PDZD8

Summary

PDZD8 (PDZ domain containing 8, HGNC:26974) is a protein-coding gene on chromosome 10q25.3-q26.11, encoding PDZ domain-containing protein 8 (Q8NEN9). Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes.

Predicted to enable lipid binding activity and zinc ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site.

Source: NCBI Gene 118987 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual developmental disorder with autism and dysmorphic facies (Strong, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 149 total — 2 pathogenic
• Phenotypes (HPO): 22
• MANE Select transcript: NM_173791

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26974
Approved symbol	PDZD8
Name	PDZ domain containing 8
Location	10q25.3-q26.11
Locus type	gene with protein product
Status	Approved
Aliases	LYVAC, bA129M16.2, FLJ34427
Ensembl gene	ENSG00000165650
Ensembl biotype	protein_coding
OMIM	614235
Entrez	118987

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000334464, ENST00000482496, ENST00000489302, ENST00000489491, ENST00000868795

RefSeq mRNA: 1 — MANE Select: NM_173791 NM_173791

CCDS: CCDS7600

Canonical transcript exons

ENST00000334464 — 5 exons

Exon	Start	End
ENSE00001219610	117318872	117318974
ENSE00001219617	117340980	117341102
ENSE00001335216	117277274	117285471
ENSE00001335220	117374356	117375440
ENSE00003479571	117290186	117290348

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 99.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.2944 / max 2781.5895, expressed in 1796 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111603	17.8952	1796
111601	0.1517	35
111604	0.1304	33
111602	0.1171	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.31	gold quality
male germ cell	CL:0000015	95.01	gold quality
corpus epididymis	UBERON:0004359	94.80	gold quality
islet of Langerhans	UBERON:0000006	94.71	gold quality
jejunal mucosa	UBERON:0000399	94.50	gold quality
buccal mucosa cell	CL:0002336	94.38	gold quality
bone marrow	UBERON:0002371	94.00	gold quality
pigmented layer of retina	UBERON:0001782	93.52	gold quality
parotid gland	UBERON:0001831	93.22	gold quality
caput epididymis	UBERON:0004358	93.17	gold quality
right testis	UBERON:0004534	92.80	gold quality
bone marrow cell	CL:0002092	92.70	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.66	gold quality
left testis	UBERON:0004533	92.65	gold quality
seminal vesicle	UBERON:0000998	92.51	gold quality
trabecular bone tissue	UBERON:0002483	92.34	gold quality
substantia nigra pars compacta	UBERON:0001965	92.22	gold quality
testis	UBERON:0000473	91.81	gold quality
endothelial cell	CL:0000115	91.10	gold quality
calcaneal tendon	UBERON:0003701	91.03	gold quality
choroid plexus epithelium	UBERON:0003911	90.92	gold quality
corpus callosum	UBERON:0002336	90.74	gold quality
medial globus pallidus	UBERON:0002477	90.31	gold quality
endometrium	UBERON:0001295	90.29	gold quality
globus pallidus	UBERON:0001875	90.05	gold quality
sural nerve	UBERON:0015488	89.90	gold quality
cartilage tissue	UBERON:0002418	89.73	gold quality
colonic epithelium	UBERON:0000397	89.71	gold quality
dorsal root ganglion	UBERON:0000044	89.64	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.58	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-6	yes	2719.51
E-GEOD-76312	yes	1977.56
E-MTAB-7051	yes	497.08
E-HCAD-6	yes	154.09
E-CURD-112	yes	9.00
E-MTAB-6386	no	176.42
E-HCAD-5	no	2.17
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

217 targeting PDZD8, 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-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 7)

• A mutant of PDZD8 lacking the coiled-coil domain in its Gag-interacting region failed to bind Gag and promote HIV-1 infection. (PMID:20573829)
• PDZD8 is a novel moesin-interacting protein that suppresses infection by herpes simplex virus type 1. (PMID:21549406)
• The PDZD8 coiled-coil domain is sufficient for HIV-1 capsid binding, but other parts of the protein, including the PDZ domain, are apparently required for stabilizing the capsid and supporting HIV-1 infection. (PMID:24554657)
• PDZD8 is not absolutely necessary for HIV-1 infection. (PMID:25771112)
• PDZD8 tethers the endoplasmic reticulum to late endosomes and lysosomes via an interaction with Rab7. (PMID:31636202)
• Protrudin and PDZD8 contribute to neuronal integrity by promoting lipid extraction required for endosome maturation. (PMID:32917905)
• PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies. (PMID:35227461)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdzd8	ENSDARG00000088699
mus_musculus	Pdzd8	ENSMUSG00000074746
rattus_norvegicus	Pdzd8	ENSRNOG00000009460
drosophila_melanogaster	Pdzd8	FBGN0030358
caenorhabditis_elegans		WBGENE00008274

Protein

Protein identifiers

PDZ domain-containing protein 8 — Q8NEN9 (reviewed: Q8NEN9)

Alternative names: Sarcoma antigen NY-SAR-84/NY-SAR-104

All UniProt accessions (1): Q8NEN9

UniProt curated annotations — full annotation on UniProt →

Function. Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes. PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer. In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons. Plays an indirect role in the regulation of cell morphology and cytoskeletal organization. May inhibit herpes simplex virus 1 infection at an early stage.

Subunit / interactions. Interacts with MSN. (Microbial infection) Interacts with HIV-1 Gag polyprotein p55.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) [MIM:620021] An autosomal recessive neurodevelopmental disorder characterized by moderate to severe intellectual disability with autistic features, myopathy, and facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The SMP-LTD domain is a barrel-like domain that binds phospholipids.

RefSeq proteins (1): NP_776152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR002219	PKC_DAG/PE	Domain
IPR031468	SMP_LBD	Domain
IPR036034	PDZ_sf	Homologous_superfamily
IPR039275	PDZD8	Family
IPR041489	PDZ_6	Domain
IPR046349	C1-like_sf	Homologous_superfamily
IPR058801	PDZD8_N	Domain

Pfam: PF00130, PF17820, PF26547

UniProt features (31 total): sequence conflict 6, modified residue 5, region of interest 4, compositionally biased region 3, sequence variant 3, helix 3, domain 2, chain 1, transmembrane region 1, turn 1, zinc finger region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7F6J	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEN9-F1	63.07	0.18

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 (5): 496, 521, 538, 967, 980

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 230 (showing top): MYAATNNNNNNNGGC_UNKNOWN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_MEMBRANE_DOCKING, GOBP_MITOCHONDRIAL_CALCIUM_ION_HOMEOSTASIS, WANG_LMO4_TARGETS_DN, MCLACHLAN_DENTAL_CARIES_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_PROGENITOR_DN, ATF1_Q6, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, E4F1_Q6, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_MONOATOMIC_ION_HOMEOSTASIS, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOBP_LIPID_LOCALIZATION, GOBP_ORGANELLE_LOCALIZATION

GO Biological Process (5): lipid transport (GO:0006869), cytoskeleton organization (GO:0007010), regulation of cell morphogenesis (GO:0022604), mitochondrial calcium ion homeostasis (GO:0051560), obsolete mitochondrion-endoplasmic reticulum membrane tethering (GO:1990456)

GO Molecular Function (4): zinc ion binding (GO:0008270), lipid binding (GO:0008289), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): mitochondrion (GO:0005739), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), mitochondria-associated endoplasmic reticulum membrane contact site (GO:0044233), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cytoplasm	2
intracellular membrane-bounded organelle	2
transport	1
lipid localization	1
organelle organization	1
cell morphogenesis	1
regulation of anatomical structure morphogenesis	1
mitochondrion	1
intracellular calcium ion homeostasis	1
transition metal ion binding	1
cation binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
organelle membrane contact site	1
endomembrane system	1

Protein interactions and networks

STRING

1140 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDZD8	ZFYVE27	Q5T4F4	861
PDZD8	VAPB	O95292	690
PDZD8	RMDN3	Q96TC7	668
PDZD8	VPS13A	Q96RL7	643
PDZD8	VPS13C	Q709C8	622
PDZD8	BCAP31	P51572	595
PDZD8	PACS2	Q86VP3	589
PDZD8	STARD3	Q14849	585
PDZD8	OSBPL5	Q9H0X9	583
PDZD8	VAPA	Q9P0L0	561
PDZD8	MFN2	O95140	545
PDZD8	ITPR3	Q14573	540
PDZD8	TEX2	Q8IWB9	530
PDZD8	MCU	Q8NE86	524
PDZD8	HSPA9	P30036	514

IntAct

184 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TMEM9B	DNAJC13	psi-mi:“MI:0914”(association)	0.640
pipB	PDZD8	psi-mi:“MI:0915”(physical association)	0.600
pipB	PDZD8	psi-mi:“MI:0403”(colocalization)	0.600
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
BTN2A1	POTEF	psi-mi:“MI:0914”(association)	0.530
FSHR	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
EVA1C	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ZNRF4	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
KCNS3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
PCDHB16	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
CNGA3	C2CD2L	psi-mi:“MI:0914”(association)	0.530
PCDHB7	C2CD2L	psi-mi:“MI:0914”(association)	0.530
TREML2	SNX2	psi-mi:“MI:0914”(association)	0.530
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
BTNL3	FAM171A2	psi-mi:“MI:0914”(association)	0.530
LRRTM1	UPK3BL1	psi-mi:“MI:0914”(association)	0.530

BioGRID (520): PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Proximity Label-MS), PDZD8 (Proximity Label-MS), PDZD8 (Proximity Label-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9QN10, B9EJ80, D3YVL2, E9Q0S6, G3X9J0, O08774, O14523, O14924, O15013, O35711, O54960, P97433, Q08AE8, Q08DX0, Q12923, Q13009, Q1LXR6, Q1LYM3, Q3UHC7, Q4KMM3, Q4V8B0, Q5SXA9, Q5VWQ8, Q60610, Q64512, Q6AWC2, Q6DTM3, Q6NXJ0, Q6P730, Q6ZUJ8, Q7T2V3, Q7TNN8, Q80U12, Q80X80, Q8BPQ7, Q8C033, Q8CGE9, Q8IX03, Q8ND30, Q8NEN9

Diamond homologs: B2RTY4, B9EJ80, E7EZG2, Q8C170, Q8NEN9, Q9Z1N3, A1ZA47, A2RUV4, A4D2P6, A5PKA5, A8MUH7, D3YZU1, D3ZFD0, G5EDM4, O14745, O14907, O14910, O15021, O15085, O60307, O60759, O88951, O88952, P70441, Q0P5F3, Q0QWG9, Q15599, Q28619, Q2KIB6, Q32LE7, Q32LM6, Q3SZK8, Q3T0X8, Q3U214, Q3UHD6, Q4R6G4, Q52KW0, Q5EBL8, Q5F425, Q5I0L6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PDZD8	“form complex”	MSN/PDZD8	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 198 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
Potassium Channels	8	7.8×	1e-03
R-HSA-425393	7	6.6×	9e-03
SLC-mediated transmembrane transport	11	4.8×	3e-03
Transport of small molecules	19	3.5×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of intracellular pH	5	17.8×	3e-03
transmembrane transport	12	12.0×	4e-07
potassium ion transmembrane transport	11	8.8×	3e-05
potassium ion transport	7	7.9×	5e-03
monoatomic ion transport	8	7.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	124
Likely benign	15
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1703715	NM_173791.5(PDZD8):c.2197_2200del (p.Val732_Ser733insTer)	Pathogenic
1703716	NM_173791.5(PDZD8):c.894C>G (p.Tyr298Ter)	Pathogenic

SpliceAI

1317 predictions. Top by Δscore:

Variant	Effect	Δscore
10:117290182:TTA:T	donor_loss	1.0000
10:117290183:TACCT:T	donor_loss	1.0000
10:117290184:A:AG	donor_loss	1.0000
10:117290185:CC:C	donor_loss	1.0000
10:117290187:T:TA	donor_gain	1.0000
10:117290354:A:C	acceptor_gain	1.0000
10:117341001:A:C	donor_gain	1.0000
10:117374352:TCA:T	donor_loss	1.0000
10:117374353:CACC:C	donor_loss	1.0000
10:117285485:T:C	acceptor_gain	0.9900
10:117285485:T:TC	acceptor_gain	0.9900
10:117290184:A:AC	donor_gain	0.9900
10:117290184:ACCT:A	donor_gain	0.9900
10:117290185:C:CC	donor_gain	0.9900
10:117290185:CCT:C	donor_gain	0.9900
10:117290185:CCTC:C	donor_gain	0.9900
10:117290292:C:CC	acceptor_gain	0.9900
10:117290346:AAC:A	acceptor_loss	0.9900
10:117290348:CCTT:C	acceptor_gain	0.9900
10:117290349:CTTTG:C	acceptor_loss	0.9900
10:117290350:T:C	acceptor_gain	0.9900
10:117290351:T:C	acceptor_gain	0.9900
10:117290351:T:TC	acceptor_gain	0.9900
10:117290354:A:AC	acceptor_gain	0.9900
10:117318854:A:AC	donor_gain	0.9900
10:117318855:C:CC	donor_gain	0.9900
10:117318871:CCGT:C	donor_gain	0.9900
10:117318919:A:C	donor_gain	0.9900
10:117340973:AACAT:A	donor_loss	0.9900
10:117340974:ACAT:A	donor_loss	0.9900

AlphaMissense

7499 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:117283464:A:G	L1090P	1.000
10:117283467:A:G	L1089P	1.000
10:117283473:A:G	L1087P	1.000
10:117283605:A:G	L1043P	1.000
10:117283674:C:T	G1020D	1.000
10:117283686:A:T	V1016D	1.000
10:117284094:C:G	C880S	1.000
10:117284095:A:G	C880R	1.000
10:117284095:A:T	C880S	1.000
10:117284102:A:C	H877Q	1.000
10:117284102:A:T	H877Q	1.000
10:117284104:G:C	H877D	1.000
10:117284107:A:G	C876R	1.000
10:117284128:A:G	C869R	1.000
10:117284136:G:T	A866D	1.000
10:117284147:C:A	W862C	1.000
10:117284147:C:G	W862C	1.000
10:117284149:A:G	W862R	1.000
10:117284149:A:T	W862R	1.000
10:117284162:A:C	C857W	1.000
10:117284163:C:G	C857S	1.000
10:117284163:C:T	C857Y	1.000
10:117284164:A:G	C857R	1.000
10:117284164:A:T	C857S	1.000
10:117284171:A:C	C854W	1.000
10:117284172:C:A	C854F	1.000
10:117284172:C:G	C854S	1.000
10:117284172:C:T	C854Y	1.000
10:117284173:A:G	C854R	1.000
10:117284173:A:T	C854S	1.000

dbSNP variants (sampled 300 via entrez): RS1000145569 (10:117364212 G>A,C), RS1000157247 (10:117364456 T>C), RS1000163174 (10:117315246 C>G), RS1000177810 (10:117334881 C>A), RS1000180248 (10:117289616 C>T), RS1000235334 (10:117298788 A>C,G), RS1000246357 (10:117281448 G>T), RS1000251533 (10:117348139 C>T), RS1000369591 (10:117296881 A>C), RS1000372655 (10:117306149 G>T), RS1000414101 (10:117312602 T>A), RS1000421142 (10:117289266 T>C), RS1000519157 (10:117291315 G>A), RS1000522064 (10:117375410 G>A,C,T), RS1000531409 (10:117344374 A>G)

Disease associations

OMIM: gene MIM:614235 | disease phenotypes: MIM:620021

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual developmental disorder with autism and dysmorphic facies	Strong	Autosomal recessive

Mondo (1): intellectual developmental disorder with autism and dysmorphic facies (MONDO:0859281)

Orphanet (0):

HPO phenotypes

22 total (22 of 22 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000175	Cleft palate
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000272	Malar flattening
HP:0000316	Hypertelorism
HP:0000369	Low-set ears
HP:0000483	Astigmatism
HP:0000545	Myopia
HP:0000646	Amblyopia
HP:0000722	Compulsive behaviors
HP:0000729	Autistic behavior
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001488	Bilateral ptosis
HP:0001845	Overlapping toe
HP:0002650	Scoliosis
HP:0003593	Infantile onset
HP:0007018	Attention deficit hyperactivity disorder
HP:0010529	Echolalia
HP:0100023	Recurrent hand flapping

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001559_2	Early cardiac repolarization	6.000000e-06
GCST003992_35	Photic sneeze reflex	1.000000e-28
GCST005951_66	Body mass index	4.000000e-08
GCST006940_177	Neurociticism	2.000000e-09
GCST007576_223	Chronotype	5.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004885	early cardiac repolarization measurement
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0004340	body mass index
EFO:0007660	neuroticism measurement
EFO:0008328	chronotype measurement

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
rs14240	PDZD8, SLC18A2		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Estradiol	increases expression	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
arsenite	affects binding, decreases reaction	1
perfluorooctanoic acid	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Ribonucleotides	affects binding	1
Tretinoin	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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