DHRS9
gene geneOn this page
Also known as RDHL3alpha-HSDRETSDR8RDH15SDR9C4
Summary
DHRS9 (dehydrogenase/reductase 9, HGNC:16888) is a protein-coding gene on chromosome 2q31.1, encoding Dehydrogenase/reductase SDR family member 9 (Q9BPW9). 3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone.
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10170 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 74 total — 1 likely-pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_001376924
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16888 |
| Approved symbol | DHRS9 |
| Name | dehydrogenase/reductase 9 |
| Location | 2q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4 |
| Ensembl gene | ENSG00000073737 |
| Ensembl biotype | protein_coding |
| OMIM | 612131 |
| Entrez | 10170 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 16 protein_coding
ENST00000357546, ENST00000412271, ENST00000421653, ENST00000428522, ENST00000432060, ENST00000436483, ENST00000450153, ENST00000602501, ENST00000674881, ENST00000867643, ENST00000867644, ENST00000867645, ENST00000867646, ENST00000867647, ENST00000867648, ENST00000969118
RefSeq mRNA: 5 — MANE Select: NM_001376924
NM_001142270, NM_001142271, NM_001289763, NM_001376924, NM_199204
CCDS: CCDS2231, CCDS74600
Canonical transcript exons
ENST00000674881 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001411079 | 169095544 | 169096167 |
| ENSE00002275346 | 169091790 | 169091953 |
| ENSE00003534237 | 169083329 | 169083587 |
| ENSE00003585749 | 169081523 | 169081894 |
| ENSE00003901214 | 169069563 | 169069717 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 99.20.
FANTOM5 (CAGE): breadth broad, TPM avg 5.3333 / max 411.2630, expressed in 463 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23529 | 3.6082 | 391 |
| 23531 | 0.6696 | 160 |
| 23534 | 0.2332 | 54 |
| 23530 | 0.1974 | 103 |
| 23532 | 0.1908 | 74 |
| 23525 | 0.1127 | 45 |
| 23526 | 0.0992 | 45 |
| 23527 | 0.0715 | 32 |
| 23528 | 0.0662 | 29 |
| 23533 | 0.0653 | 15 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nasal cavity epithelium | UBERON:0005384 | 99.20 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.85 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 98.76 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.67 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.50 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.50 | gold quality |
| bronchus | UBERON:0002185 | 98.41 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.44 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.20 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.02 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 95.46 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.97 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.83 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 94.25 | gold quality |
| sperm | CL:0000019 | 94.11 | gold quality |
| rectum | UBERON:0001052 | 93.43 | gold quality |
| oral cavity | UBERON:0000167 | 92.97 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 91.48 | gold quality |
| male germ cell | CL:0000015 | 91.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.29 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.75 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.71 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.66 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.87 | silver quality |
| trachea | UBERON:0003126 | 89.80 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 89.55 | silver quality |
| transverse colon | UBERON:0001157 | 88.71 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.49 | gold quality |
| periodontal ligament | UBERON:0008266 | 88.27 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.26 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-86618 | yes | 1732.50 |
| E-MTAB-8530 | yes | 720.55 |
| E-MTAB-6075 | yes | 580.80 |
| E-CURD-114 | yes | 309.62 |
| E-GEOD-125970 | yes | 16.93 |
| E-ANND-3 | yes | 9.15 |
| E-CURD-112 | yes | 5.90 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR3C1
Literature-anchored findings (GeneRIF, showing 9)
- expression of retinol dehydrogenase L is regulated by APC and CDX2 (PMID:15190067)
- Dehydrogenase/reductase SDR family member 9 is a moonlighting protein that functions as both a metabolic enzyme and as a transcriptional repressor. (PMID:16691198)
- retinoic acid-responsive genes are induced by Epstein-Barr virus lytic infection through induction of a retinol-metabolizing enzyme, DHRS9 (PMID:17244623)
- decreased expression of DHRS9 correlates with tumor progression and may serve as a potential prognostic biomarker in colorectal cancer (PMID:26254099)
- Even at early stages of malignant transformation, a significant decrease in ADH1B, ADH3, RDHL, and RALDH1 mRNA levels was observed in 82, 79, 73, and 64% of tumor specimens, respectively (PMID:27239845)
- DHRS9 is a specific and stable marker of human regulatory macrophages. (PMID:28594751)
- The study findings suggest that DHRS9 might be a useful diagnostic and prognostic marker for oral squamous cell carcinoma (PMID:30149992)
- Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report. (PMID:32752300)
- Transcription Factor FXR Activates DHRS9 to Inhibit the Cell Oxidative Phosphorylation and Suppress Colon Cancer Progression. (PMID:36340269)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dhrs9 | ENSDARG00000019260 |
| mus_musculus | Dhrs9 | ENSMUSG00000027068 |
| rattus_norvegicus | Dhrs9 | ENSRNOG00000065735 |
Paralogs (25): HSD17B6 (ENSG00000025423), RDH11 (ENSG00000072042), HSD17B10 (ENSG00000072506), HSD17B2 (ENSG00000086696), HSD17B14 (ENSG00000087076), DHRS12 (ENSG00000102796), HSDL1 (ENSG00000103160), HSD17B1 (ENSG00000108786), RDH10 (ENSG00000121039), HSD17B3 (ENSG00000130948), HSD17B7 (ENSG00000132196), HSD17B4 (ENSG00000133835), RDH5 (ENSG00000135437), RDH16 (ENSG00000139547), RDH12 (ENSG00000139988), HSD17B12 (ENSG00000149084), BDH1 (ENSG00000161267), DHRS3 (ENSG00000162496), SDR9C7 (ENSG00000170426), HSD17B13 (ENSG00000170509), SDR16C5 (ENSG00000170786), HSD11B2 (ENSG00000176387), WWOX (ENSG00000186153), HSD17B11 (ENSG00000198189), HSD17B8 (ENSG00000204228)
Protein
Protein identifiers
Dehydrogenase/reductase SDR family member 9 — Q9BPW9 (reviewed: Q9BPW9)
Alternative names: 3-alpha hydroxysteroid dehydrogenase, NADP-dependent retinol dehydrogenase/reductase, RDH-E2, RDHL, Retinol dehydrogenase 15, Short chain dehydrogenase/reductase family 9C member 4, Short-chain dehydrogenase/reductase retSDR8, Tracheobronchial epithelial cell-specific retinol dehydrogenase
All UniProt accessions (2): Q9BPW9, C9J430
UniProt curated annotations — full annotation on UniProt →
Function. 3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone. Also plays a role in the biosynthesis of retinoic acid from retinaldehyde. Can utilize both NADH and NADPH.
Subunit / interactions. Homotetramer.
Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Highly expressed in trachea and epidermis. Detected at lower levels in spinal cord, bone marrow, brain, tongue, esophagus, heart, colon, testis, placenta, lung, skeletal muscle and lymph node.
Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BPW9-1 | 1 | yes |
| Q9BPW9-2 | 2, Retinol dehydrogenase homolog isoform-2 | |
| Q9BPW9-3 | 3, Retinol dehydrogenase homolog isoform-1 | |
| Q9BPW9-4 | 4 |
RefSeq proteins (5): NP_001135742, NP_001135743, NP_001276692, NP_001363853, NP_954674 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002347 | SDR_fam | Family |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
Pfam: PF00106
Catalyzed reactions (Rhea), 6 shown:
- androsterone + NAD(+) = 5alpha-androstan-3,17-dione + NADH + H(+) (RHEA:20381)
- all-trans-retinol + NAD(+) = all-trans-retinal + NADH + H(+) (RHEA:21284)
- 3alpha-hydroxy-5alpha-pregnan-20-one + NAD(+) = 5alpha-pregnane-3,20-dione + NADH + H(+) (RHEA:41980)
- 3beta-hydroxy-5alpha-pregnane-20-one + NAD(+) = 5alpha-pregnane-3,20-dione + NADH + H(+) (RHEA:41988)
- 17beta-hydroxy-5alpha-androstan-3-one + NAD(+) = 5alpha-androstan-3,17-dione + NADH + H(+) (RHEA:41992)
- 5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + NADH + H(+) (RHEA:42004)
UniProt features (15 total): binding site 4, splice variant 3, mutagenesis site 2, sequence conflict 2, signal peptide 1, chain 1, sequence variant 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BPW9-F1 | 94.55 | 0.84 |
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 (1): 176 (proton acceptor)
Ligand- & substrate-binding residues (4): 34–58; 83; 164; 180
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 176 | decreases androsterone dehydrogenase activity; when associated with r-180. |
| 180 | decreases androsterone dehydrogenase activity; when associated with f-176. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2453902 | The canonical retinoid cycle in rods (twilight vision) |
| R-HSA-5365859 | RA biosynthesis pathway |
MSigDB gene sets: 191 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_EPITHELIUM_DEVELOPMENT, MODULE_169, GOBP_C21_STEROID_HORMONE_METABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GROSS_HYPOXIA_VIA_ELK3_DN
GO Biological Process (8): steroid metabolic process (GO:0008202), androgen metabolic process (GO:0008209), epithelial cell differentiation (GO:0030855), progesterone metabolic process (GO:0042448), retinol metabolic process (GO:0042572), 9-cis-retinoic acid biosynthetic process (GO:0042904), retinoic acid biosynthetic process (GO:0002138), lipid metabolic process (GO:0006629)
GO Molecular Function (9): alcohol dehydrogenase (NAD+) activity (GO:0004022), all-trans-retinol dehydrogenase (NAD+) activity (GO:0004745), oxidoreductase activity (GO:0016491), racemase and epimerase activity (GO:0016854), androsterone dehydrogenase [NAD(P)+] activity (GO:0047023), testosterone dehydrogenase (NAD+) activity (GO:0047035), androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity (GO:0047044), protein binding (GO:0005515), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Visual phototransduction | 1 |
| Signaling by Retinoic Acid | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hormone metabolic process | 2 |
| olefinic compound metabolic process | 2 |
| steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 2 |
| lipid metabolic process | 1 |
| steroid metabolic process | 1 |
| cell differentiation | 1 |
| epithelium development | 1 |
| C21-steroid hormone metabolic process | 1 |
| ketone metabolic process | 1 |
| retinoid metabolic process | 1 |
| primary alcohol metabolic process | 1 |
| retinoic acid biosynthetic process | 1 |
| 9-cis-retinoic acid metabolic process | 1 |
| diterpenoid biosynthetic process | 1 |
| retinoic acid metabolic process | 1 |
| monocarboxylic acid biosynthetic process | 1 |
| primary metabolic process | 1 |
| alcohol dehydrogenase [NAD(P)+] activity | 1 |
| alcohol dehydrogenase (NAD+) activity | 1 |
| catalytic activity | 1 |
| isomerase activity | 1 |
| 17-beta-hydroxysteroid dehydrogenase (NAD+) activity | 1 |
| binding | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1010 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DHRS9 | AKR1C4 | P17516 | 945 |
| DHRS9 | AKR1C2 | P52895 | 930 |
| DHRS9 | AKR1C3 | P42330 | 926 |
| DHRS9 | AKR1C1 | P52896 | 913 |
| DHRS9 | DHDH | Q9UQ10 | 834 |
| DHRS9 | AKR1B10 | O60218 | 765 |
| DHRS9 | AKR1A1 | P14550 | 724 |
| DHRS9 | SDAD1 | Q9NVU7 | 571 |
| DHRS9 | AKR1B1 | P15121 | 559 |
| DHRS9 | HSD3B1 | P14060 | 534 |
| DHRS9 | DHRS3 | O75911 | 527 |
| DHRS9 | CDX2 | Q99626 | 523 |
| DHRS9 | RBP1 | P09455 | 517 |
| DHRS9 | SRD5A1 | P18405 | 510 |
| DHRS9 | CYP11A1 | P05108 | 493 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DHRS9 | MFSD4B | psi-mi:“MI:0914”(association) | 0.530 |
| TFDP3 | E2F3 | psi-mi:“MI:0914”(association) | 0.530 |
| DHRS9 | HNRNPAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| DHRS9 | ATP2B2 | psi-mi:“MI:0914”(association) | 0.350 |
| TULP3 | PPM1G | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OR2A4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| SSUH2 | IGLC7 | psi-mi:“MI:0914”(association) | 0.350 |
| PINK1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| DHRS9 | SLAMF1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZSCAN26 | TRIM11 | psi-mi:“MI:0914”(association) | 0.350 |
| SMPD2 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (40): TTYH3 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), C1orf85 (Affinity Capture-MS), CHIC2 (Affinity Capture-MS), GALNT11 (Affinity Capture-MS), KIAA1919 (Affinity Capture-MS), MAVS (Affinity Capture-MS), EMB (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), CHIC2 (Affinity Capture-MS), EMB (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), KIAA1919 (Affinity Capture-MS), GALNT11 (Affinity Capture-MS), C1orf85 (Affinity Capture-MS)
ESM2 similar proteins: A2ADU8, A2ADU9, A6QP72, F6ZFR0, O74850, O94361, P51658, Q08650, Q16635, Q22267, Q32LS6, Q3UN02, Q41745, Q4V8A1, Q4V9F0, Q502J0, Q54GC1, Q58HT5, Q58NB6, Q5F3X0, Q62730, Q6CF02, Q6E1M8, Q6E213, Q6IV76, Q6IV77, Q6IV78, Q6IV82, Q6IV83, Q6IV84, Q6IWY1, Q6P342, Q6PAZ3, Q6ZPD8, Q7TQA3, Q8LG50, Q8N3Y7, Q8TC12, Q8VD48, Q91WF0
Diamond homologs: A0A017SE81, A0A0E3D8L9, A0A0U1LQE2, A0A140JWS5, A0A2G0QDN4, A0A3R5XUE6, A0A5B8YU68, A0A8F5XX49, A6SSW9, A7LB60, D2WKD9, F1QLP1, G4N286, G9N4A9, N4WE73, O05730, O14756, O16881, O54753, O54909, O55240, O74628, O75452, P0AFP4, P0AFP5, P0CU71, P0DKC5, P0DKC6, P15047, P25970, P29147, P37059, P37959, P39577, P40471, P50170, P54554, P66778, P69166, P71079
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DHRS9 | “down-regulates quantity” | retinol | “chemical modification” |
| DHRS9 | “up-regulates quantity” | retinal | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 60 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 187824 | GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1 | Likely pathogenic |
SpliceAI
911 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:169072660:G:GT | donor_gain | 1.0000 |
| 2:169081891:AAAG:A | donor_loss | 1.0000 |
| 2:169081895:GT:G | donor_loss | 1.0000 |
| 2:169083321:T:TA | acceptor_gain | 1.0000 |
| 2:169083323:TTCTA:T | acceptor_loss | 1.0000 |
| 2:169083324:TCTA:T | acceptor_loss | 1.0000 |
| 2:169083325:CTAG:C | acceptor_loss | 1.0000 |
| 2:169083326:TA:T | acceptor_loss | 1.0000 |
| 2:169083327:A:AG | acceptor_gain | 1.0000 |
| 2:169083328:G:GG | acceptor_gain | 1.0000 |
| 2:169083328:GGTC:G | acceptor_gain | 1.0000 |
| 2:169083328:GGTCT:G | acceptor_gain | 1.0000 |
| 2:169083583:TTAAG:T | donor_loss | 1.0000 |
| 2:169083584:TAAG:T | donor_loss | 1.0000 |
| 2:169083585:AAG:A | donor_loss | 1.0000 |
| 2:169083586:AGG:A | donor_loss | 1.0000 |
| 2:169083587:GGTA:G | donor_loss | 1.0000 |
| 2:169083588:GTA:G | donor_loss | 1.0000 |
| 2:169083589:T:A | donor_loss | 1.0000 |
| 2:169081890:GAAAG:G | donor_gain | 0.9900 |
| 2:169081896:T:G | donor_loss | 0.9900 |
| 2:169083327:AG:A | acceptor_gain | 0.9900 |
| 2:169083328:GG:G | acceptor_gain | 0.9900 |
| 2:169083328:GGT:G | acceptor_gain | 0.9900 |
| 2:169083570:TTTC:T | donor_gain | 0.9900 |
| 2:169091954:G:GG | donor_gain | 0.9900 |
| 2:169072661:C:T | donor_gain | 0.9800 |
| 2:169081686:T:TA | acceptor_gain | 0.9800 |
| 2:169083487:A:T | donor_gain | 0.9800 |
| 2:169083565:G:GT | donor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000154418 (2:169087702 GTAATGAATTTTGCTAGGAC>G), RS1000237067 (2:169088087 G>T), RS1000253814 (2:169069907 C>T), RS1000332330 (2:169082476 T>A), RS1000392200 (2:169085543 C>A,T), RS1000557867 (2:169093760 G>A), RS1000708505 (2:169088164 G>A), RS1000837900 (2:169076188 G>T), RS1000852948 (2:169072033 C>A), RS1000853741 (2:169082230 A>G), RS1000934028 (2:169088382 G>A,C), RS1001062067 (2:169092859 C>G), RS1001244226 (2:169083880 G>C), RS1001259331 (2:169089723 T>C), RS1001294169 (2:169086967 T>C)
Disease associations
OMIM: gene MIM:612131 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006993_3 | Hippocampal volume in Alzheimer’s disease dementia | 1.000000e-06 |
| GCST009652_7 | Serum alkaline phosphatase levels | 6.000000e-10 |
| GCST010241_213 | Apolipoprotein A1 levels | 1.000000e-09 |
| GCST010396_67 | Gut microbiota (bacterial taxa, hurdle binary method) | 8.000000e-06 |
| GCST90011900_173 | Serum alkaline phosphatase levels | 1.000000e-48 |
| GCST90013405_14 | Liver enzyme levels (alanine transaminase) | 4.000000e-22 |
| GCST90013407_195 | Liver enzyme levels (gamma-glutamyl transferase) | 1.000000e-27 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005035 | hippocampal volume |
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5974 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 156,366 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL6 | INDOMETHACIN | 4 | 156,366 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
85 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression | 3 |
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 3 |
| Tretinoin | affects cotreatment, increases expression | 3 |
| propionaldehyde | increases expression | 2 |
| butyraldehyde | increases expression | 2 |
| pentanal | increases expression | 2 |
| Rosiglitazone | increases expression | 2 |
| Troglitazone | increases expression | 2 |
| Acetaminophen | increases expression, affects cotreatment | 2 |
| Arsenic | increases abundance, affects cotreatment, increases expression, decreases expression | 2 |
| Copper | affects cotreatment, decreases expression, affects binding, increases expression | 2 |
| Phenobarbital | affects expression, increases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Triclosan | increases expression, decreases expression, affects cotreatment | 2 |
| Isotretinoin | decreases expression, affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| methyleugenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| senecionine | increases expression | 1 |
| senkirkine | increases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| heliotrine | increases expression | 1 |
| n-hexanal | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| 2,3-pentanedione | increases expression | 1 |
| arsenite | decreases expression, increases abundance | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | affects 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 |
|---|---|---|---|
| CHEMBL1031472 | Binding | Inhibition of 3alpha-HSD | Synthesis and pharmacological activities of some sesquiterpene quinones and hydroquinones. — Bioorg 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.