SELENOP
gene geneOn this page
Also known as SePSELPSEPP
Summary
SELENOP (selenoprotein P, HGNC:10751) is a protein-coding gene on chromosome 5p12, encoding Selenoprotein P (P49908). Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium.
This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3’ UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene.
Source: NCBI Gene 6414 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 31 total
- MANE Select transcript:
NM_005410
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10751 |
| Approved symbol | SELENOP |
| Name | selenoprotein P |
| Location | 5p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SeP, SELP, SEPP |
| Ensembl gene | ENSG00000250722 |
| Ensembl biotype | protein_coding |
| OMIM | 601484 |
| Entrez | 6414 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 6 retained_intron, 6 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000505309, ENST00000506078, ENST00000506577, ENST00000507920, ENST00000508937, ENST00000509276, ENST00000510650, ENST00000510965, ENST00000511224, ENST00000512980, ENST00000513303, ENST00000514218, ENST00000514403, ENST00000514985, ENST00000515626
RefSeq mRNA: 3 — MANE Select: NM_005410
NM_001085486, NM_001093726, NM_005410
CCDS: CCDS43311
Canonical transcript exons
ENST00000514985 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002045187 | 42811836 | 42811892 |
| ENSE00002075157 | 42799880 | 42801331 |
| ENSE00003463317 | 42808151 | 42808366 |
| ENSE00003585566 | 42804656 | 42804773 |
| ENSE00003653479 | 42806896 | 42807108 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 149.2317 / max 10203.7372, expressed in 1340 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 61503 | 147.6171 | 1336 |
| 61500 | 0.4142 | 167 |
| 61505 | 0.3224 | 144 |
| 61501 | 0.3017 | 133 |
| 61502 | 0.2568 | 110 |
| 61508 | 0.1199 | 45 |
| 61504 | 0.0858 | 44 |
| 61507 | 0.0594 | 27 |
| 61506 | 0.0544 | 8 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 99.95 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.90 | gold quality |
| superficial temporal artery | UBERON:0001614 | 99.89 | gold quality |
| parietal pleura | UBERON:0002400 | 99.87 | gold quality |
| pleura | UBERON:0000977 | 99.85 | gold quality |
| caput epididymis | UBERON:0004358 | 99.85 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.84 | gold quality |
| visceral pleura | UBERON:0002401 | 99.82 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.81 | gold quality |
| mammary duct | UBERON:0001765 | 99.80 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.80 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 99.79 | gold quality |
| corpus callosum | UBERON:0002336 | 99.79 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.79 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.79 | gold quality |
| skin of hip | UBERON:0001554 | 99.78 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 99.77 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.76 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.76 | gold quality |
| synovial joint | UBERON:0002217 | 99.75 | gold quality |
| gall bladder | UBERON:0002110 | 99.74 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.73 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.73 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.72 | gold quality |
| upper leg skin | UBERON:0004262 | 99.71 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.70 | gold quality |
| liver | UBERON:0002107 | 99.70 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.69 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.68 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.67 | gold quality |
Single-cell (SCXA)
Detected in 34 experiment(s), a significant marker in 30.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 9451.33 |
| E-CURD-112 | yes | 5803.48 |
| E-GEOD-125970 | yes | 5184.36 |
| E-MTAB-8322 | yes | 4984.74 |
| E-MTAB-8410 | yes | 4296.20 |
| E-MTAB-8221 | yes | 2746.91 |
| E-GEOD-84465 | yes | 2589.90 |
| E-CURD-126 | yes | 2513.35 |
| E-HCAD-4 | yes | 2421.62 |
| E-GEOD-75688 | yes | 2381.15 |
| E-MTAB-8530 | yes | 1454.88 |
| E-GEOD-180759 | yes | 1272.61 |
| E-HCAD-32 | yes | 691.42 |
| E-HCAD-1 | yes | 88.16 |
| E-HCAD-25 | yes | 63.47 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO1, FOXO3, HNF4A, MTA2, NR3C1, SMAD3, SMAD4, SP1
miRNA regulators (miRDB)
69 targeting SELENOP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
Literature-anchored findings (GeneRIF, showing 40)
- A DNA-repeat structure within the promoter contains a functionally relevant polymorphism and is genetically unstable under conditions of mismatch repair deficiency (PMID:12173025)
- selenoprotein P functions as a Se-supply protein, delivering Se to the cells (PMID:12423375)
- SePP-like immunoreactivity localizes to neurons and ependymal cells and thus appears strategically situated for maintenance and control of selenium-dependent anti-oxidative defense systems. (PMID:17245539)
- SePmRNA expression in the tissues of normal liver and hepatocellular carcinoma (HCC) is significantly different, suggesting that SeP might play a role in the occurrence and development of HCC. (PMID:17511039)
- Results reveal two common functional nucleotide polymorphisms within the human selenoprotein P gene that may predict behavior of biomarkers of selenium status and response to supplementation and thus susceptibility to disease. (PMID:17536041)
- Both non-glycosylated and partially glycosylated SeP is utilised as selenium donor by target cells. (PMID:17937618)
- local Sepp expression is required to maintain selenium content in selenium-privileged tissues such as brain and testis during dietary selenium restriction (PMID:17961124)
- selenoprotein P reduces lipid hydroperoxides and maintains the viability of myofibroblasts. a novel pathophysiologic function of myofibroblasts as a generator of lipid hydroperoxides, and a self-defense mechanism against self-generated oxidative stress. (PMID:17986007)
- Four variants in SEPP1 were significantly associated with advanced colorectal adenoma risk. (PMID:18483336)
- selenoprotein P expression was low in gastric adenocarcinoma tissues compared with control tissues (PMID:19215687)
- Data conclude that functional polymorphisms in the SEPP-1 gene influence the proportion of SePP isoforms in plasma. (PMID:19453253)
- The glucocorticoid receptor inhibits selenoprotein P transactivation via response elements; the finding provides insight into a potential mechanism of selenium redistribution during development. (PMID:19513589)
- In a study of 817 randomly selected adult Danes, the median selenoprotein P level in serum was 2.72 (2.18-3.49) mg/L. Serum selenoprotein P increased with age and was higher in men than in women. (PMID:19747622)
- Early decrease in Sel-P plasma concentrations was specifically observed in septic shock and was similar in SIRS patients whereas GPx activity remained unchanged. (PMID:19779296)
- tear SeP is a key molecule to protect the ocular surface cells against environmental oxidative stress (PMID:20360971)
- Our findings demonstrate that Selenoprotein P protects neuronal cells from amyloid beta-induced toxicity, suggesting a neuroprotective role for SelP in preventing neurodegenerative disorders. (PMID:20521393)
- Inflammation of the intestinal mucosa causes a decline in locally produced selenoprotein P in the colon that eventually may contribute to the emergence of inflammatory bowel disease-related colorectal cancer. (PMID:20542496)
- The present results show no significant difference in genotype and allele distribution of SNP r25191g/a between individuals with Kashin-Beck disease and controls. (PMID:20565998)
- These findings suggest an association between the individual selenoprotein concentration and the presence of diabetes. (PMID:20875901)
- Using serial analysis of gene expression and DNA chip methods, the study found that hepatic SeP mRNA levels correlated with insulin resistance in humans. (PMID:21035759)
- Selenoprotein P levels in prostate cells determine basal reactive-oxygen-species levels and H2O2-induced cytotoxicity. Deregulation of selenoprotein P during prostate carcinogenesis may increase free radicals, thus promoting tumor development. (PMID:21456065)
- Circulating SeP concentrations were elevated in patients with glucose metabolism dysregulation and were related to various cardiometabolic parameters including insulin resistance, inflammation, and atherosclerosis. (PMID:21677040)
- Circulating selenoprotein P levels were positively correlated with fasting plasma glucose and negatively associated with both total and high-molecular adiponectin in type 2 diabetics. (PMID:22496878)
- Selenium, selenoenzymes, oxidative stress and risk of neoplastic progression from Barrett’s esophagus: results from biomarkers and genetic variants. (PMID:22715394)
- hepatocellular SAM-dependent protein methylation is required for both SEPP1 and gluconeogenic enzyme expression and that inhibition of protein arginine methylation might provide a route to therapeutic interventions in type II diabetes. (PMID:22932905)
- Higher tumor grade and tumor stage at diagnosis correlated to lower SePP and Se concentrations. (PMID:23056383)
- SEPP1 genetic variation was associated with prostate cancer incidence; replication of these results in an independent dataset is necessary. (PMID:23129481)
- This study demonistrated that Sepp1 in midbrain was expressed in neurons of the substantia nigra (SN), and expression was concentrated within the centers of Lewy bodies, the pathological hallmark of Parkinson disease (PMID:23268326)
- We speculate that there could be a feedback regulation between hepatic Sepp1 and pancreatic insulin and that increased circulating Sepp1 might be the result rather than the cause of abnormal glucose metabolism.[Review] (PMID:23760059)
- These results demonstrate that SEPP1 represents a previously unrecognized regulator of Polychlorinated biphenyl-induced biological effects. (PMID:23770201)
- The data provide evidence that single nucleotide polymorphisms in SEPP1 and GPX1 modulate risk of breast cancer. (PMID:24039907)
- AMPK activators ameliorated carrageenan-induced insulin resistance via SeP inhibition. (PMID:24055274)
- Sepp1 secreted from epithelial cells may support the intestinal immune system by providing immune cells (including plasma cells) with selenium (PMID:24157689)
- Genetic variants in selenoprotein P plasma 1 gene (SEPP1) are associated with fasting insulin and first phase insulin response in Hispanics (PMID:24161883)
- metformin decreases binding of FoxO3a, a direct target of AMPK, to the SEPP1 promoter. (PMID:24257750)
- data suggest that SEPP1 alters breast cancer risk among women with higher levels of NA ancestry (PMID:24278290)
- SePP is not only involved in Selenium transport to testes supporting GPX4 biosynthesis but it also becomes secreted into seminal plasma. (PMID:24361887)
- The histidine-rich domain of selenoprotein P is capable of binding Cu ions in both oxidation states of Cu(+) and Cu(2+) with high affinity and of modulating Cu(+) and Cu(2+)-mediated ABETA aggregation, reactive oxygen species production, neurotoxicity. (PMID:24437729)
- SEPP1 rs7579 was found to be associated with lower risk of advanced prostate cancer. (PMID:24563517)
- Elevated SeP concentrations are independently associated with a reduced risk of MetS in children (PMID:24638201)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Selenop | ENSMUSG00000064373 |
| rattus_norvegicus | Selenop | ENSRNOG00000053086 |
Protein
Protein identifiers
Selenoprotein P — P49908 (reviewed: P49908)
All UniProt accessions (4): A0A182DWH7, A0A182DWH8, P49908, R4GMT5
UniProt curated annotations — full annotation on UniProt →
Function. Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis.
Subcellular location. Secreted.
Tissue specificity. Made in the liver and heart and secreted into the plasma. It is also found in the kidney.
Post-translational modifications. Phosphorylation sites are present in the extracellular medium.
Domain organisation. The C-terminus is not required for endocytic uptake in the proximal tubule epithelium.
Similarity. Belongs to the selenoprotein P family.
RefSeq proteins (3): NP_001078955, NP_001087195, NP_005401* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007671 | Selenoprotein-P_N | Domain |
| IPR007672 | SelP_C | Domain |
| IPR037941 | SeP | Family |
Pfam: PF04592, PF04593
UniProt features (32 total): non-standard amino acid 10, glycosylation site 6, sequence variant 5, sequence conflict 3, compositionally biased region 3, region of interest 2, signal peptide 1, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for P49908 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 266
Glycosylation sites (6): 46, 83, 119, 128, 174, 338
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-109582 | Hemostasis |
| R-HSA-76002 | Platelet activation, signaling and aggregation |
| R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
MSigDB gene sets: 679 (showing top):
VALK_AML_WITH_FLT3_ITD, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_BCELL_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, FREAC2_01, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_BEHAVIOR, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_DN, MODULE_255, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, XU_GH1_AUTOCRINE_TARGETS_UP
GO Biological Process (7): selenium compound metabolic process (GO:0001887), response to oxidative stress (GO:0006979), brain development (GO:0007420), locomotory behavior (GO:0007626), post-embryonic development (GO:0009791), response to selenium ion (GO:0010269), regulation of growth (GO:0040008)
GO Molecular Function (1): selenium binding (GO:0008430)
GO Cellular Component (5): extracellular region (GO:0005576), platelet dense granule lumen (GO:0031089), extracellular exosome (GO:0070062), obsolete extracellular space (GO:0005615), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Response to elevated platelet cytosolic Ca2+ | 1 |
| Hemostasis | 1 |
| Platelet activation, signaling and aggregation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| metabolic process | 1 |
| response to stress | 1 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| behavior | 1 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| response to chemical | 1 |
| growth | 1 |
| regulation of biological process | 1 |
| small molecule binding | 1 |
| secretory granule lumen | 1 |
| platelet dense granule | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1863 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SELENOP | GPX3 | P22352 | 892 |
| SELENOP | GPX2 | P18283 | 859 |
| SELENOP | SMCP | P49901 | 839 |
| SELENOP | LRP8 | Q14114 | 837 |
| SELENOP | SECISBP2 | Q96T21 | 828 |
| SELENOP | TXN | P10599 | 813 |
| SELENOP | SELENOK | Q9Y6D0 | 799 |
| SELENOP | SELENOF | O60613 | 782 |
| SELENOP | SELENOS | Q9BQE4 | 782 |
| SELENOP | SELENOW | P63302 | 779 |
| SELENOP | SELENOM | Q8WWX9 | 736 |
| SELENOP | SEPHS2 | Q99611 | 728 |
| SELENOP | SELENON | Q9NZV5 | 723 |
| SELENOP | SELENOT | P62341 | 721 |
| SELENOP | TXNRD1 | Q16881 | 721 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EGFR | SELENOP | psi-mi:“MI:0915”(physical association) | 0.550 |
| SELENOP | EGFR | psi-mi:“MI:0915”(physical association) | 0.550 |
| LECT2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| CD5L | psi-mi:“MI:0915”(physical association) | 0.400 | |
| SELENOP | psi-mi:“MI:0915”(physical association) | 0.370 | |
| SELENOP | psi-mi:“MI:0915”(physical association) | 0.370 | |
| SELENOP | EP300 | psi-mi:“MI:0915”(physical association) | 0.370 |
| S | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| SELENOP | glgA | psi-mi:“MI:0915”(physical association) | 0.000 |
| rpoC | SELENOP | psi-mi:“MI:0915”(physical association) | 0.000 |
| SELENOP | psi-mi:“MI:0915”(physical association) | 0.000 | |
| SELENOP | mnmE | psi-mi:“MI:0915”(physical association) | 0.000 |
| SELENOP | psi-mi:“MI:0915”(physical association) | 0.000 | |
| SELENOP | YPMT1.25Ac | psi-mi:“MI:0915”(physical association) | 0.000 |
| SELENOP | mtfA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): SEPP1 (Affinity Capture-MS), SEPP1 (Two-hybrid), SEPP1 (Reconstituted Complex), SEPP1 (PCA), SEPP1 (Two-hybrid), SEPP1 (Two-hybrid), SEPP1 (Two-hybrid)
ESM2 similar proteins: A1A5Q6, A6NF34, A6NNT2, B0BF33, D3ZF92, O43278, O75509, O88393, P08920, P08921, P25236, P26342, P35054, P49907, P49908, P51843, P70274, P70503, P79386, Q03167, Q05469, Q13342, Q1LVK9, Q4JF29, Q4R7B7, Q5F378, Q5QGU6, Q5R8W9, Q61066, Q6AY06, Q6P7C7, Q6S545, Q8BHP7, Q8BVM2, Q8VHF2, Q91ZV2, Q921T2, Q96PD2, Q99P91, Q99PS8
Diamond homologs: P25236, P49907, P49908, P70274, Q5R8W9, Q98SV0, Q98SV1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
839 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:42801330:GT:G | acceptor_gain | 1.0000 |
| 5:42808153:AGATG:A | donor_gain | 1.0000 |
| 5:42808270:A:AC | donor_gain | 1.0000 |
| 5:42808271:C:CC | donor_gain | 1.0000 |
| 5:42811830:A:AC | donor_gain | 1.0000 |
| 5:42811831:C:CC | donor_gain | 1.0000 |
| 5:42811834:A:AC | donor_gain | 1.0000 |
| 5:42811835:C:CC | donor_gain | 1.0000 |
| 5:42811835:CA:C | donor_gain | 1.0000 |
| 5:42811835:CACAA:C | donor_gain | 1.0000 |
| 5:42801328:GAGT:G | acceptor_gain | 0.9900 |
| 5:42801330:GTC:G | acceptor_loss | 0.9900 |
| 5:42801332:C:CC | acceptor_gain | 0.9900 |
| 5:42801332:CTGG:C | acceptor_loss | 0.9900 |
| 5:42801333:T:C | acceptor_loss | 0.9900 |
| 5:42808149:A:AC | donor_gain | 0.9900 |
| 5:42808150:C:CC | donor_gain | 0.9900 |
| 5:42811831:CT:C | donor_loss | 0.9900 |
| 5:42811832:T:TC | donor_loss | 0.9900 |
| 5:42811834:A:T | donor_loss | 0.9900 |
| 5:42811835:C:CA | donor_loss | 0.9900 |
| 5:42811835:CACA:C | donor_gain | 0.9900 |
| 5:42811860:T:TA | donor_gain | 0.9900 |
| 5:42801338:CAAA:C | acceptor_loss | 0.9800 |
| 5:42806925:T:TA | donor_gain | 0.9800 |
| 5:42808154:G:C | donor_gain | 0.9800 |
| 5:42808367:C:G | acceptor_loss | 0.9800 |
| 5:42808368:T:G | acceptor_loss | 0.9800 |
| 5:42811830:AC:A | donor_loss | 0.9800 |
| 5:42811833:TAC:T | donor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000553014 (5:42809359 C>T), RS1000650294 (5:42800588 A>T), RS1000901689 (5:42809703 G>A,C,T), RS1001221319 (5:42805880 A>C,G), RS1001264312 (5:42813450 G>C), RS1001924939 (5:42801814 G>C), RS1001961792 (5:42801260 C>T), RS1002169245 (5:42807657 T>C), RS1002595635 (5:42804781 A>C,G), RS1003316300 (5:42804351 C>A), RS1003597775 (5:42803372 C>G), RS1003651574 (5:42802962 A>T), RS1004422883 (5:42799952 T>C), RS1004578878 (5:42806484 T>C), RS1004665931 (5:42806989 G>A)
Disease associations
OMIM: gene MIM:601484 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012227_1346 | Hip circumference adjusted for BMI | 1.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs6136 | SELP | 0.00 | 0 |
CTD chemical–gene interactions
98 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 6 |
| Estradiol | affects expression, affects cotreatment, decreases expression, increases expression | 5 |
| Sodium Selenite | decreases reaction, increases secretion, affects cotreatment, decreases expression, increases expression | 5 |
| Selenium | affects reaction, affects response to substance, affects binding, increases abundance, increases expression (+1 more) | 4 |
| methylmercuric chloride | decreases expression | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance | 3 |
| Mercury | increases abundance, affects abundance, affects binding, decreases response to substance, increases expression | 3 |
| Nickel | affects binding, decreases expression | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression, increases expression | 3 |
| Particulate Matter | decreases expression, increases abundance | 3 |
| sodium arsenite | decreases expression, increases expression, affects cotreatment | 2 |
| cupric chloride | decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | affects cotreatment, increases expression | 2 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression, decreases expression | 2 |
| Resveratrol | decreases reaction, increases expression, affects cotreatment, decreases expression | 2 |
| Arsenic Trioxide | increases expression, decreases expression | 2 |
| Vorinostat | increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Dexamethasone | affects cotreatment, increases expression | 2 |
| Ozone | increases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Dihydrotestosterone | increases expression, decreases reaction | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Metribolone | increases expression, decreases reaction | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1QG | Abcam K-562 SELENOP KO | Cancer cell line | Female |
| CVCL_D2M2 | Abcam Raji SELENOP KO | Cancer cell line | Male |
| CVCL_WQ50 | Abcam Jurkat SELENOP KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.