DDX50

Summary

DDX50 (DExD-box helicase 50, HGNC:17906) is a protein-coding gene on chromosome 10q22.1, encoding ATP-dependent RNA helicase DDX50 (Q9BQ39). ATP-dependent RNA helicase that may play a role in various aspects of RNA metabolism including pre-mRNA splicing or ribosomal RNA production.

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined.

Source: NCBI Gene 79009 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 110 total — 1 pathogenic
• MANE Select transcript: NM_024045

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17906
Approved symbol	DDX50
Name	DExD-box helicase 50
Location	10q22.1
Locus type	gene with protein product
Status	Approved
Aliases	GU2, MGC3199, GUB, RH-II/GuB
Ensembl gene	ENSG00000107625
Ensembl biotype	protein_coding
OMIM	610373
Entrez	79009

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000373585, ENST00000460470, ENST00000466265, ENST00000471475, ENST00000483593, ENST00000869035, ENST00000869036, ENST00000869037, ENST00000869038, ENST00000869039, ENST00000869040, ENST00000923387, ENST00000923388, ENST00000923389, ENST00000955368, ENST00000955369, ENST00000955370

RefSeq mRNA: 1 — MANE Select: NM_024045 NM_024045

CCDS: CCDS7283

Canonical transcript exons

ENST00000373585 — 15 exons

Exon	Start	End
ENSE00000933681	68913391	68913576
ENSE00001460966	68946352	68946847
ENSE00001461052	68901315	68901471
ENSE00003273878	68934199	68934360
ENSE00003297378	68934799	68934918
ENSE00003493163	68936006	68936079
ENSE00003507759	68943213	68943257
ENSE00003520840	68936936	68937095
ENSE00003521459	68906711	68907007
ENSE00003555957	68919832	68919981
ENSE00003572610	68910307	68910382
ENSE00003608065	68941060	68941194
ENSE00003613600	68911068	68911246
ENSE00003665003	68914059	68914204
ENSE00003682108	68913162	68913279

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 96.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.7819 / max 559.5577, expressed in 1820 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105272	42.7819	1820

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	96.78	gold quality
calcaneal tendon	UBERON:0003701	96.41	gold quality
tendon of biceps brachii	UBERON:0008188	95.98	gold quality
tendon	UBERON:0000043	95.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.65	gold quality
secondary oocyte	CL:0000655	94.36	gold quality
ventricular zone	UBERON:0003053	93.88	gold quality
parietal pleura	UBERON:0002400	93.73	gold quality
pericardium	UBERON:0002407	93.62	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.43	gold quality
tibia	UBERON:0000979	93.16	gold quality
mucosa of urinary bladder	UBERON:0001259	93.13	gold quality
embryo	UBERON:0000922	92.93	gold quality
germinal epithelium of ovary	UBERON:0001304	92.78	gold quality
decidua	UBERON:0002450	92.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.64	gold quality
esophagus squamous epithelium	UBERON:0006920	92.60	gold quality
pleura	UBERON:0000977	92.54	gold quality
islet of Langerhans	UBERON:0000006	92.50	gold quality
tibial artery	UBERON:0007610	92.39	gold quality
popliteal artery	UBERON:0002250	92.38	gold quality
smooth muscle tissue	UBERON:0001135	92.33	gold quality
skin of hip	UBERON:0001554	92.20	gold quality
visceral pleura	UBERON:0002401	92.18	gold quality
endometrium	UBERON:0001295	92.11	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.91	gold quality
mammary duct	UBERON:0001765	91.89	gold quality
saphenous vein	UBERON:0007318	91.68	gold quality
superficial temporal artery	UBERON:0001614	91.65	gold quality
ganglionic eminence	UBERON:0004023	91.64	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

23 targeting DDX50, 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-12118	100.00	65.88	1270
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-4777-3P	99.15	68.92	626
HSA-MIR-1261	98.62	68.10	896
HSA-MIR-376B-5P	98.46	66.40	606
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-4423-3P	97.98	69.66	912
HSA-MIR-1243	97.07	65.44	719
HSA-MIR-582-3P	96.69	67.38	1019
HSA-MIR-376A-2-5P	96.43	68.06	715
HSA-MIR-3165	96.18	66.22	473
HSA-MIR-192-5P	94.82	66.14	417
HSA-MIR-215-5P	94.82	66.07	422

Literature-anchored findings (GeneRIF, showing 3)

• Solution structure of the GUCT domain from human RNA helicase II/Gu beta reveals the RRM fold, but implausible RNA interactions. (PMID:18615715)
• Results provide evidence that DDX50 negatively regulates DENV-2 replication during the early stages of infection by inducing IFN-beta production. (PMID:28181036)
• DDX50 Is a Viral Restriction Factor That Enhances IRF3 Activation. (PMID:35215908)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ddx50	ENSMUSG00000020076
rattus_norvegicus	Ddx50	ENSRNOG00000000396

Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)

Protein

Protein identifiers

ATP-dependent RNA helicase DDX50 — Q9BQ39 (reviewed: Q9BQ39)

Alternative names: DEAD box protein 50, Gu-beta, Nucleolar protein Gu2

All UniProt accessions (3): Q9BQ39, S4R3G6, S4R3V4

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent RNA helicase that may play a role in various aspects of RNA metabolism including pre-mRNA splicing or ribosomal RNA production. Also acts as a viral restriction factor and promotes the activation of the NF-kappa-B and IRF3 signaling pathways following its stimulation with viral RNA or infection with RNA and DNA viruses. For instance, decreases vaccinia virus, herpes simplex virus, Zika virus or dengue virus replication during the early stage of infection. Mechanistically, acts via the adapter TICAM1 and independently of the DDX1-DDX21-DHX36 helicase complex to induce the production of interferon-beta.

Subunit / interactions. Interacts with C1QBP. Interacts with the ubiquitin ligase CTLH complex through GID4. Interacts with TICAM1.

Subcellular location. Nucleus. Nucleolus. Cytoplasm.

Tissue specificity. Highest expression in skeletal muscle, liver, heart, placenta, and kidney.

Similarity. Belongs to the DEAD box helicase family. DDX21/DDX50 subfamily.

RefSeq proteins (1): NP_076950* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR012562	GUCT	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR050079	DEAD_box_RNA_helicase	Family
IPR059027	DD_DDX21-DDX50	Domain

Pfam: PF00270, PF00271, PF08152, PF26142

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (33 total): compositionally biased region 8, modified residue 7, strand 5, helix 3, domain 2, region of interest 2, short sequence motif 2, chain 1, binding site 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2E29	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQ39-F1	72.89	0.29

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 (1): 181–188

Post-translational modifications (8): 41, 82, 86, 121, 122, 247, 518, 125

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 133 (showing top): YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, MAZ_Q6, GNF2_FBL, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, MAF_Q6, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GNF2_ST13, NRF2_01, GTGTGAG_MIR342, GOCC_NUCLEOLUS, E2F1_Q3_01, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, GEORGES_TARGETS_OF_MIR192_AND_MIR215

GO Biological Process (0):

GO Molecular Function (9): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), mRNA binding (GO:0003729), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), hydrolase activity (GO:0016787)

GO Cellular Component (5): nucleolus (GO:0005730), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	2
cellular anatomical structure	2
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
RNA binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
catalytic activity	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

4065 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX50	SRSF2	Q01130	650
DDX50	ARMC8	Q8IUR7	646
DDX50	AMMECR1L	Q6DCA0	552
DDX50	DHX29	Q7Z478	543
DDX50	DHX33	Q9H6R0	541
DDX50	DHX8	Q14562	525
DDX50	DHX36	Q9H2U1	524
DDX50	CCAR1	Q8IX12	503
DDX50	STOX1	Q6ZVD7	501
DDX50	DHX9	Q08211	493
DDX50	IFIH1	Q9BYX4	484
DDX50	ZKSCAN5	Q9Y2L8	473
DDX50	TMUB2	Q71RG4	456
DDX50	PRPF38A	Q8NAV1	451
DDX50	ZC3H14	Q6PJT7	450

IntAct

162 interactions, top by confidence:

A	B	Type	Score
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
MED26	MED19	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RRP8	NVL	psi-mi:“MI:0914”(association)	0.530
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
TNFRSF13B	TNFRSF10B	psi-mi:“MI:0914”(association)	0.530
RRP8	MAGEB2	psi-mi:“MI:0914”(association)	0.530
GNLY	YPEL5	psi-mi:“MI:0914”(association)	0.530
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
PCNA	DDX50	psi-mi:“MI:0915”(physical association)	0.370
DDX50	KRAS	psi-mi:“MI:0915”(physical association)	0.370
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
NPM1	RPSA	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
RRP1B	ZNF785	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (343): DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS), DDX21 (Co-fractionation), DDX50 (Co-fractionation), DDX50 (Affinity Capture-RNA), DDX50 (Synthetic Growth Defect), DDX50 (Biochemical Activity), DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS), DDX50 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D6GDY8, A0A1D6LAB7, A1CHL3, A1CX72, A6RJA2, A7EGG4, O22907, P0CQ88, P0CQ89, P16381, P19109, P46942, Q0CLX0, Q0D8N0, Q0DM51, Q0ILZ4, Q0INC5, Q1DMX8, Q2HEB0, Q39189, Q3B8Q1, Q3MSQ8, Q41382, Q4I7F9, Q4WPE9, Q5BCU6, Q5N7W4, Q5VQL1, Q5W5U4, Q61496, Q62095, Q64060, Q650T9, Q6CCZ1, Q6GVM6, Q6H601, Q6H6R9, Q750Q4, Q7ZY47, Q8H136

Diamond homologs: A0A1D6GDY8, A0A1D6LAB7, A0R8U6, A1C5V3, A1DG51, A1DGZ7, A5DL80, A5DS77, A6ZRX0, A6ZUA1, B9XXL6, O25029, P0A4D7, P0A4D8, P0A9P6, P0A9P7, P0A9P8, P20447, P24783, P25888, P33906, P42305, P44586, P46942, P57453, P96614, P9WH04, P9WH05, Q0CL13, Q0D8N0, Q0DM51, Q0ILZ4, Q10202, Q1DP69, Q2FF45, Q2FWH5, Q2U070, Q2YUH3, Q39189, Q3B8Q1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 185 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
Transport of Mature Transcript to Cytoplasm	5	15.5×	5e-04
Eukaryotic Translation Initiation	5	12.6×	1e-03
Cap-dependent Translation Initiation	5	12.6×	1e-03
SARS-CoV-1 modulates host translation machinery	5	12.6×	1e-03
Nonsense-Mediated Decay (NMD)	6	11.4×	4e-04
Eukaryotic Translation Elongation	5	11.3×	1e-03
mRNA 3’-end processing	7	11.2×	1e-04
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	5	11.1×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of mRNA splicing, via spliceosome	5	23.1×	3e-04
stem cell population maintenance	6	15.2×	4e-04
ribosomal small subunit biogenesis	9	12.3×	3e-05
cytoplasmic translation	10	11.2×	2e-05
mRNA stabilization	5	11.0×	8e-03
positive regulation of miRNA transcription	6	10.5×	2e-03
regulation of alternative mRNA splicing, via spliceosome	7	10.3×	6e-04
rRNA processing	10	8.5×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	85
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1444876	NC_000010.10:g.(?67680088)(71332799_?)del	Pathogenic

SpliceAI

2373 predictions. Top by Δscore:

Variant	Effect	Δscore
10:68901472:G:GA	donor_loss	1.0000
10:68906698:T:A	acceptor_gain	1.0000
10:68906702:T:A	acceptor_gain	1.0000
10:68906707:A:AG	acceptor_gain	1.0000
10:68906708:C:G	acceptor_gain	1.0000
10:68906709:A:AG	acceptor_gain	1.0000
10:68906709:A:AT	acceptor_loss	1.0000
10:68906709:AGAGT:A	acceptor_gain	1.0000
10:68906710:G:GA	acceptor_gain	1.0000
10:68906710:GA:G	acceptor_gain	1.0000
10:68906710:GAGT:G	acceptor_gain	1.0000
10:68906710:GAGTG:G	acceptor_gain	1.0000
10:68906991:A:AG	donor_gain	1.0000
10:68907004:GGAG:G	donor_gain	1.0000
10:68907005:G:GT	donor_gain	1.0000
10:68907005:GAGGT:G	donor_loss	1.0000
10:68907008:GT:G	donor_loss	1.0000
10:68907009:T:G	donor_loss	1.0000
10:68907978:GAGCT:G	donor_gain	1.0000
10:68907987:GAA:G	donor_gain	1.0000
10:68907989:A:AG	donor_gain	1.0000
10:68907989:A:G	donor_gain	1.0000
10:68910303:ACAG:A	acceptor_loss	1.0000
10:68910304:CA:C	acceptor_loss	1.0000
10:68910305:A:AG	acceptor_gain	1.0000
10:68910306:G:GA	acceptor_gain	1.0000
10:68910306:GA:G	acceptor_gain	1.0000
10:68910306:GAC:G	acceptor_gain	1.0000
10:68910306:GACC:G	acceptor_gain	1.0000
10:68910380:AAGG:A	donor_loss	1.0000

AlphaMissense

4800 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:68911157:G:A	G184R	1.000
10:68911157:G:C	G184R	1.000
10:68911158:G:A	G184E	1.000
10:68911163:G:A	G186R	1.000
10:68911163:G:C	G186R	1.000
10:68911164:G:A	G186E	1.000
10:68911164:G:T	G186V	1.000
10:68913166:T:C	L215P	1.000
10:68913169:T:A	V216D	1.000
10:68913178:C:A	P219Q	1.000
10:68913184:G:C	R221T	1.000
10:68913184:G:T	R221M	1.000
10:68913185:G:C	R221S	1.000
10:68913185:G:T	R221S	1.000
10:68913186:G:A	E222K	1.000
10:68913190:T:A	L223Q	1.000
10:68913190:T:C	L223P	1.000
10:68913192:G:C	A224P	1.000
10:68913200:A:C	Q226H	1.000
10:68913200:A:T	Q226H	1.000
10:68913255:G:C	G245R	1.000
10:68913255:G:T	G245C	1.000
10:68913256:G:A	G245D	1.000
10:68913256:G:T	G245V	1.000
10:68913259:G:A	G246E	1.000
10:68913424:T:A	V264D	1.000
10:68913426:G:A	G265R	1.000
10:68913426:G:C	G265R	1.000
10:68913427:G:A	G265E	1.000
10:68913427:G:T	G265V	1.000

dbSNP variants (sampled 300 via entrez): RS1000116265 (10:68905386 C>A,T), RS1000169298 (10:68912131 A>G), RS1000204123 (10:68941893 G>C), RS1000214338 (10:68918223 C>A), RS1000307830 (10:68917997 T>C), RS1000499412 (10:68937991 C>A), RS1000555573 (10:68930359 C>T), RS1000562599 (10:68912335 C>CT), RS1000656028 (10:68917050 G>A), RS1000712071 (10:68924084 A>C,G), RS1000779162 (10:68924711 C>T), RS1000848496 (10:68924238 C>G,T), RS1000878424 (10:68929394 T>A,C), RS1000956571 (10:68917272 C>T), RS1001020817 (10:68937187 GA>G,GAA)

Disease associations

OMIM: gene MIM:610373 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
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

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

Chemical	Actions (top 5)	PubMed papers
Hydrogen Peroxide	increases expression, affects expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
deoxynivalenol	increases expression	1
trichostatin A	increases expression	1
tetrahydropalmatine	decreases expression	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
ochratoxin A	decreases acetylation, decreases expression	1
coumarin	increases phosphorylation	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Decitabine	affects expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects expression	1
Demecolcine	increases expression	1
Doxorubicin	increases expression	1
Formaldehyde	increases expression	1
Gallic Acid	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer