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SZT2 seizure threshold 2 homolog (mouse) [ Homo sapiens (human) ]

Gene ID: 23334, updated on 8-May-2016
Official Symbol
SZT2provided by HGNC
Official Full Name
seizure threshold 2 homolog (mouse)provided by HGNC
Primary source
HGNC:HGNC:29040
See related
Ensembl:ENSG00000198198 HPRD:11085; MIM:615463; Vega:OTTHUMG00000007423
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SZT2A; SZT2B; EIEE18; C1orf84; KIAA0467
Summary
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]
Orthologs
Location:
1p34.2
Exon count:
76
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (43384830..43454247)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43855556..43919918)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 6734 Neighboring gene cell division cycle 20 Neighboring gene ELOVL fatty acid elongase 1 Neighboring gene mediator complex subunit 8 Neighboring gene microRNA 6735 Neighboring gene hydroxypyruvate isomerase (putative) Neighboring gene protein tyrosine phosphatase, receptor type F Neighboring gene lysine demethylase 4A Neighboring gene KDM4A antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ00408, FLJ10387, FLJ23425, FLJ34502, KIAA0467

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
corpus callosum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
pigmentation IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of superoxide dismutase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 
peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
protein SZT2
Names
RP11-506B15.1
seizure threshold 2 protein homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029091.1 RefSeqGene

    Range
    5001..69363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015284.3NP_056099.3  protein SZT2

    Status: REVIEWED

    Source sequence(s)
    AB007936, AK131107, AL139289, AL583862, BC051343, BF826848, BU633294, BX423490, DY655545
    Consensus CDS
    CCDS30694.2
    UniProtKB/Swiss-Prot
    Q5T011
    Related
    ENSP00000457168, OTTHUMP00000008578, ENST00000562955, OTTHUMT00000019517

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    43384830..43454247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541104.1XP_011539406.1  

  2. XM_011541103.1XP_011539405.1  

  3. XM_005270686.2XP_005270743.1  

  4. XM_006710501.2XP_006710564.1  

    See identical proteins and their annotated locations for XP_006710564.1

    UniProtKB/Swiss-Prot
    Q5T011
    Related
    ENSP00000489255, OTTHUMP00000281223, ENST00000634258, OTTHUMT00000488074
  5. XM_011541105.1XP_011539407.1  

    See identical proteins and their annotated locations for XP_011539407.1

  6. XM_011541106.1XP_011539408.1  

    See identical proteins and their annotated locations for XP_011539408.1

  7. XM_011541107.1XP_011539409.1  

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    43972005..44036286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001012960.1: Suppressed sequence

    Description
    NM_001012960.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001012961.1: Suppressed sequence

    Description
    NM_001012961.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_182518.2: Suppressed sequence

    Description
    NM_182518.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.