CDKN2AIP

Summary

CDKN2AIP (CDKN2A interacting protein, HGNC:24325) is a protein-coding gene on chromosome 4q35.1, encoding CDKN2A-interacting protein (Q9NXV6). Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence.

The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55602 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 218 total — 1 pathogenic
• MANE Select transcript: NM_017632

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24325
Approved symbol	CDKN2AIP
Name	CDKN2A interacting protein
Location	4q35.1
Locus type	gene with protein product
Status	Approved
Aliases	XTBD2, FLJ20036, CARF
Ensembl gene	ENSG00000168564
Ensembl biotype	protein_coding
OMIM	615914
Entrez	55602

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000302350, ENST00000502924, ENST00000504169, ENST00000506835, ENST00000510928, ENST00000855690

RefSeq mRNA: 2 — MANE Select: NM_017632 NM_001317343, NM_017632

CCDS: CCDS34110, CCDS82979

Canonical transcript exons

ENST00000504169 — 3 exons

Exon	Start	End
ENSE00001171775	183445535	183445665
ENSE00002048559	183444636	183445069
ENSE00003674632	183446088	183449064

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 92.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3671 / max 354.0304, expressed in 1786 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
50785	9.8602	1758
50787	1.9266	1042
50788	0.7147	369
50789	0.6772	347
50790	0.1883	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	92.89	gold quality
sperm	CL:0000019	92.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.36	gold quality
male germ cell	CL:0000015	89.68	gold quality
calcaneal tendon	UBERON:0003701	88.85	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.72	gold quality
lower esophagus mucosa	UBERON:0035834	88.33	gold quality
granulocyte	CL:0000094	87.98	gold quality
cortical plate	UBERON:0005343	87.97	gold quality
oral cavity	UBERON:0000167	87.95	gold quality
esophagus mucosa	UBERON:0002469	87.72	gold quality
colonic mucosa	UBERON:0000317	87.66	gold quality
secondary oocyte	CL:0000655	87.40	gold quality
ventricular zone	UBERON:0003053	87.34	gold quality
ganglionic eminence	UBERON:0004023	87.21	gold quality
bone marrow	UBERON:0002371	86.40	gold quality
rectum	UBERON:0001052	85.93	gold quality
esophagus squamous epithelium	UBERON:0006920	85.73	gold quality
right testis	UBERON:0004534	85.65	gold quality
left testis	UBERON:0004533	85.63	gold quality
esophagus	UBERON:0001043	85.59	gold quality
epithelium of esophagus	UBERON:0001976	85.43	gold quality
testis	UBERON:0000473	85.37	gold quality
islet of Langerhans	UBERON:0000006	85.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.11	gold quality
lymph node	UBERON:0000029	85.09	gold quality
gall bladder	UBERON:0002110	84.84	gold quality
pharyngeal mucosa	UBERON:0000355	84.54	gold quality
popliteal artery	UBERON:0002250	84.46	gold quality
tibial artery	UBERON:0007610	84.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
MDM2	Repression

Upstream regulators (CollecTRI, top): CARF

miRNA regulators (miRDB)

105 targeting CDKN2AIP, 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-656-3P	100.00	72.15	2788
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548E-5P	99.89	72.73	4486

Literature-anchored findings (GeneRIF, showing 16)

• cooperates with human p14ARF in activating p53 (PMID:12154087)
• CARF may exert a vital control on p53-HDM2-p21(WAF1) pathway that is central to the cell cycle control, senescence, and DNA damage response of human cells (PMID:17460193)
• CARF exerts a vital control on the p53-HDM2-p21WAF1 pathway that is frequently altered in cancer cells. (PMID:18292944)
• CARF may act as a novel key regulator of the p53 pathway at multiple checkpoints (PMID:18555516)
• CARF plays a dual role in regulating p53-mediated senescence and apoptosis, the two major tumor suppressor mechanisms. (PMID:19001376)
• CARF knockdown elicited DNA damage response as evidenced by increased levels of phosphorylated ATM and gammaH2AX, leading to induction of mitotic arrest and eventual apoptosis. (PMID:21052095)
• Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population. (PMID:22552337)
• CARF regulates proliferative fate of human cells by dose-dependent regulation of DNA damage signaling. (PMID:24825908)
• CARF promotes carcinogenesis in p53-deficient cells by repressing p21WAF1 and promoting cell cycle progression. (PMID:26278998)
• The results suggest that CARF regulates early steps of pre-rRNA processing during ribosome biogenesis by controlling spatial distribution of XRN2 between the nucleoplasm and nucleolus. (PMID:26531822)
• report that CARF (Collaborator of ARF) is a new target of miR-335 that regulates its growth suppressor function by complex crosstalk with other proteins including p16(INK4A), pRB, HDM2 and p21(WAF1) (PMID:27457128)
• Oncogenic functions of CARF in hepatocellular carcinoma tumorigenesis is a result of activation of beta-catenin/TCF signaling. (PMID:27829235)
• a comprehensive current understanding into the molecular mechanisms of CARF functions in regulation of DNA damage response, cell cycle checkpoints, cell survival and death signaling pathways. (PMID:28754531)
• Stress-induced changes in CARF expression determine cell fate to death, survival, or malignant transformation. (PMID:32221864)
• CDKN2AIP-induced cell senescence and apoptosis of testicular seminoma are associated with CARM1 and eIF4beta. (PMID:35593475)
• Fatty Acid Excess Dysregulates CARF to Initiate the Development of Hepatic Steatosis. (PMID:37048142)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdkn2aip	ENSDARG00000035853
mus_musculus	Cdkn2aip	ENSMUSG00000038069
rattus_norvegicus	Cdkn2aip	ENSRNOG00000022736
drosophila_melanogaster	CG31301	FBGN0051301
caenorhabditis_elegans	paxt-1	WBGENE00011034

Paralogs (2): NKRF (ENSG00000186416), CDKN2AIPNL (ENSG00000237190)

Protein

Protein identifiers

CDKN2A-interacting protein — Q9NXV6 (reviewed: Q9NXV6)

Alternative names: Collaborator of ARF

All UniProt accessions (3): Q9NXV6, D6RGD2, J3KNE1

UniProt curated annotations — full annotation on UniProt →

Function. Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence.

Subunit / interactions. Interacts with CDKN2A/p14ARF, p53/TP53 and MDM2. Interacts with CHEK2 and MAPK3. Interacts with XRN2.

Subcellular location. Nucleus. Nucleoplasm.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. May be ubiquitinated.

Induction. Up-regulated during replicative senescence, in response to DNA-damaging drugs, telomere unprotection and oncogenic Ras-induced stress. Induced by proteasomal inhibitor MG132. Up-regulated at G1 and G2 stages of cell cycle.

Similarity. Belongs to the CARF family.

RefSeq proteins (2): NP_001304272, NP_060102* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014720	dsRBD_dom	Domain
IPR021859	XTBD	Domain
IPR058828	DSRM_CARF/NKRF	Domain

Pfam: PF11952, PF26535

UniProt features (19 total): compositionally biased region 7, modified residue 5, domain 2, initiator methionine 1, chain 1, cross-link 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NXV6-F1	63.54	0.30

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 (6): 2, 131, 241, 346, 389, 184

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 318 (showing top): GGGACCA_MIR133A_MIR133B, RNGTGGGC_UNKNOWN, TGCGCANK_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GTCTACC_MIR379, GOBP_GROWTH, GOBP_RESPONSE_TO_METAL_ION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH, chr4q35, GOBP_DNA_DAMAGE_RESPONSE, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_POSITIVE_REGULATION_OF_GROWTH, LYF1_01

GO Biological Process (5): DNA damage response (GO:0006974), positive regulation of signal transduction (GO:0009967), positive regulation of cell growth (GO:0030307), negative regulation of cell growth (GO:0030308), regulation of protein stability (GO:0031647)

GO Molecular Function (3): p53 binding (GO:0002039), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (4): granular component (GO:0001652), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cell growth	2
cell growth	2
cellular anatomical structure	2
nuclear lumen	2
cellular response to stress	1
signal transduction	1
regulation of signal transduction	1
positive regulation of cell communication	1
positive regulation of signaling	1
positive regulation of response to stimulus	1
positive regulation of growth	1
positive regulation of cellular process	1
negative regulation of growth	1
negative regulation of cellular process	1
regulation of biological quality	1
protein binding	1
nucleic acid binding	1
binding	1
nucleolus	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1094 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDKN2AIP	CDKN2A	P42771	889
CDKN2AIP	XRN2	Q9H0D6	635
CDKN2AIP	RABL6	Q3YEC7	624
CDKN2AIP	TMEM145	Q8NBT3	499
CDKN2AIP	STOX2	Q9P2F5	461
CDKN2AIP	WWC2	Q6AWC2	461
CDKN2AIP	OR7C2	O60412	447
CDKN2AIP	MPHOSPH6	Q99547	440
CDKN2AIP	TRAPPC11	Q7Z392	433
CDKN2AIP	CLDN22	Q8N7P3	404
CDKN2AIP	PELO	Q9BRX2	375
CDKN2AIP	B9D2	Q9BPU9	365
CDKN2AIP	ING2	Q9H160	354
CDKN2AIP	TP53	P04637	321
CDKN2AIP	TCHP	Q9BT92	319

IntAct

106 interactions, top by confidence:

A	B	Type	Score
XRN2	CDKN2AIP	psi-mi:“MI:0915”(physical association)	0.710
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
FGF3	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
CDKN2AIP	MAGEB2	psi-mi:“MI:0914”(association)	0.530
CDKN2AIP	PCF11	psi-mi:“MI:0914”(association)	0.530
ADARB1	SPTY2D1	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPL13	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL4	TEFM	psi-mi:“MI:0914”(association)	0.530
DHX58	NKRF	psi-mi:“MI:0914”(association)	0.500
CDKN2AIP	ATP5PO	psi-mi:“MI:0915”(physical association)	0.400
Clp1	TSEN34	psi-mi:“MI:0915”(physical association)	0.400
KPNA1	MTA3	psi-mi:“MI:0914”(association)	0.350
CDKN2AIP	IFT88	psi-mi:“MI:0914”(association)	0.350
NEIL3	SF3B2	psi-mi:“MI:0914”(association)	0.350
HSPA5	NCOR2	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
HNRNPF	SUPT5H	psi-mi:“MI:0914”(association)	0.350
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
SART3	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
HNRNPDL	ERAL1	psi-mi:“MI:0914”(association)	0.350
CSN1S1	HSPA5	psi-mi:“MI:0914”(association)	0.350

BioGRID (180): CDKN2AIP (Affinity Capture-MS), CDKN2AIP (Affinity Capture-MS), CDKN2AIP (Co-fractionation), CDKN2AIP (Affinity Capture-RNA), CDKN2AIP (Two-hybrid), CDKN2AIP (Affinity Capture-MS), ADD1 (Affinity Capture-MS), BUB1 (Affinity Capture-MS), COL1A2 (Affinity Capture-MS), HIVEP1 (Affinity Capture-MS), HNRNPU (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), KPNA1 (Affinity Capture-MS), PAK2 (Affinity Capture-MS), POLR2I (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8G2K9, A0A1P8AW69, A0A5F8MPU3, A6H8Y1, B4R4H1, D3ZEN0, F4HTH8, F4HXQ7, F4KB17, O15231, O95171, P62287, P62288, P62289, P62290, P62291, P62292, P62293, P62294, P62296, Q14966, Q15361, Q3TN34, Q5STT6, Q5U2X0, Q5ZI58, Q60DG4, Q60GC1, Q61464, Q65Z40, Q66H38, Q6DRC5, Q6NYJ3, Q7Z5K2, Q84ZL0, Q8BI72, Q8BP27, Q8C627, Q8H0T9, Q8N9W8

Diamond homologs: F4JCU0, O15226, Q5U2X0, Q6PAV5, Q7TQC7, Q8BI72, Q8BY02, Q8CH09, Q8IX01, Q9NW75, Q9NXV6, Q24JY8, Q5RK03, Q7ZXV6, Q96HQ2, Q9D211

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CDKN2AIP	up-regulates	TP53	binding
CDKN2AIP	“down-regulates quantity by repression”	MDM2	“transcriptional regulation”
MDM2	down-regulates	CDKN2AIP	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 145 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
mRNA Splicing	12	14.6×	2e-09
mRNA 3’-end processing	6	13.1×	4e-04
Processing of Capped Intron-Containing Pre-mRNA	14	12.8×	6e-10
mRNA Polyadenylation	13	12.7×	2e-09
mRNA Splicing - Major Pathway	17	10.3×	1e-10
Metabolism of RNA	19	8.8×	1e-10
Dengue Virus-Host Interactions	17	8.6×	1e-09
Major pathway of rRNA processing in the nucleolus and cytosol	12	8.2×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
RNA processing	8	13.4×	3e-05
regulation of alternative mRNA splicing, via spliceosome	6	11.2×	2e-03
negative regulation of translation	7	10.5×	6e-04
mRNA splicing, via spliceosome	13	9.1×	7e-07
mRNA processing	15	9.0×	9e-08
RNA splicing	13	8.8×	8e-07
rRNA processing	8	8.7×	6e-04
cytoplasmic translation	6	8.5×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	176
Likely benign	12
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2423656	NC_000004.11:g.(?183245174)(184633797_?)del	Pathogenic

SpliceAI

273 predictions. Top by Δscore:

Variant	Effect	Δscore
4:183445067:CCGGT:C	donor_loss	1.0000
4:183445070:G:GA	donor_loss	1.0000
4:183445070:G:GG	donor_gain	1.0000
4:183445071:T:G	donor_loss	1.0000
4:183445074:G:GG	donor_gain	1.0000
4:183445529:TTTCA:T	acceptor_loss	1.0000
4:183445530:TTCAG:T	acceptor_loss	1.0000
4:183445531:TCAG:T	acceptor_loss	1.0000
4:183445532:CA:C	acceptor_loss	1.0000
4:183445533:A:AG	acceptor_gain	1.0000
4:183445533:AGAT:A	acceptor_loss	1.0000
4:183445534:G:GG	acceptor_gain	1.0000
4:183445627:TTGCC:T	donor_gain	1.0000
4:183445649:G:T	donor_gain	1.0000
4:183446083:TTTAG:T	acceptor_loss	1.0000
4:183446086:A:AG	acceptor_gain	1.0000
4:183446086:A:AT	acceptor_loss	1.0000
4:183446086:AGAAG:A	acceptor_gain	1.0000
4:183446087:G:GT	acceptor_gain	1.0000
4:183446087:GA:G	acceptor_gain	1.0000
4:183446087:GAA:G	acceptor_gain	1.0000
4:183446087:GAAGG:G	acceptor_gain	1.0000
4:183445066:GCCG:G	donor_gain	0.9900
4:183445073:A:AG	donor_gain	0.9900
4:183445534:GAT:G	acceptor_gain	0.9900
4:183445534:GATA:G	acceptor_gain	0.9900
4:183445630:CCAAG:C	donor_loss	0.9900
4:183445631:CAAG:C	donor_loss	0.9900
4:183445632:AAGGT:A	donor_loss	0.9900
4:183445633:AGGTG:A	donor_loss	0.9900

AlphaMissense

3738 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:183444910:T:C	F38S	1.000
4:183447012:T:C	L443P	1.000
4:183447029:T:A	W449R	1.000
4:183447029:T:C	W449R	1.000
4:183447288:T:C	F535S	1.000
4:183447325:G:C	R547S	1.000
4:183447325:G:T	R547S	1.000
4:183447360:T:A	L559H	1.000
4:183447360:T:C	L559P	1.000
4:183444900:C:A	R35S	0.999
4:183444904:G:C	R36P	0.999
4:183444909:T:C	F38L	0.999
4:183444911:T:A	F38L	0.999
4:183444911:T:G	F38L	0.999
4:183444913:T:C	L39S	0.999
4:183445033:C:T	S79F	0.999
4:183445041:T:A	W82R	0.999
4:183445041:T:C	W82R	0.999
4:183445561:T:A	I100K	0.999
4:183447014:T:G	Y444D	0.999
4:183447017:A:G	K445E	0.999
4:183447018:A:T	K445I	0.999
4:183447019:A:C	K445N	0.999
4:183447019:A:T	K445N	0.999
4:183447024:T:A	V447E	0.999
4:183447027:C:A	A448E	0.999
4:183447031:G:C	W449C	0.999
4:183447031:G:T	W449C	0.999
4:183447036:T:C	L451S	0.999
4:183447084:T:C	L467P	0.999

dbSNP variants (sampled 300 via entrez): RS1000801073 (4:183445202 C>A,T), RS1000956513 (4:183445483 G>A), RS1001196996 (4:183443579 T>G), RS1001628424 (4:183443732 G>A), RS1001780667 (4:183447711 C>G,T), RS1002227963 (4:183444516 C>T), RS1002601975 (4:183444437 G>T), RS1002760501 (4:183445584 A>C,G,T), RS1002815990 (4:183443562 A>G), RS1002966729 (4:183447338 A>G), RS1002999340 (4:183447647 T>C), RS1004408178 (4:183447691 A>G), RS1004487578 (4:183443979 A>C), RS1004500482 (4:183445933 ACT>A), RS1005096437 (4:183449267 A>G,T)

Disease associations

OMIM: gene MIM:615914 | 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

18 associations (top):

Study	Trait	p-value
GCST003720_9	Migraine	2.000000e-08
GCST009391_122	Metabolite levels	8.000000e-06
GCST010101_5	White matter hyperintensities	4.000000e-13
GCST010102_1	White matter integrity (fractional anisotropy)	7.000000e-08
GCST010102_2	White matter integrity (fractional anisotropy)	6.000000e-09
GCST010479_61	Coronary artery disease	5.000000e-18
GCST010698_18	Subcortical volume (min-P)	1.000000e-08
GCST010699_69	Brain morphology (min-P)	9.000000e-20
GCST010700_6	Cortical thickness (MOSTest)	2.000000e-14
GCST010701_36	Cortical surface area (MOSTest)	2.000000e-24
GCST010702_146	Subcortical volume (MOSTest)	2.000000e-13
GCST010703_42	Brain morphology (MOSTest)	1.000000e-08
GCST010866_42	Coronary artery disease	5.000000e-27
GCST011364_5	Myocardial infarction	2.000000e-10
GCST011365_36	Myocardial infarction	1.000000e-21
GCST012580_5	White matter hyperintensities	4.000000e-08
GCST90014122_1	Lacunar stroke	4.000000e-09
GCST90014123_1	Lacunar stroke	5.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0010354	diacylglycerol 36:1 measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0004641	white matter integrity
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Cisplatin	affects response to substance, decreases expression, increases reaction, increases expression	3
Valproic Acid	affects expression, decreases expression	3
Air Pollutants	affects expression, increases abundance, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
withaferin A	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
cupric oxide	increases expression	1
nivalenol	increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
jinfukang	decreases expression, increases reaction	1
Sunitinib	increases expression	1
Zoledronic Acid	decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases 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