expression in normal tissues for SZT2 Gene

This gene is overexpressed in Blymphocyte (13.1), Peripheral blood mononuclear cells (12.7), Placenta (12.1), Ovary (9.3), Pancreas (6.5), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SZT2 Gene

SOURCE GeneReport for Unigene cluster for SZT2 Gene Hs.643560

mRNA Expression by UniProt/SwissProt for SZT2 Gene

Q5T011-SZT2_HUMAN
Tissue specificity: Expressed in the brain, predominantly in the parietal and frontal cortex, as well as in dorsal root ganglia. Expressed in peripheral white blood cells.
genes like me logo Genes that share expressions with SZT2: view

Expression partners for SZT2 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SZT2 Gene

Orthologs for SZT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SZT2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SZT2 35
  • 89.19 (n)
  • 93 (a)
SZT2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SZT2 35
  • 89.84 (n)
  • 94.07 (a)
SZT2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Szt2 35
  • 87.46 (n)
  • 92.09 (a)
Szt2 16
Szt2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SZT2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
chicken
(Gallus gallus)
Aves SZT2 35
  • 67.01 (n)
  • 67.42 (a)
SZT2 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SZT2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia szt2 35
  • 61.59 (n)
  • 62.7 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC571986 35
  • 60.91 (n)
  • 59.74 (a)
SZT2 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F54B3.1 36
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
-- 36
  • 33 (a)
OneToMany
Species with no ortholog for SZT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SZT2 Gene

ENSEMBL:
Gene Tree for SZT2 (if available)
TreeFam:
Gene Tree for SZT2 (if available)

Paralogs for SZT2 Gene

No data available for Paralogs for SZT2 Gene

Variants for SZT2 Gene

Sequence variations from dbSNP and Humsavar for SZT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs710249 -- 43,403,564(+) ACTTC(C/G)CTGAT intron-variant
rs839758 -- 43,396,487(+) ACTCT(A/G)CCAAC intron-variant
rs839759 -- 43,397,789(+) ctccc(A/G)aagtg intron-variant
rs839760 -- 43,397,824(+) acgcc(C/T)ggccC intron-variant
rs839761 -- 43,398,186(+) TTAAG(A/G)TGATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SZT2 Gene

Variant ID Type Subtype PubMed ID
esv2560782 CNV Deletion 19546169
esv2400702 CNV Deletion 18987734
esv3099 CNV Deletion 18987735
esv2747586 CNV Deletion 23290073
nsv159253 CNV Loss 16902084
esv5810 CNV Loss 19470904
esv2747597 CNV Deletion 23290073
nsv527798 CNV Loss 19592680
nsv438377 CNV Loss 16468122

Relevant External Links for SZT2 Gene

HapMap Linkage Disequilibrium report
SZT2
Human Gene Mutation Database (HGMD)
SZT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SZT2 Gene

Disorders for SZT2 Gene

(1) OMIM Diseases for SZT2 Gene (615463)

UniProtKB/Swiss-Prot

SZT2_HUMAN
  • Epileptic encephalopathy, early infantile, 18 (EIEE18) [MIM:615476]: A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging. {ECO:0000269 PubMed:23932106}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with SZT2: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for SZT2 Gene

Publications for SZT2 Gene

  1. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N. … Ohara O. (DNA Res. 1997) 2 3 4
  2. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E. … Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Bridging expressed sequence alignments through targeted cDNA sequencing. (PMID: 15028280) Xie H. … Gill-More R. (Genomics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SZT2 Gene

Sources for SZT2 Gene

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