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SECISBP2

Chr 9q22.2

SECIS binding protein 2

Aliases:
SBP2
MANE:
ENST00000375807.8

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hypothyroidism

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Hyperthyroidism

    BIALLELIC, autosomal or pseudoautosomal
  • Thoracic aortic aneurysm or dissection (GMS)

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

Disease associations (Open Targets)

  • thyroid hormone metabolism, abnormal 1

    0.79
  • thyroid hormone metabolism, abnormal

    0.65
  • thoracic aortic aneurysm

    0.37
  • poisoning

    0.26
  • hereditary disease

    0.19
  • nephrotic syndrome

    0.12
  • obesity disorder

    0.07
  • Obesity

    0.07
  • obesity due to melanocortin 4 receptor deficiency

    0.07
  • Insulin resistance

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Selenocysteine insertion sequence-binding protein 2

mRNA-binding protein that binds to the SECIS (selenocysteine insertion sequence) element present in the 3'-UTR of mRNAs encoding selenoproteins and facilitates the incorporation of the rare amino acid selenocysteine (PubMed:35709277). Insertion of selenocysteine at UGA codons is mediated by SECISBP2 and EEFSEC: SECISBP2 (1) specifically binds the SECIS sequence once the 80S ribosome encounters an in-frame UGA codon and (2) contacts the RPS27A/eS31 of the 40S ribosome before ribosome stalling (PubMed:35709277). (3) GTP-bound EEFSEC then delivers selenocysteinyl-tRNA(Sec) to the 80S ribosome and adopts a preaccommodated state conformation (PubMed:35709277). (4) After GTP hydrolysis, EEFSEC dissociates from the assembly, selenocysteinyl-tRNA(Sec) accommodates, and peptide bond synthesis and selenoprotein elongation occur (PubMed:35709277)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.