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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SEPHS2
selenophosphate synthetase 2
Chromosome 16 · 16p11.2
NCBI Gene: 22928Ensembl: ENSG00000179918.19HGNC: HGNC:19686UniProt: Q99611
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
L-selenocysteine biosynthetic processprotein bindingcytoplasmselenide, water dikinase activityneurodegenerative diseaseatrial fibrillationcancerneoplasm
✦AI Summary

SEPHS2 (selenophosphate synthetase 2) is a critical enzyme in selenocysteine biosynthesis that catalyzes the formation of selenophosphate from selenide and ATP, providing the essential selenium donor for selenocysteine-tRNA synthesis 1. This enzyme plays a dual role in cellular function: supporting selenoprotein production while simultaneously detoxifying toxic selenide intermediates 2. SEPHS2 is particularly important for cancer cell survival, as malignant cells exhibit increased selenium uptake through the cystine/glutamate antiporter SLC7A11, making them dependent on SEPHS2 for selenide detoxification 2. The enzyme's expression is elevated in various cancers including breast cancer, multiple myeloma, and acute myeloid leukemia (AML), where it supports antioxidant function and prevents ferroptosis 234. In AML, SEPHS2 is regulated by an oncogenic enhancer and promotes selenoprotein production required for leukemic cell survival 4. The protein can interact with peroxiredoxin 6 (PRDX6) in an alternative selenium metabolism pathway independent of selenocysteine lyase 1. Recent research has also implicated SEPHS2 in neurodegenerative diseases, with genetic variants associated with subjective cognitive decline 5.

Sources cited
1
SEPHS2 catalyzes selenophosphate formation from selenide and ATP, and interacts with PRDX6 in alternative selenium metabolism
PMID: 39547224
2
SEPHS2 is essential for cancer cell survival by detoxifying selenide and is elevated in breast cancer samples
PMID: 32694795
3
SEPHS2 promotes multiple myeloma survival through selenoprotein synthesis and ROS regulation
PMID: 40750759
4
SEPHS2 is regulated by oncogenic enhancer in AML and required for leukemic cell growth
PMID: 35108519
5
SEPHS2 genetic variants are associated with subjective cognitive decline and neurodegenerative diseases
PMID: 40728933
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
gliomaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
steatosisOpen Targets
0.01Suggestive
Acute hepatic failureOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
serum lipopolysaccharide activityOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
readingOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SECISBP2Protein interaction100%PSTKProtein interaction99%SCLYProtein interaction98%SEPHS1Protein interaction94%TRNAU1APProtein interaction91%SEPSECSProtein interaction91%
Tissue Expression6 tissues
Liver
100%
Brain
11%
Lung
9%
Heart
8%
Bone Marrow
5%
Ovary
3%
Gene Interaction Network
Click a node to explore
SEPHS2SECISBP2PSTKSCLYSEPHS1TRNAU1APSEPSECS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99611
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.56 [0.36–0.89]
RankingsWhere SEPHS2 stands among ~20K protein-coding genes
  • #10,861of 20,598
    Most Researched36
  • #7,942of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedSEPHS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PRDX6 contributes to selenocysteine metabolism and ferroptosis resistance.
PMID: 39547224
Mol Cell · 2024
1.00
2
Selenium detoxification is required for cancer-cell survival.
PMID: 32694795
Nat Metab · 2020
0.90
3
Selenoprotein Gene Nomenclature.
PMID: 27645994
J Biol Chem · 2016
0.80
4
METTL5 regulates SEPHS2-mediated selenoprotein synthesis to promote multiple myeloma survival and progression.
PMID: 40750759
Cell Death Dis · 2025
0.70
5
SEPHguarding acute myeloid leukemia.
PMID: 35245465
Cell Stem Cell · 2022
0.60