COL5A3

Summary

COL5A3 (collagen type V alpha 3 chain, HGNC:14864) is a protein-coding gene on chromosome 19p13.2, encoding Collagen alpha-3(V) chain (P25940). Type V collagen is a member of group I collagen (fibrillar forming collagen).

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages.

Source: NCBI Gene 50509 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 359 total
• Phenotypes (HPO): 1
• Druggable target: yes
• MANE Select transcript: NM_015719

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14864
Approved symbol	COL5A3
Name	collagen type V alpha 3 chain
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000080573
Ensembl biotype	protein_coding
OMIM	120216
Entrez	50509

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron

ENST00000264828, ENST00000461214

RefSeq mRNA: 1 — MANE Select: NM_015719 NM_015719

CCDS: CCDS12222

Canonical transcript exons

ENST00000264828 — 67 exons

Exon	Start	End
ENSE00000414048	10003565	10003714
ENSE00000414065	9996066	9996119
ENSE00000576053	9989124	9989177
ENSE00000576055	9979132	9979239
ENSE00000675106	9978574	9978627
ENSE00000675138	9979364	9979417
ENSE00000675159	9979839	9979892
ENSE00000675216	9980648	9980692
ENSE00000675246	9980806	9980859
ENSE00000675267	9981088	9981132
ENSE00000675287	9982065	9982118
ENSE00000675304	9985842	9985895
ENSE00000675326	9989322	9989366
ENSE00000675338	9989469	9989522
ENSE00000675422	9991788	9991841
ENSE00000675493	9992004	9992048
ENSE00000675516	9992827	9992880
ENSE00000675538	9993023	9993067
ENSE00000675575	9993380	9993433
ENSE00000675615	9993619	9993672
ENSE00000872715	9995564	9995617
ENSE00000872720	9986553	9986606
ENSE00000872727	9978891	9978980
ENSE00000954322	9986714	9986758
ENSE00001060654	9993753	9993806
ENSE00001060669	9997984	9998025
ENSE00001060673	9991610	9991654
ENSE00001060679	9998102	9998149
ENSE00001135755	9960651	9960890
ENSE00001135765	9962819	9962887
ENSE00001135788	9967347	9967400
ENSE00001135793	9967904	9967939
ENSE00001135800	9968026	9968079
ENSE00001135814	9968675	9968728
ENSE00001135822	9969349	9969402
ENSE00001135830	9969575	9969682
ENSE00001135843	9970622	9970675
ENSE00001135851	9970975	9971028
ENSE00001135857	9971205	9971258
ENSE00001135871	9973570	9973623
ENSE00001135879	9973756	9973809
ENSE00001135885	9973919	9973972
ENSE00001135890	9974171	9974224
ENSE00001135906	9976558	9976611
ENSE00001135912	9977229	9977282
ENSE00001135917	9977365	9977472
ENSE00001135923	9977594	9977701
ENSE00001136143	10005558	10005714
ENSE00001136156	10006073	10006231
ENSE00001136170	9959561	9960557
ENSE00001188937	9996433	9996516
ENSE00001261182	10001524	10001670
ENSE00001261185	10001768	10001881
ENSE00001365828	9986315	9986422
ENSE00001366549	9966314	9966426
ENSE00001368708	9972919	9973026
ENSE00001373280	9974301	9974408
ENSE00001374338	9997371	9997433
ENSE00001388634	9969869	9969922
ENSE00001388852	9996615	9996689
ENSE00001389368	10005796	10005985
ENSE00001389578	10004041	10004145
ENSE00001391567	9996206	9996262
ENSE00001410341	9966536	9966746
ENSE00001415829	10010298	10010504
ENSE00001615960	9979994	9980047
ENSE00003475537	9968385	9968492

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 95.00.

FANTOM5 (CAGE): breadth broad, TPM avg 6.7498 / max 377.2416, expressed in 772 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179060	5.6386	742
179059	1.0089	303
179054	0.1023	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.00	gold quality
apex of heart	UBERON:0002098	93.43	gold quality
endocervix	UBERON:0000458	93.28	gold quality
nerve	UBERON:0001021	93.02	gold quality
tibial nerve	UBERON:0001323	93.02	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.52	gold quality
left uterine tube	UBERON:0001303	91.45	gold quality
omental fat pad	UBERON:0010414	91.15	gold quality
peritoneum	UBERON:0002358	91.08	gold quality
adipose tissue	UBERON:0001013	91.02	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.96	gold quality
putamen	UBERON:0001874	90.68	gold quality
ectocervix	UBERON:0012249	90.25	gold quality
amygdala	UBERON:0001876	90.23	gold quality
right frontal lobe	UBERON:0002810	90.17	gold quality
connective tissue	UBERON:0002384	90.05	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	89.66	gold quality
cingulate cortex	UBERON:0003027	89.17	gold quality
anterior cingulate cortex	UBERON:0009835	89.17	gold quality
body of uterus	UBERON:0009853	89.15	gold quality
caudate nucleus	UBERON:0001873	88.84	gold quality
heart left ventricle	UBERON:0002084	88.52	gold quality
cardiac ventricle	UBERON:0002082	88.06	gold quality
right atrium auricular region	UBERON:0006631	87.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.49	gold quality
olfactory bulb	UBERON:0002264	87.28	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.25	silver quality
cartilage tissue	UBERON:0002418	87.15	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.09	gold quality
skin of leg	UBERON:0001511	87.06	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	1667.15
E-HCAD-35	yes	65.76
E-ANND-3	yes	11.17

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPZ, NFYB, SP1, SP7

miRNA regulators (miRDB)

93 targeting COL5A3, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6883-5P	99.69	68.05	3785

Literature-anchored findings (GeneRIF, showing 4)

• analysis of processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer (PMID:15136578)
• CBF/NF-Y and two repressors regulate the core promoter of the human pro-alpha3(V) collagen gene (PMID:15316020)
• Absence of obvious disease-causing mutations and null alleles in a cohort of 13 patients with h-EDS is consistent with exclusion of COL5A3 as a candidate gene for this disease. (PMID:19012342)
• This study identified significant interaction between two new genes, COL5A3 and MMP9, which may be accounted for by a degradation of COL5A3 by MMP9 influencing eczema susceptibility (PMID:29168291)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Col5a3	ENSMUSG00000004098
rattus_norvegicus	Col5a3	ENSRNOG00000020525

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), 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), COL24A1 (ENSG00000171502), 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-3(V) chain — P25940 (reviewed: P25940)

All UniProt accessions (1): P25940

UniProt curated annotations — full annotation on UniProt →

Function. Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.

Subunit / interactions. Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Detected in fibroblasts (at protein level). Detected in urine (at protein level).

Post-translational modifications. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Similarity. Belongs to the fibrillar collagen family.

RefSeq proteins (1): NP_056534* (*=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
IPR050938	Collagen_Structural_Proteins	Family

Pfam: PF01391, PF01410

UniProt features (51 total): compositionally biased region 18, domain 8, sequence variant 8, region of interest 6, disulfide bond 5, glycosylation site 3, signal peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P25940-F1	51.26	0.12

Functional residue map

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

Disulfide bonds (5): 1544, 1567, 1576, 1585–1742, 1651–1696

Glycosylation sites (3): 102, 141, 349

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-1442490	Collagen degradation
R-HSA-1566977	Fibronectin matrix formation
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-186797	Signaling by PDGF
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-216083	Integrin cell surface interactions
R-HSA-3000170	Syndecan interactions
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-419037	NCAM1 interactions
R-HSA-8874081	MET activates PTK2 signaling
R-HSA-8948216	Collagen chain trimerization
R-HSA-9638630	Attachment of bacteria to epithelial cells
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells

MSigDB gene sets: 197 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, AP1_01, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOCC_COLLAGEN_TRIMER, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, SASAI_RESISTANCE_TO_NEOPLASTIC_TRANSFROMATION, LU_TUMOR_VASCULATURE_UP, MCLACHLAN_DENTAL_CARIES_DN

GO Biological Process (3): cell-matrix adhesion (GO:0007160), collagen fibril organization (GO:0030199), skin development (GO:0043588)

GO Molecular Function (5): extracellular matrix structural constituent (GO:0005201), collagen binding (GO:0005518), heparin binding (GO:0008201), extracellular matrix structural constituent conferring tensile strength (GO:0030020), proteoglycan binding (GO:0043394)

GO Cellular Component (5): extracellular region (GO:0005576), collagen type V trimer (GO:0005588), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), collagen trimer (GO:0005581)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Extracellular matrix organization	4
Collagen formation	2
Degradation of the extracellular matrix	1
Signaling by Receptor Tyrosine Kinases	1
Non-integrin membrane-ECM interactions	1
NCAM signaling for neurite out-growth	1
MET promotes cell motility	1
Collagen biosynthesis and modifying enzymes	1
Biofilm formation	1
Developmental Cell Lineages of the Exocrine Pancreas	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-substrate adhesion	1
extracellular matrix organization	1
animal organ development	1
structural molecule activity	1
extracellular matrix	1
protein-containing complex binding	1
glycosaminoglycan binding	1
sulfur compound binding	1
extracellular matrix structural constituent	1
protein binding	1
carbohydrate derivative binding	1
cellular anatomical structure	1
fibrillar collagen trimer	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
protein-containing complex	1

Protein interactions and networks

STRING

1470 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL5A3	FN1	P02751	538
COL5A3	ITGB5	P18084	535
COL5A3	TSC1	Q92574	523
COL5A3	ITGAV	P06756	517
COL5A3	COL6A1	P12109	517
COL5A3	COL4A2	P08572	510
COL5A3	COL16A1	Q07092	501
COL5A3	COL12A1	Q99715	500
COL5A3	COL5A2	P05997	493
COL5A3	COL4A1	P02462	486
COL5A3	ITGB3	P05106	482
COL5A3	COL27A1	Q8IZC6	465
COL5A3	COL3A1	P02461	457
COL5A3	COL13A1	Q5TAT6	440
COL5A3	COL5A1	P20908	427
COL5A3	COL4A3	Q01955	427

IntAct

2 interactions, top by confidence:

A	B	Type	Score
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): COL5A3 (Proximity Label-MS), COL5A3 (Affinity Capture-MS), COL5A3 (Affinity Capture-MS), COL5A3 (Affinity Capture-MS), COL5A3 (Affinity Capture-MS), RANBP1 (Cross-Linking-MS (XL-MS)), HMGN2 (Cross-Linking-MS (XL-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: B8V7R6, O42350, O46392, O88207, O93484, P02452, P02453, P02454, P02457, P02458, P02459, P02460, P02461, P02465, P02466, P02467, P05539, P05997, P08121, P08123, P11087, P12105, P12107, P13941, P13942, P18856, P20908, P20909, P25940, P28481, Q01149, Q28668, Q3U962, Q60467, Q61245, Q64739, Q6P4Z2, Q91717, Q9JI03, Q9XSJ7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	266
Likely benign	24
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

6730 predictions. Top by Δscore:

Variant	Effect	Δscore
19:10001518:ACTC:A	donor_loss	1.0000
19:10001519:CTCA:C	donor_loss	1.0000
19:10001520:TCACA:T	donor_loss	1.0000
19:10001521:CACA:C	donor_loss	1.0000
19:10001522:A:AC	donor_gain	1.0000
19:10001522:A:T	donor_loss	1.0000
19:10001523:C:CA	donor_loss	1.0000
19:10001523:C:CC	donor_gain	1.0000
19:10001678:CGT:C	acceptor_gain	1.0000
19:10001680:T:TC	acceptor_gain	1.0000
19:10004034:CACT:C	donor_loss	1.0000
19:10004035:ACTC:A	donor_loss	1.0000
19:10004037:TCA:T	donor_loss	1.0000
19:10004038:CAC:C	donor_loss	1.0000
19:10004039:A:AC	donor_gain	1.0000
19:10004039:A:C	donor_loss	1.0000
19:10004040:C:CC	donor_gain	1.0000
19:10004040:CCA:C	donor_gain	1.0000
19:10004142:CTCC:C	acceptor_gain	1.0000
19:10004144:CC:C	acceptor_gain	1.0000
19:10004145:CC:C	acceptor_gain	1.0000
19:10005552:TCCTA:T	donor_loss	1.0000
19:10005553:CCTAC:C	donor_loss	1.0000
19:10005554:CTA:C	donor_loss	1.0000
19:10005555:TA:T	donor_loss	1.0000
19:10005556:A:C	donor_loss	1.0000
19:10005557:CCTCG:C	donor_loss	1.0000
19:10005711:CCAC:C	acceptor_gain	1.0000
19:10005712:CAC:C	acceptor_gain	1.0000
19:10005712:CACC:C	acceptor_gain	1.0000

AlphaMissense

10955 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:9960655:C:G	C1696S	0.998
19:9960656:A:T	C1696S	0.998
19:9962870:C:A	W1600C	0.998
19:9962870:C:G	W1600C	0.998
19:9960442:A:G	F1736S	0.997
19:9960656:A:G	C1696R	0.996
19:9960790:C:G	C1651S	0.996
19:9960791:A:T	C1651S	0.996
19:9966369:C:G	C1576S	0.996
19:9966370:A:T	C1576S	0.996
19:9960789:G:C	C1651W	0.995
19:9962845:A:C	Y1609D	0.995
19:9966369:C:T	C1576Y	0.995
19:9960654:G:C	C1696W	0.994
19:9960790:C:T	C1651Y	0.994
19:9962872:A:G	W1600R	0.994
19:9962872:A:T	W1600R	0.994
19:9966368:G:C	C1576W	0.994
19:9966573:G:C	C1544W	0.994
19:9966574:C:G	C1544S	0.994
19:9966575:A:T	C1544S	0.994
19:9960441:A:C	F1736L	0.993
19:9960441:A:T	F1736L	0.993
19:9960442:A:C	F1736C	0.993
19:9960443:A:G	F1736L	0.993
19:9960655:C:T	C1696Y	0.993
19:9960791:A:G	C1651R	0.993
19:9960808:T:G	Q1645P	0.993
19:9966574:C:T	C1544Y	0.993
19:9985867:C:T	G794D	0.993

dbSNP variants (sampled 300 via entrez): RS1000049048 (19:9987860 G>A), RS1000146469 (19:9971975 C>T), RS1000227999 (19:9997305 C>T), RS1000488822 (19:9998712 T>A,G), RS1000503082 (19:9977613 G>A), RS1000608595 (19:9961766 G>A,C), RS1000632339 (19:9972368 T>C), RS1000645119 (19:9983293 G>A), RS1000679088 (19:10008183 A>T), RS1000725464 (19:9972144 C>T), RS1000789008 (19:9996962 GAGACAGAGAGAGAT>G), RS1000845487 (19:9982622 A>G), RS1000913808 (19:9972566 G>A,T), RS1000917709 (19:9966555 G>A,T), RS1000958173 (19:9961974 T>A)

Disease associations

OMIM: gene MIM:120216 | disease phenotypes: MIM:303350, MIM:148300

GenCC curated gene-disease

Mondo (3): breast ductal adenocarcinoma (MONDO:0005590), hereditary spastic paraplegia (MONDO:0019064), keratoconus (MONDO:0015486)

Orphanet (3): Hereditary spastic paraplegia (Orphanet:685), OBSOLETE: Keratoconus (Orphanet:156071), NON RARE IN EUROPE: Isolated keratoconus (Orphanet:2335)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000563	Keratoconus

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D007640	Keratoconus	C11.204.627
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	6
trichostatin A	increases expression, affects cotreatment	4
Benzo(a)pyrene	affects methylation, decreases expression, increases mutagenesis	3
sodium arsenite	increases expression	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
sotorasib	affects cotreatment, increases expression	1
bisphenol A	increases expression	1
aflatoxin B2	affects methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
diallyl trisulfide	decreases expression	1
Am 580	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
jinfukang	decreases expression, affects cotreatment	1
trametinib	increases expression, affects cotreatment	1
NVP-BKM120	increases expression, affects cotreatment	1
bisphenol AF	increases expression	1
Rosiglitazone	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Diphosphonates	decreases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	increases expression, decreases reaction	1
Methyl Methanesulfonate	decreases expression	1
Phthalic Acids	affects methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT01485211	PHASE4	COMPLETED	Corneal Thickness Changes During Corneal Collagen Cross-linking With Ultraviolet-A Irradiation and Riboflavin
NCT02119039	PHASE4	COMPLETED	Effect of CACICOL20 on Corneal Epithelial Healing After Cross-linking in Patients With Keratoconus
NCT03245853	PHASE4	COMPLETED	Epi-On Corneal Crosslinking for Keratoconus
NCT03429569	PHASE4	UNKNOWN	Cross-Linking ACcéléré Iontophorèse Confocal kératocONE
NCT04427956	PHASE4	COMPLETED	Corneal Crosslinking Treatment Study
NCT07474870	PHASE4	NOT_YET_RECRUITING	Outcomes of CTAK Surgery
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00371202	PHASE3	UNKNOWN	Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus
NCT00647699	PHASE3	COMPLETED	Corneal Collagen Cross-linking for Progressive Keratoconus
NCT00815256	PHASE3	UNKNOWN	Safety and Effectiveness of Collagen Cross Linking in Progressive Mild and Moderate Keratoconus
NCT00887900	PHASE3	COMPLETED	Deep Anterior Lamellar Keratoplasty (DALK)
NCT01112072	PHASE3	UNKNOWN	Corneal Collagen Crosslinking and Intacs for Keratoconus and Ectasia
NCT01152541	PHASE3	UNKNOWN	Corneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin
NCT01190306	PHASE3	TERMINATED	Safety Study of the VEGA UV-A System to Treat Keratoconus
NCT01344187	PHASE3	COMPLETED	Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT01459679	PHASE3	TERMINATED	Safety & Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery
NCT01464268	PHASE3	UNKNOWN	Transepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia
NCT01604135	PHASE3	ACTIVE_NOT_RECRUITING	Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial
NCT01643226	PHASE3	COMPLETED	Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT01672814	PHASE3	COMPLETED	Microwave Treatment and Corneal Collagen Crosslinking for Keratoconus
NCT01682993	PHASE3	TERMINATED	Corneal Cross Linking and Topography Guided Excimer Laser Treatment
NCT01972854	PHASE3	TERMINATED	Safety and Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT02613780	PHASE3	UNKNOWN	Refractive Treatment of Early Keratoconus
NCT02638376	PHASE3	UNKNOWN	Evaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus
NCT03080077	PHASE3	UNKNOWN	Safety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia
NCT03187912	PHASE3	COMPLETED	Accelerated Corneal Cross-linking With Different Riboflavin Solutions
NCT03442751	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus
NCT03858036	PHASE3	UNKNOWN	Corneal Collagen Cross-Linking (CXL) Performed With Epi-ON Versus Epi-OFF in Eyes With Keratoconus and Other Corneal Ectatic Disorders
NCT04897503	PHASE3	UNKNOWN	Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Riboflavin/Dextran or Riboflavin/Methylcellulose
NCT04905108	PHASE3	UNKNOWN	Transepithelial (Epi-on) Corneal Collagen Crosslinking to Treat Keratoconus and Corneal Ectasia
NCT05027295	PHASE3	UNKNOWN	Accelerated Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Pulse or Continuous UV-A Light
NCT06100939	PHASE3	ACTIVE_NOT_RECRUITING	Epithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age With Keratoconus
NCT06100952	PHASE3	ACTIVE_NOT_RECRUITING	Epithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age with Keratoconus
NCT06450470	PHASE3	RECRUITING	Use of a Freeze-dried Amniotic Membrane Post Crosslinking in Subjects With Progressive Keratoconus
NCT06601101	PHASE3	RECRUITING	Effects of Topical Insulin on Corneal Epithelium Healing After Corneal Crosslinking in Patients With Keratoconus
NCT07124910	PHASE3	RECRUITING	Comparison of Epi-ON Corneal Collagen Crosslinking Performed Using an 18-Minute UVA Exposure vs. a 24-Minute UVA Exposure on Eyes With Ectatic Corneal Diseases
NCT07135167	PHASE3	RECRUITING	Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer