DHRS7

Summary

DHRS7 (dehydrogenase/reductase 7, HGNC:21524) is a protein-coding gene on chromosome 14q23.1, encoding Dehydrogenase/reductase SDR family member 7 (Q9Y394). NADPH-dependent oxidoreductase which catalyzes the reduction of a variety of compounds bearing carbonyl groups including steroids, retinoids and xenobiotics.

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics.

Source: NCBI Gene 51635 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_016029

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21524
Approved symbol	DHRS7
Name	dehydrogenase/reductase 7
Location	14q23.1
Locus type	gene with protein product
Status	Approved
Aliases	retDSR4, SDR34C1
Ensembl gene	ENSG00000100612
Ensembl biotype	protein_coding
OMIM	612833
Entrez	51635

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000216500, ENST00000536410, ENST00000553328, ENST00000553986, ENST00000554101, ENST00000555171, ENST00000556502, ENST00000557137, ENST00000557185, ENST00000557326, ENST00000557751, ENST00000931888

RefSeq mRNA: 4 — MANE Select: NM_016029 NM_001322280, NM_001322281, NM_001322282, NM_016029

CCDS: CCDS81810, CCDS9743

Canonical transcript exons

ENST00000557185 — 7 exons

Exon	Start	End
ENSE00002437735	60144119	60145013
ENSE00002513307	60165177	60165398
ENSE00003532660	60153959	60154065
ENSE00003556296	60152939	60153178
ENSE00003592756	60156000	60156152
ENSE00003894565	60150065	60150187
ENSE00003895113	60149353	60149568

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 99.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.3612 / max 758.6153, expressed in 1809 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143497	24.0862	1800
143496	19.8188	1784
143495	2.7837	1304
143498	0.6364	307
143501	0.0159	3
207242	0.0083	3
143499	0.0069	2
143500	0.0051	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	99.26	gold quality
gastrocnemius	UBERON:0001388	98.97	gold quality
muscle of leg	UBERON:0001383	98.67	gold quality
calcaneal tendon	UBERON:0003701	98.22	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.09	gold quality
saliva-secreting gland	UBERON:0001044	98.06	gold quality
left adrenal gland	UBERON:0001234	98.05	gold quality
blood	UBERON:0000178	97.99	gold quality
granulocyte	CL:0000094	97.96	gold quality
descending thoracic aorta	UBERON:0002345	97.94	gold quality
seminal vesicle	UBERON:0000998	97.89	gold quality
gluteal muscle	UBERON:0002000	97.88	gold quality
right adrenal gland cortex	UBERON:0035827	97.87	gold quality
monocyte	CL:0000576	97.86	gold quality
leukocyte	CL:0000738	97.86	gold quality
mononuclear cell	CL:0000842	97.83	gold quality
body of stomach	UBERON:0001161	97.83	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.82	gold quality
left adrenal gland cortex	UBERON:0035825	97.81	gold quality
minor salivary gland	UBERON:0001830	97.75	gold quality
right adrenal gland	UBERON:0001233	97.71	gold quality
prostate gland	UBERON:0002367	97.65	gold quality
islet of Langerhans	UBERON:0000006	97.61	gold quality
jejunal mucosa	UBERON:0000399	97.57	gold quality
left lobe of thyroid gland	UBERON:0001120	97.51	gold quality
adrenal gland	UBERON:0002369	97.49	gold quality
adrenal cortex	UBERON:0001235	97.48	gold quality
biceps brachii	UBERON:0001507	97.46	gold quality
right lobe of thyroid gland	UBERON:0001119	97.45	gold quality
small intestine	UBERON:0002108	97.40	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	64.39
E-CURD-122	yes	38.71
E-HCAD-31	yes	34.72
E-MTAB-7316	yes	29.53
E-GEOD-81608	yes	19.46
E-MTAB-5061	yes	16.07
E-CURD-114	yes	11.46
E-GEOD-106540	no	977.86
E-CURD-89	no	404.71
E-MTAB-6524	no	170.17
E-ENAD-27	no	10.16
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting DHRS7, 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-4795-3P	100.00	74.62	4024
HSA-MIR-12136	99.98	72.81	5713
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-9983-3P	99.94	71.48	3631
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-144-3P	99.94	73.98	2698
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-497-5P	99.92	71.83	2674

Literature-anchored findings (GeneRIF, showing 7)

• DHRS7 is another enzyme from SDR superfamily that have been proved, at least in vitro, to contribute to the metabolism of xenobiotics with carbonyl group. (PMID:24246760)
• DHRS7 containing TEV-cleavable His10 and FLAG-tag was cloned and expressed in the Sf9 cell line. (PMID:24316191)
• DHRS7 participates in the reductive metabolism of steroids and retinoids.Expression patterns of DHRS7 at the mRNA as well as protein level were determined in a panel of various human tissue samples. (PMID:26466768)
• Data suggest that (1) cortisone is a substrate of DHRS7 and is reduced to 20beta-dihydrocortisone, (2) androstenedione is not a relevant substrate of DHRS7, (3) DHRS7 catalyzes the oxidoreduction of 5alpha-dihydrotestosterone to 3alpha-androstanediol with a suppressive effect on androgen receptor transcriptional activity, and (4) DHRS7 is anchored in endoplasmic reticulum membrane with cytoplasmic orientation. (PMID:28457967)
• identification of new substrates of human DHRS7 (PMID:28687384)
• Single nucleotide polymorphism in DHRS7 gene is associated with smoking in African americans. (PMID:29216386)
• Reduction in Nuclear Size by DHRS7 in Prostate Cancer Cells and by Estradiol Propionate in DHRS7-Depleted Cells. (PMID:38201261)

Cross-species orthologs

14 orthologs

Organism	Symbol	Gene ID
danio_rerio	dhrs7	ENSDARG00000003444
mus_musculus	Dhrs7	ENSMUSG00000021094
mus_musculus	Dhrs7l	ENSMUSG00000109482
rattus_norvegicus	Dhrs7	ENSRNOG00000005589
rattus_norvegicus	Dhrs7l1	ENSRNOG00000025648
rattus_norvegicus	LOC120093108	ENSRNOG00000067058
drosophila_melanogaster	CG31937	FBGN0031360
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), DHRS2 (ENSG00000100867), DHRS7B (ENSG00000109016), HSD11B1 (ENSG00000117594), HSDL2 (ENSG00000119471), DHRS4 (ENSG00000157326), DHRS1 (ENSG00000157379), CBR1 (ENSG00000159228), CBR3 (ENSG00000159231), HSD11B1L (ENSG00000167733), DHRS7C (ENSG00000184544), DHRS4L2 (ENSG00000187630), DHRS11 (ENSG00000278535)

Protein

Protein identifiers

Dehydrogenase/reductase SDR family member 7 — Q9Y394 (reviewed: Q9Y394)

Alternative names: Retinal short-chain dehydrogenase/reductase 4, Short chain dehydrogenase/reductase family 34C member 1

All UniProt accessions (5): Q9Y394, G3V5J0, H0YJ66, H0YJE4, H0YJR8

UniProt curated annotations — full annotation on UniProt →

Function. NADPH-dependent oxidoreductase which catalyzes the reduction of a variety of compounds bearing carbonyl groups including steroids, retinoids and xenobiotics. Catalyzes the reduction/inactivation of 5alpha-dihydrotestosterone to 3alpha-androstanediol, with a possible role in the modulation of androgen receptor function. Involved in the reduction of all-trans-retinal to all-trans-retinol. Converts cortisone to 20beta-dihydrocortisone in vitro, although the physiological relevance of this activity is questionable. Reduces exogenous compounds such as quinones (1,2-naphtoquinone, 9,10-phenantrenequinone and benzoquinone) and other xenobiotics (alpha-diketones) in vitro, suggesting a role in the biotransformation of xenobiotics with carbonyl group. A dehydrogenase activity has not been detected so far. May play a role as tumor suppressor.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Found predominantly in the adrenal glands, liver, thyroid, prostate, small intestine, colon, stomach, kidney and brain. Lower levels observed in skeletal muscle, the lung and the spleen.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y394-1	1	yes
Q9Y394-2	2

RefSeq proteins (4): NP_001309209, NP_001309210, NP_001309211, NP_057113* (*=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
IPR053011	SDR_family_member_7	Family

Pfam: PF00106

Catalyzed reactions (Rhea), 2 shown:

• all-trans-retinol + NADP(+) = all-trans-retinal + NADPH + H(+) (RHEA:25033)
• 5alpha-androstane-3alpha,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + NADPH + H(+) (RHEA:42116)

UniProt features (11 total): binding site 6, signal peptide 1, chain 1, sequence variant 1, active site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y394-F1	94.21	0.86

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): 203 (proton acceptor)

Ligand- & substrate-binding residues (6): 60; 62; 190; 203; 207; 239

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 197 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, MODULE_151, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, LANDIS_ERBB2_BREAST_PRENEOPLASTIC_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_LIPID_METABOLIC_PROCESS, SCHLOSSER_SERUM_RESPONSE_DN, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP

GO Biological Process (1): retinol metabolic process (GO:0042572)

GO Molecular Function (5): carbonyl reductase (NADPH) activity (GO:0004090), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), all-trans-retinol dehydrogenase (NADP+) activity (GO:0052650), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
alcohol dehydrogenase (NADP+) activity	2
retinoid metabolic process	1
primary alcohol metabolic process	1
hormone metabolic process	1
olefinic compound metabolic process	1
oxidoreductase activity, acting on CH-OH group of donors	1
retinol metabolic process	1
binding	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3195 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DHRS7	TMEM126A	Q9H061	540
DHRS7	TMEM38A	Q9H6F2	515
DHRS7	HECTD3	Q5T447	461
DHRS7	DHRS1	Q96LJ7	437
DHRS7	KIAA2013	Q8IYS2	427
DHRS7	TMEM209	Q96SK2	383
DHRS7	PCNX4	Q63HM2	374
DHRS7	SEC61A1	P38378	369
DHRS7	AIDA	Q96BJ3	368
DHRS7	MIPOL1	Q8TD10	364
DHRS7	HAO2	Q9NYQ3	364
DHRS7	TMTC3	Q6ZXV5	363
DHRS7	CYBC1	Q9BQA9	348
DHRS7	SDR42E1	Q8WUS8	341
DHRS7	SLC25A29	Q8N8R3	331

IntAct

132 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ASPH	STXBP3	psi-mi:“MI:0914”(association)	0.640
STX12	SNAP23	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
DHRS7	TMEM120A	psi-mi:“MI:0915”(physical association)	0.560
TMEM120A	DHRS7	psi-mi:“MI:0915”(physical association)	0.560
SACM1L	DHRS7	psi-mi:“MI:0915”(physical association)	0.560
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
EVA1C	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
PLXDC2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
PTGER3	PIK3R2	psi-mi:“MI:0914”(association)	0.530
CHRNA9	CHEK1	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
CPNE5	RAD21	psi-mi:“MI:0914”(association)	0.530
TLR5	MAN1A2	psi-mi:“MI:0914”(association)	0.530
CHRND	TPST2	psi-mi:“MI:0914”(association)	0.530
TREML2	SNX2	psi-mi:“MI:0914”(association)	0.530
SRPRB	CTDNEP1	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
KCNA2	FADS1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480

BioGRID (219): DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DHRS7 (Proximity Label-MS)

ESM2 similar proteins: A0JPE9, A2AJL3, A2VD33, O46504, O75191, P12276, P12785, P13439, P17256, P19096, P31754, Q08D86, Q0IH28, Q0VFE7, Q3MIF4, Q3SYZ6, Q3TNA1, Q4V831, Q4V9P6, Q503J2, Q566S6, Q5M7T9, Q5R979, Q5RFE6, Q5U5V2, Q5XH07, Q5XIG6, Q5ZMJ4, Q64FG0, Q68FH4, Q6DCD1, Q6DH69, Q6GMR7, Q6GP95, Q6NUM9, Q6NUW9, Q6ZS86, Q71SP7, Q7TSQ8, Q80SY6

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 151 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
Signaling by SCF-KIT	5	13.8×	1e-03
Stimuli-sensing channels	5	7.5×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
membrane depolarization	5	20.8×	3e-03
monoatomic ion transmembrane transport	6	10.2×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

69 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

957 predictions. Top by Δscore:

Variant	Effect	Δscore
14:60150186:CC:C	acceptor_gain	1.0000
14:60150187:CC:C	acceptor_gain	1.0000
14:60153100:G:C	donor_gain	1.0000
14:60154062:TTCT:T	acceptor_gain	1.0000
14:60154064:CT:C	acceptor_gain	1.0000
14:60154066:C:CC	acceptor_gain	1.0000
14:60155994:GCTTA:G	donor_loss	1.0000
14:60155995:CTTA:C	donor_loss	1.0000
14:60155996:TTACC:T	donor_loss	1.0000
14:60155997:TACCT:T	donor_loss	1.0000
14:60155998:A:C	donor_loss	1.0000
14:60156149:CATT:C	acceptor_gain	1.0000
14:60156151:TT:T	acceptor_gain	1.0000
14:60156151:TTC:T	acceptor_loss	1.0000
14:60156152:TCTA:T	acceptor_loss	1.0000
14:60156153:C:CC	acceptor_gain	1.0000
14:60156153:CT:C	acceptor_loss	1.0000
14:60156164:A:AC	acceptor_gain	1.0000
14:60156164:A:C	acceptor_gain	1.0000
14:60156166:G:C	acceptor_gain	1.0000
14:60145011:ATCC:A	acceptor_loss	0.9900
14:60145012:TC:T	acceptor_gain	0.9900
14:60145013:CC:C	acceptor_gain	0.9900
14:60145015:T:C	acceptor_loss	0.9900
14:60149352:CCA:C	donor_gain	0.9900
14:60149374:AAT:A	donor_gain	0.9900
14:60149477:T:TA	donor_gain	0.9900
14:60149569:C:CC	acceptor_gain	0.9900
14:60150059:TTTTA:T	donor_loss	0.9900
14:60150060:TTTAC:T	donor_loss	0.9900

AlphaMissense

2195 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:60152954:G:C	S206R	0.994
14:60152954:G:T	S206R	0.994
14:60152956:T:G	S206R	0.994
14:60149472:A:G	W285R	0.990
14:60149472:A:T	W285R	0.990
14:60156126:A:G	W54R	0.988
14:60156126:A:T	W54R	0.988
14:60153002:G:C	S190R	0.986
14:60153002:G:T	S190R	0.986
14:60153004:T:G	S190R	0.986
14:60149510:A:G	L272P	0.984
14:60150117:C:T	G235E	0.984
14:60150118:C:G	G235R	0.980
14:60150118:C:T	G235R	0.980
14:60152951:C:A	K207N	0.980
14:60152951:C:G	K207N	0.980
14:60149520:A:G	C269R	0.978
14:60149497:G:C	S276R	0.974
14:60149497:G:T	S276R	0.974
14:60149499:T:G	S276R	0.974
14:60153003:C:A	S190I	0.973
14:60152965:A:G	Y203H	0.972
14:60152995:C:G	G193R	0.972
14:60153005:A:C	N189K	0.971
14:60153005:A:T	N189K	0.971
14:60156089:A:G	L66P	0.971
14:60149522:C:G	R268P	0.969
14:60152946:G:T	A209D	0.969
14:60153079:C:A	G165W	0.968
14:60150117:C:A	G235V	0.967

dbSNP variants (sampled 300 via entrez): RS1000054383 (14:60145203 C>A,T), RS1000163854 (14:60144150 GAAT>G), RS1000438300 (14:60151237 T>C), RS1000444571 (14:60152788 T>C), RS1000505381 (14:60145757 C>T), RS1001079555 (14:60159587 T>A), RS1001522348 (14:60160053 C>A,G,T), RS1001538436 (14:60166657 C>A,T), RS1001568151 (14:60171876 T>C), RS1001642312 (14:60166315 G>A), RS1001908605 (14:60161267 T>A), RS1002123716 (14:60147738 T>C), RS1002177581 (14:60147478 A>T), RS1002324588 (14:60153601 C>A), RS1002364735 (14:60167692 T>C)

Disease associations

OMIM: gene MIM:612833 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001310_6	Allergic rhinitis	2.000000e-06
GCST009462_78	Optic disc size	3.000000e-27

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	7
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
beauvericin	affects cotreatment, increases expression	1
quinone	increases reduction	1
9,10-phenanthrenequinone	increases reduction	1
triphenyl phosphate	affects expression	1
benzil	increases reduction	1
bisphenol A	increases expression	1
lead acetate	increases expression	1
sodium arsenate	decreases expression	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	increases reduction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
4-nitrobenzaldehyde	increases reduction	1
1,2-naphthoquinone	increases reduction	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
enniatins	affects cotreatment, increases expression	1
deguelin	increases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
nutlin 3	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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