SECISBP2 across dismech

SECISBP2 (SECIS binding protein 2) is named by 1 disorder entry, SECISBP2 Deficiency.

Normal function

ai-gene-review gives SECISBP2's core molecular function as selenocysteine insertion sequence binding, acting in selenocysteine incorporation. SBP2 binds the SECIS element in the 3' untranslated region of selenoprotein mRNAs and docks on the small ribosomal subunit so that an in-frame UGA codon is read as selenocysteine. The upstream gene review is being completed; changes made there reach this page only when the ingest layer is next refreshed.

Disease record

SECISBP2 Deficiency types the gene as causative and records the variants as germline. The gene sits on the node SECISBP2-dependent Sec incorporation defect, from which the pathograph runs through reduced synthesis of many selenoproteins to impaired thyroid hormone metabolism, oxidative-stress vulnerability and the other multisystem features of the disorder.

Where the layers agree and disagree

The KB annotates SECISBP2's mechanism node with selenocysteine incorporation, and shares selenocysteine incorporation with the ai-gene-review core functions by exact GO identifier, so the two layers agree on the process the disease disrupts.

ClinGen classifies SECISBP2 for 0 diseases, so the entry records no gene-disease validity tier.