PLEKHH2

Summary

PLEKHH2 (pleckstrin homology, MyTH4 and FERM domain containing H2, HGNC:30506) is a protein-coding gene on chromosome 2p21, encoding Pleckstrin homology domain-containing family H member 2 (Q8IVE3). In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane.

Predicted to enable actin binding activity. Predicted to be involved in negative regulation of actin filament depolymerization. Located in several cellular components, including cytosol; lamellipodium; and nuclear body.

Source: NCBI Gene 130271 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 259 total
• MANE Select transcript: NM_172069

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30506
Approved symbol	PLEKHH2
Name	pleckstrin homology, MyTH4 and FERM domain containing H2
Location	2p21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA2028, PLEKHH1L
Ensembl gene	ENSG00000152527
Ensembl biotype	protein_coding
OMIM	612723
Entrez	130271

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 retained_intron, 4 protein_coding, 2 nonsense_mediated_decay

ENST00000282406, ENST00000405000, ENST00000405223, ENST00000460356, ENST00000480103, ENST00000490038, ENST00000491692, ENST00000493408, ENST00000890790, ENST00000923731, ENST00000958645

RefSeq mRNA: 1 — MANE Select: NM_172069 NM_172069

CCDS: CCDS1812

Canonical transcript exons

ENST00000282406 — 30 exons

Exon	Start	End
ENSE00001724931	43765413	43767987
ENSE00001899776	43637260	43637379
ENSE00002107213	43740946	43741043
ENSE00003459255	43743834	43743989
ENSE00003481954	43726272	43726451
ENSE00003495061	43729637	43729745
ENSE00003506652	43745866	43745963
ENSE00003508326	43762304	43762390
ENSE00003513497	43703981	43704056
ENSE00003519311	43706322	43706416
ENSE00003524341	43694431	43694514
ENSE00003540650	43678863	43678925
ENSE00003554523	43709990	43710126
ENSE00003560525	43757119	43757264
ENSE00003571990	43742741	43742918
ENSE00003576718	43731490	43731602
ENSE00003578163	43697171	43697356
ENSE00003584248	43758900	43759029
ENSE00003605067	43710489	43710575
ENSE00003605384	43707401	43707545
ENSE00003615232	43644671	43644796
ENSE00003622591	43712225	43712383
ENSE00003625628	43738341	43738520
ENSE00003640741	43695143	43695224
ENSE00003659524	43753619	43753760
ENSE00003673295	43699647	43700608
ENSE00003676843	43692514	43692663
ENSE00003689859	43764228	43764365
ENSE00003691108	43720669	43720749
ENSE00003691543	43710220	43710330

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 97.37.

FANTOM5 (CAGE): breadth broad, TPM avg 3.1350 / max 284.8365, expressed in 843 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19982	3.1350	843

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.37	gold quality
tibia	UBERON:0000979	97.08	gold quality
right lung	UBERON:0002167	95.85	gold quality
sural nerve	UBERON:0015488	94.20	gold quality
decidua	UBERON:0002450	93.60	gold quality
left ovary	UBERON:0002119	93.35	gold quality
body of uterus	UBERON:0009853	93.21	gold quality
renal medulla	UBERON:0000362	92.56	gold quality
germinal epithelium of ovary	UBERON:0001304	92.53	gold quality
lung	UBERON:0002048	92.45	gold quality
ovary	UBERON:0000992	92.14	gold quality
endocervix	UBERON:0000458	91.95	gold quality
tendon	UBERON:0000043	91.83	gold quality
right ovary	UBERON:0002118	91.66	gold quality
visceral pleura	UBERON:0002401	91.64	gold quality
lower lobe of lung	UBERON:0008949	91.26	gold quality
mucosa of stomach	UBERON:0001199	91.22	gold quality
myometrium	UBERON:0001296	91.15	gold quality
upper lobe of left lung	UBERON:0008952	90.82	gold quality
upper lobe of lung	UBERON:0008948	90.70	gold quality
uterus	UBERON:0000995	90.57	gold quality
endometrium	UBERON:0001295	89.86	gold quality
layer of synovial tissue	UBERON:0007616	89.12	gold quality
buccal mucosa cell	CL:0002336	88.70	gold quality
metanephros cortex	UBERON:0010533	88.31	gold quality
uterine cervix	UBERON:0000002	88.22	gold quality
parietal pleura	UBERON:0002400	88.20	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.02	gold quality
oviduct epithelium	UBERON:0004804	87.91	gold quality
synovial joint	UBERON:0002217	87.78	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8221	yes	1240.54
E-HCAD-25	yes	15.55
E-ANND-3	yes	14.73
E-CURD-135	no	976.50
E-MTAB-9906	no	559.45
E-MTAB-8060	no	42.60
E-MTAB-6678	no	3.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

158 targeting PLEKHH2, 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-5692A	100.00	74.40	6850
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-5696	99.98	72.36	4487
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-3148	99.97	75.06	6478
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 2)

• PLEKHH2, which has mRNA and protein expression exclusively in the glomerulus, may be a genetic risk factor for susceptibility to diabetic nephropathy in the diabetic population (PMID:18752002)
• Suggest a structural and functional role for Plekhh2 in the podocyte foot processes. (PMID:22832517)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	plekhh2	ENSDARG00000040851
mus_musculus	Plekhh2	ENSMUSG00000040852
rattus_norvegicus	Plekhh2	ENSRNOG00000005124
drosophila_melanogaster	CG43867	FBGN0264449
caenorhabditis_elegans		WBGENE00003143

Paralogs (1): PLEKHH1 (ENSG00000054690)

Protein

Protein identifiers

Pleckstrin homology domain-containing family H member 2 — Q8IVE3 (reviewed: Q8IVE3)

All UniProt accessions (3): Q8IVE3, E5RGK1, H0YBV1

UniProt curated annotations — full annotation on UniProt →

Function. In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia.

Subunit / interactions. Self-associates. Interacts with TGFB1I1.

Subcellular location. Cytoplasm. Cytoskeleton. Cell membrane. Cell projection. Lamellipodium.

Tissue specificity. Kidney. Reduced expression in patients with focal segmental glomerulosclerosis.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IVE3-1	1	yes
Q8IVE3-2	2
Q8IVE3-3	3

RefSeq proteins (1): NP_742066* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000299	FERM_domain	Domain
IPR000857	MyTH4_dom	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR035963	FERM_2	Homologous_superfamily
IPR038185	MyTH4_dom_sf	Homologous_superfamily

Pfam: PF00169, PF00373, PF00784, PF21989

UniProt features (28 total): compositionally biased region 7, region of interest 5, domain 4, sequence variant 4, splice variant 3, sequence conflict 3, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVE3-F1	67.21	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_ACTIN_FILAMENT_ORGANIZATION, WONG_ENDMETRIUM_CANCER_DN, IRF_Q6, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, GOBP_PROTEIN_DEPOLYMERIZATION, RYTTCCTG_ETS2_B, ELK1_01, GOMF_ACTIN_BINDING, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY

GO Biological Process (1): negative regulation of actin filament depolymerization (GO:0030835)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (11): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear body (GO:0016604), lamellipodium (GO:0030027), cortical actin cytoskeleton (GO:0030864), cytoskeleton (GO:0005856), membrane (GO:0016020), cell projection (GO:0042995), cell periphery (GO:0071944)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
intracellular membraneless organelle	2
actin filament depolymerization	1
regulation of actin filament depolymerization	1
negative regulation of cytoskeleton organization	1
negative regulation of protein depolymerization	1
negative regulation of supramolecular fiber organization	1
cytoskeletal protein binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
nucleoplasm	1
cell leading edge	1
plasma membrane bounded cell projection	1
actin cytoskeleton	1
cortical cytoskeleton	1

Protein interactions and networks

STRING

434 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLEKHH2	SERPINB7	O75635	662
PLEKHH2	ELMO1	Q92556	630
PLEKHH2	NPHS1	O60500	523
PLEKHH2	NEDD4L	Q96PU5	492
PLEKHH2	PON1	P27169	491
PLEKHH2	LRRC17	Q8N6Y2	423
PLEKHH2	TTC8	Q8TAM2	419
PLEKHH2	F5H3C5	F5H3C5	411
PLEKHH2	SOD2	P04179	411
PLEKHH2	ACE	P12821	404
PLEKHH2	EPB41	P11171	398
PLEKHH2	C11orf87	Q6NUJ2	395
PLEKHH2	MBNL1	Q9NR56	393
PLEKHH2	HFE	Q30201	385
PLEKHH2	ISLR	O14498	375

IntAct

133 interactions, top by confidence:

A	B	Type	Score
PLEKHH2	LPXN	psi-mi:“MI:0915”(physical association)	0.800
LPXN	PLEKHH2	psi-mi:“MI:0915”(physical association)	0.800
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
LPXN	PCNT	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
EVL	VASP	psi-mi:“MI:0914”(association)	0.530
PLEKHH2	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
GRID2IP	PLEKHH2	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
SCRIB	PLEKHH2	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI3	PLEKHH2	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	NOS1	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	APBA1	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI1	PLEKHH2	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
PTPN3	PLEKHH2	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	RADIL	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHH2	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (20): PLEKHH2 (Two-hybrid), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Two-hybrid), PLEKHH2 (Proximity Label-MS), PLEKHH2 (Proximity Label-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Proximity Label-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Affinity Capture-MS), PLEKHH2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2AIW0, A2AM05, A2CE83, A6PWD2, E7F5E1, O60296, P27628, P28290, P60853, Q0VF96, Q28GJ0, Q2KJD6, Q2M243, Q2MJV9, Q3V036, Q4KLH6, Q5R9L2, Q5RHB5, Q5SZL2, Q5U2Y9, Q5U3Z6, Q5U4W1, Q6AW69, Q6DIS8, Q6NRK1, Q6NRX3, Q6P2H3, Q6PCQ0, Q6ZQ06, Q70YC5, Q804T6, Q80ST9, Q86VQ0, Q8BMK0, Q8C115, Q8CFC9, Q8CGZ2

Diamond homologs: A1CFB3, A1CYS1, A2QNQ5, A7A179, A7ERM5, A7KAK6, A7KAN4, A7TF84, C4B4E5, I1S8Q3, P0CN90, P0CN91, P64866, P9WN06, P9WN07, Q06321, Q0CKU4, Q0UY53, Q2U0C3, Q4WID6, Q54IL5, Q5A950, Q5B4C9, Q5RC33, Q6BN88, Q6C8M8, Q6CUV2, Q751Z4, Q7S1I0, Q8C115, Q8CI52, Q8IVE3, Q8IYS0, Q8N4B1, Q8NJS1, Q9M8Z7, Q9XIG1, Q9Y751, Q00IB7, Q08001

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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
Ras activation upon Ca2+ influx through NMDA receptor	6	57.1×	6e-08
Unblocking of NMDA receptors, glutamate binding and activation	6	54.4×	6e-08
Negative regulation of NMDA receptor-mediated neuronal transmission	6	54.4×	6e-08
Long-term potentiation	6	47.6×	1e-07
Assembly and cell surface presentation of NMDA receptors	10	42.3×	3e-12
Dopamine Neurotransmitter Release Cycle	5	41.4×	4e-06
Neurexins and neuroligins	11	36.1×	2e-12
Protein-protein interactions at synapses	7	31.0×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	75.2×	5e-16
protein localization to synapse	6	54.1×	2e-07
receptor clustering	7	51.4×	2e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	6	35.0×	2e-06
protein-containing complex assembly	10	13.4×	4e-07
cell-cell adhesion	9	10.8×	1e-05
chemical synaptic transmission	7	6.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	228
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

6115 predictions. Top by Δscore:

Variant	Effect	Δscore
2:43637377:CAGGT:C	donor_loss	1.0000
2:43637378:AGGT:A	donor_loss	1.0000
2:43637379:GGTG:G	donor_loss	1.0000
2:43637380:GT:G	donor_loss	1.0000
2:43644669:A:AG	acceptor_gain	1.0000
2:43644670:G:GG	acceptor_gain	1.0000
2:43644793:GAAG:G	donor_gain	1.0000
2:43644796:GGT:G	donor_loss	1.0000
2:43644797:G:C	donor_loss	1.0000
2:43644798:T:A	donor_loss	1.0000
2:43678854:A:AG	acceptor_gain	1.0000
2:43678855:C:G	acceptor_gain	1.0000
2:43678858:TACA:T	acceptor_loss	1.0000
2:43678860:CA:C	acceptor_loss	1.0000
2:43678861:A:AG	acceptor_gain	1.0000
2:43678862:G:GA	acceptor_gain	1.0000
2:43678862:G:GT	acceptor_loss	1.0000
2:43678922:ACAGG:A	donor_loss	1.0000
2:43678923:CAGG:C	donor_loss	1.0000
2:43678924:AGG:A	donor_loss	1.0000
2:43678925:GGTA:G	donor_loss	1.0000
2:43678926:G:GA	donor_loss	1.0000
2:43678927:T:A	donor_loss	1.0000
2:43692509:TTTA:T	acceptor_loss	1.0000
2:43692512:A:C	acceptor_loss	1.0000
2:43692660:GCAG:G	donor_gain	1.0000
2:43692661:CAGGT:C	donor_loss	1.0000
2:43692662:AG:A	donor_loss	1.0000
2:43692663:GG:G	donor_loss	1.0000
2:43692665:T:G	donor_gain	1.0000

AlphaMissense

9805 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:43700606:T:A	W550R	1.000
2:43700606:T:C	W550R	1.000
2:43700608:G:C	W550C	1.000
2:43700608:G:T	W550C	1.000
2:43710286:T:A	W724R	1.000
2:43710286:T:C	W724R	1.000
2:43712285:T:A	W788R	1.000
2:43712285:T:C	W788R	1.000
2:43644744:T:C	L24P	0.999
2:43678873:T:C	L45P	0.999
2:43704003:C:A	A558D	0.999
2:43710245:T:C	L710S	0.999
2:43710290:T:C	F725S	0.999
2:43710296:T:C	L727P	0.999
2:43710319:T:G	Y735D	0.999
2:43712253:T:C	L777P	0.999
2:43712287:G:C	W788C	0.999
2:43712287:G:T	W788C	0.999
2:43726426:T:C	L899P	0.999
2:43729643:T:A	W910R	0.999
2:43729643:T:C	W910R	0.999
2:43729656:T:C	L914P	0.999
2:43731585:G:C	A976P	0.999
2:43738351:T:C	L985P	0.999
2:43738405:C:A	A1003D	0.999
2:43738444:T:C	L1016P	0.999
2:43738468:T:C	L1024P	0.999
2:43742810:A:C	R1097S	0.999
2:43742810:A:T	R1097S	0.999
2:43742893:T:A	V1125E	0.999

dbSNP variants (sampled 300 via entrez): RS1000030662 (2:43708685 C>G,T), RS1000035200 (2:43756774 C>T), RS1000071828 (2:43694229 G>C,T), RS1000077547 (2:43756745 C>G,T), RS1000091589 (2:43751902 C>T), RS1000097665 (2:43643265 A>G), RS1000104895 (2:43642022 C>T), RS1000138568 (2:43680812 A>G), RS1000156699 (2:43766519 C>A), RS1000162394 (2:43702729 T>A), RS1000182742 (2:43751111 T>C), RS1000184363 (2:43737477 G>C), RS1000194346 (2:43668713 C>G), RS1000213086 (2:43746281 A>G), RS1000230376 (2:43762382 A>G)

Disease associations

OMIM: gene MIM:612723 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST003797_1	Diabetes in response to antihypertensive drug treatment (treatment strategy interaction)	5.000000e-08
GCST003797_2	Diabetes in response to antihypertensive drug treatment (treatment strategy interaction)	2.000000e-07
GCST005196_201	Coronary artery disease	2.000000e-07
GCST010697_19	Cortical surface area (min-P)	1.000000e-08
GCST010698_2	Subcortical volume (min-P)	4.000000e-08
GCST010699_4	Brain morphology (min-P)	4.000000e-11
GCST010700_31	Cortical thickness (MOSTest)	1.000000e-08
GCST010701_6	Cortical surface area (MOSTest)	2.000000e-08
GCST010702_67	Subcortical volume (MOSTest)	2.000000e-11
GCST010703_205	Brain morphology (MOSTest)	1.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005405	response to antihypertensive drug
EFO:0007766	response to beta blocker
EFO:0007767	response to calcium channel blocker
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs11124945	Toxicity	3	atenolol;verapamil	Diabetes Mellitus;Hypertension

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11124945	PLEKHH2	3	0.00	1	atenolol;verapamil

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
trichostatin A	affects expression, increases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
Acetaminophen	increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Silicon Dioxide	decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
nickel sulfate	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
entinostat	increases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dimethylarsinous acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
bisphenol S	affects cotreatment, increases methylation	1
jinfukang	decreases expression	1
incobotulinumtoxinA	increases expression	1
Dasatinib	increases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	increases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1

Clinical trials (associated diseases)

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