SECISBP2 SECIS binding protein 2
Gene ID: 79048, updated on 13-Apr-2024Gene type: protein coding
Also known as: SBP2; THMA1
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- Go to complete Gene record for SECISBP2
- Go to Variation Viewer for SECISBP2 variants
Summary
The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The recoding of UGA as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3' untranslated regions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elongation factor. Mutations in this gene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Thyroid hormone metabolism, abnormal 1 | See labs |
Genomic context
- Location:
- 9q22.2
- Sequence:
- Chromosome: 9; NC_000009.12 (89318500..89367117)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SECISBP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SECISBP2 homepage - LOVD - Australian Human Variome Project
- Variation ViewerRelated Variants
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