PCDH7

Summary

PCDH7 (protocadherin 7, HGNC:8659) is a protein-coding gene on chromosome 4p15.1, encoding Protocadherin-7 (O60245).

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails.

Source: NCBI Gene 5099 — RefSeq curated summary.

At a glance

• GWAS associations: 40
• Clinical variants (ClinVar): 152 total — 1 likely-pathogenic
• MANE Select transcript: NM_001173523

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8659
Approved symbol	PCDH7
Name	protocadherin 7
Location	4p15.1
Locus type	gene with protein product
Status	Approved
Aliases	BH-Pcdh, PPP1R120
Ensembl gene	ENSG00000169851
Ensembl biotype	protein_coding
OMIM	602988
Entrez	5099

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000361762, ENST00000507864, ENST00000509759, ENST00000509925, ENST00000511884, ENST00000543491, ENST00000610830, ENST00000621961, ENST00000695919, ENST00000695920, ENST00000695921, ENST00000695922, ENST00000695923, ENST00000946629

RefSeq mRNA: 3 — MANE Select: NM_001173523 NM_001173523, NM_002589, NM_032457

CCDS: CCDS33971, CCDS93490

Canonical transcript exons

ENST00000695919 — 3 exons

Exon	Start	End
ENSE00002087104	31142473	31146800
ENSE00003736985	30720369	30724596
ENSE00003965471	30920153	30920369

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 98.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1303 / max 425.1387, expressed in 1193 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47247	12.6251	1167
47246	0.8814	385
47251	0.2805	115
47249	0.2092	107
47248	0.1341	67

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.85	gold quality
middle temporal gyrus	UBERON:0002771	98.44	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.32	gold quality
urethra	UBERON:0000057	97.34	gold quality
saphenous vein	UBERON:0007318	97.13	gold quality
corpus epididymis	UBERON:0004359	96.98	gold quality
seminal vesicle	UBERON:0000998	96.95	gold quality
pons	UBERON:0000988	96.89	gold quality
entorhinal cortex	UBERON:0002728	96.60	gold quality
postcentral gyrus	UBERON:0002581	96.48	gold quality
substantia nigra pars compacta	UBERON:0001965	96.33	gold quality
parietal lobe	UBERON:0001872	96.26	gold quality
superior frontal gyrus	UBERON:0002661	95.84	gold quality
heart right ventricle	UBERON:0002080	95.32	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.85	gold quality
cauda epididymis	UBERON:0004360	94.82	gold quality
primary visual cortex	UBERON:0002436	94.61	gold quality
descending thoracic aorta	UBERON:0002345	94.44	gold quality
occipital lobe	UBERON:0002021	94.30	gold quality
vena cava	UBERON:0004087	94.28	gold quality
thoracic aorta	UBERON:0001515	93.96	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.85	gold quality
ascending aorta	UBERON:0001496	93.78	gold quality
lateral globus pallidus	UBERON:0002476	93.51	gold quality
superior vestibular nucleus	UBERON:0007227	92.08	gold quality
bronchial epithelial cell	CL:0002328	92.01	gold quality
mucosa of stomach	UBERON:0001199	91.41	gold quality
trigeminal ganglion	UBERON:0001675	91.34	gold quality
stromal cell of endometrium	CL:0002255	91.29	gold quality
blood vessel layer	UBERON:0004797	90.79	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	44.79
E-HCAD-35	yes	33.66
E-HCAD-25	yes	15.26
E-ANND-3	yes	11.67
E-HCAD-11	yes	7.39
E-MTAB-7303	no	454.60
E-MTAB-6108	no	228.12
E-MTAB-8205	no	224.29

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MECP2

miRNA regulators (miRDB)

286 targeting PCDH7, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-126-5P	100.00	72.71	3180
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616

Literature-anchored findings (GeneRIF, showing 10)

• Methylation of polycomb groups target genes is an early event in urothelial carcinogenesis in young patients. (PMID:23369722)
• PCDH7 is up-regulation in bone metastatic breast cancer tissues. (PMID:23751349)
• Two SNPs rs13146789 and rs13109270 of PCDH7 showed strong association with musical aptitude and inner ear development and neurocognitive functions. (PMID:24614497)
• Pcdh7 plays a key role in osteoclastogenesis by promoting cell-cell fusion (PMID:25446128)
• The findings indicate that low PCDH7 expression is a potential prognostic biomarker for primary non-muscle invasive bladder cancer (PMID:27070091)
• we report that the PROTOCADHERIN PCDH7 is overexpressed frequently in Non-small cell lung cancer tumors where this event is associated with poor clinical outcome (PMID:27821484)
• protocadherin 7 may play important roles in the invasion and metastasis of gastric cancer. (PMID:28381163)
• Authors demonstrated that enforced PCDH7 expression significantly accelerates Kras(G12D) -driven lung tumorigenesis and potentiates MAPK pathway activation. (PMID:30409919)
• Effect of aberrantly methylated androgen receptor target gene PCDH7 on the development of androgen-independent prostate cancer cells. (PMID:31872382)
• PCDH7 knockdown potentiates colon cancer cells to chemotherapy via inducing ferroptosis and changes in autophagy through restraining MEK1/2/ERK/c-Fos axis. (PMID:35926236)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pcdh7b	ENSDARG00000060610
mus_musculus	Pcdh7	ENSMUSG00000029108
rattus_norvegicus	Pcdh7	ENSRNOG00000063828

Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)

Protein

Protein identifiers

Protocadherin-7 — O60245 (reviewed: O60245)

Alternative names: Brain-heart protocadherin

All UniProt accessions (8): O60245, A0A087X0C9, A0A087X2C4, A0A8Q3SI47, A0A8Q3SI70, A0A8Q3SI92, A0A8Q3SIA5, A0A8V8TM73

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

Tissue specificity. Expressed predominantly in brain and heart and at lower levels in various other tissues.

Isoforms (2)

UniProt ID	Names	Canonical?
O60245-1	A, BH-Pcdh-a	yes
O60245-2	B, BH-Pcdh-b

RefSeq proteins (3): NP_001166994, NP_002580, NP_115833 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR013164	Cadherin_N	Domain
IPR013585	Protocadherin	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR050174	Protocadherin/Cadherin-CA	Family

Pfam: PF00028, PF08266, PF08374

UniProt features (40 total): domain 7, glycosylation site 7, strand 7, sequence conflict 3, turn 3, region of interest 2, compositionally biased region 2, modified residue 2, topological domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2YST	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60245-F1	76.38	0.46

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): 989, 1011

Glycosylation sites (7): 79, 689, 747, 780, 822, 840, 845

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle

MSigDB gene sets: 373 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, LI_CISPLATIN_RESISTANCE_DN, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, BROWNE_HCMV_INFECTION_4HR_UP, E2F_Q4_01, RRAGTTGT_UNKNOWN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, PAL_PRMT5_TARGETS_UP, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOZGIT_ESR1_TARGETS_DN, AREB6_01, TGACCTY_ERR1_Q2, CHANDRAN_METASTASIS_DN

GO Biological Process (2): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156)

GO Molecular Function (2): calcium ion binding (GO:0005509), cell adhesion molecule binding (GO:0050839)

GO Cellular Component (4): plasma membrane (GO:0005886), platelet alpha granule membrane (GO:0031092), glutamatergic synapse (GO:0098978), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	2
Response to elevated platelet cytosolic Ca2+	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
cell-cell adhesion	1
metal ion binding	1
protein binding	1
membrane	1
cell periphery	1
secretory granule membrane	1
platelet alpha granule	1
synapse	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1298 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PCDH7	GJA1	P17302	921
PCDH7	PPP1CA	P08129	837
PCDH7	GTPBP2	Q9BX10	827
PCDH7	GTPBP1	O00178	825
PCDH7	CCKAR	P32238	787
PCDH7	STIM2	Q9P246	700
PCDH7	TAF1	P21675	588
PCDH7	ISLR	O14498	564
PCDH7	CTNNB1	P35222	494
PCDH7	THSD7A	Q9UPZ6	477
PCDH7	CTNNA1	P35221	473
PCDH7	HOXB2	P10913	468
PCDH7	UGT8	Q16880	464
PCDH7	PCDH12	Q9NPG4	463
PCDH7	GALM	Q96C23	461

IntAct

74 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
RAF1	EEF1E1	psi-mi:“MI:0914”(association)	0.530
RYK	PCDH7	psi-mi:“MI:0914”(association)	0.530
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
FLRT1	TCAF2	psi-mi:“MI:0914”(association)	0.530
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
XAGE1A	THAP12	psi-mi:“MI:0914”(association)	0.530
HUS1B	ZBTB14	psi-mi:“MI:0914”(association)	0.530
PIP	TBKBP1	psi-mi:“MI:0914”(association)	0.530
SPSB2	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
SPSB4	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
MET	NDUFA4	psi-mi:“MI:0914”(association)	0.420
MET	NDUFA4	psi-mi:“MI:2364”(proximity)	0.420
TACC3	DHRS2	psi-mi:“MI:0914”(association)	0.350
Rab5c		psi-mi:“MI:0914”(association)	0.350
XRCC5	BACC1	psi-mi:“MI:0914”(association)	0.350
PCDH7	RNF113A	psi-mi:“MI:0914”(association)	0.350
GOLT1B		psi-mi:“MI:0914”(association)	0.350
SP7	PPP6C	psi-mi:“MI:0914”(association)	0.350
SP1	PPP6C	psi-mi:“MI:0914”(association)	0.350
DDR2	PLD2	psi-mi:“MI:0914”(association)	0.350
FGFR1	NDUFA4	psi-mi:“MI:0914”(association)	0.350
FGFR4	NDUFA4	psi-mi:“MI:0914”(association)	0.350

BioGRID (332): PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Proximity Label-MS), CAPZA1 (Affinity Capture-MS), CAPZA2 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PCDH7 (Affinity Capture-MS), PSMD5 (Affinity Capture-MS)

ESM2 similar proteins: D3ZB51, E9PZ19, M0RAS4, O60242, O60245, O70472, O75882, O94779, P13590, P13591, P13595, P13596, P15209, P24786, P31836, P51641, P68500, P78539, P97300, P97527, P97546, Q01973, Q03351, Q15223, Q16288, Q16620, Q5IFJ9, Q5IS37, Q5IS82, Q63604, Q63769, Q6A051, Q6AZB0, Q6GQT9, Q6P1D5, Q6VNS1, Q7TNR6, Q80T74, Q80ZF8, Q8R4I7

Diamond homologs: A7MB46, D3ZE55, D4ACX8, E9PVD3, F8W3X3, O14917, O35161, O55134, O60245, O60330, O88278, O95206, P58365, Q08174, Q24292, Q2PZL6, Q5DRA2, Q5DRA3, Q5DRA4, Q5DRA5, Q5DRA6, Q5DRA7, Q5DRA8, Q5DRA9, Q5DRB1, Q5DRB2, Q5DRB3, Q5DRB4, Q5DRB5, Q5DRB6, Q5DRB7, Q5DRB8, Q5DRB9, Q5DRC0, Q5DRC1, Q5DRC2, Q5DRC6, Q5DRC8, Q5DRC9, Q5DRD0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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
RAF/MAP kinase cascade	7	8.1×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
MAPK cascade	6	11.9×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	135
Likely benign	4
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
980664	GRCh37/hg19 4p15.1(chr4:28607146-32017466)x1	Likely pathogenic

SpliceAI

348 predictions. Top by Δscore:

Variant	Effect	Δscore
4:30727457:AG:A	donor_gain	0.9800
4:30730751:A:AG	acceptor_gain	0.9800
4:30730752:G:GG	acceptor_gain	0.9800
4:30730752:GATGC:G	acceptor_gain	0.9800
4:30730747:TTTCA:T	acceptor_loss	0.9700
4:30730748:TTCAG:T	acceptor_loss	0.9700
4:30730749:TCA:T	acceptor_loss	0.9700
4:30730750:CAGAT:C	acceptor_loss	0.9700
4:30730752:G:GC	acceptor_loss	0.9700
4:30730752:GAT:G	acceptor_gain	0.9700
4:30727456:TA:T	donor_gain	0.9600
4:30724593:ACAGG:A	donor_loss	0.9500
4:30724594:CAGGT:C	donor_loss	0.9500
4:30724595:AGGT:A	donor_loss	0.9500
4:30724597:G:A	donor_loss	0.9500
4:30724598:T:A	donor_loss	0.9500
4:30727622:GAT:G	donor_gain	0.9000
4:30727624:T:TG	donor_gain	0.9000
4:30727624:T:G	donor_gain	0.8800
4:30727620:GAGAT:G	donor_gain	0.8700
4:30724597:G:GG	donor_gain	0.8400
4:30727512:T:TA	donor_gain	0.8000
4:30727513:A:AA	donor_gain	0.8000
4:30720828:G:GT	donor_gain	0.7800
4:30730752:GA:G	acceptor_gain	0.7800
4:30727570:C:G	donor_gain	0.7500
4:30730751:AGAT:A	acceptor_gain	0.7300
4:30730752:GATG:G	acceptor_gain	0.7300
4:30727454:G:GA	donor_gain	0.6800
4:30720883:G:GG	donor_gain	0.6600

AlphaMissense

8255 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:30721619:T:C	F66S	1.000
4:30721844:C:A	P141H	1.000
4:30721850:T:G	F143C	1.000
4:30721871:T:C	L150P	1.000
4:30721883:A:T	E154V	1.000
4:30722153:T:C	F244S	1.000
4:30722153:T:G	F244C	1.000
4:30722201:T:A	L260Q	1.000
4:30722201:T:C	L260P	1.000
4:30722225:G:C	R268P	1.000
4:30722228:A:T	E269V	1.000
4:30722249:T:C	L276P	1.000
4:30722255:T:C	L278P	1.000
4:30722303:T:C	L294P	1.000
4:30722309:T:A	V296D	1.000
4:30722320:G:C	D300H	1.000
4:30722321:A:T	D300V	1.000
4:30722327:A:T	N302I	1.000
4:30722328:C:A	N302K	1.000
4:30722328:C:G	N302K	1.000
4:30722329:G:C	D303H	1.000
4:30722329:G:T	D303Y	1.000
4:30722330:A:C	D303A	1.000
4:30722330:A:T	D303V	1.000
4:30722339:C:A	P306H	1.000
4:30722339:C:G	P306R	1.000
4:30722345:T:C	F308S	1.000
4:30722428:G:C	D336H	1.000
4:30722429:A:T	D336V	1.000
4:30722495:T:C	L358P	1.000

dbSNP variants (sampled 300 via entrez): RS1000003254 (4:30894213 A>G), RS1000017263 (4:30964168 T>C), RS1000026359 (4:30796124 T>A), RS1000028860 (4:30756868 G>A), RS1000035567 (4:30967254 G>A,T), RS10000401 (4:30934241 G>C), RS1000049008 (4:31027505 C>T), RS1000050315 (4:30804753 A>C), RS10000603 (4:30877012 A>G), RS1000073573 (4:31048874 A>G), RS1000074199 (4:31042407 A>G), RS1000094261 (4:30973591 G>T), RS1000095972 (4:31004019 TGA>T), RS1000106060 (4:31037524 G>T), RS1000108482 (4:30888249 A>G)

Disease associations

OMIM: gene MIM:602988 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

40 associations (top):

Study	Trait	p-value
GCST001289_1	Lipid traits	5.000000e-09
GCST001762_581	Obesity-related traits	6.000000e-06
GCST002541_8	Menarche (age at onset)	2.000000e-11
GCST002547_2	Epilepsy	5.000000e-09
GCST002547_7	Epilepsy	2.000000e-07
GCST002569_2	Underweight status	3.000000e-07
GCST002685_8	Refractive astigmatism	1.000000e-06
GCST002688_11	Very long-chain saturated fatty acid levels (fatty acid 22:0)	5.000000e-06
GCST002709_23	Electroencephalogram traits	3.000000e-06
GCST003124_17	Mild influenza (H1N1) infection	1.000000e-09
GCST003124_20	Mild influenza (H1N1) infection	2.000000e-08
GCST003124_7	Mild influenza (H1N1) infection	3.000000e-10
GCST003125_1	Influenza A (H1N1) infection	5.000000e-09
GCST003245_4	White matter hyperintensities in ischemic stroke	1.000000e-06
GCST006190_15	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	9.000000e-07
GCST006190_63	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-08
GCST006191_1	Diastolic blood pressure x smoking status (ever vs never) interaction (1df test)	3.000000e-06
GCST006292_3	Response to antipsychotic treatment in schizophrenia	3.000000e-09
GCST006292_6	Response to antipsychotic treatment in schizophrenia	7.000000e-08
GCST006296_8	Response to ziprazidone in schizophrenia	8.000000e-07
GCST006512_1	Mouth morphology (principal component model)	1.000000e-09
GCST007324_10	Adventurousness	1.000000e-09
GCST007324_106	Adventurousness	1.000000e-08
GCST007325_103	General risk tolerance (MTAG)	2.000000e-10
GCST007325_199	General risk tolerance (MTAG)	2.000000e-08
GCST007325_301	General risk tolerance (MTAG)	1.000000e-15
GCST007326_4	Number of sexual partners	2.000000e-08
GCST007326_96	Number of sexual partners	3.000000e-12
GCST007327_3	Smoking status (ever vs never smokers)	3.000000e-10
GCST007353_5	Generalized epilepsy	2.000000e-09

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0003939	energy intake
EFO:0004703	age at menarche
EFO:0005936	underweight body mass index status
EFO:0006796	very long-chain saturated fatty acid measurement
EFO:0004357	electroencephalogram measurement
EFO:0006872	delta wave measurement
EFO:1001488	influenza A (H1N1)
EFO:0005665	white matter hyperintensity measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:1001870	late-onset Alzheimers disease
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0008039	BMI-adjusted hip circumference
EFO:0007006	depressive symptom measurement
EFO:0004784	self reported educational attainment
EFO:0006340	mean arterial pressure
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	8
Estradiol	decreases expression, increases expression, affects cotreatment	4
trichostatin A	increases expression, decreases expression, affects cotreatment	3
sodium arsenite	increases expression, affects expression	3
methylmercuric chloride	decreases expression, increases expression	2
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Nickel	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	increases methylation, affects expression	2
Cadmium Chloride	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
testosterone undecanoate	affects cotreatment, decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	increases expression	1
manganese chloride	increases expression	1
aflatoxin B2	decreases methylation	1
cupric chloride	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide	increases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TC45	HAP1 PCDH7 (-) 1	Cancer cell line	Male
CVCL_TC46	HAP1 PCDH7 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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