DHRS1
gene geneOn this page
Also known as FLJ25430MGC20204SDR19C1
Summary
DHRS1 (dehydrogenase/reductase 1, HGNC:16445) is a protein-coding gene on chromosome 14q12, encoding Dehydrogenase/reductase SDR family member 1 (Q96LJ7). NADPH-dependent oxidoreductase which catalyzes the reduction of steroids (estrone, androstene-3,17-dione and cortisone) as well as prostaglandin E1, isatin and xenobiotics in vitro.
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Source: NCBI Gene 115817 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 57 total
- MANE Select transcript:
NM_001136050
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16445 |
| Approved symbol | DHRS1 |
| Name | dehydrogenase/reductase 1 |
| Location | 14q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25430, MGC20204, SDR19C1 |
| Ensembl gene | ENSG00000157379 |
| Ensembl biotype | protein_coding |
| OMIM | 610410 |
| Entrez | 115817 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 7 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000288111, ENST00000396813, ENST00000558114, ENST00000558340, ENST00000559084, ENST00000559088, ENST00000559483, ENST00000560991, ENST00000561137, ENST00000561273, ENST00000561281, ENST00000860257, ENST00000860258, ENST00000860259, ENST00000941472, ENST00000941473
RefSeq mRNA: 2 — MANE Select: NM_001136050
NM_001136050, NM_138452
CCDS: CCDS9623
Canonical transcript exons
ENST00000288111 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001032196 | 24292652 | 24292784 |
| ENSE00002541954 | 24299581 | 24299780 |
| ENSE00003469620 | 24290598 | 24290995 |
| ENSE00003498444 | 24291139 | 24291219 |
| ENSE00003526017 | 24296509 | 24296588 |
| ENSE00003615563 | 24296738 | 24296881 |
| ENSE00003626113 | 24298957 | 24299130 |
| ENSE00003641418 | 24291556 | 24291625 |
| ENSE00003691794 | 24292184 | 24292330 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 98.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9688 / max 127.4112, expressed in 1795 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142583 | 12.5945 | 1794 |
| 142582 | 0.3743 | 147 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 98.41 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.66 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.23 | gold quality |
| liver | UBERON:0002107 | 96.20 | gold quality |
| duodenum | UBERON:0002114 | 95.95 | gold quality |
| skin of leg | UBERON:0001511 | 95.64 | gold quality |
| zone of skin | UBERON:0000014 | 95.46 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.25 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.21 | gold quality |
| vagina | UBERON:0000996 | 93.86 | gold quality |
| esophagus | UBERON:0001043 | 93.01 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.00 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.93 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.86 | gold quality |
| small intestine | UBERON:0002108 | 92.69 | gold quality |
| spleen | UBERON:0002106 | 92.38 | gold quality |
| transverse colon | UBERON:0001157 | 92.21 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.75 | gold quality |
| ectocervix | UBERON:0012249 | 91.25 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.22 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.17 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.14 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.03 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.98 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.98 | gold quality |
| uterine cervix | UBERON:0000002 | 90.95 | gold quality |
| prostate gland | UBERON:0002367 | 90.92 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.84 | gold quality |
| thyroid gland | UBERON:0002046 | 90.83 | gold quality |
| intestine | UBERON:0000160 | 90.77 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.56 |
| E-CURD-10 | no | 107.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting DHRS1, 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-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
Literature-anchored findings (GeneRIF, showing 5)
- novel human SDR-type dehydrogenase/reductase gene named Dehydrogenase/reductase (SDR family) member 1 (DHRS1) (PMID:12153138)
- Data suggest that members of short chain dehydrogenase/reductase superfamily (human DHRS1; E coli galE) exhibit conserved residues and tertiary structure in active site domain that are essential for biocatalysis. (PMID:25052469)
- DHRS1 was proven to be an NADPH-dependent reductase that is able to catalyse the in vitro reductive conversion of some steroids (estrone, androstene-3,17-dione and cortisone), as well as other endogenous substances and xenobiotics. (PMID:30031147)
- Decreased DHRS1 expression is a novel predictor of poor survival in patients with hepatocellular carcinoma. (PMID:34498498)
- Construction and validation of a immune-related prognostic gene DHRS1 in hepatocellular carcinoma based on bioinformatic analysis. (PMID:37861541)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dhrs1 | ENSDARG00000054300 |
| mus_musculus | Dhrs1 | ENSMUSG00000002332 |
| rattus_norvegicus | Dhrs1 | ENSRNOG00000020264 |
| drosophila_melanogaster | CG31546 | FBGN0051546 |
| drosophila_melanogaster | CG31548 | FBGN0051548 |
| caenorhabditis_elegans | WBGENE00000973 | |
| caenorhabditis_elegans | WBGENE00019109 |
Paralogs (13): RDH8 (ENSG00000080511), DHRS7 (ENSG00000100612), DHRS2 (ENSG00000100867), DHRS7B (ENSG00000109016), HSD11B1 (ENSG00000117594), HSDL2 (ENSG00000119471), DHRS4 (ENSG00000157326), CBR1 (ENSG00000159228), CBR3 (ENSG00000159231), HSD11B1L (ENSG00000167733), DHRS7C (ENSG00000184544), DHRS4L2 (ENSG00000187630), DHRS11 (ENSG00000278535)
Protein
Protein identifiers
Dehydrogenase/reductase SDR family member 1 — Q96LJ7 (reviewed: Q96LJ7)
Alternative names: Short chain dehydrogenase/reductase family 19C member 1
All UniProt accessions (2): Q96LJ7, H0YNC2
UniProt curated annotations — full annotation on UniProt →
Function. NADPH-dependent oxidoreductase which catalyzes the reduction of steroids (estrone, androstene-3,17-dione and cortisone) as well as prostaglandin E1, isatin and xenobiotics in vitro. May have a role in steroid and/or xenobiotic metabolism.
Subcellular location. Endoplasmic reticulum.
Tissue specificity. Detected in heart, liver, adrenal glands, and at low levels in skeletal muscle, kidney, pancreas and brain.
Domain organisation. May be attached to the ER membrane by its C-terminus segment.
Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
RefSeq proteins (2): NP_001129522, NP_612461 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002347 | SDR_fam | Family |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
Pfam: PF00106
Catalyzed reactions (Rhea), 4 shown:
- testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH + H(+) (RHEA:14981)
- 17alpha-estradiol + NADP(+) = estrone + NADPH + H(+) (RHEA:16705)
- isatin + NADPH + H(+) = 3-hydroxyindolin-2-one + NADP(+) (RHEA:68608)
- prostaglandin E1 + NADPH + H(+) = prostaglandin F1 + NADP(+) (RHEA:68612)
UniProt features (41 total): helix 13, strand 7, binding site 6, turn 5, sequence conflict 3, modified residue 2, initiator methionine 1, chain 1, sequence variant 1, region of interest 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2QQ5 | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96LJ7-F1 | 90.76 | 0.66 |
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): 163 (proton acceptor)
Ligand- & substrate-binding residues (6): 19; 64; 151; 163; 167; 198
Post-translational modifications (2): 2, 21
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 192 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, LUCAS_HNF4A_TARGETS_UP, BILD_SRC_ONCOGENIC_SIGNATURE, chr14q12, GOLDRATH_ANTIGEN_RESPONSE, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, CADWELL_ATG16L1_TARGETS_DN, CAIRO_HEPATOBLASTOMA_DN, SANSOM_APC_TARGETS_DN, MODULE_88, MORF_PML
GO Biological Process (1): SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)
GO Molecular Function (6): carbonyl reductase (NADPH) activity (GO:0004090), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), testosterone dehydrogenase (NADP+) activity (GO:0047045), estradiol 17-alpha-dehydrogenase [NAD(P)+] activity (GO:0047881), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (2): endoplasmic reticulum (GO:0005783), signal recognition particle, endoplasmic reticulum targeting (GO:0005786)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| SRP-dependent cotranslational protein targeting to membrane | 1 |
| protein-containing complex assembly | 1 |
| alcohol dehydrogenase (NADP+) activity | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| 17-beta-hydroxysteroid dehydrogenase (NADP+) activity | 1 |
| steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| signal recognition particle | 1 |
Protein interactions and networks
STRING
2933 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DHRS1 | COX18 | Q8N8Q8 | 457 |
| DHRS1 | DHRS7B | Q6IAN0 | 448 |
| DHRS1 | DHRS7 | Q9Y394 | 437 |
| DHRS1 | TTC38 | Q5R3I4 | 430 |
| DHRS1 | RDH10 | Q8IZV5 | 427 |
| DHRS1 | RRN3 | Q9NYV6 | 418 |
| DHRS1 | DHRS9 | Q9BPW9 | 396 |
| DHRS1 | FAR2 | Q96K12 | 379 |
| DHRS1 | C1orf226 | A1L170 | 370 |
| DHRS1 | ZNF575 | Q86XF7 | 368 |
| DHRS1 | PRELID3B | Q9Y3B1 | 367 |
| DHRS1 | RABGGTA | Q92696 | 359 |
| DHRS1 | IYD | Q6PHW0 | 358 |
| DHRS1 | TEN1 | Q86WV5 | 351 |
| DHRS1 | ZMAT2 | Q96NC0 | 348 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRTAP10-8 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DHRS1 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DHRS1 | MDFI | psi-mi:“MI:0915”(physical association) | 0.670 |
| MDFI | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| DHRS1 | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DHRS1 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.560 |
| DHRS1 | KRTAP3-2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KRTAP5-9 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP3-2 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-2 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-3 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-1 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP5-1 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-3 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP5-2 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-1 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-2 | DHRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (56): DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Proximity Label-MS), DHRS1 (Proximity Label-MS), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), LCE2B (Two-hybrid)
ESM2 similar proteins: A0A0H3KNE7, A0A3Q8GL18, A0A3Q8GLE8, A0A3Q8GYY4, A0A7N9VSG0, A0A7T8F1N2, A0A8F5XX49, A0A8I6GJ95, A0AAT9JA24, A5W4G5, A8C7R7, B8A5W4, D4A2B7, E9Q3D4, E9QUT3, G4N290, O35048, P0C622, P14061, P23102, P37440, P51656, P51661, P9WES5, P9WGQ2, P9WGQ3, Q08632, Q13268, Q17QU7, Q17QW3, Q4WR19, Q5C9I9, Q5R9W5, Q5SS80, Q7FAE1, Q7ZY31, Q8SPU8, Q8VBZ0, Q8XBJ4, Q91WL8
Diamond homologs: A0A097ZPE8, A0A0S2CGD3, A0A144Y7G4, A0A162J3X8, A0A1U8QWA2, A0A1W5SR39, A0A2I1C3V7, A4FUZ6, A6SSW9, A7AZH2, A7IQF2, A7LB60, D3U1D9, G4N290, I6Y778, M1W848, P07772, P08088, P0A2D1, P0A2D2, P0DKC5, P0DKC6, P0DXE1, P13859, P14061, P14802, P15047, P16542, P28643, P31808, P35320, P37440, P42317, P51656, P51657, P52037, P55541, P59837, P66778, P73574
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 39 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Keratinization | 19 | 34.1× | 2e-24 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1453 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:24291626:C:CC | acceptor_gain | 1.0000 |
| 14:24292179:CCAA:C | donor_loss | 1.0000 |
| 14:24292181:AAC:A | donor_loss | 1.0000 |
| 14:24292182:ACCT:A | donor_loss | 1.0000 |
| 14:24292183:C:G | donor_loss | 1.0000 |
| 14:24292212:T:TA | donor_gain | 1.0000 |
| 14:24292215:T:TA | donor_gain | 1.0000 |
| 14:24292327:CACA:C | acceptor_gain | 1.0000 |
| 14:24292329:CA:C | acceptor_gain | 1.0000 |
| 14:24292331:C:CC | acceptor_gain | 1.0000 |
| 14:24296504:CCCA:C | donor_loss | 1.0000 |
| 14:24296506:CA:C | donor_loss | 1.0000 |
| 14:24296508:C:CA | donor_loss | 1.0000 |
| 14:24296585:TCGT:T | acceptor_gain | 1.0000 |
| 14:24296586:CGT:C | acceptor_gain | 1.0000 |
| 14:24296586:CGTC:C | acceptor_gain | 1.0000 |
| 14:24296589:C:CC | acceptor_gain | 1.0000 |
| 14:24299576:CTTAC:C | donor_loss | 1.0000 |
| 14:24299577:TTA:T | donor_loss | 1.0000 |
| 14:24299578:TACCT:T | donor_loss | 1.0000 |
| 14:24299579:A:T | donor_loss | 1.0000 |
| 14:24299580:C:A | donor_loss | 1.0000 |
| 14:24291621:TTGAA:T | acceptor_gain | 0.9900 |
| 14:24291622:TGAA:T | acceptor_gain | 0.9900 |
| 14:24292147:C:A | donor_gain | 0.9900 |
| 14:24292173:C:A | donor_gain | 0.9900 |
| 14:24292183:CCTG:C | donor_gain | 0.9900 |
| 14:24292186:G:A | donor_gain | 0.9900 |
| 14:24292196:AGGAT:A | donor_gain | 0.9900 |
| 14:24292200:T:TA | donor_gain | 0.9900 |
AlphaMissense
2011 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:24296537:A:G | W116R | 0.996 |
| 14:24296537:A:T | W116R | 0.996 |
| 14:24296535:C:A | W116C | 0.993 |
| 14:24296535:C:G | W116C | 0.993 |
| 14:24292710:G:A | S150F | 0.991 |
| 14:24292659:T:A | K167I | 0.986 |
| 14:24292710:G:T | S150Y | 0.985 |
| 14:24296559:G:C | F108L | 0.983 |
| 14:24296559:G:T | F108L | 0.983 |
| 14:24296561:A:G | F108L | 0.983 |
| 14:24291584:A:C | S232R | 0.982 |
| 14:24291584:A:T | S232R | 0.982 |
| 14:24291586:T:G | S232R | 0.982 |
| 14:24296536:C:G | W116S | 0.981 |
| 14:24296759:G:C | N91K | 0.981 |
| 14:24296759:G:T | N91K | 0.981 |
| 14:24296763:A:T | V90D | 0.980 |
| 14:24292759:C:A | G134W | 0.978 |
| 14:24296558:A:G | W109R | 0.977 |
| 14:24296558:A:T | W109R | 0.977 |
| 14:24291582:C:T | G233D | 0.975 |
| 14:24292653:G:T | A169E | 0.975 |
| 14:24292758:C:T | G134E | 0.975 |
| 14:24299048:C:T | G20D | 0.975 |
| 14:24299055:C:G | G18R | 0.975 |
| 14:24292245:G:A | T198I | 0.974 |
| 14:24299006:A:T | V34D | 0.974 |
| 14:24291582:C:A | G233V | 0.973 |
| 14:24292264:A:G | W192R | 0.973 |
| 14:24292264:A:T | W192R | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000065403 (14:24290706 G>GCACCCCAGAACT), RS1000147165 (14:24297185 G>A), RS1000203991 (14:24299737 T>G), RS1000752062 (14:24291312 C>T), RS1000827936 (14:24299871 C>G,T), RS1000935069 (14:24298441 C>G), RS1001303626 (14:24297784 T>C), RS1001489980 (14:24294225 A>G), RS1001805162 (14:24297466 C>T), RS1002855739 (14:24290524 A>G), RS1003062732 (14:24293350 G>C,T), RS1003398510 (14:24291907 G>A), RS1003534757 (14:24291504 C>A,T), RS1004233335 (14:24296204 T>A), RS1004380258 (14:24299351 A>G)
Disease associations
OMIM: gene MIM:610410 | 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 |
|---|---|---|
| GCST002371_1 | Parent of origin effect on language impairment (paternal) | 4.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 3 |
| Valproic Acid | decreases methylation, increases expression, decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| Leflunomide | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Curcumin | decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Diuron | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| NADP | affects binding, increases activity | 1 |
| Thimerosal | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SK77 | HAP1 DHRS1 (-) 1 | Cancer cell line | Male |
| CVCL_XN25 | HAP1 DHRS1 (-) 2 | Cancer cell line | Male |
| CVCL_XN26 | HAP1 DHRS1 (-) 3 | Cancer cell line | Male |
| CVCL_XN27 | HAP1 DHRS1 (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): specific language impairment 5