PLEKHA3

Summary

PLEKHA3 (pleckstrin homology domain containing A3, HGNC:14338) is a protein-coding gene on chromosome 2q31.2, encoding Pleckstrin homology domain-containing family A member 3 (Q9HB20). Plays a role in regulation of vesicular cargo transport from the trans-Golgi network (TGN) to the plasma membrane.

Enables identical protein binding activity and phosphatidylinositol-4-phosphate binding activity. Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Located in Golgi apparatus.

Source: NCBI Gene 65977 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 30 total — 1 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_019091

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14338
Approved symbol	PLEKHA3
Name	pleckstrin homology domain containing A3
Location	2q31.2
Locus type	gene with protein product
Status	Approved
Aliases	FAPP1
Ensembl gene	ENSG00000116095
Ensembl biotype	protein_coding
OMIM	607774
Entrez	65977

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000234453, ENST00000421187, ENST00000453653, ENST00000461474, ENST00000896476, ENST00000923676, ENST00000923677, ENST00000956298

RefSeq mRNA: 1 — MANE Select: NM_019091 NM_019091

CCDS: CCDS33336

Canonical transcript exons

ENST00000234453 — 8 exons

Exon	Start	End
ENSE00000782688	178495496	178495660
ENSE00000782689	178499211	178499254
ENSE00000782690	178501061	178501176
ENSE00001512196	178503760	178516463
ENSE00001512198	178480457	178480909
ENSE00003483180	178493853	178493989
ENSE00003667009	178485641	178485757
ENSE00003683300	178490659	178490814

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 97.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0313 / max 44.3196, expressed in 1582 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23936	3.2551	1516
23935	0.7762	478

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	97.44	gold quality
oviduct epithelium	UBERON:0004804	96.18	gold quality
endothelial cell	CL:0000115	96.05	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.35	gold quality
left ventricle myocardium	UBERON:0006566	93.89	gold quality
oocyte	CL:0000023	93.33	gold quality
secondary oocyte	CL:0000655	92.73	gold quality
myocardium	UBERON:0002349	92.19	gold quality
heart right ventricle	UBERON:0002080	91.92	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.62	gold quality
pancreatic ductal cell	CL:0002079	90.98	gold quality
calcaneal tendon	UBERON:0003701	90.89	gold quality
corpus epididymis	UBERON:0004359	90.37	gold quality
cartilage tissue	UBERON:0002418	89.78	gold quality
tibialis anterior	UBERON:0001385	89.50	gold quality
cauda epididymis	UBERON:0004360	89.36	gold quality
right testis	UBERON:0004534	88.99	gold quality
testis	UBERON:0000473	88.78	gold quality
caput epididymis	UBERON:0004358	88.76	gold quality
colonic epithelium	UBERON:0000397	88.68	gold quality
left testis	UBERON:0004533	88.68	gold quality
cerebellar vermis	UBERON:0004720	88.67	gold quality
ileal mucosa	UBERON:0000331	88.13	gold quality
stromal cell of endometrium	CL:0002255	87.94	gold quality
islet of Langerhans	UBERON:0000006	87.86	gold quality
adrenal tissue	UBERON:0018303	87.86	gold quality
saphenous vein	UBERON:0007318	87.33	gold quality
germinal epithelium of ovary	UBERON:0001304	87.30	gold quality
palpebral conjunctiva	UBERON:0001812	87.09	gold quality
bone marrow cell	CL:0002092	87.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

133 targeting PLEKHA3, 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-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-106B-5P	99.88	74.72	2795

Literature-anchored findings (GeneRIF, showing 6)

• Data show that FAPP1 and 2 are essential components of a phosphatidylinositol 4-phosphate- and ADP-ribosylation factor-regulated machinery that controls generation of constitutive post-Golgi carriers. (PMID:15107860)
• The micelle-bound structure of the FAPP1 pleckstrin homology domain reveals how its prominent wedge independently tubulates Golgi membranes by leaflet penetration. (PMID:20300118)
• We report the complete (1)H, (13)C and (15)N resonance assignments of the FAPP1-PH in its free state and those induced by PtdIns(4)P or detergent micelles. (PMID:21298564)
• Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain. (PMID:21454700)
• Binding sites on Fapp1 protein for Arf1 and phosphatidylinositol-4-phosphate minimally overlap (PMID:24462251)
• The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1. (PMID:30659099)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	plekha3	ENSDARG00000056601
mus_musculus	Plekha3	ENSMUSG00000002733
rattus_norvegicus	Plekha3	ENSRNOG00000011830
drosophila_melanogaster	CG6299	FBGN0030641
caenorhabditis_elegans	tag-296	WBGENE00018632
caenorhabditis_elegans		WBGENE00022347
caenorhabditis_elegans	F49D11.10	WBGENE00045433

Paralogs (5): PLEKHA8 (ENSG00000106086), CERT1 (ENSG00000113163), GLTP (ENSG00000139433), GLTPD2 (ENSG00000182327), CPTP (ENSG00000224051)

Protein

Protein identifiers

Pleckstrin homology domain-containing family A member 3 — Q9HB20 (reviewed: Q9HB20)

Alternative names: Phosphatidylinositol-four-phosphate adapter protein 1

All UniProt accessions (3): Q9HB20, F8WCR7, H7C0Q0

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in regulation of vesicular cargo transport from the trans-Golgi network (TGN) to the plasma membrane. Regulates Golgi phosphatidylinositol 4-phosphate (PtdIns(4)P) levels and activates the PtdIns(4)P phosphatase activity of SACM1L when it binds PtdIns(4)P in ’trans’ configuration. Binds preferentially to PtdIns(4)P. Negatively regulates APOB secretion from hepatocytes.

Subunit / interactions. Interacts with GTP-bound ARF1. Interacts with SACM1L and VAPA and/or VAPB to form a ternary complex.

Subcellular location. Golgi apparatus. trans-Golgi network membrane.

Tissue specificity. Widely expressed.

Domain organisation. The PH domain binds the small GTPase ARF1 and phosphatidylinositol-4-phosphate (PtdIns4P) with high selectivity, and is required for its recruitment to the trans-Golgi network (TGN).

RefSeq proteins (1): NP_061964* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR045188	Boi1/Boi2-like	Family

Pfam: PF00169

UniProt features (21 total): strand 7, helix 3, region of interest 3, turn 2, modified residue 2, chain 1, domain 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3RCP	X-RAY DIFFRACTION	1.9
2KCJ	SOLUTION NMR
2MDX	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HB20-F1	71.75	0.45

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 (2): 236, 244

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1660499	Synthesis of PIPs at the plasma membrane

MSigDB gene sets: 162 (showing top): WANG_CLIM2_TARGETS_UP, GOBP_ENDOSOME_ORGANIZATION, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, CTATGCA_MIR153, GOCC_TRANS_GOLGI_NETWORK, GOBP_RECEPTOR_METABOLIC_PROCESS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, ACTTTAT_MIR1425P, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, GOBP_CYTOSOLIC_TRANSPORT, GOCC_RECYCLING_ENDOSOME

GO Biological Process (3): receptor recycling (GO:0001881), endosome organization (GO:0007032), retrograde transport, endosome to Golgi (GO:0042147)

GO Molecular Function (4): identical protein binding (GO:0042802), phosphatidylinositol-4-phosphate binding (GO:0070273), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (7): Golgi membrane (GO:0000139), early endosome (GO:0005769), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), recycling endosome (GO:0055037), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
PI Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
endosome	2
cytoplasm	2
cellular anatomical structure	2
endocytosis	1
receptor metabolic process	1
endomembrane system organization	1
vesicle organization	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
protein binding	1
anion binding	1
phosphatidylinositol phosphate binding	1
Golgi apparatus	1
bounding membrane of organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1

Protein interactions and networks

STRING

722 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLEKHA3	ARF1	P10947	994
PLEKHA3	CEL	P19835	902
PLEKHA3	GLTP	Q9NZD2	902
PLEKHA3	PLEK2	Q9NYT0	782
PLEKHA3	PLEK	P08567	782
PLEKHA3	CDKN2A	P42771	701
PLEKHA3	PI4KB	P78405	620
PLEKHA3	PLCD1	P51178	572
PLEKHA3	PLEKHA1	Q9HB21	546
PLEKHA3	PLEKHA2	Q9HB19	509
PLEKHA3	SERPINA4	P29622	507
PLEKHA3	PLEKHA4	Q9H4M7	496
PLEKHA3	CYTH3	O43739	479
PLEKHA3	CLINT1	Q14677	475
PLEKHA3	H1-8	Q8IZA3	448
PLEKHA3	GOLPH3	Q9H4A6	448

IntAct

46 interactions, top by confidence:

A	B	Type	Score
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
PLEKHA3	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.600
SH2B2	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.560
MORF4L1	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.560
PLEKHA3	MORF4L1	psi-mi:“MI:0915”(physical association)	0.560
DOK3	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.560
TCL1B	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.560
MRPL45	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.560
RNMT	PLEKHA3	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
HAL	KCTD16	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
SEC23B	SEC16A	psi-mi:“MI:0914”(association)	0.530
	PLEKHA3	psi-mi:“MI:0407”(direct interaction)	0.440
Csde1	TXNDC9	psi-mi:“MI:0914”(association)	0.350
CSDE1	PABPC4L	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
ECPAS	PSMD1	psi-mi:“MI:0914”(association)	0.350
OSBP	ESYT2	psi-mi:“MI:0914”(association)	0.350
VAPA	ESYT2	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
PLEKHA3	SEC24D	psi-mi:“MI:0914”(association)	0.350

BioGRID (42): PLEKHA3 (Reconstituted Complex), PLEKHA3 (Affinity Capture-MS), PLEKHA3 (Affinity Capture-MS), PLEKHA3 (Two-hybrid), PLEKHA3 (Affinity Capture-MS), PLEKHA3 (Two-hybrid), PLEKHA3 (Two-hybrid), DOK3 (Two-hybrid), SH2B2 (Two-hybrid), MORF4L1 (Two-hybrid), TCL1B (Two-hybrid), MYO15B (Two-hybrid), MRPL45 (Two-hybrid), PLEKHA3 (Affinity Capture-MS), PLEKHA3 (Proximity Label-MS)

ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A0JNW5, A2RSJ4, F4HRV8, O17482, O95876, P49021, P79457, Q08D51, Q28C33, Q3B7T1, Q3UD82, Q498F0, Q5H8C4, Q5JSH3, Q5JTW2, Q5QNQ6, Q5R9R1, Q5THJ4, Q5ZLG9, Q6BDS2, Q6GLR7, Q6GQV7, Q6INA9, Q6NRZ1, Q6NVE8, Q6ZMT4, Q6ZWJ1, Q709C8, Q80T23, Q80XK6, Q812E4, Q8BX70, Q8BXR9, Q8C5W4, Q8IWB9, Q8N3A8, Q8N7X0, Q8TDW5

Diamond homologs: A0A223HDI2, A2BG43, B0BLT4, B0BNM9, B0YN54, D2KC46, D3ZY60, F1MS15, O14340, O22797, O95397, P16258, P22059, P35845, P68265, P68266, Q12451, Q3B7Z2, Q5M7Y0, Q5QNQ6, Q5R6M6, Q5U3N0, Q63ZQ3, Q6NRZ4, Q6NTN5, Q6NU44, Q6P3Q6, Q6VVX2, Q80W71, Q8C115, Q8IVE3, Q969R2, Q96JA3, Q9EQG9, Q9ERS4, Q9GKI7, Q9HB20, Q9JL62, Q9NZD2, Q9SAF0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 31 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
G2/M Checkpoints	5	33.6×	8e-06
SARS-CoV-2-host interactions	5	29.7×	1e-05
SARS-CoV-2 Infection	5	20.1×	6e-05
SARS-CoV Infections	5	13.9×	2e-04
Membrane Trafficking	6	11.1×	1e-04
Vesicle-mediated transport	6	10.4×	1e-04
Viral Infection Pathways	6	9.2×	2e-04
Signaling by Rho GTPases	5	8.6×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	21
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
4070955	NM_019091.4(PLEKHA3):c.515A>G (p.Glu172Gly)	Pathogenic
2424039	NC_000002.11:g.(?179296824)(179518254_?)del	Likely pathogenic
560108	Single allele	Likely pathogenic

SpliceAI

1328 predictions. Top by Δscore:

Variant	Effect	Δscore
2:178490644:T:TA	acceptor_gain	1.0000
2:178490649:A:AG	acceptor_gain	1.0000
2:178490650:T:G	acceptor_gain	1.0000
2:178490652:A:AG	acceptor_gain	1.0000
2:178490653:T:G	acceptor_gain	1.0000
2:178490655:A:AG	acceptor_gain	1.0000
2:178490656:T:G	acceptor_gain	1.0000
2:178490656:TA:T	acceptor_loss	1.0000
2:178490657:A:AC	acceptor_loss	1.0000
2:178490657:A:AG	acceptor_gain	1.0000
2:178490658:G:GT	acceptor_gain	1.0000
2:178490658:GT:G	acceptor_gain	1.0000
2:178490658:GTT:G	acceptor_gain	1.0000
2:178490658:GTTC:G	acceptor_gain	1.0000
2:178490658:GTTCA:G	acceptor_gain	1.0000
2:178490812:AAGGT:A	donor_loss	1.0000
2:178490814:GGT:G	donor_loss	1.0000
2:178490815:G:GG	donor_gain	1.0000
2:178490815:G:T	donor_loss	1.0000
2:178490816:T:A	donor_gain	1.0000
2:178490816:T:G	donor_loss	1.0000
2:178493851:A:AG	acceptor_gain	1.0000
2:178493852:G:GG	acceptor_gain	1.0000
2:178493945:G:GT	donor_gain	1.0000
2:178493946:A:T	donor_gain	1.0000
2:178494029:G:GT	donor_gain	1.0000
2:178499200:A:AG	acceptor_gain	1.0000
2:178499201:A:G	acceptor_gain	1.0000
2:178499202:A:AG	acceptor_gain	1.0000
2:178501052:A:AG	acceptor_gain	1.0000

AlphaMissense

1986 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:178480876:G:A	G3R	1.000
2:178480876:G:C	G3R	1.000
2:178480876:G:T	G3W	1.000
2:178480877:G:A	G3E	1.000
2:178480888:A:G	K7E	1.000
2:178480890:G:C	K7N	1.000
2:178480890:G:T	K7N	1.000
2:178480891:T:A	W8R	1.000
2:178480891:T:C	W8R	1.000
2:178480892:G:C	W8S	1.000
2:178480893:G:C	W8C	1.000
2:178480893:G:T	W8C	1.000
2:178480895:C:T	T9I	1.000
2:178485641:G:A	G14D	1.000
2:178485643:T:A	W15R	1.000
2:178485643:T:C	W15R	1.000
2:178485645:G:C	W15C	1.000
2:178485645:G:T	W15C	1.000
2:178485652:C:A	R18S	1.000
2:178485652:C:G	R18G	1.000
2:178485653:G:C	R18P	1.000
2:178485655:T:A	W19R	1.000
2:178485655:T:C	W19R	1.000
2:178485658:T:C	F20L	1.000
2:178485659:T:C	F20S	1.000
2:178485660:T:A	F20L	1.000
2:178485660:T:G	F20L	1.000
2:178485680:T:C	L27S	1.000
2:178485682:T:C	S28P	1.000
2:178485685:T:C	Y29H	1.000

dbSNP variants (sampled 300 via entrez): RS1000134292 (2:178504820 A>C,G), RS1000334816 (2:178511926 C>T), RS1000347904 (2:178500693 C>T), RS1000430012 (2:178515901 G>T), RS1000779678 (2:178510906 G>A), RS1000785467 (2:178491212 T>C), RS1000877759 (2:178482049 C>T), RS1001076741 (2:178502409 A>C), RS1001077344 (2:178488894 T>C), RS1001101189 (2:178497913 TG>T), RS1001167856 (2:178478674 C>A,T), RS1001180370 (2:178501113 C>T), RS1001210349 (2:178509919 G>A,T), RS1001283949 (2:178478945 G>A), RS1001326384 (2:178509668 A>C,T)

Disease associations

OMIM: gene MIM:607774 | disease phenotypes: MIM:604145, MIM:608807, MIM:143890

GenCC curated gene-disease

Mondo (3): dilated cardiomyopathy 1G (MONDO:0011400), autosomal recessive limb-girdle muscular dystrophy type 2J (MONDO:0012127), hypercholesterolemia, familial, 1 (MONDO:0007750)

Orphanet (3): Titin-related limb-girdle muscular dystrophy R10 (Orphanet:140922), Familial isolated dilated cardiomyopathy (Orphanet:154), Homozygous familial hypercholesterolemia (Orphanet:391665)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003332_1	Rapid functional decline in sporadic amyotrophic lateral sclerosis	2.000000e-08
GCST010002_405	Refractive error	1.000000e-70
GCST90011898_91	Alanine aminotransferase levels	1.000000e-08
GCST90011899_82	Aspartate aminotransferase levels	6.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007784	functional decline measurement
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C565824	Cardiomyopathy, Dilated, 1g (supp.)
C563854	Muscular Dystrophy, Limb-Girdle, Type 2J (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, affects cotreatment, decreases expression	6
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	increases expression, increases abundance	2
entinostat	decreases expression, affects cotreatment	2
Tobacco Smoke Pollution	increases expression	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Temozolomide	decreases expression	1
Arsenic	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Methyl Methanesulfonate	increases expression	1
Testosterone	decreases expression	1
Urethane	increases expression	1
Cyclosporine	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT00000594	PHASE3	COMPLETED	NHLBI Type II Coronary Intervention Study
NCT00092833	PHASE3	TERMINATED	Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
NCT00134485	PHASE3	COMPLETED	Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia
NCT00134511	PHASE3	COMPLETED	Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
NCT00136981	PHASE3	COMPLETED	Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
NCT00384293	PHASE3	TERMINATED	Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED)
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT00280995	PHASE2	COMPLETED	Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT00281008	PHASE2	COMPLETED	Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT01375751	PHASE2	COMPLETED	Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
NCT00515307	PHASE1	COMPLETED	Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
NCT01583647	PHASE1	TERMINATED	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
NCT05989620	Not specified	RECRUITING	Long-Term Development of Muscular Dystrophy Outcome Assessments
NCT00005168	Not specified	COMPLETED	Hyperapo B and Coronary Heart Disease
NCT01753232	Not specified	COMPLETED	Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
NCT03018678	Not specified	COMPLETED	Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
NCT03110432	Not specified	COMPLETED	Prospective German Very High Cardiovascular Risk Patients Dyslipidemia Treatment Indication Registry
NCT03795038	Not specified	COMPLETED	Comparison of the Plasma Lipoprotein Apheresis Systems DIAMED and MONET vs. the Whole Blood Apheresis System DALI
NCT03989167	Not specified	RECRUITING	Clinical Decision Support for Familial Hypercholesterolemia
NCT04073797	Not specified	RECRUITING	PET Imaging of Inflammation and Lipid Lowering Study
NCT04118348	Not specified	COMPLETED	Evaluating the Efficacy of Pediatric Lipid Screening Alerts
NCT04313270	Not specified	UNKNOWN	Subclinical Atherosclerosis in Patients With Familial Hypercholesterolemia Treated With Evolocumab®
NCT04526457	Not specified	COMPLETED	Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
NCT04656028	Not specified	ACTIVE_NOT_RECRUITING	Genetic Testing and Motivational Counseling for FH
NCT04722068	Not specified	COMPLETED	Regeneron 1331 Kinetics Sub-Study HoFH
NCT04837638	Not specified	UNKNOWN	Diet Quality and Coronary Artery Calcification in Adults With Heterozygous Familial Hypercholesterolemia
NCT06555120	Not specified	RECRUITING	Screening for Familial Hypercholesterolemia in Children
NCT07543731	Not specified	NOT_YET_RECRUITING	A Real-World Study of Long-Term Adherence and Persistence to Inclisiran, Evolocumab, and Alirocumab