DCHS2

Summary

DCHS2 (dachsous cadherin-related 2, HGNC:23111) is a protein-coding gene on chromosome 4q31.3, encoding Protocadherin-23 (Q6V1P9). Calcium-dependent cell-adhesion protein.

This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer’s disease, compressive strength index, and appendicular lean mass.

Source: NCBI Gene 54798 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 297 total — 1 pathogenic
• MANE Select transcript: NM_001358235

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23111
Approved symbol	DCHS2
Name	dachsous cadherin-related 2
Location	4q31.3
Locus type	gene with protein product
Status	Approved
Aliases	CDHJ, FLJ20047, PCDHJ, CDHR7
Ensembl gene	ENSG00000197410
Ensembl biotype	protein_coding
OMIM	612486
Entrez	54798

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding_CDS_not_defined, 2 protein_coding, 1 retained_intron

ENST00000339452, ENST00000357232, ENST00000456341, ENST00000504580, ENST00000507542, ENST00000623568, ENST00000623607, ENST00000624983

RefSeq mRNA: 3 — MANE Select: NM_001358235 NM_001142552, NM_001358235, NM_001412223

CCDS: CCDS47150, CCDS87275

Canonical transcript exons

ENST00000357232 — 20 exons

Exon	Start	End
ENSE00000970453	154239170	154239302
ENSE00001364941	154332478	154333494
ENSE00001370106	154328093	154328192
ENSE00001378393	154377253	154377444
ENSE00001383832	154329523	154329710
ENSE00001389441	154366210	154366441
ENSE00001401065	154242642	154242772
ENSE00001402820	154255519	154255670
ENSE00001405707	154240537	154240823
ENSE00001405807	154322331	154322488
ENSE00001407648	154320379	154321222
ENSE00001414301	154315748	154315987
ENSE00001415833	154297851	154298708
ENSE00001417101	154305097	154305231
ENSE00001418405	154304669	154304878
ENSE00001424771	154259545	154259756
ENSE00001430001	154269900	154270013
ENSE00003526721	154334868	154335104
ENSE00003759612	154231742	154237159
ENSE00003828772	154489304	154491799

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 68.88.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3511 / max 43.0608, expressed in 165 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54448	0.3511	165

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	68.88	gold quality
calcaneal tendon	UBERON:0003701	68.79	gold quality
superior frontal gyrus	UBERON:0002661	67.84	gold quality
nucleus accumbens	UBERON:0001882	65.97	gold quality
frontal cortex	UBERON:0001870	65.35	gold quality
smooth muscle tissue	UBERON:0001135	64.72	gold quality
muscle layer of sigmoid colon	UBERON:0035805	64.35	gold quality
sural nerve	UBERON:0015488	63.92	gold quality
body of uterus	UBERON:0009853	63.11	gold quality
myometrium	UBERON:0001296	63.02	gold quality
caudate nucleus	UBERON:0001873	63.01	gold quality
anterior cingulate cortex	UBERON:0009835	62.87	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	62.55	gold quality
cerebral cortex	UBERON:0000956	62.28	gold quality
Brodmann (1909) area 9	UBERON:0013540	62.09	gold quality
cortical plate	UBERON:0005343	61.09	gold quality
fundus of stomach	UBERON:0001160	60.98	gold quality
ganglionic eminence	UBERON:0004023	60.44	gold quality
corpus callosum	UBERON:0002336	60.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.96	gold quality
colonic epithelium	UBERON:0000397	59.94	silver quality
primary visual cortex	UBERON:0002436	59.87	gold quality
right frontal lobe	UBERON:0002810	59.87	gold quality
urinary bladder	UBERON:0001255	58.96	gold quality
stomach	UBERON:0000945	58.82	gold quality
endocervix	UBERON:0000458	58.06	gold quality
colon	UBERON:0001155	57.57	gold quality
brain	UBERON:0000955	57.19	gold quality
rectum	UBERON:0001052	56.92	gold quality
body of stomach	UBERON:0001161	56.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting DCHS2, 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-6873-3P	100.00	71.42	2626
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-5689	99.50	71.26	1154

Literature-anchored findings (GeneRIF, showing 4)

• DCHS2 gene is expressed in the cerebral cortex and thus is a potential candidate for affecting Age of onset in AD. (PMID:22005931)
• Findings suggest that the 3 genes, FADS1, FADS2, and DCHS2, containing these SNPs might play dual roles influencing both CSI and ALM in males. (PMID:22960237)
• We found significant differences between the genotype frequency of DCHS2 between controls and amnestic mild cognitive impairment but not between controls and Alzheimers disease. (PMID:26876984)
• Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development. (PMID:33108146)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dchs2	ENSMUSG00000102692
rattus_norvegicus	Dchs2	ENSRNOG00000047473

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), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), PCDH20 (ENSG00000280165)

Protein

Protein identifiers

Protocadherin-23 — Q6V1P9 (reviewed: Q6V1P9)

Alternative names: Cadherin-27, Cadherin-like protein CDHJ, Cadherin-like protein VR8, Protein dachsous homolog 2, Protocadherin PCDHJ

All UniProt accessions (2): A0A0A0MRC0, Q6V1P9

UniProt curated annotations — full annotation on UniProt →

Function. Calcium-dependent cell-adhesion protein.

Subcellular location. Membrane.

Tissue specificity. Cerebral cortex and testis.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6V1P9-1	1	yes
Q6V1P9-5	2

RefSeq proteins (3): NP_001136024, NP_001345164, NP_001399152 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site

Pfam: PF00028

UniProt features (73 total): domain 27, glycosylation site 23, sequence conflict 12, topological domain 3, transmembrane region 2, region of interest 2, splice variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q6V1P9 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Glycosylation sites (23): 669, 772, 814, 905, 966, 1038, 1172, 1275, 1487, 1595, 1617, 1664, 1898, 2054, 2070, 2098, 2329, 2479, 2497, 2555 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 83 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GCANCTGNY_MYOD_Q6, AREB6_01, GOBP_NEUROGENESIS, GGGTGGRR_PAX4_03, GOBP_CELL_CELL_ADHESION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_HEART_MORPHOGENESIS, GRE_C, HAND1E47_01, GOBP_MESENCHYMAL_CELL_PROLIFERATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CELL_CELL_JUNCTION

GO Biological Process (13): heart morphogenesis (GO:0003007), homophilic cell-cell adhesion (GO:0007156), establishment or maintenance of cell polarity (GO:0007163), axonogenesis (GO:0007409), epithelial cell differentiation (GO:0030855), cell-cell adhesion mediated by cadherin (GO:0044331), tissue morphogenesis (GO:0048729), nephron development (GO:0072006), condensed mesenchymal cell proliferation (GO:0072137), cell adhesion (GO:0007155), cell differentiation (GO:0030154), epithelium development (GO:0060429), cell-cell adhesion (GO:0098609)

GO Molecular Function (1): calcium ion binding (GO:0005509)

GO Cellular Component (3): plasma membrane (GO:0005886), adherens junction (GO:0005912), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	2
cellular process	2
tissue development	2
heart development	1
animal organ morphogenesis	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
cell differentiation	1
epithelium development	1
anatomical structure morphogenesis	1
kidney development	1
anatomical structure development	1
mesenchymal cell proliferation	1
cellular developmental process	1
cell adhesion	1
metal ion binding	1
membrane	1
cell periphery	1
cell-cell junction	1
cellular anatomical structure	1

Protein interactions and networks

STRING

726 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCHS2	SMIM23	A6NLE4	646
DCHS2	FJX1	Q86VR8	532
DCHS2	CFAP91	Q7Z4T9	497
DCHS2	SUPT3H	O75486	477
DCHS2	PAX1	P15863	476
DCHS2	EDAR	Q9UNE0	432
DCHS2	DRC4	O95995	417
DCHS2	ZNF669	Q96BR6	412
DCHS2	MYO3A	Q8NEV4	408
DCHS2	TMEM51	Q9NW97	395
DCHS2	DHX35	Q9H5Z1	378
DCHS2	PAX3	P23760	367
DCHS2	IQCJ-SCHIP1	B3KU38	366
DCHS2	F8WDG0	F8WDG0	366
DCHS2	FREM1	Q5H8C1	360

IntAct

153 interactions, top by confidence:

A	B	Type	Score
DKKL1	DENND11	psi-mi:“MI:0914”(association)	0.640
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
SCGB1D1	MANBA	psi-mi:“MI:0914”(association)	0.640
CMA1	MANBA	psi-mi:“MI:0914”(association)	0.530
CTSG	MANBA	psi-mi:“MI:0914”(association)	0.530
GPIHBP1	ADAM10	psi-mi:“MI:0914”(association)	0.530
PIGT	ZNF609	psi-mi:“MI:0914”(association)	0.530
PARD3	DCHS2	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	MPP7	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	PALS2	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	LNX1	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
HTRA4	DCHS2	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	PTPN13	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
PTPN3	DCHS2	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	FRMPD2	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	PDLIM1	psi-mi:“MI:0407”(direct interaction)	0.440
DCHS2	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (3): DCHS2 (Two-hybrid), DCHS2 (Affinity Capture-MS), DCHS2 (Affinity Capture-MS)

ESM2 similar proteins: D4ACX8, E9PVD3, O35161, O60500, P33146, P55291, Q2PZL6, Q5DRA2, Q5DRA3, Q5DRA4, Q5DRC3, Q5DRC4, Q5DRC6, Q5DRC7, Q5DRC8, Q5DRC9, Q5DRD1, Q5DRD2, Q5DRD3, Q5DRD6, Q5DRD9, Q5DRF1, Q5SZK8, Q6PFX6, Q6V0I7, Q6V1P9, Q86UP0, Q91XZ2, Q91XZ4, Q96JQ0, Q96MS0, Q96TA0, Q9HCU4, Q9NRJ7, Q9NYQ6, Q9QYP2, Q9R0M0, Q9UN66, Q9UN67, Q9UN70

Diamond homologs: A0A8M2BIB6, B0KW95, B2KI42, B4USZ0, F1PAA9, H2EQR6, O18926, O35902, O55075, O55111, O88277, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P30944, P32926, P33145, P33146, P33147, P33148, P33150, P33152, P33545, P39038, P55283, P55290, P55291, P55292, P55849, P55850, P79883

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 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	5	35.7×	2e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	34.0×	2e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	34.0×	2e-05
Long-term potentiation	5	29.7×	3e-05
Assembly and cell surface presentation of NMDA receptors	9	28.6×	3e-09
Neurexins and neuroligins	10	24.6×	2e-09
Protein-protein interactions at synapses	6	19.9×	3e-05
RHOB GTPase cycle	6	11.6×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	49.7×	2e-12
receptor clustering	8	42.7×	3e-09
protein localization to synapse	6	39.3×	1e-06
regulation of postsynaptic membrane neurotransmitter receptor levels	7	29.6×	7e-07
protein-containing complex assembly	10	9.7×	1e-05
cell-cell adhesion	10	8.7×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	149
Likely benign	39
Benign	78

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	Pathogenic

SpliceAI

3637 predictions. Top by Δscore:

Variant	Effect	Δscore
4:154239164:ACTC:A	donor_loss	1.0000
4:154239165:CTCA:C	donor_loss	1.0000
4:154239166:TCACC:T	donor_loss	1.0000
4:154239167:CAC:C	donor_loss	1.0000
4:154239168:ACCAT:A	donor_loss	1.0000
4:154239169:C:CA	donor_loss	1.0000
4:154239169:CCATT:C	donor_gain	1.0000
4:154239301:ACC:A	acceptor_loss	1.0000
4:154239303:CTG:C	acceptor_loss	1.0000
4:154242773:C:CC	acceptor_gain	1.0000
4:154242778:T:C	acceptor_gain	1.0000
4:154242778:T:TC	acceptor_gain	1.0000
4:154269899:CCTGA:C	donor_gain	1.0000
4:154304879:C:CC	acceptor_gain	1.0000
4:154305091:CCTTA:C	donor_loss	1.0000
4:154305093:TTA:T	donor_loss	1.0000
4:154305094:TA:T	donor_loss	1.0000
4:154305095:A:AC	donor_gain	1.0000
4:154305095:A:AG	donor_loss	1.0000
4:154305096:C:CA	donor_loss	1.0000
4:154305096:C:CC	donor_gain	1.0000
4:154305096:CCT:C	donor_gain	1.0000
4:154305227:GACTC:G	acceptor_gain	1.0000
4:154305229:CTC:C	acceptor_gain	1.0000
4:154305231:CC:C	acceptor_loss	1.0000
4:154305231:CCT:C	acceptor_gain	1.0000
4:154305232:C:CC	acceptor_gain	1.0000
4:154305232:C:CG	acceptor_loss	1.0000
4:154305233:T:C	acceptor_gain	1.0000
4:154305233:T:TC	acceptor_gain	1.0000

AlphaMissense

22116 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:154490982:A:T	I125N	0.997
4:154491009:A:G	F116S	0.996
4:154490892:A:G	I155T	0.995
4:154490928:G:T	A143D	0.995
4:154366416:A:T	V757D	0.994
4:154490982:A:G	I125T	0.994
4:154490934:A:G	F141S	0.993
4:154490982:A:C	I125S	0.993
4:154489452:G:T	A635D	0.992
4:154235773:G:T	A2960D	0.991
4:154490486:G:C	N290K	0.991
4:154490486:G:T	N290K	0.991
4:154490934:A:C	F141C	0.991
4:154235854:C:A	G2933V	0.990
4:154322383:G:T	A1375D	0.990
4:154490487:T:A	N290I	0.990
4:154490892:A:C	I155S	0.990
4:154490933:G:C	F141L	0.990
4:154490933:G:T	F141L	0.990
4:154490935:A:G	F141L	0.990
4:154491053:G:C	F101L	0.990
4:154491053:G:T	F101L	0.990
4:154491055:A:G	F101L	0.990
4:154491132:T:A	E75V	0.990
4:154236013:A:G	F2880S	0.989
4:154489740:A:G	F539S	0.989
4:154490468:A:C	F296L	0.989
4:154490468:A:T	F296L	0.989
4:154490470:A:G	F296L	0.989
4:154490988:C:A	G123V	0.989

dbSNP variants (sampled 300 via entrez): RS1000005798 (4:154457186 G>T), RS1000009874 (4:154417253 C>A,G), RS1000023153 (4:154285393 C>T), RS1000028533 (4:154376228 T>C), RS10000511 (4:154430839 T>A,C), RS1000058069 (4:154456839 G>A), RS1000064951 (4:154376508 G>A,C), RS1000069023 (4:154370688 T>A,C), RS1000092668 (4:154335910 C>G,T), RS1000101162 (4:154284061 T>A,C), RS10001032 (4:154288812 G>A,C,T), RS1000134300 (4:154279784 T>C), RS1000136779 (4:154424371 T>C,G), RS1000142675 (4:154257093 C>G), RS1000169251 (4:154364949 G>C)

Disease associations

OMIM: gene MIM:612486 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000730_7	Bilirubin levels	6.000000e-11
GCST001158_5	Fibrinogen	2.000000e-12
GCST001280_3	Alzheimer’s disease (age of onset)	5.000000e-07
GCST001533_5	Immune reponse to smallpox (secreted IL-1beta)	3.000000e-07
GCST001762_517	Obesity-related traits	9.000000e-06
GCST003635_2	middle facial morphology traits (quantitative measurement)	3.000000e-09
GCST003635_3	middle facial morphology traits (quantitative measurement)	1.000000e-08
GCST003635_4	middle facial morphology traits (quantitative measurement)	2.000000e-08
GCST003637_1	facial morphology traits (multivariate analysis)	2.000000e-07
GCST004125_2	Type 2 diabetes (age of onset)	4.000000e-06
GCST006110_18	Nose morphology	5.000000e-06
GCST006110_6	Nose morphology	7.000000e-06
GCST006976_72	Macular thickness	8.000000e-10
GCST007989_8	Facial morphology traits (63 three-dimensional facial segments)	4.000000e-18
GCST008365_2	Thyrotoxic hypokalemic periodic paralysis and Graves disease	1.000000e-08
GCST010796_5189	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST012060_1	Nose morphology	2.000000e-17
GCST012295_15	Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction	1.000000e-05
GCST012300_5	Schizophrenia, bipolar disorder or major depressive disorder	6.000000e-06

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004570	bilirubin measurement
EFO:0004847	age at onset
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0004578	homocysteine measurement
EFO:0004327	electrocardiography
EFO:0004952	disease recurrence
EFO:0008343	sex interaction measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

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
bisphenol A	decreases expression, increases expression, affects cotreatment, increases methylation	3
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	decreases expression	1
methyleugenol	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
1-hydroxypyrene	decreases methylation, affects cotreatment	1
pinosylvin	increases expression	1
CGP 52608	affects binding, increases reaction	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Folic Acid	decreases expression	1
Methapyrilene	increases methylation	1
Phthalic Acids	decreases methylation	1
Asbestos, Serpentine	increases methylation	1
Metals, Heavy	affects cotreatment, decreases methylation	1
Okadaic Acid	decreases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer