HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SECISBP2
SECIS binding protein 2
Chromosome 9 Β· 9q22.2
NCBI Gene: 79048Ensembl: ENSG00000187742.16HGNC: HGNC:30972UniProt: A0A1S5UZH3
72PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA bindingRNA bindingmRNA 3'-UTR bindingprotein bindingthyroid hormone metabolism, abnormal 1thyroid hormone metabolism, abnormalthoracic aortic aneurysmpoisoning
✦AI Summary

SECISBP2 (SECIS binding protein 2) is an mRNA-binding protein that facilitates selenocysteine (Sec) incorporation into selenoproteins by binding the SECIS element in the 3'-UTR of selenoprotein-encoding mRNAs 1. The protein specifically recognizes the SECIS sequence when the 80S ribosome encounters an in-frame UGA codon and contacts the 40S ribosomal protein eS31, enabling the Sec-specific elongation factor EEFSEC to deliver selenocysteinyl-tRNA(Sec) 1. Beyond its canonical role in translation recoding, SECISBP2 also stabilizes selenoprotein mRNAs through gene-specific mechanisms 2. Loss of SECISBP2 function results in systemic selenoprotein deficiency with multifactorial clinical consequences. Patients with SECISBP2 mutations develop early-onset aortic aneurysms through oxidative stress and vascular smooth muscle cell apoptosis 3, thyroid hormone metabolism defects due to reduced deiodinase expression 4, myopathy, photosensitivity, and hearing loss 5. In diffuse large B-cell lymphoma, elevated SECISBP2 expression correlates with poor prognosis and promotes chemotherapy resistance through enhanced GPX4 and TXNRD1 selenoprotein synthesis 6. SECISBP2 represents both a critical mediator of selenoprotein homeostasis and a potential therapeutic target in cancer and oxidative stress-related diseases 7.

Sources cited
1
SECISBP2 binds SECIS elements and facilitates Sec-tRNA delivery via interaction with eEFSec and ribosomal protein eS31
PMID: 35709277
2
SECISBP2 has dual roles in UGA codon recoding and mRNA stability/decay regulation
PMID: 27956496
3
SECISBP2 mutations cause early-onset aortic aneurysms through oxidative stress and VSMC apoptosis
PMID: 38042913
4
SECISBP2 deficiency impairs thyroid hormone metabolism by reducing deiodinase selenoprotein synthesis
PMID: 35126314
5
SECISBP2 mutations cause multisystemic selenoprotein deficiency with thyroid, bone, muscle, and hearing phenotypes
PMID: 34884733
6
SECISBP2 overexpression in DLBCL promotes chemotherapy resistance and poor prognosis via GPX4/TXNRD1 upregulation
PMID: 33077808
7
SECISBP2 is a positive regulator of selenoprotein expression with potential as a cancer prognostic biomarker and therapeutic target
PMID: 34935169
Disease Associationsβ“˜21
thyroid hormone metabolism, abnormal 1Open Targets
0.77Strong
thyroid hormone metabolism, abnormalOpen Targets
0.65Moderate
thoracic aortic aneurysmOpen Targets
0.37Weak
poisoningOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
nephrotic syndromeOpen Targets
0.11Weak
obesityOpen Targets
0.07Suggestive
Insulin resistanceOpen Targets
0.05Suggestive
breast benign neoplasmOpen Targets
0.05Suggestive
22q11.2 deletion syndromeOpen Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.03Suggestive
otosclerosisOpen Targets
0.03Suggestive
reticular dysgenesisOpen Targets
0.03Suggestive
retinitis pigmentosaOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
isolated hyperchlorhidrosisOpen Targets
0.03Suggestive
Thyroid hormone metabolism, abnormal, 1UniProt
Pathogenic Variants13
NM_024077.5(SECISBP2):c.589C>T (p.Arg197Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 197
NM_024077.5(SECISBP2):c.1156_1159del (p.Glu386fs)Pathogenic
Thyroid hormone metabolism, abnormal 1
β˜…β˜†β˜†β˜†2023β†’ Residue 386
NM_024077.5(SECISBP2):c.1473_1474del (p.Gly495fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 495
NM_024077.5(SECISBP2):c.2113+1G>TLikely pathogenic
SECISBP2-related disorder
β˜…β˜†β˜†β˜†2023
NM_024077.5(SECISBP2):c.1089+2T>CPathogenic
Thyroid hormone metabolism, abnormal 1
β˜…β˜†β˜†β˜†2023
NM_024077.5(SECISBP2):c.2308C>T (p.Arg770Ter)Pathogenic
Thyroid hormone metabolism, abnormal 1
β˜…β˜†β˜†β˜†2022β†’ Residue 770
NM_024077.5(SECISBP2):c.182+1G>ALikely pathogenic
Thyroid hormone metabolism, abnormal 1
β˜…β˜†β˜†β˜†2020
NM_024077.5(SECISBP2):c.358C>T (p.Arg120Ter)Pathogenic
Thyroid hormone metabolism, abnormal 1
β˜…β˜†β˜†β˜†2019β†’ Residue 120
NM_024077.5(SECISBP2):c.283del (p.Tyr95fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 95
NM_024077.5(SECISBP2):c.333T>G (p.Tyr111Ter)Likely pathogenic
SECISBP2-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 111
NM_024077.5(SECISBP2):c.800dup (p.Gly268_Glu269insTer)Pathogenic
Thyroid hormone metabolism, abnormal 1
β˜†β˜†β˜†β˜†2022β†’ Residue 268
NM_024077.5(SECISBP2):c.1212+29G>APathogenic
Thyroid hormone metabolism, abnormal 1
β˜†β˜†β˜†β˜†2005
NM_024077.5(SECISBP2):c.1312A>T (p.Lys438Ter)Pathogenic
Thyroid hormone metabolism, abnormal 1
β˜†β˜†β˜†β˜†2005β†’ Residue 438
View on ClinVar β†—
Related Genes
SECISBP2LShared pathway100%SEPSECSProtein interaction100%TRNAU1APProtein interaction100%SELENOPProtein interaction100%SEPHS2Protein interaction100%SELENOSProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
81%
Lung
66%
Liver
57%
Brain
53%
Heart
28%
Gene Interaction Network
Click a node to explore
SECISBP2SECISBP2LSEPSECSTRNAU1APSELENOPSEPHS2SELENOS
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZJW Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.01 [0.85–1.20]
RankingsWhere SECISBP2 stands among ~20K protein-coding genes
  • #6,584of 20,598
    Most Researched72
  • #2,597of 5,498
    Most Pathogenic Variants13
  • #12,586of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedSECISBP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
PMID: 38042913
Nat Commun Β· 2023
1.00
2
The emerging role of selenium metabolic pathways in cancer: New therapeutic targets for cancer.
PMID: 34935169
J Cell Biochem Β· 2022
0.90
3
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
PMID: 34884733
Int J Mol Sci Β· 2021
0.80
4
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.
PMID: 29709707
Free Radic Biol Med Β· 2018
0.70
5
SECISBP2 is a novel prognostic predictor that regulates selenoproteins in diffuse large B-cell lymphoma.
PMID: 33077808
Lab Invest Β· 2021
0.60