SEC14L2
gene geneOn this page
Also known as TAPSPFKIAA1186KIAA1658TAP1
Summary
SEC14L2 (SEC14 like lipid binding 2, HGNC:10699) is a protein-coding gene on chromosome 22q12.2, encoding SEC14-like protein 2 (O76054). Carrier protein.
This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
Source: NCBI Gene 23541 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_012429
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10699 |
| Approved symbol | SEC14L2 |
| Name | SEC14 like lipid binding 2 |
| Location | 22q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TAP, SPF, KIAA1186, KIAA1658, TAP1 |
| Ensembl gene | ENSG00000100003 |
| Ensembl biotype | protein_coding |
| OMIM | 607558 |
| Entrez | 23541 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 7 protein_coding, 4 protein_coding_CDS_not_defined, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000402592, ENST00000405717, ENST00000415072, ENST00000416523, ENST00000428195, ENST00000429917, ENST00000437022, ENST00000452649, ENST00000459728, ENST00000464335, ENST00000483116, ENST00000484486, ENST00000485482, ENST00000615189, ENST00000617837, ENST00000619483, ENST00000620251
RefSeq mRNA: 4 — MANE Select: NM_012429
NM_001204204, NM_001291932, NM_012429, NM_033382
CCDS: CCDS13876, CCDS46685, CCDS56228
Canonical transcript exons
ENST00000615189 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003462307 | 30415948 | 30416087 |
| ENSE00003612747 | 30409426 | 30409486 |
| ENSE00003638388 | 30416234 | 30416403 |
| ENSE00003655660 | 30410596 | 30410679 |
| ENSE00003688973 | 30409187 | 30409282 |
| ENSE00003702644 | 30407415 | 30407603 |
| ENSE00003707262 | 30399643 | 30399718 |
| ENSE00003710623 | 30397018 | 30397170 |
| ENSE00003710944 | 30407095 | 30407154 |
| ENSE00003711319 | 30406342 | 30406385 |
| ENSE00003740809 | 30422277 | 30425303 |
| ENSE00003788454 | 30415759 | 30415865 |
Expression profiles
Bgee: expression breadth ubiquitous, 207 present calls, max score 96.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9195 / max 265.8515, expressed in 1524 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191679 | 11.1537 | 1497 |
| 191678 | 0.4635 | 252 |
| 191681 | 0.1819 | 91 |
| 191680 | 0.1204 | 49 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 96.90 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.22 | gold quality |
| liver | UBERON:0002107 | 91.99 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.76 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.53 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.41 | gold quality |
| amygdala | UBERON:0001876 | 89.88 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.83 | gold quality |
| caudate nucleus | UBERON:0001873 | 89.53 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.53 | gold quality |
| putamen | UBERON:0001874 | 89.34 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.32 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 89.20 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.10 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.75 | gold quality |
| spinal cord | UBERON:0002240 | 87.18 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 87.11 | gold quality |
| hypothalamus | UBERON:0001898 | 86.52 | gold quality |
| frontal cortex | UBERON:0001870 | 86.49 | gold quality |
| neocortex | UBERON:0001950 | 86.45 | gold quality |
| telencephalon | UBERON:0001893 | 85.85 | gold quality |
| forebrain | UBERON:0001890 | 85.28 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.88 | gold quality |
| corpus epididymis | UBERON:0004359 | 84.76 | gold quality |
| substantia nigra | UBERON:0002038 | 84.68 | gold quality |
| central nervous system | UBERON:0001017 | 84.28 | gold quality |
| brain | UBERON:0000955 | 84.19 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.17 | gold quality |
| Ammon’s horn | UBERON:0001954 | 84.02 | gold quality |
| sural nerve | UBERON:0015488 | 83.92 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.13 |
| E-ENAD-17 | no | 744.15 |
| E-CURD-10 | no | 434.73 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| PSMB9 | Unknown |
miRNA regulators (miRDB)
62 targeting SEC14L2, 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-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-132-3P | 99.73 | 70.56 | 1424 |
| HSA-MIR-212-3P | 99.73 | 70.65 | 1424 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-3975 | 99.62 | 65.97 | 697 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-4324 | 99.04 | 70.14 | 1569 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-3142 | 98.88 | 66.09 | 529 |
| HSA-MIR-1245B-5P | 98.88 | 66.55 | 576 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
Literature-anchored findings (GeneRIF, showing 18)
- SPF has two domain topology, and the ligand binding cavity has a peculiar horseshoe-like shape (PMID:12429094)
- phosphorylation enhances its ability to stimulate microsomal squalene monooxygenase; phosphorylation may provide a means for the rapid short term modulation of cholesterol synthesis (PMID:12454003)
- Data report the three-dimensional crystal structure of human supernatant protein factor in complex with RRR-alpha-tocopherylquinone, the major physiological oxidation product of RRR-alpha-tocopherol, at a resolution of 1.95A. (PMID:12972248)
- Discusses cloning of rat SEC14-like protein 3 and mentions three human SPF-related genes, known as SEC14-like protein 1, 2 and 3. (PMID:15033454)
- TAP not only mediates vitamin E absorption to facilitate vitamin E antiproliferation effect in prostate cancer cells, but also functions like a tumor suppressor gene to control cancer cell viability through a non-vitamin E manner. (PMID:16267002)
- reduced expression of TAP was associated with the cell proliferation status of prostate cancer, adverse pathological parameters and the increased risk of recurrence (PMID:17334589)
- Genetic variation in TTPA and SEC14L2 is associated with serum alpha-tocopherol but does not have a direct effect on prostate cancer when vitamin E is administered. (PMID:19190344)
- These findings are consistent with alpha-tocopherol-associated protein acting as an antiproliferative factor in estrogen-receptor-positive luminal cells in normal/benign breast tissue (PMID:19305383)
- Fndings raise the possibility that TAP/Sec14L2 may serve as a tumor suppressor in breast carcinogenesis. (PMID:19909011)
- novel association between the rs737723 polymorphism (SEC14L2/TAP) and higher primary open-angle glaucoma risk (PMID:23401652)
- TAP expression was significantly correlated with Her2/neu receptor expression and breast cancer stage. (PMID:23411208)
- hTAP1 reduces the in vitro activity of the phosphatidylinositol-3-kinase gamma (PI3Kgamma) indicating the formation of a stalled/inactive hTAP1/PI3Kgamma heterodimer. (PMID:24983950)
- PI3Kgamma-induced VEGF expression was reduced when the human tocopherol-associated protein 1 (hTAP1/SEC14L2) was overexpressed suggesting formation of an inactive PI3Kgamma/hTAP1 heterodimer. (PMID:25290554)
- SEC14L2 enabled RNA replication of diverse HCV genotypes in several human hepatoma cell lines (PMID:26266980)
- Here, the authors report that the zebrafish/human phosphatidylinositol transfer protein Sec14l3/SEC14L2 act as GTPase proteins to transduce Wnt signals from Frizzled to phospholipase C (PLC). (PMID:28463110)
- SEC14L2, a lipid-binding protein, regulates HCV replication in culture with inter- and intra-genotype variations. (PMID:30472319)
- Discovering master regulators in hepatocellular carcinoma: one novel MR, SEC14L2 inhibits cancer cells. (PMID:31851620)
- TAP-ing into the cross-presentation secrets of dendritic cells. (PMID:37116384)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sec14l7 | ENSDARG00000099633 |
| mus_musculus | Sec14l2 | ENSMUSG00000003585 |
| rattus_norvegicus | Sec14l2 | ENSRNOG00000004672 |
| drosophila_melanogaster | retm | FBGN0031814 |
| drosophila_melanogaster | CG13893 | FBGN0035146 |
| caenorhabditis_elegans | WBGENE00007925 | |
| caenorhabditis_elegans | WBGENE00009241 | |
| caenorhabditis_elegans | ctg-1 | WBGENE00010370 |
| caenorhabditis_elegans | WBGENE00011962 |
Paralogs (6): SEC14L3 (ENSG00000100012), SEC14L5 (ENSG00000103184), SEC14L1 (ENSG00000129657), SEC14L4 (ENSG00000133488), TTPA (ENSG00000137561), SEC14L6 (ENSG00000214491)
Protein
Protein identifiers
SEC14-like protein 2 — O76054 (reviewed: O76054)
Alternative names: Alpha-tocopherol-associated protein, Squalene transfer protein, Supernatant protein factor
All UniProt accessions (7): O76054, B3KRD8, C9JTM4, C9JYY7, C9JZI9, F8WED8, F8WEE7
UniProt curated annotations — full annotation on UniProt →
Function. Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell.
Subunit / interactions. Monomer.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Widely expressed. Strong expression in liver, brain and prostate.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O76054-1 | 1 | yes |
| O76054-4 | 2 | |
| O76054-5 | 3 |
RefSeq proteins (4): NP_001191133, NP_001278861, NP_036561, NP_203740 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001251 | CRAL-TRIO_dom | Domain |
| IPR009038 | GOLD_dom | Domain |
| IPR011074 | CRAL/TRIO_N_dom | Domain |
| IPR036273 | CRAL/TRIO_N_dom_sf | Homologous_superfamily |
| IPR036598 | GOLD_dom_sf | Homologous_superfamily |
| IPR036865 | CRAL-TRIO_dom_sf | Homologous_superfamily |
| IPR051064 |
Pfam: PF00650, PF03765
UniProt features (50 total): helix 19, strand 15, turn 5, modified residue 4, domain 2, splice variant 2, chain 1, sequence conflict 1, sequence variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4OMJ | X-RAY DIFFRACTION | 1.6 |
| 4OMK | X-RAY DIFFRACTION | 1.75 |
| 1OLM | X-RAY DIFFRACTION | 1.95 |
| 1O6U | X-RAY DIFFRACTION | 2.05 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O76054-F1 | 95.76 | 0.93 |
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 (4): 51, 253, 257, 393
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 630 (showing top):
WALLACE_PROSTATE_CANCER_RACE_UP, BENPORATH_ES_WITH_H3K27ME3, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, MODULE_45, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, BROWNE_HCMV_INFECTION_12HR_UP, KEGG_ABC_TRANSPORTERS, NFKB_Q6, HINATA_NFKB_TARGETS_KERATINOCYTE_UP, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CHOLESTEROL_BIOSYNTHETIC_PROCESS, BENNETT_SYSTEMIC_LUPUS_ERYTHEMATOSUS
GO Biological Process (2): regulation of cholesterol biosynthetic process (GO:0045540), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (3): phospholipid binding (GO:0005543), vitamin E binding (GO:0008431), lipid binding (GO:0008289)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cholesterol biosynthetic process | 1 |
| regulation of cholesterol metabolic process | 1 |
| regulation of sterol biosynthetic process | 1 |
| regulation of alcohol biosynthetic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| lipid binding | 1 |
| vitamin binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
572 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEC14L2 | PI4KA | P42356 | 528 |
| SEC14L2 | CD81 | P18582 | 507 |
| SEC14L2 | CLDN1 | O95832 | 497 |
| SEC14L2 | PPIA | P05092 | 470 |
| SEC14L2 | SCARB1 | Q8WTV0 | 461 |
| SEC14L2 | DVL2 | O14641 | 432 |
| SEC14L2 | APOE | P02649 | 415 |
| SEC14L2 | CD302 | Q8IX05 | 379 |
| SEC14L2 | SQLE | Q14534 | 361 |
| SEC14L2 | CCDC74A | Q96AQ1 | 355 |
| SEC14L2 | SRFBP1 | Q8NEF9 | 349 |
| SEC14L2 | CYP4F2 | P78329 | 312 |
| SEC14L2 | CCDC74B | Q96LY2 | 308 |
| SEC14L2 | BUD13 | Q9BRD0 | 307 |
| SEC14L2 | LPL | P06858 | 292 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SEC14L3 | SEC14L2 | psi-mi:“MI:0914”(association) | 0.530 |
| SEC14L2 | Ppm1l | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPANXN2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (28): SEC14L2 (Affinity Capture-MS), SEC14L2 (Affinity Capture-RNA), SEC14L2 (Affinity Capture-RNA), SEC14L2 (Affinity Capture-MS), SEC14L2 (Affinity Capture-MS), SEC14L2 (Co-fractionation), SEC14L2 (Co-fractionation), GOT2 (Co-fractionation), CSTB (Co-fractionation), GPI (Co-fractionation), RAC2 (Co-fractionation), ANXA7 (Co-fractionation), ALDH4A1 (Co-fractionation), PEBP1 (Co-fractionation), S100A11 (Co-fractionation)
ESM2 similar proteins: A7T167, B3MZN7, B4PYH5, B5MCN3, F4JYJ3, O17907, O35239, O76054, P24280, P24859, P34913, P34914, P43378, P49193, P53989, P56523, P58875, P80299, Q03606, Q16KN5, Q16P87, Q29JQ0, Q2TAF8, Q4V8Q1, Q5RFR0, Q641Z2, Q653S9, Q6IPT4, Q6J756, Q6Q2C2, Q75DK1, Q78EJ9, Q8L7L1, Q8R0F9, Q91VA3, Q99J08, Q99MS0, Q9BTX7, Q9D3D0, Q9FKS0
Diamond homologs: A8Y5H7, B5MCN3, F4IHJ0, F4J7S8, F4JLE5, F4JVA6, F4JVA9, F4JYJ3, F4K6D3, O43304, O76054, P49193, P58875, Q03606, Q0V9N0, Q16KN5, Q29JQ0, Q7PWB1, Q8GXC6, Q8R0F9, Q92503, Q93ZE9, Q94A34, Q99J08, Q99MS0, Q9SI13, Q9SIW3, Q9UDX3, Q9UDX4, Q9VMD6, Q9Z1J8, Q10137, F4HP88, P24280, P24859, P33324, P45816, P46250, P53989, Q501H5
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PKA | “up-regulates activity” | SEC14L2 | phosphorylation |
| PRKACA | “up-regulates activity” | SEC14L2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3289 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:30397168:AAGG:A | donor_loss | 1.0000 |
| 22:30397169:AGGTG:A | donor_loss | 1.0000 |
| 22:30397170:GGT:G | donor_loss | 1.0000 |
| 22:30397171:GTGAG:G | donor_loss | 1.0000 |
| 22:30397172:T:A | donor_loss | 1.0000 |
| 22:30399641:A:AG | acceptor_gain | 1.0000 |
| 22:30399642:G:GG | acceptor_gain | 1.0000 |
| 22:30399725:G:T | donor_gain | 1.0000 |
| 22:30406340:A:AG | acceptor_gain | 1.0000 |
| 22:30406341:G:GG | acceptor_gain | 1.0000 |
| 22:30406384:AGGT:A | donor_loss | 1.0000 |
| 22:30406386:GTGAG:G | donor_loss | 1.0000 |
| 22:30406387:T:G | donor_loss | 1.0000 |
| 22:30407093:A:AG | acceptor_gain | 1.0000 |
| 22:30407094:G:GG | acceptor_gain | 1.0000 |
| 22:30407094:GCAT:G | acceptor_gain | 1.0000 |
| 22:30407413:A:AG | acceptor_gain | 1.0000 |
| 22:30407413:AG:A | acceptor_gain | 1.0000 |
| 22:30407413:AGGT:A | acceptor_gain | 1.0000 |
| 22:30407414:G:A | acceptor_loss | 1.0000 |
| 22:30407414:G:GG | acceptor_gain | 1.0000 |
| 22:30407414:GG:G | acceptor_gain | 1.0000 |
| 22:30407414:GGT:G | acceptor_gain | 1.0000 |
| 22:30407414:GGTG:G | acceptor_gain | 1.0000 |
| 22:30407414:GGTGA:G | acceptor_gain | 1.0000 |
| 22:30407599:CAAAG:C | donor_gain | 1.0000 |
| 22:30407600:AAAG:A | donor_gain | 1.0000 |
| 22:30407601:AAG:A | donor_gain | 1.0000 |
| 22:30407601:AAGGT:A | donor_loss | 1.0000 |
| 22:30407602:AG:A | donor_gain | 1.0000 |
AlphaMissense
2655 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:30410617:C:A | A201D | 0.999 |
| 22:30416235:T:A | W305R | 0.999 |
| 22:30416235:T:C | W305R | 0.999 |
| 22:30416242:T:C | F307S | 0.999 |
| 22:30422289:T:C | F365S | 0.999 |
| 22:30422296:C:A | N367K | 0.999 |
| 22:30422296:C:G | N367K | 0.999 |
| 22:30399709:T:A | W41R | 0.998 |
| 22:30399709:T:C | W41R | 0.998 |
| 22:30407473:T:A | V98D | 0.998 |
| 22:30410626:T:C | L204P | 0.998 |
| 22:30416084:T:A | L303H | 0.998 |
| 22:30416084:T:C | L303P | 0.998 |
| 22:30416271:G:T | G317W | 0.998 |
| 22:30416272:G:A | G317E | 0.998 |
| 22:30416320:T:C | M333T | 0.998 |
| 22:30416387:C:G | C355W | 0.998 |
| 22:30422280:T:A | V362D | 0.998 |
| 22:30422286:G:C | R364P | 0.998 |
| 22:30422303:A:C | S370R | 0.998 |
| 22:30422305:C:A | S370R | 0.998 |
| 22:30422305:C:G | S370R | 0.998 |
| 22:30422320:G:C | K375N | 0.998 |
| 22:30422320:G:T | K375N | 0.998 |
| 22:30422325:T:A | V377D | 0.998 |
| 22:30407508:G:C | G110R | 0.997 |
| 22:30409253:T:A | W164R | 0.997 |
| 22:30409253:T:C | W164R | 0.997 |
| 22:30409478:T:A | V191D | 0.997 |
| 22:30410614:T:A | V200E | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000135396 (22:30414019 C>T), RS1000235419 (22:30397460 C>CA), RS1000241369 (22:30421813 C>G), RS1000696529 (22:30424827 G>T), RS1000726765 (22:30397071 C>A,T), RS1000744980 (22:30401523 AT>A,ATT), RS1000783329 (22:30408428 CA>C,CAA), RS1000943325 (22:30410043 T>C), RS1000964699 (22:30408050 C>T), RS1001175892 (22:30402851 G>A), RS1001206675 (22:30413939 A>G), RS1001231908 (22:30396868 C>T), RS1001394522 (22:30395430 A>G), RS1001445670 (22:30399845 C>G), RS1001498220 (22:30396792 A>G)
Disease associations
OMIM: gene MIM:607558 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001585_24 | Breast size | 4.000000e-07 |
| GCST004607_193 | Plateletcrit | 7.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2071543 | PSMB8, TAP1, TAP2 | 0.00 | 0 | ||
| rs1135216 | TAP1 | 0.00 | 0 |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 3 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Smoke | increases abundance, decreases expression | 2 |
| Testosterone | increases expression, affects cotreatment, decreases reaction | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| terbufos | affects response to substance | 1 |
| alpha-terpineol | decreases reaction, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| linalool | decreases reaction, increases expression | 1 |
| gamma-terpinene | increases expression, decreases reaction | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| terpinenol-4 | decreases reaction, increases expression | 1 |
| lavender oil | decreases reaction, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| linalyl acetate | increases expression, decreases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Limonene | decreases reaction, increases expression | 1 |
| Eucalyptol | decreases reaction, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
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.