HSD17B6

Summary

HSD17B6 (hydroxysteroid 17-beta dehydrogenase 6, HGNC:23316) is a protein-coding gene on chromosome 12q13.3, encoding 17-beta-hydroxysteroid dehydrogenase type 6 (O14756). NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro).

The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family.

Source: NCBI Gene 8630 — RefSeq curated summary.

At a glance

• GWAS associations: 64
• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_003725

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23316
Approved symbol	HSD17B6
Name	hydroxysteroid 17-beta dehydrogenase 6
Location	12q13.3
Locus type	gene with protein product
Status	Approved
Aliases	HSE, RODH, SDR9C6
Ensembl gene	ENSG00000025423
Ensembl biotype	protein_coding
OMIM	606623
Entrez	8630

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 42 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000322165, ENST00000553476, ENST00000554150, ENST00000554155, ENST00000554643, ENST00000555159, ENST00000555805, ENST00000556481, ENST00000556650, ENST00000556875, ENST00000859656, ENST00000859657, ENST00000859658, ENST00000859659, ENST00000859660, ENST00000859661, ENST00000859662, ENST00000859663, ENST00000859664, ENST00000859665, ENST00000859666, ENST00000859667, ENST00000859668, ENST00000859669, ENST00000859670, ENST00000859671, ENST00000859672, ENST00000859673, ENST00000859674, ENST00000859675, ENST00000859676, ENST00000859677, ENST00000859678, ENST00000859679, ENST00000859680, ENST00000859681, ENST00000859682, ENST00000859683, ENST00000859684, ENST00000859685, ENST00000932942, ENST00000932943, ENST00000932944, ENST00000942501, ENST00000942502

RefSeq mRNA: 1 — MANE Select: NM_003725 NM_003725

CCDS: CCDS8925

Canonical transcript exons

ENST00000322165 — 5 exons

Exon	Start	End
ENSE00001146820	56784853	56785016
ENSE00001243253	56781974	56782232
ENSE00001362824	56773834	56774165
ENSE00001362830	56763324	56763414
ENSE00001379830	56787125	56787790

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 99.32.

FANTOM5 (CAGE): breadth broad, TPM avg 3.0455 / max 891.0039, expressed in 279 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126129	2.0242	160
126130	0.4674	118
126131	0.3370	89
126128	0.1324	42
126127	0.0846	36

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.32	gold quality
liver	UBERON:0002107	97.94	gold quality
lower lobe of lung	UBERON:0008949	95.02	gold quality
seminal vesicle	UBERON:0000998	93.44	gold quality
parietal pleura	UBERON:0002400	92.44	gold quality
spleen	UBERON:0002106	92.13	gold quality
endocervix	UBERON:0000458	89.95	gold quality
saphenous vein	UBERON:0007318	89.88	gold quality
caudate nucleus	UBERON:0001873	89.81	gold quality
nucleus accumbens	UBERON:0001882	89.06	gold quality
prostate gland	UBERON:0002367	88.91	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.80	gold quality
pleura	UBERON:0000977	88.00	gold quality
right lung	UBERON:0002167	87.39	gold quality
urinary bladder	UBERON:0001255	87.29	gold quality
urethra	UBERON:0000057	87.13	gold quality
putamen	UBERON:0001874	87.13	gold quality
adult organism	UBERON:0007023	86.98	gold quality
upper lobe of lung	UBERON:0008948	86.66	gold quality
myometrium	UBERON:0001296	86.58	gold quality
lung	UBERON:0002048	86.51	gold quality
upper lobe of left lung	UBERON:0008952	86.18	gold quality
amygdala	UBERON:0001876	85.61	gold quality
body of uterus	UBERON:0009853	85.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.40	gold quality
right lobe of thyroid gland	UBERON:0001119	85.02	gold quality
ectocervix	UBERON:0012249	84.47	gold quality
sigmoid colon	UBERON:0001159	84.32	gold quality
right frontal lobe	UBERON:0002810	83.75	gold quality
thyroid gland	UBERON:0002046	83.07	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	65.45
E-MTAB-10553	yes	30.88
E-HCAD-11	yes	11.21
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HSF1

miRNA regulators (miRDB)

28 targeting HSD17B6, 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-3646	100.00	73.56	5283
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-1278	97.75	67.55	628
HSA-MIR-4329	97.68	66.26	1003
HSA-MIR-3200-5P	97.34	65.97	826
HSA-MIR-4714-5P	97.04	67.76	955
HSA-MIR-514A-5P	96.94	65.49	801
HSA-MIR-3664-5P	96.74	66.56	770
HSA-MIR-664B-5P	96.74	67.50	509
HSA-MIR-624-5P	96.00	68.88	728
HSA-MIR-4474-5P	94.23	67.95	568

Literature-anchored findings (GeneRIF, showing 9)

• These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder. (PMID:17070195)
• RoDH enzymes are expressed in tissues that have microsomal 3alpha-hydroxysteroid dehydrogenase/epimerase activities (PMID:17289849)
• These replication data suggest a role for HSD17B6 in polycystic ovary syndrome (PMID:19837928)
• data suggest that there is no association of HSD17B6 and HSD17B5 variants with the occurrence of polycystic ovary syndrome in the Chinese population (PMID:21039282)
• 17beta-hydroxysteroid dehydrogenase type 6 (17betaHSD6) converts the androgen DHT to the estrogen 3beta-Adiol, and this leads to activation of the ERbeta reporter. (PMID:22114194)
• the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower. (PMID:24244276)
• No significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls. (PMID:25422294)
• Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias. (PMID:32732174)
• HSD17B6 delays type 2 diabetes development via inhibiting SREBP activation. (PMID:37330135)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Hsd17b6	ENSMUSG00000025396
rattus_norvegicus	Hsd17b6	ENSRNOG00000002597
rattus_norvegicus		ENSRNOG00000067654

Paralogs (25): RDH11 (ENSG00000072042), HSD17B10 (ENSG00000072506), DHRS9 (ENSG00000073737), 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

17-beta-hydroxysteroid dehydrogenase type 6 — O14756 (reviewed: O14756)

Alternative names: 3-alpha->beta-hydroxysteroid epimerase, Oxidative 3-alpha hydroxysteroid dehydrogenase, Short chain dehydrogenase/reductase family 9C member 6

All UniProt accessions (4): A0A219KCD5, O14756, G3V3Y9, G3V508

UniProt curated annotations — full annotation on UniProt →

Function. NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids.

Subcellular location. Microsome membrane. Early endosome membrane.

Tissue specificity. Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver and brain.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

RefSeq proteins (1): NP_003716* (*=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

Enzyme classification (BRENDA):

• EC 1.1.1.62 — 17beta-estradiol 17-dehydrogenase (BRENDA: 20 organisms, 283 substrates, 790 inhibitors, 95 Km, 44 kcat entries)

Substrate kinetics (BRENDA)

32 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
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
TESTOSTERONE	0.0071–0.263	4
DEHYDROEPIANDROSTERONE	0.0172–0.0598	3
5-ANDROSTENE-3BETA,17BETA-DIOL	0.0066–0.0078	2
5ALPHA-DIHYDROTESTOSTERONE	0.0067–0.118	2
5BETA-PREGNAN-20ALPHA-OL-3-ONE	0.0011–0.0033	2
DIHYDROTESTOSTERONE	0.0043–0.033	2
NAD+	0.357–0.5	2
(S)-INDAN-1-OL	0.508	1
1-METHYL-6-DEHYDROESTRADIOL	0.0085	1

Catalyzed reactions (Rhea), 10 shown:

• testosterone + NAD(+) = androst-4-ene-3,17-dione + NADH + H(+) (RHEA:14929)
• androsterone + NAD(+) = 5alpha-androstan-3,17-dione + NADH + H(+) (RHEA:20381)
• all-trans-retinol + NAD(+) = all-trans-retinal + NADH + H(+) (RHEA:21284)
• 17beta-estradiol + NAD(+) = estrone + NADH + H(+) (RHEA:24612)
• 17beta-estradiol + NADP(+) = estrone + NADPH + H(+) (RHEA:24616)
• 3alpha-hydroxy-5alpha-pregnan-20-one + NAD(+) = 5alpha-pregnane-3,20-dione + NADH + H(+) (RHEA:41980)
• 5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + NADH + H(+) (RHEA:42004)
• 5alpha-androstane-3beta,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + NADH + H(+) (RHEA:42184)
• 3beta-hydroxy-5alpha-androstan-17-one + NAD(+) = 5alpha-androstan-3,17-dione + NADH + H(+) (RHEA:42188)
• all-trans-retinol–[retinol-binding protein] + NAD(+) = all-trans-retinal–[retinol-binding protein] + NADH + H(+) (RHEA:48488)

UniProt features (10 total): glycosylation site 3, binding site 2, sequence conflict 2, signal peptide 1, chain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14756-F1	95.81	0.94

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 (2): 33–57; 164

Glycosylation sites (3): 161, 215, 256

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)

MSigDB gene sets: 155 (showing top): MODULE_93, GNF2_GSTM1, GNF2_HPN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, GOBP_ANDROGEN_BIOSYNTHETIC_PROCESS, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, ROZANOV_MMP14_TARGETS_UP, GNF2_LCAT, GOBP_HORMONE_BIOSYNTHETIC_PROCESS, GOBP_STEROID_BIOSYNTHETIC_PROCESS, CAIRO_HEPATOBLASTOMA_DN

GO Biological Process (6): androgen biosynthetic process (GO:0006702), androgen catabolic process (GO:0006710), steroid metabolic process (GO:0008202), retinol metabolic process (GO:0042572), brexanolone catabolic process (GO:0062175), lipid metabolic process (GO:0006629)

GO Molecular Function (11): catalytic activity (GO:0003824), estradiol 17-beta-dehydrogenase [NAD(P)+] activity (GO:0004303), all-trans-retinol dehydrogenase (NAD+) activity (GO:0004745), electron transfer activity (GO:0009055), oxidoreductase activity (GO:0016491), androsterone dehydrogenase [NAD(P)+] activity (GO:0047023), 5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activity (GO:0047024), testosterone dehydrogenase (NAD+) activity (GO:0047035), androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity (GO:0047044), testosterone dehydrogenase (NADP+) activity (GO:0047045), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)

GO Cellular Component (4): early endosome membrane (GO:0031901), endosome (GO:0005768), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Visual phototransduction	1

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	4
androgen metabolic process	2
steroid catabolic process	2
molecular_function	2
endomembrane system	2
hormone biosynthetic process	1
steroid hormone biosynthetic process	1
hormone catabolic process	1
lipid metabolic process	1
retinoid metabolic process	1
primary alcohol metabolic process	1
hormone metabolic process	1
olefinic compound metabolic process	1
ketone catabolic process	1
brexanolone metabolic process	1
primary metabolic process	1
alcohol dehydrogenase (NAD+) activity	1
catalytic activity	1
17-beta-hydroxysteroid dehydrogenase (NAD+) activity	1
17-beta-hydroxysteroid dehydrogenase (NADP+) activity	1
oxidoreductase activity, acting on CH-OH group of donors	1
early endosome	1
endosome membrane	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

666 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSD17B6	AKR1C3	P42330	786
HSD17B6	SRD5A1	P18405	770
HSD17B6	CYP17A1	P05093	711
HSD17B6	RBP1	P09455	628
HSD17B6	AKR1C2	P52895	613
HSD17B6	AKR1C4	P17516	579
HSD17B6	HSD3B2	P26439	535
HSD17B6	HSD3B1	P14060	534
HSD17B6	HSD17B3	P37058	532
HSD17B6	HSD17B10	Q99714	531
HSD17B6	SRD5A2	P31213	528
HSD17B6	AKR1C1	P52896	517
HSD17B6	CYP11A1	P05108	497
HSD17B6	ENG	P17813	471
HSD17B6	AR	P10275	434

IntAct

9 interactions, top by confidence:

A	B	Type	Score
HSD17B6	NME2P1	psi-mi:“MI:0914”(association)	0.530
ATP2B2	GPR89A	psi-mi:“MI:0914”(association)	0.350
TEX101	PSMD12	psi-mi:“MI:0914”(association)	0.350
TEX101	NDUFA4	psi-mi:“MI:0914”(association)	0.350
ATP2B2	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (31): ATP12A (Affinity Capture-MS), NEFH (Affinity Capture-MS), ATP2B1 (Affinity Capture-MS), ATP2B4 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), ATP2B3 (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), TATDN1 (Affinity Capture-MS), PRTFDC1 (Affinity Capture-MS), SNX3 (Affinity Capture-MS), KPRP (Affinity Capture-MS), ATP2B3 (Affinity Capture-MS), ATP2B4 (Affinity Capture-MS), HSD17B6 (Affinity Capture-MS), PRTFDC1 (Affinity Capture-MS)

ESM2 similar proteins: A4IFM3, A5JYX5, A7LB60, B8A5W4, O14756, O54753, O54939, O88451, P0DKC5, P0DKC6, P0DKC7, P17636, P29147, P50170, P55006, P97501, Q02337, Q02338, Q05A13, Q0IH28, Q0VFE7, Q3SXM5, Q3T001, Q566S6, Q58NB6, Q5R7K0, Q5RJY4, Q6IAN0, Q7TQA3, Q80XN0, Q8HYR6, Q8K3P0, Q8K4B7, Q8L9C4, Q8N3Y7, Q8N5I4, Q8NEX9, Q8TC12, Q8VD48, Q8VHG0

Diamond homologs: A0A017SE81, A0A0E3D8L9, A0A0U1LQE2, A0A140JWS5, A0A2G0QDN4, A0A3R5XUE6, A0A5B8YU68, A0A8F5XX49, A7LB60, D2WKD9, F1QLP1, G4N286, G9N4A9, N4WE73, O05730, O14756, O16881, O54753, O55240, O67610, O74628, O75452, P0A2D1, P0A2D2, P0AFP4, P0AFP5, P0CU71, P0DKC5, P0DKC6, P15047, P16152, P25970, P29147, P37059, P37959, P39577, P40471, P50170, P54554, P66778

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

51 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	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1409 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56784851:A:AG	acceptor_gain	1.0000
12:56784851:AGG:A	acceptor_loss	1.0000
12:56784852:G:GG	acceptor_gain	1.0000
12:56784852:G:T	acceptor_loss	1.0000
12:56784852:GGC:G	acceptor_gain	1.0000
12:56784852:GGCGT:G	acceptor_gain	1.0000
12:56785000:GCA:G	donor_gain	1.0000
12:56785002:A:AG	donor_gain	1.0000
12:56785003:G:GG	donor_gain	1.0000
12:56785013:GCCC:G	donor_gain	1.0000
12:56785015:CC:C	donor_gain	1.0000
12:56785017:G:GG	donor_gain	1.0000
12:56787123:A:AG	acceptor_gain	1.0000
12:56787124:G:GG	acceptor_gain	1.0000
12:56752154:T:TA	donor_gain	0.9900
12:56752223:A:AC	donor_gain	0.9900
12:56752224:C:CC	donor_gain	0.9900
12:56752244:T:TA	donor_gain	0.9900
12:56763188:ATTTT:A	acceptor_gain	0.9900
12:56773826:ATT:A	acceptor_gain	0.9900
12:56773828:T:A	acceptor_gain	0.9900
12:56773832:A:AG	acceptor_gain	0.9900
12:56773833:G:GG	acceptor_gain	0.9900
12:56773833:GA:G	acceptor_gain	0.9900
12:56773833:GAGAA:G	acceptor_gain	0.9900
12:56774163:GAG:G	donor_gain	0.9900
12:56782160:G:T	donor_gain	0.9900
12:56784851:AGGC:A	acceptor_gain	0.9900
12:56784852:GGCG:G	acceptor_gain	0.9900
12:56784962:A:T	donor_gain	0.9900

AlphaMissense

2051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:56784905:T:C	F209L	0.986
12:56784907:C:A	F209L	0.986
12:56784907:C:G	F209L	0.986
12:56782150:A:C	S164R	0.982
12:56782152:C:A	S164R	0.982
12:56782152:C:G	S164R	0.982
12:56781993:C:A	N111K	0.981
12:56781993:C:G	N111K	0.981
12:56773973:T:C	F41L	0.979
12:56773975:T:A	F41L	0.979
12:56773975:T:G	F41L	0.979
12:56784884:A:C	S202R	0.978
12:56784886:C:A	S202R	0.978
12:56784886:C:G	S202R	0.978
12:56773947:T:A	V32D	0.977
12:56782139:T:A	V160D	0.976
12:56773953:T:A	I34N	0.974
12:56782186:T:C	Y176H	0.974
12:56781979:T:A	W107R	0.972
12:56781979:T:C	W107R	0.972
12:56782071:C:A	N137K	0.969
12:56782071:C:G	N137K	0.969
12:56773959:G:A	G36D	0.968
12:56782143:T:A	N161K	0.968
12:56782143:T:G	N161K	0.968
12:56782196:C:T	S179F	0.968
12:56782232:G:C	R191T	0.968
12:56773963:T:G	C37W	0.966
12:56782232:G:T	R191M	0.966
12:56782134:A:C	R158S	0.965

dbSNP variants (sampled 300 via entrez): RS1000076060 (12:56766645 C>A,T), RS1000126571 (12:56786404 C>G), RS1000198811 (12:56786604 C>A), RS1000238712 (12:56772762 C>G), RS1000403281 (12:56766270 C>T), RS1000469708 (12:56779159 C>T), RS1000614906 (12:56787030 T>C), RS1000770468 (12:56767504 A>G), RS1000836189 (12:56765994 A>G), RS1000890680 (12:56786075 C>A,G), RS1000990405 (12:56780749 T>C), RS1001142107 (12:56767648 T>C), RS1001244433 (12:56766679 A>C,G), RS1001571269 (12:56767056 AG>A), RS1001821528 (12:56780274 C>T)

Disease associations

OMIM: gene MIM:606623 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

64 associations (top):

Study	Trait	p-value
GCST000693_2	Platelet aggregation	1.000000e-06
GCST004603_109	Platelet count	4.000000e-22
GCST005996_51	Red blood cell count	1.000000e-09
GCST006904_13	Cerebral amyloid deposition (PET imaging)	7.000000e-06
GCST008916_110	Asthma	1.000000e-27
GCST008916_18	Asthma	8.000000e-18
GCST008916_2	Asthma	2.000000e-08
GCST010796_5001	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-13
GCST010796_5002	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-12
GCST010796_5003	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-12
GCST010796_5004	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-13
GCST010796_5005	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-12
GCST010796_5006	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_5007	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-15
GCST010796_5008	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-15
GCST010796_5009	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-15
GCST010796_5010	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-15
GCST010796_5011	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-16
GCST010796_5012	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-16
GCST010796_5013	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-16
GCST010796_5014	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-16
GCST010796_5015	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-17
GCST010796_5016	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-23
GCST010796_5017	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-24
GCST010796_5018	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-22
GCST010796_5019	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-21
GCST010796_5020	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-20
GCST010796_5021	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-18
GCST010796_5022	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-18
GCST010796_5023	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-21

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0004305	erythrocyte count
EFO:0007707	cerebral amyloid deposition measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

73 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects cotreatment, decreases expression, increases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, affects expression	3
Aflatoxin B1	affects expression, decreases expression, increases methylation	3
trichostatin A	affects cotreatment, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Estradiol	increases expression, decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
testosterone enanthate	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
propylparaben	decreases activity	1
bisphenol A	increases expression, affects cotreatment	1
ethyl-p-hydroxybenzoate	decreases activity	1
methylparaben	decreases activity	1
sodium arsenite	decreases expression	1
4-hydroxybenzophenone	decreases activity	1
benzo(e)pyrene	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
nickel sulfate	increases expression	1
2,2’,4,4’-tetrahydroxybenzophenone	decreases activity	1
butylparaben	decreases activity	1
enzacamene	decreases activity	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
benzylparaben	decreases activity	1
cetrorelix	affects cotreatment, decreases expression	1
fipronil	affects cotreatment, decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
epoxiconazole	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.