PDZRN3

Summary

PDZRN3 (PDZ domain containing ring finger 3, HGNC:17704) is a protein-coding gene on chromosome 3p13, encoding E3 ubiquitin-protein ligase PDZRN3 (Q9UPQ7). E3 ubiquitin-protein ligase.

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 23024 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 220 total — 3 likely-pathogenic
• MANE Select transcript: NM_015009

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17704
Approved symbol	PDZRN3
Name	PDZ domain containing ring finger 3
Location	3p13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1095, SEMACAP3, LNX3, SEMCAP3
Ensembl gene	ENSG00000121440
Ensembl biotype	protein_coding
OMIM	609729
Entrez	23024

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000263666, ENST00000308537, ENST00000462146, ENST00000466348, ENST00000466780, ENST00000477434, ENST00000478209, ENST00000479530, ENST00000484487, ENST00000492909, ENST00000494559, ENST00000498048

RefSeq mRNA: 5 — MANE Select: NM_015009 NM_001303139, NM_001303140, NM_001303141, NM_001303142, NM_015009

CCDS: CCDS33789, CCDS77770, CCDS77771

Canonical transcript exons

ENST00000263666 — 10 exons

Exon	Start	End
ENSE00001204268	73602354	73602461
ENSE00001204273	73608598	73608684
ENSE00001414010	73382431	73384930
ENSE00001890354	73624103	73624941
ENSE00003494546	73385669	73385785
ENSE00003592889	73391018	73391116
ENSE00003640000	73404148	73404395
ENSE00003660715	73387968	73388069
ENSE00003660903	73389816	73389878
ENSE00003685012	73400922	73401009

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 98.92.

FANTOM5 (CAGE): breadth broad, TPM avg 3.9973 / max 143.5361, expressed in 899 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43173	2.8034	862
43167	0.4250	58
43172	0.2904	156
43168	0.2110	40
43162	0.1773	61
43169	0.0902	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood vessel layer	UBERON:0004797	98.92	gold quality
hair follicle	UBERON:0002073	98.58	gold quality
mucosa of stomach	UBERON:0001199	97.74	gold quality
urethra	UBERON:0000057	97.45	gold quality
vastus lateralis	UBERON:0001379	96.72	gold quality
seminal vesicle	UBERON:0000998	96.63	gold quality
cartilage tissue	UBERON:0002418	96.57	gold quality
saphenous vein	UBERON:0007318	96.56	gold quality
heart right ventricle	UBERON:0002080	96.44	gold quality
left ventricle myocardium	UBERON:0006566	96.44	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.38	gold quality
tibia	UBERON:0000979	96.37	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.27	gold quality
parotid gland	UBERON:0001831	96.22	gold quality
right ovary	UBERON:0002118	96.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.03	gold quality
lower esophagus	UBERON:0013473	96.01	gold quality
body of uterus	UBERON:0009853	96.00	gold quality
choroid plexus epithelium	UBERON:0003911	95.96	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.93	gold quality
popliteal artery	UBERON:0002250	95.89	gold quality
tibial artery	UBERON:0007610	95.87	gold quality
cauda epididymis	UBERON:0004360	95.78	gold quality
biceps brachii	UBERON:0001507	95.57	gold quality
myocardium	UBERON:0002349	95.57	gold quality
myometrium	UBERON:0001296	95.44	gold quality
mammary duct	UBERON:0001765	95.43	gold quality
left ovary	UBERON:0002119	95.36	gold quality
quadriceps femoris	UBERON:0001377	95.35	gold quality
aorta	UBERON:0000947	95.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	58.51
E-ANND-3	yes	9.13
E-MTAB-5061	yes	5.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting PDZRN3, 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-LET-7F-1-3P	100.00	74.02	3928
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-518A-5P	99.70	69.01	2209

Literature-anchored findings (GeneRIF, showing 5)

• These results indicate that PDZRN3 plays an important role in negative feedback control of BMP-2-induced osteoblast differentiation in C2C12 cells through inhibition of Wnt3a-beta-catenin signaling. (PMID:20668165)
• a novel partner of Kidins220/ARMS (PMID:22609016)
• Authors show that HPV-16 and HPV-18 E6 can target PDZRN3 in a PDZ- and proteasome-dependent manner and provide a connection between the papillomavirus life cycle and differentiation-related STAT signaling. (PMID:25355882)
• PDZRN3 may regulate SMCT1 function by interfering with the interaction between SMCT1 and PDZK1. (PMID:31098988)
• Granulysin-mediated reduction of PDZRN3 induces Cx43 gap junctions activity exacerbating skin damage in trichloroethylene hypersensitivity syndrome. (PMID:38471344)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdzrn3a	ENSDARG00000073757
danio_rerio	pdzrn3b	ENSDARG00000073869
mus_musculus	Pdzrn3	ENSMUSG00000035357
rattus_norvegicus	Pdzrn3	ENSRNOG00000057556
drosophila_melanogaster	Slip1	FBGN0024728
caenorhabditis_elegans		WBGENE00016846

Paralogs (2): PDZD4 (ENSG00000067840), PDZRN4 (ENSG00000165966)

Protein

Protein identifiers

E3 ubiquitin-protein ligase PDZRN3 — Q9UPQ7 (reviewed: Q9UPQ7)

Alternative names: Ligand of Numb protein X 3, PDZ domain-containing RING finger protein 3, RING-type E3 ubiquitin transferase PDZRN3, Semaphorin cytoplasmic domain-associated protein 3

All UniProt accessions (5): B7ZAG0, C9JWE6, E7ENB6, Q9UPQ7, H7C566

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation.

Subunit / interactions. Interacts with NLGN1 and EFNB2. Interacts with UBE2D2 and with MUSK via the first PDZ domain.

Subcellular location. Synapse. Cytoplasm.

Tissue specificity. Widely expressed, including in the heart, skeletal muscle and liver and, at lower levels, in the brain, colon, small intestine, placenta and lung. Down-regulated in ovarian serous papillary tumors.

Post-translational modifications. Auto-ubiquitinated.

Domain organisation. The RING-type zinc finger domain is required for E3 ligase activity.

Pathway. Protein modification; protein ubiquitination.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UPQ7-1	1	yes
Q9UPQ7-2	2
Q9UPQ7-3	3

RefSeq proteins (5): NP_001290068, NP_001290069, NP_001290070, NP_001290071, NP_055824* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001293	Znf_TRAF	Domain
IPR001478	PDZ	Domain
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR036034	PDZ_sf	Homologous_superfamily
IPR051971	E3_ubiquitin-PDZ_ligase	Family

Pfam: PF00595, PF13923

UniProt features (39 total): strand 13, compositionally biased region 6, splice variant 4, helix 4, region of interest 3, domain 2, zinc finger region 2, coiled-coil region 2, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1UHP	SOLUTION NMR
1WH1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPQ7-F1	63.52	0.23

Functional residue map

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

Post-translational modifications (1): 427

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 141 (showing top): GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, TTTGTAG_MIR520D, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GTACAGG_MIR486, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_CELL_JUNCTION_ORGANIZATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, chr3p13, DOANE_RESPONSE_TO_ANDROGEN_DN, RIGGI_EWING_SARCOMA_PROGENITOR_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, ATCATGA_MIR433, CTTTGTA_MIR524

GO Biological Process (2): neuromuscular junction development (GO:0007528), protein ubiquitination (GO:0016567)

GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (3): cytoplasm (GO:0005737), neuromuscular junction (GO:0031594), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
synapse organization	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
synapse	1
cell junction	1

Protein interactions and networks

STRING

1155 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDZRN3	MUSK	O15146	644
PDZRN3	KIDINS220	Q9ULH0	532
PDZRN3	SHQ1	Q6PI26	495
PDZRN3	SEMA4C	Q9C0C4	477
PDZRN3	MPP3	Q13368	440
PDZRN3	LNX1	Q8TBB1	438
PDZRN3	LNX2	Q8N448	432
PDZRN3	DLG3	Q92796	412
PDZRN3	ATXN7L3	Q14CW9	409
PDZRN3	CNTN3	Q9P232	386
PDZRN3	RANGRF	Q9HD47	381
PDZRN3	SH2D4B	Q5SQS7	374
PDZRN3	TMF1	P82094	362
PDZRN3	ZNF473	Q8WTR7	360
PDZRN3	CHIC1	Q5VXU3	352

IntAct

518 interactions, top by confidence:

A	B	Type	Score
SDHA	SDHB	psi-mi:“MI:0914”(association)	0.820
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
PDZRN3	E6	psi-mi:“MI:0407”(direct interaction)	0.610
RPS6KA1	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.610
PDZRN3	E6	psi-mi:“MI:0915”(physical association)	0.610
PDZRN3	Tax	psi-mi:“MI:0407”(direct interaction)	0.610
PDZRN3	Tax	psi-mi:“MI:0915”(physical association)	0.610
E6	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.610
NET1	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.610
Tax	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.610
RPS6KA1	RPS6KA1	psi-mi:“MI:0915”(physical association)	0.590
POTEB3	POTEF	psi-mi:“MI:0914”(association)	0.530
STX11	EXOC5	psi-mi:“MI:0914”(association)	0.530

BioGRID (74): PDZRN3 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), PDZRN3 (Proximity Label-MS), PDZRN3 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), PDZRN3 (Affinity Capture-Western), Dvl3 (Co-localization), PDZRN3 (Affinity Capture-Western), PDZRN3 (Co-localization), PDZRN3 (Co-fractionation), Dvl3 (Co-fractionation)

ESM2 similar proteins: A0A8M9QN10, A1L1G9, A2BGA0, A3KN19, A4QP72, A6H8H2, B0BF33, B0JZV4, E7FDW2, F1QJF4, F7BJB9, O15013, O73630, P19838, P25799, P51448, P59997, P68907, P98150, Q04861, Q08AE8, Q12923, Q1LYM3, Q3U1T9, Q5SWY7, Q5VZ89, Q5XGY0, Q5XK72, Q63369, Q64512, Q66JF7, Q69ZS0, Q6F3J0, Q6PF42, Q6ZUJ8, Q7SYN5, Q7Z3E5, Q7Z401, Q803Q4, Q8C033

Diamond homologs: A0A1L8FG46, A0A1L8FM16, B1AUE5, E7FDW2, O35445, O60683, O64425, P68907, P87176, Q09463, Q2KHN1, Q2TBT8, Q54S31, Q568Y3, Q5M807, Q5RFK9, Q5ZIR9, Q69ZS0, Q6PC78, Q8HXW8, Q91YT2, Q96GF1, Q99942, Q9P3U8, Q9SYU4, Q9UPQ7, Q9UUF0, Q9V8P9, O76064, P09309, Q2HJ46, Q4KLN8, Q5R4I2, Q803C1, Q80Z37, Q8VC56, Q9NS56, A0A8C0TYJ0, A0A8P0N4K0, B4F7E7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	PDZRN3	ubiquitination
UBE2D2	“up-regulates activity”	PDZRN3	binding
PDZRN3	“down-regulates quantity”	MUSK	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 179 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
Trafficking of AMPA receptors	6	28.1×	1e-05
Unblocking of NMDA receptors, glutamate binding and activation	6	28.1×	1e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	6	28.1×	1e-05
Long-term potentiation	6	24.6×	1e-05
Ras activation upon Ca2+ influx through NMDA receptor	5	24.6×	9e-05
Synaptic adhesion-like molecules	5	23.4×	1e-04
Assembly and cell surface presentation of NMDA receptors	7	15.3×	2e-05
Phase 0 - rapid depolarisation	5	14.9×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of synaptic transmission, glutamatergic	5	18.9×	3e-03
establishment or maintenance of epithelial cell apical/basal polarity	5	17.6×	3e-03
regulation of postsynaptic membrane neurotransmitter receptor levels	5	15.0×	6e-03
chemical synaptic transmission	10	4.7×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	194
Likely benign	6
Benign	5

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
208395	NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn)	Likely pathogenic
599577	NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg)	Likely pathogenic
599578	NM_015009.3(PDZRN3):c.1417-10T>C	Likely pathogenic

SpliceAI

2789 predictions. Top by Δscore:

Variant	Effect	Δscore
3:73384926:TTCTT:T	acceptor_gain	1.0000
3:73384928:CTT:C	acceptor_gain	1.0000
3:73384929:TT:T	acceptor_gain	1.0000
3:73384929:TTCTG:T	acceptor_loss	1.0000
3:73384931:C:CC	acceptor_gain	1.0000
3:73384932:T:A	acceptor_loss	1.0000
3:73384934:C:CT	acceptor_gain	1.0000
3:73384935:A:C	acceptor_gain	1.0000
3:73385782:CCAG:C	acceptor_gain	1.0000
3:73385783:CAGC:C	acceptor_gain	1.0000
3:73385786:C:CC	acceptor_gain	1.0000
3:73388065:TTAAT:T	acceptor_gain	1.0000
3:73388066:TAAT:T	acceptor_gain	1.0000
3:73388067:AATC:A	acceptor_loss	1.0000
3:73389811:CTTA:C	donor_loss	1.0000
3:73389812:TTA:T	donor_loss	1.0000
3:73389813:TA:T	donor_loss	1.0000
3:73389814:A:AC	donor_gain	1.0000
3:73389814:A:AT	donor_loss	1.0000
3:73389814:AC:A	donor_gain	1.0000
3:73389815:C:CC	donor_gain	1.0000
3:73389815:CC:C	donor_gain	1.0000
3:73389875:CAAT:C	acceptor_gain	1.0000
3:73389877:ATC:A	acceptor_loss	1.0000
3:73389878:TCTGA:T	acceptor_loss	1.0000
3:73389879:C:CA	acceptor_loss	1.0000
3:73389879:C:CC	acceptor_gain	1.0000
3:73391013:TGTAC:T	donor_loss	1.0000
3:73391014:GTACC:G	donor_loss	1.0000
3:73391016:A:AG	donor_loss	1.0000

AlphaMissense

7078 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:73383438:A:G	L1043P	1.000
3:73383447:A:T	I1040N	1.000
3:73383717:A:G	I950T	1.000
3:73383796:T:C	K924E	1.000
3:73383805:A:G	W921R	1.000
3:73383805:A:T	W921R	1.000
3:73384289:G:C	N759K	1.000
3:73384289:G:T	N759K	1.000
3:73384294:A:G	Y758H	1.000
3:73384298:G:C	S756R	1.000
3:73384298:G:T	S756R	1.000
3:73384300:T:G	S756R	1.000
3:73384491:A:G	L692P	1.000
3:73387981:C:A	R502M	1.000
3:73387993:A:G	L498S	1.000
3:73388023:A:G	L488P	1.000
3:73388036:C:G	A484P	1.000
3:73389817:T:G	Q472P	1.000
3:73389823:A:C	I470S	1.000
3:73389823:A:G	I470T	1.000
3:73389823:A:T	I470N	1.000
3:73389829:T:A	D468V	1.000
3:73389829:T:C	D468G	1.000
3:73389829:T:G	D468A	1.000
3:73389830:C:G	D468H	1.000
3:73389859:G:T	A458E	1.000
3:73391073:A:G	L433P	1.000
3:73391073:A:T	L433H	1.000
3:73391076:C:T	G432D	1.000
3:73391077:C:G	G432R	1.000

dbSNP variants (sampled 300 via entrez): RS1000037222 (3:73579565 G>A,C), RS1000042584 (3:73463864 T>G), RS1000090224 (3:73517165 T>A), RS1000094196 (3:73573009 G>A), RS1000120567 (3:73420303 C>T), RS1000131399 (3:73439802 G>A), RS1000132223 (3:73412425 T>C), RS1000138714 (3:73567728 G>A), RS1000146002 (3:73382555 T>C), RS1000159383 (3:73425778 T>C), RS1000159993 (3:73587787 G>A), RS1000168270 (3:73574207 T>C), RS1000169262 (3:73584527 T>C), RS1000173655 (3:73590482 G>A), RS1000173990 (3:73584959 A>C)

Disease associations

OMIM: gene MIM:609729 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): childhood-onset schizophrenia (MONDO:0957430)

Orphanet (1): Childhood-onset schizophrenia (Orphanet:641496)

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST001066_15	Dialysis-related mortality	6.000000e-07
GCST002927_16	Mercury levels	6.000000e-07
GCST007045_22	PR interval	6.000000e-17
GCST007226_14	PR interval	2.000000e-08
GCST007392_2	Mitochondrial DNA copy number (white blood cells)	6.000000e-07
GCST010321_114	PR interval	5.000000e-34
GCST010796_304	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_305	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-12
GCST010796_306	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-13
GCST010796_307	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-13
GCST010796_308	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_309	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_310	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-14
GCST011010_55	Electrocardiographic traits (multivariate)	8.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004462	PR interval
EFO:0006312	mitochondrial DNA measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11128347	PDZRN3		0.00	0

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression, affects cotreatment	4
bisphenol A	affects cotreatment, decreases methylation, increases expression	3
trichostatin A	affects cotreatment, increases expression, decreases expression	3
Tretinoin	increases expression	2
FR900359	increases phosphorylation	1
securinine	decreases expression	1
arsenite	increases methylation	1
sodium arsenite	affects methylation	1
benzo(e)pyrene	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Haloperidol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Methapyrilene	decreases methylation	1
Dihydrotestosterone	increases expression	1
Testosterone	decreases expression	1
Urethane	decreases expression, increases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
8-Bromo Cyclic Adenosine Monophosphate	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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