ENOX2
gene geneOn this page
Also known as APK1tNOX
Summary
ENOX2 (ecto-NOX disulfide-thiol exchanger 2, HGNC:2259) is a protein-coding gene on chromosome Xq26.1, encoding Ecto-NOX disulfide-thiol exchanger 2 (Q16206). May be involved in cell growth.
This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10495 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 195 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_006375
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2259 |
| Approved symbol | ENOX2 |
| Name | ecto-NOX disulfide-thiol exchanger 2 |
| Location | Xq26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | APK1, tNOX |
| Ensembl gene | ENSG00000165675 |
| Ensembl biotype | protein_coding |
| OMIM | 300282 |
| Entrez | 10495 |
Gene structure
Transcript identifiers
Ensembl transcripts: 42 — 41 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000338144, ENST00000370927, ENST00000370935, ENST00000394363, ENST00000432489, ENST00000492263, ENST00000686943, ENST00000714528, ENST00000714529, ENST00000900502, ENST00000900503, ENST00000900504, ENST00000900505, ENST00000900506, ENST00000900507, ENST00000900508, ENST00000900509, ENST00000900510, ENST00000900511, ENST00000900512, ENST00000900513, ENST00000900514, ENST00000900515, ENST00000937154, ENST00000937155, ENST00000937156, ENST00000937157, ENST00000937158, ENST00000937159, ENST00000937160, ENST00000937161, ENST00000937162, ENST00000937163, ENST00000951708, ENST00000951709, ENST00000951710, ENST00000951711, ENST00000951712, ENST00000951713, ENST00000951714, ENST00000951715, ENST00000951716
RefSeq mRNA: 10 — MANE Select: NM_006375
NM_001281736, NM_001382516, NM_001382517, NM_001382518, NM_001382519, NM_001382520, NM_001382521, NM_001382522, NM_006375, NM_182314
CCDS: CCDS14626, CCDS14627, CCDS94664
Canonical transcript exons
ENST00000394363 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000676734 | 130667530 | 130667742 |
| ENSE00000676735 | 130669965 | 130670198 |
| ENSE00000841495 | 130679542 | 130679748 |
| ENSE00000979408 | 130637229 | 130637410 |
| ENSE00000979409 | 130634984 | 130635091 |
| ENSE00000979410 | 130631468 | 130631576 |
| ENSE00000979411 | 130627958 | 130628043 |
| ENSE00001311339 | 130665643 | 130665749 |
| ENSE00001344059 | 130901684 | 130901731 |
| ENSE00002715532 | 130783547 | 130783690 |
| ENSE00003579849 | 130688863 | 130689018 |
| ENSE00003649865 | 130703120 | 130703254 |
| ENSE00003751259 | 130622325 | 130625445 |
| ENSE00003789622 | 130656581 | 130656695 |
| ENSE00003910517 | 130903049 | 130903209 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 91.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5917 / max 71.0773, expressed in 1776 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200479 | 6.1877 | 1714 |
| 200480 | 3.4040 | 1479 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 91.05 | gold quality |
| tendon | UBERON:0000043 | 89.68 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.67 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 87.55 | gold quality |
| popliteal artery | UBERON:0002250 | 86.71 | gold quality |
| tibial artery | UBERON:0007610 | 86.71 | gold quality |
| aorta | UBERON:0000947 | 85.50 | gold quality |
| right coronary artery | UBERON:0001625 | 85.39 | gold quality |
| left coronary artery | UBERON:0001626 | 84.41 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.28 | gold quality |
| thoracic aorta | UBERON:0001515 | 84.13 | gold quality |
| monocyte | CL:0000576 | 84.10 | gold quality |
| ascending aorta | UBERON:0001496 | 84.06 | gold quality |
| islet of Langerhans | UBERON:0000006 | 83.98 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.96 | gold quality |
| mononuclear cell | CL:0000842 | 83.77 | gold quality |
| leukocyte | CL:0000738 | 83.68 | gold quality |
| coronary artery | UBERON:0001621 | 83.45 | gold quality |
| right atrium auricular region | UBERON:0006631 | 82.66 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.14 | gold quality |
| gluteal muscle | UBERON:0002000 | 82.04 | silver quality |
| right adrenal gland | UBERON:0001233 | 81.72 | gold quality |
| medial globus pallidus | UBERON:0002477 | 81.70 | gold quality |
| cardiac atrium | UBERON:0002081 | 81.38 | gold quality |
| gall bladder | UBERON:0002110 | 81.30 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.26 | gold quality |
| heart | UBERON:0000948 | 81.05 | gold quality |
| heart left ventricle | UBERON:0002084 | 81.05 | gold quality |
| body of uterus | UBERON:0009853 | 80.97 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
97 targeting ENOX2, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
Literature-anchored findings (GeneRIF, showing 15)
- tNOX is both necessary and sufficient for the cellular anticancer activities attributed to both EGCg and capsaicin. *tNOX enzyme (PMID:15706060)
- results indicate that shRNA targeting of tNOX inhibits the growth of cervical cancer cells, and reduces cell migration via a decrease in the membrane association of Rac. (PMID:18023414)
- A relationship of tNOX to unregulated growth of cancer cells was provided by data where growth of HeLa cells was inhibited by transfection with the exon 5 antisense oligonucleotides (PMID:18351130)
- These results indicate that tNOX is suppressed during apoptosis and demonstrate that tNOX down-regulation sensitizes cells to stress-induced growth reduction, suggesting that tNOX is required for transformed cell growth. (PMID:18789934)
- Enhanced arNOX activity correlates with age and with oxidative changes contributing to skin aging. (PMID:19734125)
- arNOX activity correlates with age and reaches a maximum at about age 65 in males and 55 in females. (PMID:20345278)
- ENOX2 is a dimeric protein containing 4 coppers/dimer capable of carrying out concerted four electron transfers from NADH or ubiquinol to molecular oxygen as required to form water. (PMID:20922471)
- increased NADH levels resulting from ENOX2 inhibition result in decreased prosurvival sphingosine-1-phosphate and increased proapoptotic ceramide, both of which may be important to initiation of the ENOX2 inhibitor-induced apoptotic cascade. (PMID:21571040)
- this result suggests that hnRNP F directs formation of the exon 4 minus variant of ENOX2. (PMID:21625959)
- The results suggest that phosphorylation of serine-504 by PKCdelta modulates the biological function of tNOX. (PMID:22659163)
- The findings support a role for arNOX as a major source of oxidative damage leading to cross-linking of skin proteins. (PMID:24906676)
- These findings not only shed light on the molecular mechanism of the anticancer properties of capsaicin, but also the transcription regulation of tNOX expression that may potentially explain how POU3F2 is associated with tumorigenesis. (PMID:27271588)
- The tumor-associated NADH oxidase (tNOX)-mediated modulation of the NAD+ concentration and SIRT1 are involved in oxaliplatin-induced apoptosis. (PMID:28122359)
- ENOX2 NADH Oxidase: A BCR-ABL1-Dependent Cell Surface and Secreted Redox Protein in Chronic Myeloid Leukemia. (PMID:37026766)
- ENOX2 inhibition enhances infiltration of effector memory T-cell and mediates response to chemotherapy in immune-quiescent nasopharyngeal carcinoma. (PMID:37061217)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Enox2 | ENSMUSG00000031109 |
| rattus_norvegicus | Enox2 | ENSRNOG00000030622 |
| drosophila_melanogaster | CG10948 | FBGN0036317 |
Paralogs (1): ENOX1 (ENSG00000120658)
Protein
Protein identifiers
Ecto-NOX disulfide-thiol exchanger 2 — Q16206 (reviewed: Q16206)
Alternative names: APK1 antigen, Cytosolic ovarian carcinoma antigen 1, Tumor-associated hydroquinone oxidase
All UniProt accessions (5): A0A8I5KRI1, A0AAQ5BI24, A0AAQ5BI25, Q16206, B1AKF7
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock.
Subcellular location. Cell membrane. Secreted. Extracellular space.
Tissue specificity. Found in the sera of cancer patients with a wide variety of cancers including breast, prostate, lung and ovarian cancers, leukemias, and lymphomas. Not found in the serum of healthy volunteers or patients with disorders other than cancer. Probably shed into serum by cancer cells. Found on the cell borders of renal, kidney and ovarian carcinomas but not on the borders of surrounding non-cancerous stromal cells.
Post-translational modifications. Glycosylated.
Activity regulation. Inhibited by the antitumor sulfonylurea LY181984, the vabilloid capsaicin, and retinoids.
Miscellaneous. Has several properties associated with prions including resistance to proteases, resistance to cyanogen bromide digestion, and the ability to form amyloid filaments resembling those of spongiform encephalopathies.
Similarity. Belongs to the ENOX family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q16206-1 | 1 | yes |
| Q16206-2 | 2 |
RefSeq proteins (10): NP_001268665, NP_001369445, NP_001369446, NP_001369447, NP_001369448, NP_001369449, NP_001369450, NP_001369451, NP_006366, NP_872114 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034140 | ENOX_RRM | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR038876 | ENOX1/2 | Family |
| IPR056611 | ENOX1/2_dom | Domain |
Pfam: PF00076, PF23267
UniProt features (23 total): mutagenesis site 10, sequence conflict 6, coiled-coil region 2, sequence variant 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16206-F1 | 77.86 | 0.52 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 546 | loss of activity. |
| 558 | period length of activity extended to 42 minutes. |
| 562 | loss of activity. |
| 569 | loss of activity. |
| 575 | period length of activity extended to 36 minutes. |
| 592 | loss of activity. |
| 602 | period length of activity extended to 36 minutes. |
| 396 | no effect on activity but response to capsaicin is lost. |
| 505 | no effect on activity. |
| 510 | loss of activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 126 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOCC_CELL_SURFACE, AACYNNNNTTCCS_UNKNOWN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, MARTINEZ_RB1_TARGETS_DN, BRN2_01, MORF_IL4, GOBP_ELECTRON_TRANSPORT_CHAIN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, SHEN_SMARCA2_TARGETS_DN, GOCC_SIDE_OF_MEMBRANE, SMITH_TERT_TARGETS_UP, STAT1_02
GO Biological Process (3): ultradian rhythm (GO:0007624), electron transport chain (GO:0022900), rhythmic process (GO:0048511)
GO Molecular Function (4): RNA binding (GO:0003723), oxidoreductase activity (GO:0016491), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 2 |
| rhythmic process | 1 |
| generation of precursor metabolites and energy | 1 |
| biological_process | 1 |
| nucleic acid binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
Protein interactions and networks
STRING
654 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENOX2 | ACE2 | Q9BYF1 | 680 |
| ENOX2 | DIPK2A | Q8NDZ4 | 440 |
| ENOX2 | ZNF638 | Q14966 | 408 |
| ENOX2 | R3HCC1 | Q9Y3T6 | 389 |
| ENOX2 | CDR2 | Q01850 | 356 |
| ENOX2 | CLASP1 | Q7Z460 | 355 |
| ENOX2 | RASD2 | Q96D21 | 348 |
| ENOX2 | ALDH18A1 | P54886 | 348 |
| ENOX2 | UFM1 | P61960 | 348 |
| ENOX2 | FNDC5 | Q8NAU1 | 346 |
| ENOX2 | BNC2 | Q6ZN30 | 337 |
| ENOX2 | YPEL1 | O60688 | 333 |
| ENOX2 | C1QL4 | Q86Z23 | 332 |
| ENOX2 | UBE2G2 | P56554 | 322 |
| ENOX2 | TTC1 | Q99614 | 314 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPP25L | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP30 | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
| ENOX2 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ENOX2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| ENOX2 | TK | psi-mi:“MI:0915”(physical association) | 0.370 |
| ENOX2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| TUBB4B | ENOX2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAGEA11 | ENOX2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ENOX2 | ENOX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SOX2 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| SRSF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| SRSF5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| POP5 | RPP40 | psi-mi:“MI:0914”(association) | 0.350 |
| SRSF5 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| POP5 | TPP1 | psi-mi:“MI:0914”(association) | 0.350 |
| E2F3 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (41): ENOX2 (Two-hybrid), ENOX2 (Two-hybrid), ENOX2 (Two-hybrid), ENOX2 (Two-hybrid), ENOX1 (Two-hybrid), CIB3 (Two-hybrid), ENOX2 (Affinity Capture-RNA), ENOX2 (Affinity Capture-RNA), ENOX2 (Affinity Capture-MS), ENOX2 (Two-hybrid), ENOX1 (Two-hybrid), ENOX2 (Two-hybrid), ENOX2 (Affinity Capture-RNA), ENOX2 (Affinity Capture-RNA), ENOX2 (Two-hybrid)
ESM2 similar proteins: A0JMA8, A0MZ66, A0MZ67, A1A5P5, A4IGC3, A5WW21, B3DLE8, H2MTR9, P70302, P84903, Q08DR9, Q0P4J3, Q13586, Q16206, Q28IH8, Q2TAA8, Q3KR99, Q4R6I5, Q5BIX7, Q5I033, Q5M8Y7, Q5RA03, Q5U245, Q5XG48, Q5XIR8, Q6GP65, Q6IP02, Q6IQY5, Q6NRK1, Q6NRW2, Q6NRX3, Q6P0R8, Q6P402, Q7T0S7, Q7Z3E5, Q8BXX9, Q8K2Q9, Q8K4I6, Q8MJK1, Q8N6V9
Diamond homologs: A6NDY0, B0BNE4, B1WC40, B7P877, O13741, O14327, O75494, O89086, O93235, P07909, P40561, P41891, P42696, P48810, P52298, P53883, P98179, Q00916, Q02926, Q08208, Q09295, Q09301, Q15056, Q16206, Q177H0, Q1HE01, Q1JPH6, Q28165, Q28ZX3, Q3MHY8, Q3ZBJ1, Q499V6, Q54ZS8, Q56JZ7, Q5M9F1, Q5RBR8, Q5XFR0, Q5XI72, Q6C2Q7, Q6CKV6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCD | up-regulates | ENOX2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
195 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 564897 | GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | Pathogenic |
SpliceAI
4399 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:130634979:TGTA:T | donor_loss | 1.0000 |
| X:130634980:GTAC:G | donor_loss | 1.0000 |
| X:130634981:TA:T | donor_loss | 1.0000 |
| X:130634983:C:T | donor_loss | 1.0000 |
| X:130635087:AGATG:A | acceptor_gain | 1.0000 |
| X:130635088:GATG:G | acceptor_gain | 1.0000 |
| X:130635089:ATG:A | acceptor_gain | 1.0000 |
| X:130635090:TG:T | acceptor_gain | 1.0000 |
| X:130635091:GCT:G | acceptor_loss | 1.0000 |
| X:130635092:C:CC | acceptor_gain | 1.0000 |
| X:130635092:CTA:C | acceptor_loss | 1.0000 |
| X:130635093:T:C | acceptor_loss | 1.0000 |
| X:130637223:CTTTA:C | donor_loss | 1.0000 |
| X:130637224:TTTA:T | donor_loss | 1.0000 |
| X:130637225:TTACC:T | donor_loss | 1.0000 |
| X:130637226:TAC:T | donor_loss | 1.0000 |
| X:130637227:A:AT | donor_loss | 1.0000 |
| X:130637228:C:A | donor_loss | 1.0000 |
| X:130665639:CAA:C | donor_loss | 1.0000 |
| X:130665640:AAC:A | donor_loss | 1.0000 |
| X:130665641:A:AG | donor_loss | 1.0000 |
| X:130665642:C:CA | donor_loss | 1.0000 |
| X:130665647:G:C | donor_gain | 1.0000 |
| X:130665781:CAGGG:C | acceptor_gain | 1.0000 |
| X:130665789:C:CT | acceptor_gain | 1.0000 |
| X:130665793:C:CT | acceptor_gain | 1.0000 |
| X:130665793:C:T | acceptor_gain | 1.0000 |
| X:130665794:A:T | acceptor_gain | 1.0000 |
| X:130665798:A:AC | acceptor_gain | 1.0000 |
| X:130665798:A:C | acceptor_gain | 1.0000 |
AlphaMissense
3876 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:130625352:A:G | W599R | 1.000 |
| X:130625352:A:T | W599R | 1.000 |
| X:130625372:C:T | G592E | 1.000 |
| X:130625373:C:G | G592R | 1.000 |
| X:130625373:C:T | G592R | 1.000 |
| X:130625378:C:T | G590E | 1.000 |
| X:130625396:A:G | F584S | 1.000 |
| X:130627981:A:C | Y560D | 1.000 |
| X:130627993:A:G | Y556H | 1.000 |
| X:130628007:C:A | G551V | 1.000 |
| X:130628007:C:T | G551E | 1.000 |
| X:130628008:C:G | G551R | 1.000 |
| X:130628008:C:T | G551R | 1.000 |
| X:130628015:G:C | H548Q | 1.000 |
| X:130628015:G:T | H548Q | 1.000 |
| X:130628017:G:C | H548D | 1.000 |
| X:130628025:A:G | L545P | 1.000 |
| X:130628027:G:C | F544L | 1.000 |
| X:130628027:G:T | F544L | 1.000 |
| X:130628028:A:G | F544S | 1.000 |
| X:130628029:A:G | F544L | 1.000 |
| X:130665648:C:G | A366P | 1.000 |
| X:130665660:A:G | W362R | 1.000 |
| X:130665660:A:T | W362R | 1.000 |
| X:130665673:C:A | K357N | 1.000 |
| X:130665673:C:G | K357N | 1.000 |
| X:130665675:T:C | K357E | 1.000 |
| X:130665677:C:G | R356P | 1.000 |
| X:130665679:C:A | Q355H | 1.000 |
| X:130665679:C:G | Q355H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002290 (X:130691534 T>C), RS1000009448 (X:130764061 A>G), RS1000014659 (X:130679344 C>A), RS1000086418 (X:130743547 T>C), RS1000128096 (X:130873560 T>C), RS1000129910 (X:130807380 G>A), RS1000152572 (X:130757781 T>C), RS1000166531 (X:130718997 C>T), RS1000172840 (X:130758024 T>C), RS1000174869 (X:130819281 T>G), RS1000185505 (X:130902162 C>G), RS1000195403 (X:130901727 G>C,T), RS1000197455 (X:130623070 C>T), RS1000222832 (X:130769189 T>C), RS1000259650 (X:130737973 C>T)
Disease associations
OMIM: gene MIM:300282 | 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 |
|---|---|---|
| GCST90002384_518 | Hemoglobin | 7.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3714292 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 6 |
| epigallocatechin gallate | increases response to substance, decreases activity, increases abundance | 2 |
| Vehicle Emissions | increases expression, decreases expression, increases abundance, decreases reaction | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression, decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| Particulate Matter | decreases reaction, increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| phenoxodiol | decreases activity, increases abundance | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment, increases methylation | 1 |
| Asbestos | affects response to substance | 1 |
| Capsaicin | increases response to substance | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | increases expression | 1 |
| NAD | decreases activity, increases abundance | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Lithium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3748910 | Binding | Inhibition of tNOX in human AGS cells assessed as reduction in cell migration | Synthesis and Characterization of 4,11-Diaminoanthra[2,3-b]furan-5,10-diones: Tumor Cell Apoptosis through tNOX-Modulated NAD(+)/NADH Ratio and SIRT1. — J Med Chem |
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.