DHRS11
geneOn this page
Also known as MGC4172SDR24C1
Summary
DHRS11 (dehydrogenase/reductase 11, HGNC:28639) is a protein-coding gene on chromosome 17q12, encoding Dehydrogenase/reductase SDR family member 11 (Q6UWP2). Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta-hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3beta-hydroxyl metabolites.
Enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity; 3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity; and estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Involved in steroid biosynthetic process. Predicted to be located in extracellular region.
Source: NCBI Gene 79154 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 52 total — 2 pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_024308
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28639 |
| Approved symbol | DHRS11 |
| Name | dehydrogenase/reductase 11 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC4172, SDR24C1 |
| Ensembl gene | ENSG00000278535 |
| Ensembl biotype | protein_coding |
| OMIM | 616159 |
| Entrez | 79154 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 16 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000610443, ENST00000611337, ENST00000612205, ENST00000612538, ENST00000615432, ENST00000617959, ENST00000618403, ENST00000621871, ENST00000852272, ENST00000852273, ENST00000852274, ENST00000852275, ENST00000852276, ENST00000852277, ENST00000852278, ENST00000852279, ENST00000940549, ENST00000940550, ENST00000951342, ENST00000951343
RefSeq mRNA: 1 — MANE Select: NM_024308
NM_024308
CCDS: CCDS11315
Canonical transcript exons
ENST00000618403 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003717924 | 36598163 | 36598257 |
| ENSE00003725716 | 36599972 | 36600037 |
| ENSE00003744600 | 36600162 | 36600804 |
| ENSE00003747785 | 36599671 | 36599763 |
| ENSE00003748814 | 36598921 | 36599050 |
| ENSE00003749575 | 36594971 | 36595180 |
| ENSE00003754415 | 36591879 | 36592156 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.8854 / max 517.6657, expressed in 1635 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160437 | 9.8228 | 1633 |
| 160438 | 0.0626 | 19 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 99.17 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.96 | gold quality |
| rectum | UBERON:0001052 | 97.26 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.28 | gold quality |
| transverse colon | UBERON:0001157 | 94.09 | gold quality |
| small intestine | UBERON:0002108 | 94.06 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.65 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 91.05 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.40 | gold quality |
| intestine | UBERON:0000160 | 90.14 | gold quality |
| frontal cortex | UBERON:0001870 | 90.00 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.91 | gold quality |
| apex of heart | UBERON:0002098 | 89.83 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.81 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.74 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.46 | gold quality |
| putamen | UBERON:0001874 | 89.29 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.24 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.10 | gold quality |
| colon | UBERON:0001155 | 88.69 | gold quality |
| hypothalamus | UBERON:0001898 | 88.33 | gold quality |
| caudate nucleus | UBERON:0001873 | 87.89 | gold quality |
| nucleus accumbens | UBERON:0001882 | 87.77 | gold quality |
| brain | UBERON:0000955 | 87.75 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 87.15 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.14 | gold quality |
| Ammon’s horn | UBERON:0001954 | 86.97 | gold quality |
| temporal lobe | UBERON:0001871 | 86.94 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.94 | gold quality |
| amygdala | UBERON:0001876 | 86.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting DHRS11, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-1287-3P | 99.63 | 66.93 | 492 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-4450 | 98.26 | 68.35 | 725 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
Literature-anchored findings (GeneRIF, showing 2)
- The recombinant protein (DHRS11) efficiently catalyzed the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5alpha-androstanes into their 17beta-hydroxyl metabolites with NADPH as a coenzyme. (PMID:26920053)
- Human dehydrogenase/reductase SDR family member 11 (DHRS11) and aldo-keto reductase 1C isoforms in comparison: Substrate and reaction specificity in the reduction of 11-keto-C19-steroids. (PMID:31926269)
Cross-species orthologs
18 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dhrs11a | ENSDARG00000046090 |
| mus_musculus | Dhrs11 | ENSMUSG00000034449 |
| rattus_norvegicus | Dhrs11 | ENSRNOG00000027891 |
| drosophila_melanogaster | Antdh | FBGN0026268 |
| drosophila_melanogaster | CG10962 | FBGN0030073 |
| drosophila_melanogaster | CG9360 | FBGN0030332 |
| drosophila_melanogaster | CG9150 | FBGN0031775 |
| drosophila_melanogaster | CG8757 | FBGN0036380 |
| drosophila_melanogaster | CG3301 | FBGN0038878 |
| drosophila_melanogaster | CG40485 | FBGN0069973 |
| drosophila_melanogaster | CG40486 | FBGN0263830 |
| caenorhabditis_elegans | WBGENE00000970 | |
| caenorhabditis_elegans | WBGENE00000975 | |
| caenorhabditis_elegans | WBGENE00000981 | |
| caenorhabditis_elegans | WBGENE00008985 | |
| caenorhabditis_elegans | WBGENE00008986 | |
| caenorhabditis_elegans | WBGENE00011424 | |
| caenorhabditis_elegans | WBGENE00022809 |
Paralogs (13): RDH8 (ENSG00000080511), DHRS7 (ENSG00000100612), DHRS2 (ENSG00000100867), DHRS7B (ENSG00000109016), HSD11B1 (ENSG00000117594), HSDL2 (ENSG00000119471), DHRS4 (ENSG00000157326), DHRS1 (ENSG00000157379), CBR1 (ENSG00000159228), CBR3 (ENSG00000159231), HSD11B1L (ENSG00000167733), DHRS7C (ENSG00000184544), DHRS4L2 (ENSG00000187630)
Protein
Protein identifiers
Dehydrogenase/reductase SDR family member 11 — Q6UWP2 (reviewed: Q6UWP2)
Alternative names: 17-beta-hydroxysteroid dehydrogenase, 3-beta-hydroxysteroid 3-dehydrogenase, Estradiol 17-beta-dehydrogenase, Short-chain dehydrogenase/reductase family 24C member 1
All UniProt accessions (4): Q6UWP2, A0A087WYV4, A0A087WZN3, A0A087X0R1
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta-hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3beta-hydroxyl metabolites. Exhibits reductive 3-beta-hydroxysteroid dehydrogenase activity toward 5-beta-androstanes, 5-beta-pregnanes, 4-pregnenes and bile acids. May contribute to the metabolism of adrenal-derived androgen precursors. Reduces 11-keto-4-androstene-3,17-dione (11KA4) and 11-keto-5alpha-androstane-3,17-dione (11K-Adione) into potent androgens 11-ketotestosterone (11KT) and 11-ketodihydrotestosterone (11KDHT), respectively. May also reduce endogenous and exogenous alpha-dicarbonyl compounds and xenobiotic alicyclic ketones.
Subunit / interactions. Homotetramer.
Subcellular location. Secreted.
Tissue specificity. Isoform 1: Ubiquitously expressed, with highest levels in testis, small intestine, colon, kidney, brain and heart. Isoform 3: Expressed in brain, heart and skeletal muscle.
Activity regulation. Inhibited by flavonoids including apigenin, luteolin, genistein, kaempferol and quercetin and also by carbenoxolone, zearalenone, glycyrrhetinic, curcumin and flufenamic acid.
Pathway. Steroid biosynthesis; estrogen biosynthesis.
Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UWP2-1 | 1 | yes |
| Q6UWP2-2 | 2 | |
| Q6UWP2-3 | 3 |
RefSeq proteins (1): NP_077284* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002347 | SDR_fam | Family |
| IPR020904 | Sc_DH/Rdtase_CS | Conserved_site |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
Pfam: PF00106
Catalyzed reactions (Rhea), 6 shown:
- 17beta-estradiol + NADP(+) = estrone + NADPH + H(+) (RHEA:24616)
- a 3beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + NADPH + H(+) (RHEA:34787)
- androst-4-ene-3,11,17-trione + NADPH + H(+) = 17beta-hydroxyandrost-4-ene-3,11-dione + NADP(+) (RHEA:53484)
- a 17beta-hydroxy steroid + NADP(+) = a 17-oxo steroid + NADPH + H(+) (RHEA:69284)
- 5alpha-androstan-3,11,17-trione + NADPH + H(+) = 17beta-hydroxy-5alpha-androstan-3,11-dione + NADP(+) (RHEA:85531)
- 3alpha-hydroxy-5alpha-androstan-11,17-dione + NADPH + H(+) = 3alpha,17beta-dihydroxy-5alpha-androstan-11-one + NADP(+) (RHEA:85543)
UniProt features (41 total): helix 12, binding site 11, strand 7, splice variant 2, mutagenesis site 2, turn 2, signal peptide 1, chain 1, site 1, sequence conflict 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1XG5 | X-RAY DIFFRACTION | 1.53 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UWP2-F1 | 97.78 | 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): 200 (important for the strict 17beta-hydroxysteroid dehydrogenase activity); 166 (proton acceptor)
Ligand- & substrate-binding residues (11): 166; 170; 201–204; 208; 18–23; 43–44; 49; 70–71; 97; 151; 166
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 163 | decreases the reductase activity toward androstane substrates including androst-4-ene-3,11,17-trione (11ka4), 5alpha-and |
| 200 | switches the positional specificity of the reductase activity from 17beta to 3beta. acquires 3beta-hydroxysteroid dehydr |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 114 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, TGACCTY_ERR1_Q2, MODULE_453, GGGTGGRR_PAX4_03, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, CATRRAGC_UNKNOWN, GTGTTGA_MIR505, GOBP_HORMONE_BIOSYNTHETIC_PROCESS, GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, SABATES_COLORECTAL_ADENOMA_DN, BASAKI_YBX1_TARGETS_UP
GO Biological Process (4): steroid biosynthetic process (GO:0006694), estrogen biosynthetic process (GO:0006703), lipid metabolic process (GO:0006629), steroid metabolic process (GO:0008202)
GO Molecular Function (7): nucleotide binding (GO:0000166), 3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity (GO:0000253), estradiol 17-beta-dehydrogenase [NAD(P)+] activity (GO:0004303), 17-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0072582), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)
GO Cellular Component (1): extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 3 |
| steroid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| estrogen metabolic process | 1 |
| hormone biosynthetic process | 1 |
| steroid hormone biosynthetic process | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
3481 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DHRS11 | HSD17B1 | P14061 | 964 |
| DHRS11 | HSD17B2 | P37059 | 935 |
| DHRS11 | HSD17B4 | P51659 | 922 |
| DHRS11 | HSD17B7 | P56937 | 897 |
| DHRS11 | HSD17B10 | Q99714 | 884 |
| DHRS11 | HSD3B1 | P14060 | 882 |
| DHRS11 | FSIP1 | Q8NA03 | 881 |
| DHRS11 | CYP19A1 | P11511 | 850 |
| DHRS11 | CYP17A1 | P05093 | 837 |
| DHRS11 | HSD3B2 | P26439 | 808 |
| DHRS11 | STAR | P49675 | 738 |
| DHRS11 | ESR1 | P03372 | 738 |
| DHRS11 | HSD11B2 | P80365 | 728 |
| DHRS11 | AKR1C3 | P42330 | 727 |
| DHRS11 | CYP11A1 | P05108 | 718 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYREN | ACOX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): DHRS11 (Co-fractionation), HARS (Co-fractionation), NAPRT (Co-fractionation), TPI1 (Co-fractionation), TSTA3 (Co-fractionation), DHRS11 (Two-hybrid), DHRS11 (Affinity Capture-MS), DHRS11 (Affinity Capture-MS), DHRS11 (Affinity Capture-MS)
ESM2 similar proteins: A0A223HDI5, A3QK15, O00097, P00333, P00504, P04181, P04182, P07754, P08843, P0C0Y4, P0C0Y5, P12863, P14219, P14673, P14674, P14675, P25141, P28032, P29401, P29758, P33097, P34937, P37769, P40142, P41177, P41747, P46226, P48491, P48493, P48494, P48495, P49724, P50137, Q05528, Q07264, Q0II68, Q29RZ0, Q2R8Z5, Q2U919, Q3ZCF5
Diamond homologs: A0A017SEY2, A0A023I4F1, A0A0C6DRT7, A0A1B7YCL6, A0A2P1DP77, A0A345BJN5, A0A482ND39, A0A4P8DJW5, A0A5B8YU33, A0AAW1NHX6, A2RVM0, B2X050, B6H062, B6HLP6, B8M9L2, C8V3Y7, D7UQ42, F4JJR8, G1XTZ5, G3Y422, G4MVZ5, G9N4A1, G9N4A6, I1S2J3, O48741, O75828, O80333, P00335, P0DXW2, P15428, P16232, P19992, P21218, P28845, P42317, P50199, P50203, P51975, P70684, P9WEF8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2580315 | GRCh37/hg19 17q12(chr17:34752221-36105007)x3 | Pathogenic |
| 997073 | GRCh37/hg19 17q12(chr17:34437475-36243028) | Pathogenic |
SpliceAI
1575 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:36592156:GGT:G | donor_loss | 1.0000 |
| 17:36592157:GTG:G | donor_loss | 1.0000 |
| 17:36595181:G:GG | donor_gain | 1.0000 |
| 17:36598158:TGCAG:T | acceptor_loss | 1.0000 |
| 17:36598160:CAGG:C | acceptor_loss | 1.0000 |
| 17:36598254:A:AG | donor_gain | 1.0000 |
| 17:36598254:ATAG:A | donor_loss | 1.0000 |
| 17:36598258:G:GA | donor_loss | 1.0000 |
| 17:36598919:A:AG | acceptor_gain | 1.0000 |
| 17:36598919:AGCAT:A | acceptor_gain | 1.0000 |
| 17:36598920:G:GA | acceptor_gain | 1.0000 |
| 17:36598920:GC:G | acceptor_gain | 1.0000 |
| 17:36598920:GCAT:G | acceptor_gain | 1.0000 |
| 17:36598920:GCATG:G | acceptor_gain | 1.0000 |
| 17:36599049:CGGT:C | donor_loss | 1.0000 |
| 17:36599050:GGTGA:G | donor_loss | 1.0000 |
| 17:36599051:G:GG | donor_gain | 1.0000 |
| 17:36599051:GT:G | donor_loss | 1.0000 |
| 17:36599820:G:GT | donor_gain | 1.0000 |
| 17:36599820:G:T | donor_gain | 1.0000 |
| 17:36599960:T:TA | acceptor_gain | 1.0000 |
| 17:36599970:A:AG | acceptor_gain | 1.0000 |
| 17:36599971:G:GG | acceptor_gain | 1.0000 |
| 17:36599971:GT:G | acceptor_gain | 1.0000 |
| 17:36595162:TTGG:T | donor_gain | 0.9900 |
| 17:36595179:AT:A | donor_gain | 0.9900 |
| 17:36595181:G:A | donor_loss | 0.9900 |
| 17:36598153:T:TA | acceptor_gain | 0.9900 |
| 17:36598154:G:A | acceptor_gain | 0.9900 |
| 17:36598161:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
1691 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:36599677:T:C | S197P | 0.997 |
| 17:36592062:G:A | G18E | 0.996 |
| 17:36592080:G:A | G24D | 0.996 |
| 17:36595111:C:A | N96K | 0.996 |
| 17:36595111:C:G | N96K | 0.996 |
| 17:36595163:T:A | W114R | 0.996 |
| 17:36595163:T:C | W114R | 0.996 |
| 17:36598181:A:C | S126R | 0.996 |
| 17:36598183:C:A | S126R | 0.996 |
| 17:36598183:C:G | S126R | 0.996 |
| 17:36598194:G:C | R130P | 0.996 |
| 17:36592061:G:T | G18W | 0.995 |
| 17:36598929:G:A | G154D | 0.995 |
| 17:36598971:C:A | A168D | 0.995 |
| 17:36598978:G:C | K170N | 0.995 |
| 17:36598978:G:T | K170N | 0.995 |
| 17:36599019:T:C | L184P | 0.995 |
| 17:36592128:G:A | G40D | 0.994 |
| 17:36598168:C:A | N121K | 0.994 |
| 17:36598168:C:G | N121K | 0.994 |
| 17:36598187:T:C | C128R | 0.994 |
| 17:36599675:T:A | I196N | 0.994 |
| 17:36599696:C:T | T203I | 0.994 |
| 17:36598199:G:C | A132P | 0.993 |
| 17:36598974:C:T | T169I | 0.993 |
| 17:36598977:A:C | K170T | 0.993 |
| 17:36598977:A:T | K170M | 0.993 |
| 17:36598983:C:A | A172D | 0.993 |
| 17:36598995:T:C | L176P | 0.993 |
| 17:36599007:T:C | L180P | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000369345 (17:36594414 C>G,T), RS1000396745 (17:36594744 A>G), RS1000546280 (17:36590670 A>G), RS1000970103 (17:36593110 G>A), RS1001525507 (17:36593091 C>T), RS1001758585 (17:36599745 C>A,T), RS1001917231 (17:36598553 T>C,G), RS1001974175 (17:36592080 G>A), RS1002210857 (17:36599450 C>G,T), RS1002977432 (17:36590607 T>C), RS1003107862 (17:36596515 C>A,G,T), RS1003407692 (17:36590931 A>G), RS1003499980 (17:36597148 T>A,C), RS1003643541 (17:36593450 A>G), RS1003719555 (17:36596874 A>G)
Disease associations
OMIM: gene MIM:616159 | disease phenotypes: MIM:616025, MIM:614527
GenCC curated gene-disease
Mondo (3): hyperphosphatasia with intellectual disability syndrome 5 (MONDO:0014457), chromosome 17q12 deletion syndrome (MONDO:0013797), polyhydramnios (MONDO:0004585)
Orphanet (2): Hyperphosphatasia-intellectual disability syndrome (Orphanet:247262), 17q12 microdeletion syndrome (Orphanet:261265)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001561 | Polyhydramnios |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_15 | Body mass index | 3.000000e-13 |
| GCST007876_78 | Estimated glomerular filtration rate | 2.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006831 | Polyhydramnios | C12.050.703.610 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
86 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 3 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| 9,10-phenanthrenequinone | increases reduction | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| kaempferol | decreases activity | 1 |
| androstane-3,17-dione | increases reduction | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| quercitrin | decreases activity | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | decreases expression, increases abundance | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| estrone sulfate | increases reduction | 1 |
| monomethylarsonic acid | decreases expression | 1 |
| zomepirac | decreases activity | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| acenaphthenequinone | increases reduction | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| arsenic acid | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
7 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01238250 | Not specified | RECRUITING | Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight |
| NCT00236340 | Not specified | COMPLETED | Syringe or Continuous Amnioreduction for Symptomatic Polyhydramnios. A Prospective Randomized Study. |
| NCT03277417 | Not specified | UNKNOWN | Does Amniotic Fluid Index Affect the Fetal Cardiac Performance? |
| NCT04497532 | Not specified | UNKNOWN | Influence of Diet on Pregnancy With Polyhydramnios |
| NCT05043753 | Not specified | RECRUITING | Fetal gRowth AbnorMality dEtection Trial |
| NCT05059093 | Not specified | COMPLETED | Developing and Testing AI Models for Fetal Biometry and Amniotic Volume Assessment in Fetal Ultrasound Scans. |
| NCT07067593 | Not specified | NOT_YET_RECRUITING | Amnioreduction in Polyhydramnios |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chromosome 17q12 deletion syndrome, hyperphosphatasia with intellectual disability syndrome 5, polyhydramnios