SECISBP2
Selenocysteine insertion sequence-binding protein 2
Also known as: SBP2, SEBP2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96T21
- Gene
- SECISBP2
- Ensembl
- ENSG00000187742
- Chromosome
- 9
- Canonical length
- 854 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
854 residues, UniProt reviewed canonical sequence.
>Q96T21|SECISBP2
1 MASEGPREPE SEGIKLSADV KPFVPRFAGL NVAWLESSEA CVFPSSAATY YPFVQEPPVT
61 EQKIYTEDMA FGASTFPPQY LSSEITLHPY AYSPYTLDST QNVYSVPGSQ YLYNQPSCYR
121 GFQTVKHRNE NTCPLPQEMK ALFKKKTYDE KKTYDQQKFD SERADGTISS EIKSARGSHH
181 LSIYAENSLK SDGYHKRTDR KSRIIAKNVS TSKPEFEFTT LDFPELQGAE NNMSEIQKQP
241 KWGPVHSVST DISLLREVVK PAAVLSKGEI VVKNNPNESV TANAATNSPS CTRELSWTPM
301 GYVVRQTLST ELSAAPKNVT SMINLKTIAS SADPKNVSIP SSEALSSDPS YNKEKHIIHP
361 TQKSKASQGS DLEQNEASRK NKKKKEKSTS KYEVLTVQEP PRIEDAEEFP NLAVASERRD
421 RIETPKFQSK QQPQDNFKNN VKKSQLPVQL DLGGMLTALE KKQHSQHAKQ SSKPVVVSVG
481 AVPVLSKECA SGERGRRMSQ MKTPHNPLDS SAPLMKKGKQ REIPKAKKPT SLKKIILKER
541 QERKQRLQEN AVSPAFTSDD TQDGESGGDD QFPEQAELSG PEGMDELIST PSVEDKSEEP
601 PGTELQRDTE ASHLAPNHTT FPKIHSRRFR DYCSQMLSKE VDACVTDLLK ELVRFQDRMY
661 QKDPVKAKTK RRLVLGLREV LKHLKLKKLK CVIISPNCEK IQSKGGLDDT LHTIIDYACE
721 QNIPFVFALN RKALGRSLNK AVPVSVVGIF SYDGAQDQFH KMVELTVAAR QAYKTMLENV
781 QQELVGEPRP QAPPSLPTQG PSCPAEDGPP ALKEKEEPHY IEIWKKHLEA YSGCTLELEE
841 SLEASTSQMM NLNLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SECISBP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.61
- Highest tissue expression
- 64 nTPM
Expression across tissuesHPA
Tissue
- testis: 64 nTPM
- retina: 45 nTPM
- skeletal muscle: 39 nTPM
- ovary: 39 nTPM
- pancreas: 39 nTPM
- spleen: 33 nTPM
Single-cell type
- late spermatids: 698 nCPM
- late primary spermatocytes: 460 nCPM
- early primary spermatocytes: 362 nCPM
- early spermatids: 303 nCPM
- platelets: 288 nCPM
- differentiating spermatogonia: 263 nCPM
Immune cell
- neutrophil: 23 nTPM
- basophil: 17 nTPM
- naive CD4 T-cell: 16 nTPM
- naive B-cell: 15 nTPM
- eosinophil: 15 nTPM
- memory B-cell: 14 nTPM
Brain region
- white matter: 64 nTPM
- choroid plexus: 61 nTPM
- cerebellum: 53 nTPM
- hypothalamus: 52 nTPM
- basal ganglia: 52 nTPM
- thalamus: 49 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SECISBP2.
Disease | AllUniProt
Conditions SECISBP2 is implicated in, by any mechanism.
- Thyroid hormone metabolism, abnormal, 1 (THMA1) MIM:609698
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 178 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Thyroid hormone metabolism, abnormal 1
- SECISBP2-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.03
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.01
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- forebrain neuron development
- mRNA stabilization
- negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- RNA catabolic process
- selenocysteine incorporation
- striatum development
Molecular functions
- DNA binding
- mRNA 3'-UTR binding
- ribonucleoprotein complex binding
- RNA binding
- selenocysteine insertion sequence binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SECISBP2 as an antibody target. Whether an autoantibody or antibody against SECISBP2 could matter depends on whether native SECISBP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SECISBP2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SECISBP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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