COL24A1

Summary

COL24A1 (collagen type XXIV alpha 1 chain, HGNC:20821) is a protein-coding gene on chromosome 1p22.3, encoding Collagen alpha-1(XXIV) chain (Q17RW2). May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.

This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development.

Source: NCBI Gene 255631 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
• GWAS associations: 28
• Clinical variants (ClinVar): 278 total
• Druggable target: yes
• MANE Select transcript: NM_152890

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20821
Approved symbol	COL24A1
Name	collagen type XXIV alpha 1 chain
Location	1p22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171502
Ensembl biotype	protein_coding
OMIM	610025
Entrez	255631

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000370571, ENST00000426639, ENST00000473734, ENST00000485434, ENST00000496682

RefSeq mRNA: 2 — MANE Select: NM_152890 NM_001349955, NM_152890

CCDS: CCDS41353

Canonical transcript exons

ENST00000370571 — 60 exons

Exon	Start	End
ENSE00001067343	86022954	86023007
ENSE00001067348	86022240	86022293
ENSE00001067350	86033870	86033923
ENSE00001067352	86017151	86017204
ENSE00001143582	86089174	86089227
ENSE00001143589	86124845	86126214
ENSE00001161747	86092267	86092320
ENSE00001161757	86112567	86112620
ENSE00001188437	85965009	85965062
ENSE00001188440	85970227	85970271
ENSE00001188444	85987601	85987654
ENSE00001188452	86022538	86022591
ENSE00001188462	86050124	86050177
ENSE00001188469	85961249	85961293
ENSE00001188472	86057931	86057975
ENSE00001244361	85761396	85761422
ENSE00001244370	85761531	85761566
ENSE00001244606	85971340	85971393
ENSE00001244632	86022833	86022877
ENSE00001244641	86031878	86031922
ENSE00001244652	86046825	86046869
ENSE00001244672	86059121	86059174
ENSE00001244678	86063715	86063759
ENSE00001244704	86115325	86115378
ENSE00001244715	86146119	86146183
ENSE00001453055	85729233	85730692
ENSE00003463412	85781220	85781273
ENSE00003486316	85896356	85896409
ENSE00003487664	85868782	85868835
ENSE00003489759	85847665	85847772
ENSE00003501488	85908598	85908651
ENSE00003503026	85786354	85786461
ENSE00003503640	85849353	85849406
ENSE00003509273	85874649	85874702
ENSE00003515788	85911380	85911433
ENSE00003527207	85775674	85775709
ENSE00003530784	85823536	85823589
ENSE00003533302	85745441	85745506
ENSE00003543677	85841222	85841278
ENSE00003552022	85842340	85842393
ENSE00003552621	85875277	85875330
ENSE00003572012	85877122	85877175
ENSE00003572502	85784259	85784366
ENSE00003575300	85783496	85783558
ENSE00003578135	85734749	85734964
ENSE00003595640	85823685	85823738
ENSE00003612727	85842068	85842121
ENSE00003613766	85889560	85889613
ENSE00003627809	85816788	85816895
ENSE00003629625	85896021	85896065
ENSE00003641969	85744666	85744834
ENSE00003646826	85895858	85895902
ENSE00003652242	85909950	85910003
ENSE00003654913	85838585	85838638
ENSE00003662195	85868519	85868626
ENSE00003665214	85784113	85784166
ENSE00003670679	85818034	85818087
ENSE00003680961	85737396	85737505
ENSE00003693267	85907194	85907247
ENSE00003843434	86156341	86156772

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 87.00.

FANTOM5 (CAGE): breadth broad, TPM avg 3.0622 / max 544.0753, expressed in 569 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13089	1.0861	254
13093	0.6062	229
13092	0.5033	185
13085	0.4491	107
13090	0.1590	68
13091	0.0838	29
13088	0.0628	24
13084	0.0377	18
13094	0.0335	15
13086	0.0329	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	87.00	gold quality
middle temporal gyrus	UBERON:0002771	84.43	gold quality
tibia	UBERON:0000979	83.56	gold quality
endothelial cell	CL:0000115	82.74	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.89	gold quality
calcaneal tendon	UBERON:0003701	77.04	gold quality
muscle layer of sigmoid colon	UBERON:0035805	76.60	gold quality
stromal cell of endometrium	CL:0002255	76.29	gold quality
sural nerve	UBERON:0015488	74.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	73.44	gold quality
lower esophagus	UBERON:0013473	73.43	gold quality
endocervix	UBERON:0000458	73.06	gold quality
primary visual cortex	UBERON:0002436	72.74	gold quality
right frontal lobe	UBERON:0002810	71.64	gold quality
buccal mucosa cell	CL:0002336	71.13	gold quality
Brodmann (1909) area 9	UBERON:0013540	70.63	gold quality
ectocervix	UBERON:0012249	69.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	69.00	gold quality
urinary bladder	UBERON:0001255	68.80	gold quality
bone marrow cell	CL:0002092	67.94	silver quality
anterior cingulate cortex	UBERON:0009835	67.57	gold quality
frontal cortex	UBERON:0001870	67.44	gold quality
Ammon’s horn	UBERON:0001954	67.40	gold quality
right atrium auricular region	UBERON:0006631	67.26	gold quality
uterine cervix	UBERON:0000002	67.18	gold quality
vagina	UBERON:0000996	67.12	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	67.08	gold quality
prefrontal cortex	UBERON:0000451	66.98	gold quality
neocortex	UBERON:0001950	66.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.58

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): JUN

miRNA regulators (miRDB)

95 targeting COL24A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-5582-3P	99.86	72.48	4221

Literature-anchored findings (GeneRIF, showing 2)

• collagen XXIV is an ancient molecule that may contribute to the regulation of type I collagen fibrillogenesis at specific anatomical locations during fetal development (PMID:12874293)
• The authors show that maternal COL24A1 variants have a significant genome-wide interaction with maternal pre-pregnancy overweight/obesity on Preterm birth risk, with rs11161721 (PG x E=1.8 x 10(-8); empirical PG x E=1.2 x 10(-8)) as the top hit. (PMID:28598419)

Cross-species orthologs

0 orthologs

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-1(XXIV) chain — Q17RW2 (reviewed: Q17RW2)

All UniProt accessions (4): Q17RW2, E9PNK8, F8WDM8, H0YCZ7

UniProt curated annotations — full annotation on UniProt →

Function. May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Similarity. Belongs to the fibrillar collagen family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q17RW2-1	1	yes
Q17RW2-2	2

RefSeq proteins (2): NP_001336884, NP_690850* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000885	Fib_collagen_C	Domain
IPR008160	Collagen	Repeat
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR048287	TSPN-like_N	Domain
IPR050149	Collagen_superfamily	Family

Pfam: PF01391, PF01410

UniProt features (48 total): domain 19, compositionally biased region 13, sequence variant 8, glycosylation site 3, signal peptide 1, chain 1, region of interest 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17RW2-F1	49.59	0.11

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 (3): 155, 321, 376

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-8874081	MET activates PTK2 signaling
R-HSA-8948216	Collagen chain trimerization
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells

MSigDB gene sets: 113 (showing top): ACTACCT_MIR196A_MIR196B, BENPORATH_ES_WITH_H3K27ME3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_COLLAGEN_TRIMER, TTTGTAG_MIR520D, CAGGTCC_MIR492, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GOCC_BASEMENT_MEMBRANE, chr1p22, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, PID_ATF2_PATHWAY, GOCC_COMPLEX_OF_COLLAGEN_TRIMERS

GO Biological Process (0):

GO Molecular Function (3): extracellular matrix structural constituent conferring tensile strength (GO:0030020), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), basement membrane (GO:0005604), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), collagen type XXIV trimer (GO:1990323), collagen trimer (GO:0005581)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Collagen formation	2
MET promotes cell motility	1
Collagen biosynthesis and modifying enzymes	1
Developmental Cell Lineages of the Exocrine Pancreas	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular matrix	2
extracellular matrix structural constituent	1
structural molecule activity	1
binding	1
cellular anatomical structure	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
fibrillar collagen trimer	1
protein-containing complex	1

Protein interactions and networks

STRING

1186 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL24A1	LAMC1	P11047	716
COL24A1	CNIH1	O95406	516
COL24A1	CNIH3	Q8TBE1	503
COL24A1	ITGB3	P05106	484
COL24A1	C1QL1	O75973	445
COL24A1	CTHRC1	Q96CG8	445
COL24A1	SFXN4	Q6P4A7	438
COL24A1	MAPK8IP3	Q9UPT6	418
COL24A1	EBF2	Q9HAK2	395
COL24A1	SEC16B	Q96JE7	389
COL24A1	KCNH4	Q9UQ05	387
COL24A1	PSME4	Q14997	387
COL24A1	GNAL	P38405	386
COL24A1	CRYM	Q14894	385
COL24A1	FAM91A1	Q658Y4	383

IntAct

10 interactions, top by confidence:

A	B	Type	Score
COL24A1	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
COL24A1	APPBP2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): COL24A1 (Two-hybrid), COL24A1 (Two-hybrid), COL24A1 (Affinity Capture-MS), HSPA1A (Cross-Linking-MS (XL-MS)), COL24A1 (Cross-Linking-MS (XL-MS)), COL24A1 (Affinity Capture-MS)

ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WGB1, A8WR59, B2RNN3, B7Z0K8, C7DZK3, O35167, O35348, O76368, O88207, P0C862, P12107, P13942, P20908, P20909, P23805, P25067, P25318, P25940, P42916, P83371, P98085, Q03637, Q07092, Q07563, Q0II24, Q0VF58, Q17RW2, Q30D77, Q32S24, Q3MI99, Q4ZJM7, Q4ZJN1, Q60467, Q61245, Q64739, Q6UXH8

Diamond homologs: A0MSJ1, C7DZK3, O42350, O88207, P02452, P02457, P02458, P02459, P02460, P02461, P02466, P05997, P08121, P12105, P12107, P13941, P13942, P20908, P20909, Q17RW2, Q30D77, Q32S24, Q3U962, Q5QNQ9, Q60467, Q61245, Q64739, Q6P4Z2, Q80ZF0, Q8IZC6, Q91717, Q9JI03, Q9YIB4, P25940, Q28668, B8V7R6, O46392, O93484, P02453, P02454

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	229
Likely benign	19
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

9369 predictions. Top by Δscore:

Variant	Effect	Δscore
1:85745509:G:C	acceptor_gain	1.0000
1:85745509:G:GC	acceptor_gain	1.0000
1:85761394:A:AC	donor_gain	1.0000
1:85761395:C:CC	donor_gain	1.0000
1:85761395:CT:C	donor_gain	1.0000
1:85761525:A:AC	donor_gain	1.0000
1:85761526:C:CC	donor_gain	1.0000
1:85761526:CTCA:C	donor_gain	1.0000
1:85761529:A:AC	donor_gain	1.0000
1:85761530:C:CC	donor_gain	1.0000
1:85761565:CC:C	acceptor_gain	1.0000
1:85761566:CC:C	acceptor_gain	1.0000
1:85761567:CTGG:C	acceptor_loss	1.0000
1:85761568:T:A	acceptor_loss	1.0000
1:85783494:A:AC	donor_gain	1.0000
1:85783495:C:CC	donor_gain	1.0000
1:85783495:CT:C	donor_gain	1.0000
1:85784111:A:AC	donor_gain	1.0000
1:85784112:C:CC	donor_gain	1.0000
1:85784253:ACAT:A	donor_loss	1.0000
1:85784254:CAT:C	donor_loss	1.0000
1:85784255:ATAC:A	donor_loss	1.0000
1:85784256:TACAG:T	donor_loss	1.0000
1:85784257:A:AC	donor_gain	1.0000
1:85784258:C:CC	donor_gain	1.0000
1:85784258:CA:C	donor_gain	1.0000
1:85784258:CAGG:C	donor_gain	1.0000
1:85784362:TCACC:T	acceptor_gain	1.0000
1:85784363:CACC:C	acceptor_gain	1.0000
1:85784363:CACCC:C	acceptor_gain	1.0000

AlphaMissense

10914 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:85737447:G:C	C1577W	0.998
1:85737448:C:G	C1577S	0.998
1:85737449:A:T	C1577S	0.998
1:85744703:G:C	C1545W	0.998
1:85744704:C:G	C1545S	0.998
1:85744704:C:T	C1545Y	0.998
1:85744705:A:T	C1545S	0.998
1:85737448:C:T	C1577Y	0.997
1:85737449:A:G	C1577R	0.997
1:85744705:A:G	C1545R	0.997
1:85744704:C:A	C1545F	0.995
1:85734914:A:C	S1611R	0.994
1:85734914:A:T	S1611R	0.994
1:85734916:T:G	S1611R	0.994
1:85737448:C:A	C1577F	0.994
1:85730631:A:G	L1687P	0.993
1:85734927:A:G	L1607P	0.992
1:85737421:C:G	C1586S	0.992
1:85737422:A:G	C1586R	0.992
1:85737422:A:T	C1586S	0.992
1:85744695:A:G	L1548S	0.992
1:85734929:G:C	F1606L	0.991
1:85734929:G:T	F1606L	0.991
1:85734931:A:G	F1606L	0.991
1:85737490:T:C	D1563G	0.990
1:85737500:A:C	Y1560D	0.990
1:85737420:G:C	C1586W	0.989
1:85744731:C:T	G1536D	0.989
1:85737449:A:C	C1577G	0.988
1:85730553:A:C	F1713C	0.987

dbSNP variants (sampled 300 via entrez): RS1000002364 (1:85776733 A>C), RS1000008959 (1:85936211 G>A), RS1000014254 (1:85995842 C>T), RS1000033922 (1:85916406 C>T), RS1000036134 (1:85845495 A>G), RS1000041839 (1:86009137 A>C), RS1000061693 (1:85828879 T>C), RS1000079070 (1:85911351 A>G,T), RS1000082988 (1:85775083 T>C), RS1000083321 (1:85995827 C>G), RS1000089572 (1:85785908 A>C), RS1000100287 (1:86055820 C>T), RS1000100810 (1:85765364 A>G,T), RS1000105546 (1:86067569 G>T), RS1000129988 (1:85911738 C>T)

Disease associations

OMIM: gene MIM:610025 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Tourette syndrome	No Known Disease Relationship	Unknown

Mondo (2): prostate cancer (MONDO:0008315), Tourette syndrome (MONDO:0007661)

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

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST002595_13	Clozapine-induced agranulocytosis	2.000000e-06
GCST002829_12	Urate levels in overweight individuals	9.000000e-06
GCST003560_8	Coronary artery aneurysm in Kawasaki disease	2.000000e-06
GCST004842_1	Preterm birth (maternal effect) (maternal pre-pregnancy BMI interaction)	4.000000e-09
GCST005580_172	Intraocular pressure	1.000000e-08
GCST005580_288	Intraocular pressure	2.000000e-09
GCST006394_28	Intraocular pressure	6.000000e-14
GCST006412_11	Intraocular pressure	8.000000e-14
GCST007304_4	Reduced foot dorsiflexion strength in Charcot-Marie-Tooth disease type 1A	9.000000e-06
GCST009725_29	Intraocular pressure	6.000000e-14
GCST009847_3	Hallux valgus	2.000000e-06
GCST012226_1	Waist circumference adjusted for body mass index	3.000000e-11
GCST012226_417	Waist circumference adjusted for body mass index	6.000000e-10
GCST012228_3	Waist-hip index	5.000000e-08
GCST012489_89	Heel bone mineral density x serum urate levels interaction	7.000000e-09
GCST90000025_932	Appendicular lean mass	5.000000e-11
GCST90020024_16	A body shape index	3.000000e-09
GCST90020024_17	A body shape index	3.000000e-10
GCST90020024_18	A body shape index	3.000000e-09
GCST90020027_1786	Waist-hip index	4.000000e-08
GCST90020027_1787	Waist-hip index	1.000000e-08
GCST90020029_1258	Waist circumference adjusted for body mass index	1.000000e-12
GCST90020029_1259	Waist circumference adjusted for body mass index	8.000000e-10
GCST90020029_1260	Waist circumference adjusted for body mass index	3.000000e-10
GCST90020029_1261	Waist circumference adjusted for body mass index	3.000000e-10
GCST90020029_1362	Waist circumference adjusted for body mass index	1.000000e-08
GCST90020029_1363	Waist circumference adjusted for body mass index	6.000000e-09
GCST90020029_1364	Waist circumference adjusted for body mass index	1.000000e-08

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0003917	premature birth
EFO:0004340	body mass index
EFO:0005939	parental genotype effect measurement
EFO:0004695	intraocular pressure measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0009270	heel bone mineral density
EFO:0004980	appendicular lean mass

MeSH disease descriptors (2)

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
D005879	Tourette Syndrome	C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364188 (PROTEIN COMPLEX GROUP)

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	3
sodium arsenite	affects splicing, increases expression	2
Arsenic	affects methylation, increases methylation	2
Silicon Dioxide	increases expression, decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
bisphenol A	affects cotreatment, increases methylation	1
kojic acid	decreases expression	1
butyraldehyde	decreases expression	1
CGP 52608	increases reaction, affects binding	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00152750	PHASE4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824	PHASE4	TERMINATED	Safety Study of Galantamine in Tic Disorders
NCT00241176	PHASE4	COMPLETED	Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838	PHASE4	COMPLETED	Comparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056	PHASE4	COMPLETED	Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000	PHASE4	COMPLETED	Guanfacine in Children With Tic Disorders
NCT03239210	PHASE4	COMPLETED	Effects of Ondansetron in Obsessive-compulsive and Tic Disorders
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