Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
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Biallelic SECISBP2 variants cause an inherited selenocysteine incorporation defect with a generalized effect on selenoprotein synthesis and abnormal thyroid hormone metabolism (reduced DIO2 activity).
"Because SBP2 is epistatic to selenoprotein synthesis, these defects had a generalized effect on selenoproteins."
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
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Compound heterozygous SECISBP2 defects reduce synthesis of most human selenoproteins and cause a multisystem disorder.
"These individuals have reduced synthesis of most of the 25 known human selenoproteins, resulting in a complex phenotype."
Identification and characterization of selenoprotein K: an antioxidant in cardiomyocytes.
An improved definition of the RNA-binding specificity of SECIS-binding protein 2, an essential component of the selenocysteine incorporation machinery.
SECIS-binding protein 2, a key player in selenoprotein synthesis, is an intrinsically disordered protein.
Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
A proteome-scale map of the human interactome network.
A reference map of the human binary protein interactome.
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
Functional characterization of alternatively spliced human SECISBP2 transcript variants.
Structure of the mammalian ribosome as it decodes the selenocysteine UGA codon.