DNAH3

Summary

DNAH3 (dynein axonemal heavy chain 3, HGNC:2949) is a protein-coding gene on chromosome 16p12.3, encoding Dynein axonemal heavy chain 3 (Q8TD57). Force generating protein of respiratory cilia.

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 55567 — RefSeq curated summary.

At a glance

• Gene–disease (curated): male infertility (Limited, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 789 total — 1 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_001347886

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2949
Approved symbol	DNAH3
Name	dynein axonemal heavy chain 3
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Aliases	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074
Ensembl gene	ENSG00000158486
Ensembl biotype	protein_coding
OMIM	603334
Entrez	55567

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 retained_intron, 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000261383, ENST00000396036, ENST00000572640, ENST00000572931, ENST00000575024, ENST00000575491, ENST00000685858, ENST00000698260

RefSeq mRNA: 3 — MANE Select: NM_001347886 NM_001347886, NM_001394581, NM_017539

CCDS: CCDS10594, CCDS92121

Canonical transcript exons

ENST00000698260 — 62 exons

Exon	Start	End
ENSE00000944876	21069415	21069594
ENSE00000944877	21067283	21067419
ENSE00001039315	21070710	21070826
ENSE00001039317	21075447	21075561
ENSE00001106762	21081636	21081727
ENSE00001106767	21097355	21097499
ENSE00001106784	21098616	21098769
ENSE00001106812	21086849	21087060
ENSE00001141567	20933111	20933507
ENSE00001239551	21117203	21117339
ENSE00001239783	21104471	21104594
ENSE00003458335	20997283	20997462
ENSE00003459403	20941401	20941543
ENSE00003474243	20944496	20944663
ENSE00003481639	21051670	21051868
ENSE00003481700	20963284	20965425
ENSE00003481885	21125175	21125370
ENSE00003483108	21145181	21145406
ENSE00003486520	21021971	21022100
ENSE00003486795	20948483	20948637
ENSE00003497135	20954813	20955057
ENSE00003499903	21111993	21112098
ENSE00003505479	20987693	20987849
ENSE00003521088	20979330	20979546
ENSE00003523835	21062482	21062683
ENSE00003524402	21058086	21058196
ENSE00003525461	21054420	21054534
ENSE00003538521	20975233	20975415
ENSE00003545401	20987942	20988065
ENSE00003552351	21060264	21060356
ENSE00003565223	20959179	20959404
ENSE00003565483	21039852	21039943
ENSE00003573823	21134259	21134454
ENSE00003577755	20969792	20969990
ENSE00003592887	20982721	20982886
ENSE00003593962	21111626	21111804
ENSE00003599809	20987305	20987448
ENSE00003602984	21049910	21050018
ENSE00003609073	21106490	21106674
ENSE00003615540	21140536	21140710
ENSE00003623179	21145984	21146088
ENSE00003624311	21121945	21122124
ENSE00003627842	20985049	20985715
ENSE00003630263	21000224	21000518
ENSE00003639288	21024596	21024701
ENSE00003639891	21019624	21019869
ENSE00003645470	21036714	21036848
ENSE00003648857	20936649	20936853
ENSE00003654115	21031045	21031286
ENSE00003654496	21037761	21037980
ENSE00003662162	21136324	21136513
ENSE00003662980	21049569	21049682
ENSE00003663787	21141300	21141372
ENSE00003664603	21127687	21127812
ENSE00003664720	20935348	20935485
ENSE00003670197	21003104	21003207
ENSE00003680453	20952433	20952549
ENSE00003681702	21027027	21027127
ENSE00003685967	21033974	21034085
ENSE00003689188	21042027	21042203
ENSE00003973140	21150751	21150846
ENSE00003973141	21150290	21150534

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 94.25.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1176 / max 41.0987, expressed in 38 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156714	0.1176	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	94.25	gold quality
epithelium of bronchus	UBERON:0002031	94.09	gold quality
bronchus	UBERON:0002185	93.19	gold quality
type B pancreatic cell	CL:0000169	92.87	gold quality
olfactory bulb	UBERON:0002264	92.61	gold quality
right uterine tube	UBERON:0001302	92.23	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.03	gold quality
hair follicle	UBERON:0002073	84.43	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.42	gold quality
nasal cavity epithelium	UBERON:0005384	83.69	gold quality
diaphragm	UBERON:0001103	82.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.89	gold quality
triceps brachii	UBERON:0001509	80.85	gold quality
gluteal muscle	UBERON:0002000	79.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.81	gold quality
epithelium of nasopharynx	UBERON:0001951	79.13	gold quality
frontal pole	UBERON:0002795	78.37	silver quality
middle frontal gyrus	UBERON:0002702	77.34	silver quality
nasal cavity mucosa	UBERON:0001826	76.33	gold quality
buccal mucosa cell	CL:0002336	76.22	silver quality
vastus lateralis	UBERON:0001379	75.63	gold quality
endometrium epithelium	UBERON:0004811	75.43	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	74.41	gold quality
thymus	UBERON:0002370	73.55	gold quality
oviduct epithelium	UBERON:0004804	72.61	gold quality
upper arm skin	UBERON:0004263	72.10	gold quality
fallopian tube	UBERON:0003889	71.98	gold quality
trachea	UBERON:0003126	71.88	silver quality
Brodmann (1909) area 10	UBERON:0013541	71.81	gold quality
epithelial cell of pancreas	CL:0000083	71.72	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-76312	no	3.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnah3	ENSDARG00000068468
mus_musculus	Dnah3	ENSMUSG00000052273
rattus_norvegicus	Dnah3	ENSRNOG00000050426
drosophila_melanogaster	Dnah3	FBGN0035581

Paralogs (15): DNAH9 (ENSG00000007174), DNAH5 (ENSG00000039139), DNAH11 (ENSG00000105877), DNAH1 (ENSG00000114841), DNAH6 (ENSG00000115423), DNAH7 (ENSG00000118997), DNAH8 (ENSG00000124721), DNAH12 (ENSG00000174844), DNHD1 (ENSG00000179532), DNAH2 (ENSG00000183914), DNAH14 (ENSG00000185842), DYNC2H1 (ENSG00000187240), DNAH17 (ENSG00000187775), DYNC1H1 (ENSG00000197102), DNAH10 (ENSG00000197653)

Protein

Protein identifiers

Dynein axonemal heavy chain 3 — Q8TD57 (reviewed: Q8TD57)

Alternative names: Axonemal beta dynein heavy chain 3, Ciliary dynein heavy chain 3, Dnahc3-b

All UniProt accessions (3): A0A8I5KSE2, A0A8V8TLI9, Q8TD57

UniProt curated annotations — full annotation on UniProt →

Function. Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly. Essential for the assembly and structural organization of the sperm flagellum’s axoneme, including its inner dynein arms and accessory components, which are critical for maintaining flagellar integrity and motility.

Subunit / interactions. Consists of at least two heavy chains and a number of intermediate and light chains.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Cell projection. Cilium. Flagellum.

Tissue specificity. Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in lung.

Domain organisation. Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.

Similarity. Belongs to the dynein heavy chain family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TD57-1	1	yes
Q8TD57-2	2
Q8TD57-3	3

RefSeq proteins (2): NP_001334815, NP_060009 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003593	AAA+_ATPase	Domain
IPR004273	Dhc_D6_P-loop	Domain
IPR013602	Dhc_linker	Domain
IPR024317	Dhc_D4	Domain
IPR024743	Dynein_HC_stalk	Domain
IPR026983	DHC	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035699	Dhc_AAA	Domain
IPR035706	AAA_9	Domain
IPR041228	Dhc_C	Domain
IPR041466	Dhc_AAA5_ext	Domain
IPR041589	DNAH3_AAA_lid_1	Domain
IPR041658	AAA_lid_11	Domain
IPR042219	AAA_lid_11_sf	Homologous_superfamily
IPR042222	Dynein_2_N	Homologous_superfamily
IPR042228	Dynein_linker_3	Homologous_superfamily
IPR043157	Dynein_AAA1S	Homologous_superfamily
IPR043160	Dynein_C_barrel	Homologous_superfamily

Pfam: PF03028, PF08393, PF12774, PF12775, PF12777, PF12780, PF12781, PF17852, PF17857, PF18198, PF18199

UniProt features (56 total): sequence variant 28, region of interest 10, splice variant 7, binding site 4, sequence conflict 4, chain 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

No AlphaFold model available for Q8TD57 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 1429–1436; 1710–1717; 2074–2081; 2434–2441

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 95 (showing top): YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_MALE_GAMETE_GENERATION, GOBP_INNER_DYNEIN_ARM_ASSEMBLY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, KEGG_HUNTINGTONS_DISEASE, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, MODULE_88, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (5): inner dynein arm assembly (GO:0036159), cilium-dependent cell motility (GO:0060285), cilium movement involved in cell motility (GO:0060294), cilium movement (GO:0003341), microtubule-based movement (GO:0007018)

GO Molecular Function (7): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), minus-end-directed microtubule motor activity (GO:0008569), dynein intermediate chain binding (GO:0045505), dynein light intermediate chain binding (GO:0051959), nucleotide binding (GO:0000166), ATP hydrolysis activity (GO:0016887)

GO Cellular Component (9): axonemal dynein complex (GO:0005858), microtubule (GO:0005874), inner dynein arm (GO:0036156), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), dynein complex (GO:0030286), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cilium movement	2
ATP-dependent activity	2
protein binding	2
cellular anatomical structure	2
axonemal dynein complex assembly	1
cilium or flagellum-dependent cell motility	1
cell motility	1
cilium-dependent cell motility	1
microtubule-based movement	1
microtubule-based process	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
microtubule motor activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
ribonucleoside triphosphate phosphatase activity	1
axoneme	1
dynein complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
axonemal dynein complex	1
radial spoke	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule associated complex	1
catalytic complex	1

Protein interactions and networks

STRING

1241 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAH3	DLGAP4	Q9Y2H0	505
DNAH3	DNAL4	O96015	491
DNAH3	GAS2L2	Q8NHY3	460
DNAH3	DNAI1	Q9UI46	456
DNAH3	SOD1	P00441	443
DNAH3	DNALI1	O14645	437
DNAH3	CCDC40	Q4G0X9	416
DNAH3	ODAD2	Q5T2S8	410
DNAH3	CDKN2A	P42771	407
DNAH3	DNAI2	Q9GZS0	391
DNAH3	ZMYND10	O75800	389
DNAH3	CFAP99	D6REC4	383
DNAH3	C21orf140	B9A014	369
DNAH3	DNAAF1	Q8NEP3	367
DNAH3	M9MMK7	M9MMK7	355

IntAct

8 interactions, top by confidence:

A	B	Type	Score
DNAH3	DHRS2	psi-mi:“MI:0915”(physical association)	0.400
DNAH3	HNRNPD	psi-mi:“MI:0915”(physical association)	0.400
DNAH3	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
DNAH3	PLEC	psi-mi:“MI:0915”(physical association)	0.400
ARRB1		psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350

BioGRID (19): DNAH3 (Affinity Capture-MS), DNAH3 (Proximity Label-MS), DNAH3 (Proximity Label-MS), DNAH3 (Proximity Label-MS), DNAH3 (Proximity Label-MS), DNAH3 (Affinity Capture-MS), DNAH3 (Affinity Capture-MS), DNAH3 (Protein-peptide), RPL26 (Cross-Linking-MS (XL-MS)), DNAH3 (Cross-Linking-MS (XL-MS)), RPL26 (Cross-Linking-MS (XL-MS)), DNAH3 (Cross-Linking-MS (XL-MS)), DNAH3 (Cross-Linking-MS (XL-MS)), DNAH3 (Affinity Capture-MS), DNAH3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GVH7, A2RRP1, D3YVL2, E9Q8T7, O55007, O88480, P0C6F1, P37276, P38650, Q0KK59, Q14204, Q3UHQ6, Q3UMB5, Q3V0Q1, Q4R7B1, Q5R414, Q5SQX6, Q5T0N1, Q5ZLS8, Q63164, Q63170, Q642P2, Q69Z23, Q6GYP7, Q6GYQ0, Q6ZR08, Q7L576, Q7TMB8, Q8BW94, Q8IVF4, Q8K2A7, Q8TD57, Q8TDY2, Q8TEV9, Q8WVF1, Q8WXX0, Q91XQ0, Q923J6, Q95LN2, Q96F07

Diamond homologs: E9Q8T7, F1SC07, M0R8U1, P0C6F1, P23098, P39057, Q39565, Q39575, Q39610, Q3V0Q1, Q63164, Q63170, Q69Z23, Q6ZR08, Q8BW94, Q8IVF4, Q8TD57, Q8TE73, Q8VHE6, Q8WXX0, Q91XQ0, Q923J6, Q96DT5, Q96JB1, Q9C0G6, Q9MBF8, Q9NYC9, Q9P225, Q9P2D7, Q9SMH3, Q9UFH2, P84753, O75369, P80197, P87061, Q2R2W1, Q5Z8K3, Q67UX0, Q7M3S9, Q80X90

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	666
Likely benign	60
Benign	18

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2627626	NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)	Pathogenic
2627625	NM_001347886.2(DNAH3):c.10301G>A (p.Arg3434Gln)	Likely pathogenic
2627627	NM_001347886.2(DNAH3):c.10122G>A (p.Trp3374Ter)	Likely pathogenic
2627628	NM_001347886.2(DNAH3):c.6835T>C (p.Phe2279Leu)	Likely pathogenic

SpliceAI

10024 predictions. Top by Δscore:

Variant	Effect	Δscore
16:20935495:C:CT	acceptor_gain	1.0000
16:20936646:TACCT:T	donor_loss	1.0000
16:20936647:ACC:A	donor_loss	1.0000
16:20936648:C:A	donor_loss	1.0000
16:20936770:T:TA	donor_gain	1.0000
16:20936771:C:A	donor_gain	1.0000
16:20936850:CAGC:C	acceptor_gain	1.0000
16:20936851:AGCCT:A	acceptor_loss	1.0000
16:20936852:GCCTG:G	acceptor_loss	1.0000
16:20936853:CCT:C	acceptor_loss	1.0000
16:20936854:C:CC	acceptor_gain	1.0000
16:20936855:T:A	acceptor_loss	1.0000
16:20941545:T:C	acceptor_gain	1.0000
16:20944514:T:TA	donor_gain	1.0000
16:20948477:CCTTA:C	donor_loss	1.0000
16:20948478:CTTAC:C	donor_loss	1.0000
16:20948479:TTA:T	donor_loss	1.0000
16:20948480:TA:T	donor_loss	1.0000
16:20948481:A:C	donor_loss	1.0000
16:20948635:CCC:C	acceptor_gain	1.0000
16:20948636:CCC:C	acceptor_gain	1.0000
16:20952428:AATAC:A	donor_loss	1.0000
16:20952465:T:TA	donor_gain	1.0000
16:20952554:G:C	acceptor_gain	1.0000
16:20954807:GCTTA:G	donor_loss	1.0000
16:20954808:CTTA:C	donor_loss	1.0000
16:20954809:TTA:T	donor_loss	1.0000
16:20954810:TAC:T	donor_loss	1.0000
16:20954811:ACCT:A	donor_loss	1.0000
16:20954812:C:CA	donor_loss	1.0000

AlphaMissense

27121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:20982797:A:G	W2595R	1.000
16:20982797:A:T	W2595R	1.000
16:21027027:C:A	R1847M	1.000
16:21027027:C:G	R1847T	1.000
16:21027029:G:C	S1846R	1.000
16:21027029:G:T	S1846R	1.000
16:21027031:T:G	S1846R	1.000
16:21027039:G:T	A1843D	1.000
16:21031059:C:G	D1809H	1.000
16:21031086:A:G	W1800R	1.000
16:21031086:A:T	W1800R	1.000
16:20933244:G:C	N4087K	0.999
16:20933244:G:T	N4087K	0.999
16:20982795:C:A	W2595C	0.999
16:20982795:C:G	W2595C	0.999
16:20985515:G:C	F2409L	0.999
16:20985515:G:T	F2409L	0.999
16:20985517:A:G	F2409L	0.999
16:20987424:A:G	W2303R	0.999
16:20987424:A:T	W2303R	0.999
16:21024696:C:T	G1849E	0.999
16:21024701:C:A	R1847S	0.999
16:21024701:C:G	R1847S	0.999
16:21027028:T:C	R1847G	0.999
16:21027048:G:T	A1840D	0.999
16:21027126:A:G	L1814P	0.999
16:21031057:A:C	D1809E	0.999
16:21031057:A:T	D1809E	0.999
16:21031058:T:A	D1809V	0.999
16:21031061:A:G	L1808P	0.999

dbSNP variants (sampled 300 via entrez): RS1000009793 (16:21090412 A>G), RS1000012342 (16:21036625 C>G,T), RS1000034165 (16:20937840 C>G,T), RS1000036018 (16:21079810 G>A), RS1000043050 (16:21134934 C>T), RS1000044924 (16:21037069 G>A), RS1000053606 (16:21008217 C>G), RS1000078184 (16:21051240 G>A,C,T), RS1000085668 (16:20999544 C>G), RS1000092426 (16:20962435 A>G), RS1000139630 (16:20999938 C>T), RS1000143767 (16:21106246 G>C), RS1000154393 (16:21085494 C>CTCCA), RS1000160466 (16:20933949 T>G), RS1000169824 (16:21152709 C>G,T)

Disease associations

OMIM: gene MIM:603334 | disease phenotypes: MIM:617576

GenCC curated gene-disease

Disease	Classification	Inheritance
male infertility	Limited	Autosomal recessive

Mondo (4): prostate cancer (MONDO:0008315), spermatogenic failure 18 (MONDO:0054615), intellectual disability (MONDO:0001071), male infertility (MONDO:0005372)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001534_1	Immune reponse to smallpox (secreted IL-10)	1.000000e-07
GCST005557_2	Serum uric acid levels	4.000000e-06
GCST006138_42	Resting-state electroencephalogram vigilance	5.000000e-08
GCST007094_137	Diastolic blood pressure	2.000000e-06
GCST007095_8	Systolic blood pressure	6.000000e-06
GCST007099_61	Systolic blood pressure	5.000000e-09
GCST90002381_80	Eosinophil count	6.000000e-12
GCST90002400_171	Plateletcrit	3.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0004761	uric acid measurement
EFO:0004357	electroencephalogram measurement
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0004842	eosinophil count
EFO:0007985	platelet crit

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D007248	Infertility, Male	C12.100.500.430; C12.100.750.700; C12.200.294.430
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
bisphenol F	affects cotreatment, decreases methylation	1
bisphenol A	decreases methylation	1
terbufos	decreases methylation	1
2,3-pentanedione	decreases expression	1
sodium arsenite	increases expression	1
3,4,3’,4’-tetrachlorobiphenyl	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
licochalcone B	increases expression	1
(+)-JQ1 compound	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Amphotericin B	increases expression	1
Benzo(a)pyrene	affects methylation	1
Diacetyl	decreases expression	1
Fonofos	decreases methylation	1
Haloperidol	increases expression	1
Parathion	decreases methylation	1
Urethane	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	affects methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02202382	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Male Infertility
NCT02204826	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study
NCT03802864	PHASE4	COMPLETED	Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine
NCT06100432	PHASE4	ACTIVE_NOT_RECRUITING	Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males
NCT07523022	PHASE4	ENROLLING_BY_INVITATION	Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer