AKR1B15
gene geneOn this page
Summary
AKR1B15 (aldo-keto reductase family 1 member B15, HGNC:37281) is a protein-coding gene on chromosome 7q33, encoding Aldo-keto reductase family 1 member B15 (C9JRZ8). Catalyzes the NADPH-dependent reduction of a variety of carbonyl substrates, like aromatic aldehydes, alkenals, ketones and alpha-dicarbonyl compounds.
Enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion.
Source: NCBI Gene 441282 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_001080538
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:37281 |
| Approved symbol | AKR1B15 |
| Name | aldo-keto reductase family 1 member B15 |
| Location | 7q33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000227471 |
| Ensembl biotype | protein_coding |
| OMIM | 616336 |
| Entrez | 441282 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron
ENST00000423958, ENST00000457545, ENST00000467156, ENST00000652743
RefSeq mRNA: 3 — MANE Select: NM_001080538
NM_001080538, NM_001367820, NM_001367821
CCDS: CCDS47715, CCDS94205
Canonical transcript exons
ENST00000457545 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001653107 | 134556736 | 134556859 |
| ENSE00001673699 | 134564598 | 134564769 |
| ENSE00001684793 | 134549110 | 134549249 |
| ENSE00001704980 | 134571604 | 134571681 |
| ENSE00001743890 | 134577704 | 134577786 |
| ENSE00001774315 | 134569413 | 134569529 |
| ENSE00002456786 | 134575821 | 134575927 |
| ENSE00002462394 | 134575420 | 134575542 |
| ENSE00002468691 | 134576963 | 134577046 |
| ENSE00002521002 | 134576349 | 134576430 |
| ENSE00003542726 | 134568158 | 134568325 |
| ENSE00003844463 | 134579507 | 134579869 |
Expression profiles
Bgee: expression breadth ubiquitous, 101 present calls, max score 81.01.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2554 / max 24.2956, expressed in 86 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 81261 | 0.2379 | 75 |
| 81262 | 0.0174 | 8 |
Top tissues by expression
122 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.01 | gold quality |
| duodenum | UBERON:0002114 | 79.93 | gold quality |
| gastrocnemius | UBERON:0001388 | 79.82 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 79.33 | gold quality |
| muscle of leg | UBERON:0001383 | 78.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.26 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 75.56 | gold quality |
| esophagus mucosa | UBERON:0002469 | 70.23 | gold quality |
| gall bladder | UBERON:0002110 | 69.87 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 69.77 | gold quality |
| muscle tissue | UBERON:0002385 | 67.73 | gold quality |
| placenta | UBERON:0001987 | 66.91 | gold quality |
| body of stomach | UBERON:0001161 | 66.84 | gold quality |
| vagina | UBERON:0000996 | 64.71 | gold quality |
| stomach | UBERON:0000945 | 63.86 | gold quality |
| urinary bladder | UBERON:0001255 | 63.05 | gold quality |
| islet of Langerhans | UBERON:0000006 | 62.59 | gold quality |
| minor salivary gland | UBERON:0001830 | 58.72 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 57.80 | gold quality |
| transverse colon | UBERON:0001157 | 57.64 | gold quality |
| small intestine | UBERON:0002108 | 56.92 | gold quality |
| fundus of stomach | UBERON:0001160 | 55.94 | gold quality |
| esophagus | UBERON:0001043 | 55.90 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 55.47 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 55.41 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 54.89 | gold quality |
| rectum | UBERON:0001052 | 54.75 | gold quality |
| left coronary artery | UBERON:0001626 | 54.03 | gold quality |
| skin of abdomen | UBERON:0001416 | 54.01 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 53.85 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.98 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, AR, CEBPG, FOS, JUN, JUND, NR1H4, NR1I2, NR1I3, NR5A1, SP1
miRNA regulators (miRDB)
26 targeting AKR1B15, 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-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-4804-3P | 99.65 | 67.78 | 866 |
| HSA-MIR-12117 | 99.50 | 67.57 | 868 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
| HSA-MIR-1288-5P | 98.85 | 67.01 | 734 |
| HSA-MIR-5000-3P | 98.79 | 65.63 | 1251 |
| HSA-MIR-548Q | 98.71 | 65.35 | 563 |
| HSA-MIR-4733-3P | 98.35 | 65.20 | 994 |
| HSA-MIR-3689A-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689B-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689E | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689F | 98.35 | 70.08 | 1052 |
| HSA-MIR-4436A | 98.05 | 64.83 | 1140 |
| HSA-MIR-4700-3P | 97.74 | 68.64 | 1014 |
| HSA-MIR-6511A-3P | 97.60 | 66.61 | 713 |
| HSA-MIR-6511B-3P | 97.60 | 66.61 | 713 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
| HSA-MIR-3663-5P | 97.01 | 64.84 | 713 |
| HSA-MIR-383-5P | 96.86 | 67.55 | 820 |
| HSA-MIR-4330 | 95.44 | 66.39 | 993 |
| HSA-MIR-1238-5P | 94.82 | 67.52 | 493 |
| HSA-MIR-4758-5P | 94.82 | 67.06 | 499 |
Literature-anchored findings (GeneRIF, showing 5)
- AKR1B15 and Akr1b16 genes are expressed as functional proteins in human and murine tissues (PMID:21276782)
- Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients (PMID:22277967)
- human sperm possess an aldo-keto reductase on their membrane surface and are thus enzymatically protected against reactive aldehyde species both in the male and female reproductive tract (PMID:22970857)
- AKR1B15.2 localizes to the cytosol and displays no enzymatic activity with the substrates tested. (PMID:25577493)
- Amino acid substitutions clustered in loops A and C result in a smaller more hydrophobic and more rigid active site in AKR1B15 compared with the AKR1B10 pocket, consistent with distinct substrate specificity and narrower inhibitor selectivity for AKR1B15. (PMID:26222439)
Cross-species orthologs
23 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:110366 | ENSDARG00000004167 |
| danio_rerio | akr1a1a | ENSDARG00000035257 |
| danio_rerio | zgc:110782 | ENSDARG00000044544 |
| danio_rerio | zgc:101765 | ENSDARG00000054934 |
| danio_rerio | zgc:56622 | ENSDARG00000099728 |
| drosophila_melanogaster | CG10863 | FBGN0027552 |
| drosophila_melanogaster | CG9436 | FBGN0033101 |
| drosophila_melanogaster | CG12766 | FBGN0035476 |
| drosophila_melanogaster | CG6083 | FBGN0036183 |
| drosophila_melanogaster | CG10638 | FBGN0036290 |
| drosophila_melanogaster | CG18547 | FBGN0037973 |
| drosophila_melanogaster | CG3397 | FBGN0037975 |
| drosophila_melanogaster | ARY | FBGN0058064 |
| caenorhabditis_elegans | WBGENE00003176 | |
| caenorhabditis_elegans | WBGENE00009980 | |
| caenorhabditis_elegans | WBGENE00009981 | |
| caenorhabditis_elegans | WBGENE00012722 | |
| caenorhabditis_elegans | WBGENE00012723 | |
| caenorhabditis_elegans | WBGENE00015307 | |
| caenorhabditis_elegans | WBGENE00015564 | |
| caenorhabditis_elegans | WBGENE00015565 | |
| caenorhabditis_elegans | WBGENE00016985 | |
| caenorhabditis_elegans | WBGENE00022887 |
Paralogs (16): AKR7A2 (ENSG00000053371), KCNAB2 (ENSG00000069424), AKR1B1 (ENSG00000085662), AKR1A1 (ENSG00000117448), AKR1D1 (ENSG00000122787), AKR1C2 (ENSG00000151632), AKR7A3 (ENSG00000162482), AKR1E2 (ENSG00000165568), KCNAB1 (ENSG00000169282), KCNAB3 (ENSG00000170049), AKR1C1 (ENSG00000187134), AKR1C3 (ENSG00000196139), AKR1B10 (ENSG00000198074), AKR1C4 (ENSG00000198610), AKR7L (ENSG00000211454), AKR1C8 (ENSG00000264006)
Protein
Protein identifiers
Aldo-keto reductase family 1 member B15 — C9JRZ8 (reviewed: C9JRZ8)
Alternative names: Estradiol 17-beta-dehydrogenase AKR1B15, Farnesol dehydrogenase, Testosterone 17beta-dehydrogenase
All UniProt accessions (1): C9JRZ8
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the NADPH-dependent reduction of a variety of carbonyl substrates, like aromatic aldehydes, alkenals, ketones and alpha-dicarbonyl compounds. In addition, catalyzes the reduction of androgens and estrogens with high positional selectivity (shows 17-beta-hydroxysteroid dehydrogenase activity) as well as 3-keto-acyl-CoAs. Displays strong enzymatic activity toward all-trans-retinal and 9-cis-retinal. May play a physiological role in retinoid metabolism. No oxidoreductase activity observed with the tested substrates.
Subunit / interactions. Monomer.
Subcellular location. Mitochondrion Cytoplasm. Cytosol.
Tissue specificity. Widely expressed. Expressed at highest levels in steroid-sensitive tissues, such as placenta, testis and adipose tissue.
Activity regulation. Inhibited by the inhibitor JF0064.
Miscellaneous. Has no counterpart in murine species.
Similarity. Belongs to the aldo/keto reductase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| C9JRZ8-1 | 1, AKR1B15.1 | yes |
| C9JRZ8-2 | 2, AKR1B15.2 |
RefSeq proteins (3): NP_001074007, NP_001354749, NP_001354750 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018170 | Aldo/ket_reductase_CS | Conserved_site |
| IPR020471 | AKR | Family |
| IPR023210 | NADP_OxRdtase_dom | Domain |
| IPR036812 | NAD(P)_OxRdtase_dom_sf | Homologous_superfamily |
Pfam: PF00248
Enzyme classification (BRENDA):
- EC 1.1.1.36 — acetoacetyl-CoA reductase (BRENDA: 31 organisms, 72 substrates, 26 inhibitors, 49 Km, 19 kcat entries)
- EC 1.1.1.62 — 17beta-estradiol 17-dehydrogenase (BRENDA: 20 organisms, 283 substrates, 790 inhibitors, 95 Km, 44 kcat entries)
Substrate kinetics (BRENDA)
51 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ACETOACETYL-COA | 0.002–0.74 | 16 |
| ESTRADIOL-17BETA | 0.0008–0.025 | 14 |
| ESTRONE | — | 10 |
| NADP+ | 0.0001–9 | 9 |
| 17BETA-ESTRADIOL | 0.0006–0.082 | 7 |
| NADPH | 0.0003–0.16 | 7 |
| ESTRADIOL | 0.0036–0.118 | 6 |
| NADPH | 0.018–0.0443 | 5 |
| TESTOSTERONE | 0.0071–0.263 | 4 |
| (3R)-3-HYDROXYDECANOYL-COA | 0.0054–0.0058 | 3 |
| (3R)-HYDROXYHEXADECANOYL-COA | 0.024–0.025 | 3 |
| NADH | 0.0077–0.4 | 3 |
| DEHYDROEPIANDROSTERONE | 0.0172–0.0598 | 3 |
| (3R)-HYDROXYBUTYRYL-COA | 0.055 | 2 |
| NADP+ | 0.031–0.06 | 2 |
Catalyzed reactions (Rhea), 12 shown:
- allyl alcohol + NADP(+) = acrolein + NADPH + H(+) (RHEA:12168)
- (2E,6E)-farnesol + NADP(+) = (2E,6E)-farnesal + NADPH + H(+) (RHEA:14697)
- testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH + H(+) (RHEA:14981)
- 17beta-estradiol + NADP(+) = estrone + NADPH + H(+) (RHEA:24616)
- all-trans-retinol + NADP(+) = all-trans-retinal + NADPH + H(+) (RHEA:25033)
- acetoin + NADP(+) = diacetyl + NADPH + H(+) (RHEA:35607)
- 17beta-hydroxy-5alpha-androstan-3-one + NADP(+) = 5alpha-androstan-3,17-dione + NADPH + H(+) (RHEA:42120)
- androsterone + NADPH + H(+) = 5alpha-androstane-3alpha,17beta-diol + NADP(+) (RHEA:42156)
- 3beta-hydroxyandrost-5-en-17-one + NADPH + H(+) = androst-5-en-3beta,17beta-diol + NADP(+) (RHEA:46628)
- nonan-2-one + NADP(+) = (3E)-nonen-2-one + NADPH + H(+) (RHEA:50616)
- 9-cis-retinol + NADP(+) = 9-cis-retinal + NADPH + H(+) (RHEA:54916)
- (E)-4-hydroxynon-2-en-1-ol + NADP(+) = (E)-4-hydroxynon-2-enal + NADPH + H(+) (RHEA:58416)
UniProt features (13 total): binding site 7, modified residue 2, chain 1, active site 1, splice variant 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-C9JRZ8-F1 | 97.71 | 0.99 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 49 (proton donor); 78 (lowers pka of active site tyr)
Ligand- & substrate-binding residues (7): 20–22; 44; 111; 160–161; 184; 210–217; 261–273
Post-translational modifications (2): 125, 263
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-193144 | Estrogen biosynthesis |
| R-HSA-1430728 | Metabolism |
| R-HSA-196071 | Metabolism of steroid hormones |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-8957322 | Metabolism of steroids |
MSigDB gene sets: 108 (showing top):
GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, GOBP_HORMONE_BIOSYNTHETIC_PROCESS, GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_ESTROGEN_BIOSYNTHETIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_ISOPRENOID_METABOLIC_PROCESS, GOBP_PRIMARY_ALCOHOL_METABOLIC_PROCESS, GOBP_ESTROGEN_METABOLIC_PROCESS, GOBP_STEROID_METABOLIC_PROCESS, GOBP_ALCOHOL_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_MATRIX
GO Biological Process (3): estrogen biosynthetic process (GO:0006703), lipid metabolic process (GO:0006629), retinol metabolic process (GO:0042572)
GO Molecular Function (9): aldose reductase (NADPH) activity (GO:0004032), estradiol 17-beta-dehydrogenase [NAD(P)+] activity (GO:0004303), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), testosterone dehydrogenase (NADP+) activity (GO:0047045), allyl-alcohol dehydrogenase activity (GO:0047655), farnesol dehydrogenase activity (GO:0047886), all-trans-retinol dehydrogenase (NADP+) activity (GO:0052650), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Metabolism of steroid hormones | 1 |
| Metabolism of steroids | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| alcohol dehydrogenase (NADP+) activity | 2 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| estrogen metabolic process | 1 |
| hormone biosynthetic process | 1 |
| steroid hormone biosynthetic process | 1 |
| primary metabolic process | 1 |
| retinoid metabolic process | 1 |
| primary alcohol metabolic process | 1 |
| hormone metabolic process | 1 |
| olefinic compound metabolic process | 1 |
| steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| 17-beta-hydroxysteroid dehydrogenase (NADP+) activity | 1 |
| retinol metabolic process | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
932 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AKR1B15 | AKR7A2 | O43488 | 518 |
| AKR1B15 | UBXN8 | O00124 | 483 |
| AKR1B15 | GIN1 | Q9NXP7 | 481 |
| AKR1B15 | AKR7A3 | O95154 | 464 |
| AKR1B15 | KCNAB3 | O43448 | 419 |
| AKR1B15 | CTSE | P14091 | 395 |
| AKR1B15 | CTXND1 | A0A1B0GTU2 | 395 |
| AKR1B15 | CNBP | P20694 | 393 |
| AKR1B15 | COBL | O75128 | 356 |
| AKR1B15 | ALDH3A2 | P51648 | 353 |
| AKR1B15 | ALDH3A1 | P30838 | 353 |
| AKR1B15 | ALDH3B1 | P43353 | 353 |
| AKR1B15 | KCNAB1 | Q14722 | 346 |
| AKR1B15 | KCNAB2 | Q13303 | 326 |
| AKR1B15 | ZNF506 | Q5JVG8 | 322 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AKR1B10 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| AKR1B10 | AKR1B15 | psi-mi:“MI:0915”(physical association) | 0.500 |
| AKR1B1 | AKR1B15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (20): AKR1B15 (Affinity Capture-MS), AKR1B15 (Affinity Capture-MS), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Co-fractionation), AKR1B15 (Affinity Capture-MS), AKR1B15 (Affinity Capture-MS), AKR1B15 (Two-hybrid), AKR1B15 (Affinity Capture-MS)
ESM2 similar proteins: C9JRZ8, M9PF61, O08782, O14088, O60218, O70473, O80944, O94735, P02532, P07943, P0DXG9, P0DXH7, P14550, P15121, P15122, P16116, P17264, P21300, P28475, P31210, P31867, P38715, P45376, P45377, P47137, P50578, P51635, P51857, P78736, P80276, P82125, Q0PGJ6, Q28FD1, Q3ZCJ2, Q54NZ7, Q568L5, Q5R5D5, Q5RJP0, Q5U1Y4, Q5ZK84
Diamond homologs: A0A1D5XGW0, A0A1X9QHJ0, A0A2P1GIY9, A0A9E7S518, A0A9E7S5B9, B4F9A4, B9VRJ2, C9JRZ8, D3ZF77, E7C196, H9JTG9, M9PF61, O08782, O32210, O34678, O49133, O60218, O70473, O80944, P02532, P05980, P07943, P0DKI7, P0DXG9, P0DXH7, P14065, P14550, P15121, P15122, P16116, P17264, P17516, P21300, P23457, P23901, P26690, P28475, P31867, P42330, P45376
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1919 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:134549248:AGG:A | donor_loss | 1.0000 |
| 7:134549250:G:A | donor_loss | 1.0000 |
| 7:134549250:G:GG | donor_gain | 1.0000 |
| 7:134549251:T:A | donor_loss | 1.0000 |
| 7:134568153:TTCA:T | acceptor_loss | 1.0000 |
| 7:134568154:TCA:T | acceptor_loss | 1.0000 |
| 7:134568155:CA:C | acceptor_loss | 1.0000 |
| 7:134568156:A:AC | acceptor_loss | 1.0000 |
| 7:134568156:A:AG | acceptor_gain | 1.0000 |
| 7:134568157:G:GC | acceptor_gain | 1.0000 |
| 7:134568157:GT:G | acceptor_gain | 1.0000 |
| 7:134568157:GTC:G | acceptor_gain | 1.0000 |
| 7:134568157:GTCT:G | acceptor_gain | 1.0000 |
| 7:134568157:GTCTC:G | acceptor_gain | 1.0000 |
| 7:134568372:G:GT | donor_gain | 1.0000 |
| 7:134575541:AG:A | donor_loss | 1.0000 |
| 7:134575542:GG:G | donor_loss | 1.0000 |
| 7:134575543:G:GC | donor_loss | 1.0000 |
| 7:134576343:CCCTA:C | acceptor_loss | 1.0000 |
| 7:134576344:CCTAG:C | acceptor_loss | 1.0000 |
| 7:134576345:CTAG:C | acceptor_loss | 1.0000 |
| 7:134576346:TA:T | acceptor_loss | 1.0000 |
| 7:134576347:A:AG | acceptor_gain | 1.0000 |
| 7:134576347:AG:A | acceptor_gain | 1.0000 |
| 7:134576347:AGG:A | acceptor_gain | 1.0000 |
| 7:134576347:AGGG:A | acceptor_loss | 1.0000 |
| 7:134576348:G:GT | acceptor_gain | 1.0000 |
| 7:134576348:GG:G | acceptor_gain | 1.0000 |
| 7:134576348:GGG:G | acceptor_gain | 1.0000 |
| 7:134576348:GGGCC:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000158376 (7:134563413 T>C), RS1000469036 (7:134561671 C>T), RS1000507347 (7:134551708 A>C), RS1000525326 (7:134571216 G>A), RS1000623721 (7:134566383 T>G), RS1000783040 (7:134556647 T>C), RS1000800411 (7:134561495 C>T), RS1000878995 (7:134547363 A>C), RS1001007358 (7:134552233 C>T), RS1001169637 (7:134550866 G>A), RS1001232148 (7:134571020 C>A), RS1001432388 (7:134551009 C>T), RS1001520136 (7:134561166 T>A), RS1001593564 (7:134561398 G>C), RS1001736231 (7:134556015 A>T)
Disease associations
OMIM: gene MIM:616336 | 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 |
|---|---|---|
| GCST000785_19 | Longevity | 1.000000e-06 |
| GCST012191_9 | Body mass index and systolic blood pressure (bivariate analysis) | 6.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, increases expression | 3 |
| sodium arsenite | increases expression | 2 |
| afuresertib | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| 4-nitrobenzaldehyde | increases metabolic processing | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| quinocetone | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid | decreases expression | 1 |
| NSC668394 | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Troglitazone | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Cytarabine | decreases expression | 1 |
| Glyceraldehyde | increases metabolic processing | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 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.