SECISBP2
Selenocysteine Insertion Sequence Binding Protein 2
Gene Information Card
| Symbol | SECISBP2 |
|---|---|
| Full Name | Selenocysteine Insertion Sequence Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 79048 ncbi.nlm.nih.gov/gene/79048 |
| Ensembl ID | ENSG00000106829 |
| UniProt ID | Q96T21 |
| OMIM ID | 607693 |
| HGNC ID | 30997 |
| Aliases | SBP2, SECIS binding protein 2 |
Description
SECISBP2 encodes a protein that binds to the selenocysteine insertion sequence (SECIS) element in the 3' untranslated region of selenoprotein mRNAs. This binding is essential for the recoding of the UGA stop codon as selenocysteine, enabling the synthesis of selenoproteins, which are critical for antioxidant defense, thyroid hormone metabolism, and redox regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| SECISBP2 deficiency | Loss-of-function mutations impair selenoprotein synthesis, leading to reduced selenoenzyme activity (e.g., GPX, TXNRD, DIO2). | ClinVar, OMIM |
| Abnormal thyroid hormone metabolism | Deficient deiodinase selenoproteins cause elevated T4 and low T3 levels. | OMIM, PubMed |
| Growth retardation | Impaired antioxidant selenoproteins affect cellular growth and development. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Liver | 8.2 | Medium |
| Kidney | 7.1 | Low |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | High expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 7.5 | Moderate expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.358C>T (p.Arg120*) | Nonsense | Rare | Premature stop, loss of SECIS binding |
| c.1529G>A (p.Arg510Gln) | Missense | Rare | Reduced SECIS binding affinity |
| c.1966C>T (p.Arg656Trp) | Missense | Rare | Impaired selenoprotein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, reducing or abolishing SECIS binding and selenoprotein production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • selenocysteine insertion sequence binding |
| • mRNA 3'-UTR binding | • regulation of translation |
| • selenocysteine incorporation |
Pathways
• Selenocysteine synthesis and incorporation
• Selenoprotein metabolism
• Thyroid hormone synthesis and metabolism
Protein Summary
SECISBP2 (SBP2) is a 854-amino acid protein that specifically binds to SECIS elements in selenoprotein mRNAs. It recruits the selenocysteine-specific elongation factor and tRNA to the ribosome, allowing UGA recoding. The protein contains a central RNA-binding domain and is localized in the nucleus and cytoplasm. Mutations cause multisystem disorders including thyroid dysfunction, growth delay, and increased oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SECISBP2L Knockout HEK293 Cell Line | EDJ-KQ6716 | Human | 9728 | Details Get a Quote |
| SECISBP2 Knockout HEK293 Cell Line | EDJ-KQ12209 | Human | 79048 | Details Get a Quote |
| SECISBP2L Knockout A-549 Cell Line | EDJ-KQ31088 | Human | 9728 | Details Get a Quote |
| SECISBP2L Knockout HCT 116 Cell Line | EDJ-KQ31089 | Human | 9728 | Details Get a Quote |
| SECISBP2L Knockout HeLa Cell Line | EDJ-KQ31090 | Human | 9728 | Details Get a Quote |
| SECISBP2 Knockout A-549 Cell Line | EDJ-KQ40944 | Human | 79048 | Details Get a Quote |
| SECISBP2 Knockout HCT 116 Cell Line | EDJ-KQ40945 | Human | 79048 | Details Get a Quote |
| SECISBP2 Knockout HeLa Cell Line | EDJ-KQ40946 | Human | 79048 | Details Get a Quote |
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