PALM2AKAP2

Summary

PALM2AKAP2 (PALM2 and AKAP2 fusion, HGNC:33529) is a protein-coding gene on chromosome 9q31.3, encoding PALM2-AKAP2 fusion protein (Q9Y2D5). Binds to regulatory subunit (RII) of protein kinase A.

This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene.

Source: NCBI Gene 445815 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 195 total
• MANE Select transcript: NM_007203

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33529
Approved symbol	PALM2AKAP2
Name	PALM2 and AKAP2 fusion
Location	9q31.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000157654
Ensembl biotype	protein_coding
OMIM	604582
Entrez	445815

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000259318, ENST00000302798, ENST00000314527, ENST00000374525, ENST00000374530, ENST00000374531, ENST00000413420, ENST00000434623, ENST00000465091, ENST00000471798, ENST00000480388, ENST00000482335, ENST00000483909, ENST00000485762, ENST00000495980, ENST00000497711, ENST00000674068, ENST00000879960

RefSeq mRNA: 7 — MANE Select: NM_007203 NM_001004065, NM_001037293, NM_001136562, NM_001198656, NM_007203, NM_053016, NM_147150

CCDS: CCDS35099, CCDS35100, CCDS35101, CCDS43861, CCDS48002, CCDS48003, CCDS56581

Canonical transcript exons

ENST00000374530 — 11 exons

Exon	Start	End
ENSE00003464429	110015954	110016039
ENSE00003679931	109780198	109780533
ENSE00003891102	109925061	109925082
ENSE00003891329	109931927	109932028
ENSE00003891411	109867491	109867571
ENSE00003892169	110156319	110156497
ENSE00003892969	110168399	110172512
ENSE00003894401	110136127	110138539
ENSE00003894781	109880551	109880681
ENSE00003895574	109923735	109923849
ENSE00003896025	110162094	110162132

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 72.0021 / max 2349.7275, expressed in 1645 samples.

FANTOM5 promoters (26 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97957	45.8863	1609
97958	5.5287	1097
97967	4.3114	861
97944	3.4013	907
97942	2.3340	894
97946	2.1780	742
97979	1.7905	253
97937	1.2994	107
97978	0.9985	202
97949	0.9225	94

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saphenous vein	UBERON:0007318	99.07	gold quality
lower lobe of lung	UBERON:0008949	98.94	gold quality
superficial temporal artery	UBERON:0001614	98.82	gold quality
pericardium	UBERON:0002407	98.76	gold quality
secondary oocyte	CL:0000655	98.69	gold quality
vena cava	UBERON:0004087	98.62	gold quality
heart right ventricle	UBERON:0002080	98.57	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.46	gold quality
urethra	UBERON:0000057	98.37	gold quality
tendon of biceps brachii	UBERON:0008188	98.35	gold quality
visceral pleura	UBERON:0002401	98.33	gold quality
left ventricle myocardium	UBERON:0006566	98.31	gold quality
myocardium	UBERON:0002349	98.15	gold quality
cardia of stomach	UBERON:0001162	97.99	gold quality
mammary duct	UBERON:0001765	97.96	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.84	gold quality
synovial joint	UBERON:0002217	97.77	gold quality
pleura	UBERON:0000977	97.76	gold quality
parietal pleura	UBERON:0002400	97.54	gold quality
pylorus	UBERON:0001166	97.44	gold quality
placenta	UBERON:0001987	97.38	gold quality
colonic epithelium	UBERON:0000397	97.31	gold quality
skin of hip	UBERON:0001554	97.21	gold quality
lung	UBERON:0002048	96.97	gold quality
cartilage tissue	UBERON:0002418	96.75	gold quality
penis	UBERON:0000989	96.63	gold quality
adipose tissue	UBERON:0001013	96.61	gold quality
connective tissue	UBERON:0002384	96.54	gold quality
smooth muscle tissue	UBERON:0001135	96.41	gold quality
blood vessel layer	UBERON:0004797	96.39	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	1918.57
E-HCAD-35	yes	77.74
E-HCAD-10	yes	41.21
E-CURD-46	yes	26.24
E-CURD-112	yes	22.49
E-MTAB-8410	yes	19.36
E-MTAB-9067	yes	13.33
E-CURD-114	yes	10.07
E-GEOD-135922	yes	9.64
E-GEOD-84465	yes	7.65
E-MTAB-9801	yes	7.51
E-MTAB-6678	yes	6.28
E-ANND-3	no	0.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

189 targeting PALM2AKAP2, 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-8485	100.00	77.57	4731
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 7)

• The complex phenotype with Kallmann syndrome and bone anomalies observed in the patient could be the result of the interruption of the AKAP2 gene. (PMID:17273791)
• AKAP2 is expressed in human prostates, its expression is elevated in metastatic prostate cancer. (PMID:26432469)
• AKAP2 was therefore implicated as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis. (PMID:26989089)
• study of the variants in AKAP2 gene did not support its association with the susceptibility of adolescent idiopathic scoliosis in the Chinese population. (PMID:28838314)
• expression of AKAP2 was elevated in ovarian cancer. Furthermore, overexpression of AKAP2 promoted the growth and migration of ovarian cancer cells, whereas knockdown of AKAP2 expression reduced the growth and migration of ovarian cancer cells. (PMID:28849175)
• Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell Carcinoma Cells Through Activating Ezrin. (PMID:37328063)
• AKAP2-anchored extracellular signal-regulated kinase 1 (ERK1) regulates cardiac myofibroblast migration. (PMID:38242328)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pakap	ENSMUSG00000038729
rattus_norvegicus	Pakap	ENSRNOG00000011504

Paralogs (3): PALMD (ENSG00000099260), PALM (ENSG00000099864), PALM3 (ENSG00000187867)

Protein

Protein identifiers

PALM2-AKAP2 fusion protein — Q9Y2D5 (reviewed: Q9Y2D5)

Alternative names: A-kinase anchor protein 2, AKAP-KL, Paralemmin A kinase anchor protein, Paralemmin-2, Protein kinase A-anchoring protein 2

All UniProt accessions (7): Q9Y2D5, A0A669KBK1, B1ALY0, C9JA33, C9JVY5, C9JZH4, F8WF36

UniProt curated annotations — full annotation on UniProt →

Function. Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP. Binds to and modulates the structure of the actin cytoskeleton.

Subcellular location. Apical cell membrane.

Tissue specificity. Expressed in infantile heart and muscle, and fibroblasts.

Domain organisation. The RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

Miscellaneous. Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein. Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.

Isoforms (7)

UniProt ID	Names	Canonical?
Q9Y2D5-4	3, PALM2-AKAP2	yes
Q9Y2D5-3	1
Q9Y2D5-5	2
Q9Y2D5-6	4
Q9Y2D5-7	5
Q9Y2D5-8	6, Palm2, Paralemmin-2
Q9Y2D5-9	7

RefSeq proteins (7): NP_001004065, NP_001032370, NP_001130034, NP_001185585, NP_009134, NP_443749, NP_671492 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004965	Paralemmin	Family

Pfam: PF03285

UniProt features (55 total): modified residue 14, compositionally biased region 12, splice variant 9, region of interest 8, sequence conflict 6, coiled-coil region 2, cross-link 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2D5-F1	56.88	0.13

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 (16): 322, 352, 383, 567, 624, 692, 696, 748, 757, 862, 951, 979, 1009, 1016, 405, 405

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 232 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, VERHAAK_AML_WITH_NPM1_MUTATED_DN, AAGCAAT_MIR137, GGTGTGT_MIR329, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MITSIADES_RESPONSE_TO_APLIDIN_DN, ATGCAGT_MIR217, WEI_MYCN_TARGETS_WITH_E_BOX, CAIRO_HEPATOBLASTOMA_CLASSES_DN, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, DAUER_STAT3_TARGETS_UP, LINDSTEDT_DENDRITIC_CELL_MATURATION_B

GO Biological Process (4): actin filament organization (GO:0007015), cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178), intracellular protein localization (GO:0008104), regulation of cell shape (GO:0008360)

GO Molecular Function (2): protein kinase A binding (GO:0051018), protein binding (GO:0005515)

GO Cellular Component (4): apical plasma membrane (GO:0016324), side of membrane (GO:0098552), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
membrane	2
cellular anatomical structure	2
actin cytoskeleton organization	1
supramolecular fiber organization	1
enzyme-linked receptor protein signaling pathway	1
macromolecule localization	1
regulation of cell morphogenesis	1
regulation of biological quality	1
protein binding	1
binding	1
apical part of cell	1
plasma membrane region	1
leaflet of membrane bilayer	1
cell periphery	1

Protein interactions and networks

STRING

764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PALM2AKAP2	AKAP1	Q92667	734
PALM2AKAP2	PRKACA	P17612	726
PALM2AKAP2	PRKACB	P22694	724
PALM2AKAP2	PRKACG	P22612	709
PALM2AKAP2	MIP	P30301	627
PALM2AKAP2	AKAP7	O43687	620
PALM2AKAP2	AKAP10	O43572	597
PALM2AKAP2	MISP	Q8IVT2	571
PALM2AKAP2	PRKAR2B	P31323	555
PALM2AKAP2	AKAP13	Q12802	516
PALM2AKAP2	MISP3	Q96FF7	500
PALM2AKAP2	RAB32	Q13637	498
PALM2AKAP2	AKAP11	Q9UKA4	497
PALM2AKAP2	CALM1	P02593	491
PALM2AKAP2	SFT2D2	O95562	478
PALM2AKAP2	DHRS2	Q13268	478

IntAct

98 interactions, top by confidence:

A	B	Type	Score
PRKACA	VAPB	psi-mi:“MI:0914”(association)	0.730
	PRKAR1A	psi-mi:“MI:0914”(association)	0.700
GRB2	PALM2AKAP2	psi-mi:“MI:0915”(physical association)	0.560
PALM2AKAP2	OPTN	psi-mi:“MI:0915”(physical association)	0.560
SYT5	SYT1	psi-mi:“MI:0914”(association)	0.530
PRKAR1A	AKAP3	psi-mi:“MI:0914”(association)	0.530
PRKAR2B	AMY1A	psi-mi:“MI:0914”(association)	0.530
CKM	PALM2AKAP2	psi-mi:“MI:0914”(association)	0.530
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
PALM2AKAP2	CRK	psi-mi:“MI:0915”(physical association)	0.400
SRC	PALM2AKAP2	psi-mi:“MI:0915”(physical association)	0.400
NCK1	PALM2AKAP2	psi-mi:“MI:0915”(physical association)	0.400
PALM2AKAP2	PIK3R1	psi-mi:“MI:0915”(physical association)	0.400
PALM2AKAP2	PLCG1	psi-mi:“MI:0915”(physical association)	0.400
PALM2AKAP2	ATP5F1A	psi-mi:“MI:0915”(physical association)	0.400
Cdk1		psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot2	ACTG1	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (136): AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), PALM2-AKAP2 (Affinity Capture-MS), PALM2-AKAP2 (Affinity Capture-MS), AKAP2 (Proximity Label-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS), AKAP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTU1, A2AUY4, B7ZS37, D3Z8Y2, D4A4L4, D4A666, E1B7L7, O46385, O60293, O75152, O95425, P0DQW0, Q08AZ1, Q3KQW7, Q3U1C4, Q3UH68, Q3ZC82, Q4G0F8, Q4V9H5, Q5F3Z9, Q5NBX1, Q5REG6, Q5ZJJ1, Q5ZM88, Q61464, Q62394, Q68FE9, Q6NZF1, Q6PJT7, Q6ZQ03, Q6ZU65, Q76L83, Q7TMD5, Q8BHZ4, Q8BJ05, Q8BLG0, Q8BZ32, Q8C9B9, Q8CCJ9, Q8K298

Diamond homologs: A2TJV2, A6NDB9, O54931, Q2MJV9, Q3MHH7, Q4KM62, Q7ZX27, Q9JHU2, Q9NP74, Q9Y2D5, Q9YGL6, O75781, Q2MJV8, Q5U301, Q920Q0, Q9Z0P4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 107 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
Downstream signal transduction	7	36.0×	2e-07
Anti-inflammatory response favouring Leishmania parasite infection	5	26.6×	6e-05
Leishmania parasite growth and survival	5	26.6×	6e-05
RET signaling	7	24.6×	2e-06
FCGR3A-mediated IL10 synthesis	6	23.7×	2e-05
DAG and IP3 signaling	5	21.4×	1e-04
Response of endothelial cells to shear stress	5	20.3×	1e-04
Signaling by FGFR1 in disease	5	19.8×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
epidermal growth factor receptor signaling pathway	6	16.5×	7e-04
cell migration	14	9.6×	2e-07
actin cytoskeleton organization	9	7.9×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	163
Likely benign	20
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

3154 predictions. Top by Δscore:

Variant	Effect	Δscore
9:109640863:TGGA:T	donor_gain	1.0000
9:109640864:GGA:G	donor_gain	1.0000
9:109640864:GGAG:G	donor_gain	1.0000
9:109640865:GA:G	donor_gain	1.0000
9:109640865:GAG:G	donor_gain	1.0000
9:109640867:G:GG	donor_gain	1.0000
9:109780514:A:T	donor_gain	1.0000
9:109780529:TAGCA:T	donor_gain	1.0000
9:109780530:AGCA:A	donor_gain	1.0000
9:109780531:GCA:G	donor_gain	1.0000
9:109780531:GCAG:G	donor_gain	1.0000
9:109780532:CA:C	donor_gain	1.0000
9:109780533:AG:A	donor_loss	1.0000
9:109780534:G:GG	donor_gain	1.0000
9:109780535:T:G	donor_loss	1.0000
9:109867488:A:AG	acceptor_gain	1.0000
9:109867488:AAG:A	acceptor_gain	1.0000
9:109867489:A:G	acceptor_gain	1.0000
9:109867568:CAAGG:C	donor_loss	1.0000
9:109867569:AAGGT:A	donor_loss	1.0000
9:109867570:AGG:A	donor_loss	1.0000
9:109867572:G:A	donor_loss	1.0000
9:109867573:T:G	donor_loss	1.0000
9:109880541:A:AG	acceptor_gain	1.0000
9:109880542:C:G	acceptor_gain	1.0000
9:109880548:C:G	acceptor_gain	1.0000
9:109880678:AGAGG:A	donor_loss	1.0000
9:109880679:GAG:G	donor_gain	1.0000
9:109880680:AG:A	donor_gain	1.0000
9:109880681:GG:G	donor_gain	1.0000

AlphaMissense

7223 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:110138402:T:A	I722N	1.000
9:110168450:T:A	W845R	1.000
9:110168450:T:C	W845R	1.000
9:110168452:G:C	W845C	1.000
9:110168452:G:T	W845C	1.000
9:109780525:G:C	A13P	0.999
9:109780531:G:C	A15P	0.999
9:110136911:T:C	L225P	0.999
9:110138402:T:G	I722S	0.999
9:110138414:T:C	I726T	0.999
9:110138414:T:G	I726S	0.999
9:110138422:G:C	A729P	0.999
9:110168442:C:A	A842D	0.999
9:110168451:G:C	W845S	0.999
9:110168456:G:C	A847P	0.999
9:110168459:G:T	G848W	0.999
9:109880564:G:C	R47P	0.998
9:109880572:T:A	W50R	0.998
9:109880572:T:C	W50R	0.998
9:110136772:T:C	F179L	0.998
9:110136774:T:A	F179L	0.998
9:110136774:T:G	F179L	0.998
9:110136903:G:C	R222S	0.998
9:110136903:G:T	R222S	0.998
9:110136958:T:A	W241R	0.998
9:110136958:T:C	W241R	0.998
9:110137226:T:C	F330S	0.998
9:110138362:T:C	F709L	0.998
9:110138364:C:A	F709L	0.998
9:110138364:C:G	F709L	0.998

dbSNP variants (sampled 300 via entrez): RS1000007811 (9:110107670 G>A), RS1000016585 (9:109756504 A>G,T), RS1000023453 (9:109757273 C>T), RS1000027258 (9:109717592 G>A,T), RS1000032814 (9:110003212 A>G,T), RS1000042425 (9:110022679 T>C), RS1000043650 (9:109762812 G>A), RS1000051006 (9:110134438 T>C), RS1000059769 (9:109680612 T>C), RS1000067312 (9:110003886 A>C,T), RS1000073597 (9:109797012 C>T), RS1000089341 (9:109840148 G>C), RS1000092172 (9:109925197 A>C), RS1000092389 (9:109967368 A>G), RS1000093467 (9:109962530 A>T)

Disease associations

OMIM: gene MIM:604582 | 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
GCST000522_5	Height	3.000000e-06
GCST001762_126	Obesity-related traits	8.000000e-06
GCST009183_8	Posterior-cingulate cortex volume	7.000000e-06
GCST012490_580	Femur bone mineral density x serum urate levels interaction	5.000000e-11
GCST012490_80	Femur bone mineral density x serum urate levels interaction	2.000000e-10
GCST90002385_391	High light scatter reticulocyte count	6.000000e-19
GCST90002386_433	High light scatter reticulocyte percentage of red cells	5.000000e-21
GCST90002387_341	Immature fraction of reticulocytes	1.000000e-17
GCST90002388_224	Lymphocyte count	3.000000e-13
GCST90002398_156	Neutrophil count	5.000000e-10
GCST90002400_386	Plateletcrit	3.000000e-09
GCST90002401_491	Platelet distribution width	6.000000e-12
GCST90002405_466	Reticulocyte count	9.000000e-12
GCST90002406_282	Reticulocyte fraction of red cells	2.000000e-14
GCST90002407_118	White blood cell count	4.000000e-14
GCST90020026_759	Hip index	3.000000e-12
GCST90020026_761	Hip index	6.000000e-11
GCST90020028_351	Hip circumference adjusted for BMI	3.000000e-08
GCST90020028_363	Hip circumference adjusted for BMI	4.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0004531	urate measurement
EFO:0007986	reticulocyte count
EFO:0004587	lymphocyte count
EFO:0004833	neutrophil count
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0008039	BMI-adjusted hip circumference

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases methylation, affects cotreatment, increases expression	7
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	4
bisphenol A	affects cotreatment, increases methylation, increases expression	3
trichostatin A	affects cotreatment, increases expression	3
bisphenol F	affects cotreatment, decreases expression, increases expression	2
bisphenol S	increases methylation, decreases methylation, increases expression, affects cotreatment	2
Cisplatin	affects cotreatment, decreases expression	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Estradiol	increases expression, affects cotreatment	2
Tretinoin	decreases expression	2
Cyclosporine	increases expression, decreases expression	2
Aflatoxin B1	decreases methylation, affects expression	2
FR900359	affects phosphorylation	1
testosterone enanthate	affects expression	1
methylmercuric chloride	increases expression	1
alpha-pinene	decreases expression, increases abundance, affects cotreatment	1
glycidyl methacrylate	increases expression	1
methylselenic acid	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
ciglitazone	affects binding, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
diallyl trisulfide	increases expression	1
celastrol	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