COL5A1

Summary

COL5A1 (collagen type V alpha 1 chain, HGNC:2209) is a protein-coding gene on chromosome 9q34.3, encoding Collagen alpha-1(V) chain (P20908). Type V collagen is a member of group I collagen (fibrillar forming collagen). It is haploinsufficient (ClinGen: sufficient evidence).

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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 1289 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Ehlers-Danlos syndrome, classic type (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 29
• Clinical variants (ClinVar): 4,020 total — 239 pathogenic, 103 likely-pathogenic
• Phenotypes (HPO): 106
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000093

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2209
Approved symbol	COL5A1
Name	collagen type V alpha 1 chain
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000130635
Ensembl biotype	protein_coding
OMIM	120215
Entrez	1289

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000371817, ENST00000371820, ENST00000460264, ENST00000463925, ENST00000464187, ENST00000465877, ENST00000469093, ENST00000950240

RefSeq mRNA: 2 — MANE Select: NM_000093 NM_000093, NM_001278074

CCDS: CCDS6982, CCDS75932

Canonical transcript exons

ENST00000371817 — 66 exons

Exon	Start	End
ENSE00001096530	134829976	134830044
ENSE00001191284	134641803	134642296
ENSE00001601124	134811339	134811392
ENSE00001604658	134798408	134798461
ENSE00001604675	134789155	134789208
ENSE00001606466	134763693	134763737
ENSE00001609987	134802888	134802995
ENSE00001610158	134795082	134795126
ENSE00001610762	134738474	134738515
ENSE00001610977	134822097	134822150
ENSE00001612894	134806189	134806296
ENSE00001612975	134809183	134809290
ENSE00001621867	134738746	134738808
ENSE00001626599	134727266	134727397
ENSE00001633601	134810255	134810308
ENSE00001638324	134812605	134812712
ENSE00001642783	134812449	134812502
ENSE00001643672	134796374	134796418
ENSE00001645745	134805161	134805214
ENSE00001655385	134761925	134761978
ENSE00001656953	134754273	134754326
ENSE00001657240	134811492	134811599
ENSE00001658157	134796848	134796901
ENSE00001668386	134731496	134731663
ENSE00001676930	134782667	134782720
ENSE00001677197	134752589	134752645
ENSE00001679174	134768410	134768463
ENSE00001683765	134753850	134753903
ENSE00001687147	134780102	134780146
ENSE00001688188	134774859	134774912
ENSE00001691616	134728670	134728807
ENSE00001692959	134767310	134767354
ENSE00001705181	134801954	134802007
ENSE00001707312	134766454	134766498
ENSE00001709109	134758243	134758296
ENSE00001709465	134732071	134732127
ENSE00001714785	134820116	134820223
ENSE00001722961	134784989	134785096
ENSE00001725424	134750790	134750882
ENSE00001730929	134730236	134730475
ENSE00001732370	134804975	134805064
ENSE00001744103	134819000	134819053
ENSE00001749345	134822998	134823033
ENSE00001755928	134756765	134756818
ENSE00001764753	134785995	134786048
ENSE00001776421	134795262	134795315
ENSE00001782057	134765681	134765734
ENSE00001801127	134750542	134750616
ENSE00001806089	134772790	134772834
ENSE00002327096	134814797	134814904
ENSE00002329175	134818848	134818901
ENSE00002333295	134817778	134817831
ENSE00002333390	134815935	134815988
ENSE00002346031	134813983	134814036
ENSE00002371198	134767000	134767053
ENSE00002402033	134817026	134817079
ENSE00002417506	134818656	134818763
ENSE00002427575	134815576	134815629
ENSE00003470945	134823416	134823469
ENSE00003486546	134825792	134825904
ENSE00003527476	134824600	134824855
ENSE00003588732	134690912	134691079
ENSE00003609836	134701171	134701333
ENSE00003666555	134699909	134700122
ENSE00003751742	134842157	134844843
ENSE00003788794	134834971	134835204

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 99.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.8543 / max 1160.8469, expressed in 1302 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99352	48.9191	1285
99351	1.7059	712
99394	0.8477	412
99350	0.6263	352
99357	0.4322	261
99354	0.3231	170

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.64	gold quality
periodontal ligament	UBERON:0008266	99.43	gold quality
tendon of biceps brachii	UBERON:0008188	98.96	gold quality
endocervix	UBERON:0000458	98.34	gold quality
tibia	UBERON:0000979	98.21	gold quality
cartilage tissue	UBERON:0002418	98.18	gold quality
body of uterus	UBERON:0009853	98.06	gold quality
sural nerve	UBERON:0015488	97.96	gold quality
skin of hip	UBERON:0001554	97.83	gold quality
myometrium	UBERON:0001296	97.61	gold quality
left uterine tube	UBERON:0001303	97.50	gold quality
mucosa of stomach	UBERON:0001199	97.43	gold quality
right coronary artery	UBERON:0001625	97.00	gold quality
gall bladder	UBERON:0002110	96.70	gold quality
smooth muscle tissue	UBERON:0001135	96.60	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.06	gold quality
right ovary	UBERON:0002118	96.02	gold quality
ascending aorta	UBERON:0001496	95.93	gold quality
thoracic aorta	UBERON:0001515	95.89	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.76	gold quality
decidua	UBERON:0002450	95.74	gold quality
descending thoracic aorta	UBERON:0002345	95.70	gold quality
ectocervix	UBERON:0012249	95.56	gold quality
uterus	UBERON:0000995	95.47	gold quality
left ovary	UBERON:0002119	95.46	gold quality
visceral pleura	UBERON:0002401	95.25	gold quality
tibial nerve	UBERON:0001323	94.94	gold quality
placenta	UBERON:0001987	94.88	gold quality
aorta	UBERON:0000947	94.78	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.72	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-HCAD-24	yes	1622.28
E-MTAB-8410	yes	1086.70
E-MTAB-10662	yes	544.48
E-GEOD-81608	yes	278.36
E-MTAB-8530	yes	229.83
E-MTAB-10287	yes	119.88
E-MTAB-6701	yes	66.45
E-HCAD-10	yes	40.94
E-MTAB-6678	yes	26.55
E-ANND-3	yes	24.81
E-CURD-112	yes	18.34
E-MTAB-5061	yes	12.24
E-GEOD-83139	yes	7.55
E-ENAD-27	yes	7.31
E-MTAB-7037	no	530.27

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1, SP7

miRNA regulators (miRDB)

144 targeting COL5A1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. (PMID:12145749)
• Antisense oligonucleotides reduced synthesis of type V procollagen alpha1 chain. In addition, both antisense oligonucleotides partially reduced type V procollagen alpha1 chain mRNA expression. (PMID:14504037)
• fibroblasts from Ehlers-Danlos syndrome patients, with mutations in COL5A1 and COL3A1, synthesize aberrant types V and III collagen and show defective organization of these proteins into the extracellular matrix and reduction of alpha(2)beta(1) integrin (PMID:14970208)
• analysis of processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer (PMID:15136578)
• Finds the COL5A1 BstUI RFLP associated with Achilles tendon pathology and more specifically, chronic ATP. (PMID:16430677)
• In the eye, COL5A1 and COL5A2 mutations manifest as abnormally thin and steep corneas with floppy eyelids. (PMID:16431952)
• Collagen type V alpha 1 was efficiently cleaved by BMP-1 indicating that the triple helix is not required for enzyme activity. (PMID:17407447)
• Data suggest that IL-17-dependent cellular immunity to collagen type V predisposes to obliterative bronchiolitis in human lung transplants. (PMID:17965778)
• Mutations in the genes encoding for type V collagen have been found in the classical type of Ehlers-Danlos syndrome (EDS); the most common mutations lead to a non-functional COL5A1 allele. (PMID:18305566)
• Mutations in the signal peptide (SP) domain of the preproa1(V)-collagen chain cause classic Ehlers-Danlos syndrome. (PMID:18972565)
• Variants within the MMP3 gene are associated with Achilles tendinopathy and the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. (PMID:19042922)
• Investigates the association of sequence variants within COL5A1 and musculotendinous range of motion. Data suggest that the COL5A1 BstUI RFLP is independently associated with lower limb ROM. (PMID:19422640)
• Antisense RNA was effective in downregulating alpha1 collagen expression of HSFs. (PMID:19426620)
• The CC genotype of the COL5A1 BstUI RFLP was underrepresented in female participants with anterior cruciate ligament ruptures. (PMID:19654427)
• The authors found no interaction between the matrix metallopeptidase 3 rs679620 variant, the COL5A1 BstUI restriction fragment length polymorphism and range of motion measurements. (PMID:20359947)
• The formation of alpha1(V) homotrimers was considerably favored over the heterotrimer alpha1(V)alpha2(V). (PMID:20625483)
• Heterozygous mutations in COL3A1 is associated with arterial rupture in classic Ehlers-Danlos syndrome. (PMID:20635400)
• GWAS summary data, COL5A1 was genome-wide significant (beta = 0.13 SD, P = 5.1 x 10(-8)), together with two additional novel loci. The second new locus (defined by rs1034200) was 5 kb from the AVGR8 gene (PMID:20719862)
• This is the first study to identify the COL5A1 BstUI RFLP as a marker for endurance running performance. (PMID:20798666)
• role of mutations in Ehlers-Danlos syndrome (Review) (PMID:20847697)
• Increased expression of type I and type V collagen might play a role in the pathogenesis of uterine leiomyoma. (PMID:21215393)
• The association between COL5A1 BstUI RFLP and sit and reach (SR) ROM in an apparently healthy and physically active cohort was investigated. The COL5A1 BstUI RFLP was found to be associated with SR ROM, particularly with increasing age. (PMID:21362053)
• Tendinopathic phenotype is associated with increased COL5A1 mRNA stability. (PMID:21609763)
• phenotypes associated directly or indirectly with the mechanical properties of musculoskeletal soft tissue [review] (PMID:21697718)
• The COL5A1 genotype was found to be significantly associated with performance in a 56 km ultra-endurance run. The COL5A1 gene may alter muscle-tendon stiffness. (PMID:21934170)
• Before bronchiolitis obliterans, lung transplantation patients had antibodies to Col-V,alpha1(V) & alpha2(V) but at clinical diagnosis of BOS, antibodies were restricted to alpha1(V). Lung biopsy indicating that alpha1(V)epitopes are exposed. (PMID:22132895)
• This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous preterm delivery. (PMID:22208904)
• collagen V may be expressed in skin as different subtypes with important but distinct roles in matrix organization and stability. (PMID:22437311)
• study shows that over 90% of patients, which strictly satisfy all major Villefranche criteria for classic Ehlers-Danlos Syndrome (EDS)harbor a type V collagen defect which indicates that this is the major–if not only–cause of classic EDS (PMID:22696272)
• Single nucleotide polymorphisms in COL5A1 gene is associated with central corneal thickness in glaucoma. (PMID:22814818)
• An large number of hydroxyproline residues were mapped to the X-positions of Gly-X-Y triplets of the alpha1(V) collagen chain. (PMID:23060441)
• The COL5A1 3’-UTR markers rs71746744, rs16399 and rs1134170 are associated with chronic Achilles tendinopathy. (PMID:23347277)
• SNPs in the COL5A1 region, which regulate normal variation in CCT, may play a role in the thinning associated with keratoconus. (PMID:23513063)
• Authors demonstrate that CbpA is expressed on the bacterial surface of Clostridium difficile and that the protein binds at high affinity to collagens I and V (apparent Kd in the order of 10(-9 ) M). (PMID:23517059)
• data confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in classic Ehlers-danlos syndrome (PMID:23587214)
• results show that this gene interacts collagen x1 encoded genes to modulate the risk for AT (PMID:23624467)
• Provide evidence for a relationship between COL5A1, running performance, and joint range of motion. (PMID:24085259)
• Gal-1 decreased the expression of collagen genes COL3A1 and COL5A1 but increased the expression of fibronectin and laminin 5. (PMID:24503541)
• Tendon properties do not seem to be influenced by the COL5A1 rs12722 gene variant. (PMID:24643429)
• variants within the functional COL5A1 3’-untranslated region are associated with idiopathic carpal tunnel syndrome (PMID:24966028)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	col5a1	ENSDARG00000012593
mus_musculus	Col5a1	ENSMUSG00000026837
rattus_norvegicus	Col5a1	ENSRNOG00000008749

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), 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-1(V) chain — P20908 (reviewed: P20908)

All UniProt accessions (2): P20908, H7BY82

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. Interacts with CSPG4.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

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. Sulfated on 40% of tyrosines.

Disease relevance. Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Fibromuscular dysplasia, multifocal (FMDMF) [MIM:619329] An autosomal dominant vascular disorder with incomplete penetrance, characterized by fibrous tissue and webs developing in the artery wall and leading to multiple arterial stenoses. Patients with multifocal fibromuscular dysplasia can develop arterial tortuosity, macroaneurysms, and dissections. Arterial rupture may occur. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.

Similarity. Belongs to the fibrillar collagen family.

Isoforms (2)

UniProt ID	Names	Canonical?
P20908-1	1, A	yes
P20908-2	2, B

RefSeq proteins (2): NP_000084, NP_001265003 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000885	Fib_collagen_C	Domain
IPR001791	Laminin_G	Domain
IPR008160	Collagen	Repeat
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR048287	TSPN-like_N	Domain
IPR050149	Collagen_superfamily	Family

Pfam: PF01391, PF01410, PF02210

UniProt features (165 total): modified residue 73, compositionally biased region 28, sequence conflict 21, sequence variant 18, region of interest 9, disulfide bond 5, binding site 5, domain 2, signal peptide 1, chain 1, splice variant 1, propeptide 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7Y37	X-RAY DIFFRACTION	1.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20908-F1	52.54	0.19

Functional residue map

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

Ligand- & substrate-binding residues (5): 1657; 1659; 1660; 1662; 1665

Post-translational modifications (73): 873, 876, 882, 888, 891, 897, 903, 906, 930, 945, 1017, 1020, 1023, 1029, 1221, 1224, 1467, 1470, 1601, 1604 …

Disulfide bonds (5): 1639–1671, 1645, 1662, 1680–1835, 1746–1789

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: 584 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, LOPEZ_MESOTHELIOMA_SURVIVAL_DN, GOBP_EPITHELIUM_DEVELOPMENT, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, HARRIS_HYPOXIA, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOCC_COLLAGEN_TRIMER, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH

GO Biological Process (13): blood vessel development (GO:0001568), heart morphogenesis (GO:0003007), cell adhesion (GO:0007155), cell migration (GO:0016477), collagen fibril organization (GO:0030199), collagen biosynthetic process (GO:0032964), wound healing, spreading of epidermal cells (GO:0035313), tendon development (GO:0035989), skin development (GO:0043588), integrin biosynthetic process (GO:0045112), eye morphogenesis (GO:0048592), supramolecular fiber organization (GO:0097435), negative regulation of endodermal cell differentiation (GO:1903225)

GO Molecular Function (8): integrin binding (GO:0005178), heparin binding (GO:0008201), extracellular matrix structural constituent conferring tensile strength (GO:0030020), proteoglycan binding (GO:0043394), metal ion binding (GO:0046872), platelet-derived growth factor binding (GO:0048407), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (8): extracellular region (GO:0005576), collagen type V trimer (GO:0005588), collagen type XI trimer (GO:0005592), basement membrane (GO:0005604), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), collagen trimer (GO:0005581), fibrillar collagen trimer (GO:0005583)

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
extracellular matrix	2
fibrillar collagen trimer	2
vasculature development	1
anatomical structure development	1
heart development	1
animal organ morphogenesis	1
cellular process	1
cell motility	1
extracellular matrix organization	1
biosynthetic process	1
collagen metabolic process	1
wound healing, spreading of cells	1
connective tissue development	1
animal organ development	1
plasma membrane organization	1
macromolecule biosynthetic process	1
eye development	1
sensory organ morphogenesis	1
cellular component organization	1
endodermal cell differentiation	1
negative regulation of cell differentiation	1
regulation of endodermal cell differentiation	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
glycosaminoglycan binding	1
sulfur compound binding	1
extracellular matrix structural constituent	1
protein binding	1
carbohydrate derivative binding	1
cation binding	1
growth factor binding	1
structural molecule activity	1
binding	1
cellular anatomical structure	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
protein-containing complex	1
collagen trimer	1

Protein interactions and networks

STRING

2464 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL5A1	COL5A2	P05997	928
COL5A1	COL1A1	P02452	880
COL5A1	COL1A2	P02464	864
COL5A1	FBN1	P35555	850
COL5A1	TNXB	P22105	774
COL5A1	ZNF79	Q15937	752
COL5A1	COL3A1	P02461	731
COL5A1	DDR2	Q16832	723
COL5A1	PCOLCE	Q15113	721
COL5A1	COL4A1	P02462	715
COL5A1	FN1	P02751	704
COL5A1	DDR1	Q08345	704
COL5A1	ZNF469	Q96JG9	692
COL5A1	LAMC1	P11047	682
COL5A1	COL4A2	P08572	670

IntAct

70 interactions, top by confidence:

A	B	Type	Score
COL5A1	MMP2	psi-mi:“MI:0915”(physical association)	0.780
MMP2	COL5A1	psi-mi:“MI:0915”(physical association)	0.780
MMP9	TIMP1	psi-mi:“MI:0914”(association)	0.640
MMP2	COL4A1	psi-mi:“MI:0914”(association)	0.640
PTPN2	COL5A1	psi-mi:“MI:0915”(physical association)	0.590
BMP1	COL5A1	psi-mi:“MI:0407”(direct interaction)	0.540
BMP1	COL5A1	psi-mi:“MI:0915”(physical association)	0.540
COL5A1	PCOLCE	psi-mi:“MI:0407”(direct interaction)	0.530
PRSS23	COL5A1	psi-mi:“MI:0914”(association)	0.530
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
PLOD3	PLOD2	psi-mi:“MI:0914”(association)	0.530
COL5A1	PCOLCE	psi-mi:“MI:0915”(physical association)	0.530
COL5A1	FN1	psi-mi:“MI:0915”(physical association)	0.510
COL5A1	TIMP1	psi-mi:“MI:0915”(physical association)	0.510
COL5A1	TNC	psi-mi:“MI:0915”(physical association)	0.510
FN1	COL5A1	psi-mi:“MI:0915”(physical association)	0.510
TNC	COL5A1	psi-mi:“MI:0915”(physical association)	0.510
COL5A1	SUGP2	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
COL5A1	TGFB1	psi-mi:“MI:0915”(physical association)	0.370
COL1A1	COL5A1	psi-mi:“MI:0915”(physical association)	0.370
COL1A2	COL5A1	psi-mi:“MI:0915”(physical association)	0.370
COL5A1	COL6A1	psi-mi:“MI:0915”(physical association)	0.370
COL6A2	COL5A1	psi-mi:“MI:0915”(physical association)	0.370
COL6A3	COL5A1	psi-mi:“MI:0915”(physical association)	0.370
TGFB1	COL5A1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (66): COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (Affinity Capture-MS), COL5A1 (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, B8V7R6, O46392, O93484, P02453, P02454, P02465, P02467

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BMP1	“up-regulates activity”	COL5A1	cleavage

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 74 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
Collagen biosynthesis and modifying enzymes	18	55.8×	3e-25
Collagen chain trimerization	11	51.9×	7e-15
Fibronectin matrix formation	5	51.9×	1e-06
Crosslinking of collagen fibrils	5	51.9×	1e-06
Assembly of collagen fibrils and other multimeric structures	12	43.7×	3e-15
Collagen degradation	13	41.5×	4e-16
Syndecan interactions	5	38.5×	5e-06
MET activates PTK2 signaling	5	34.6×	9e-06

GO biological processes:

GO term	Partners	Fold	FDR
collagen biosynthetic process	5	86.3×	1e-06
endodermal cell differentiation	5	40.6×	3e-05
collagen fibril organization	10	36.8×	1e-10
cellular response to amino acid stimulus	5	25.1×	2e-04
regulation of cell migration	5	12.9×	2e-03
skeletal system development	6	12.4×	9e-04
osteoblast differentiation	5	9.9×	6e-03
cell adhesion	9	5.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

4020 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	239
Likely pathogenic	103
Uncertain significance	1052
Likely benign	1509
Benign	436

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1012635	NM_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys)	Pathogenic
1059268	NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg)	Pathogenic
1068592	NC_000009.11:g.(?137534024)(137620663_?)del	Pathogenic
1068593	NC_000009.11:g.(?137582748)(137677904_?)del	Pathogenic
1069321	NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer)	Pathogenic
1070542	NM_000093.5(COL5A1):c.4088del (p.Gly1363fs)	Pathogenic
1070824	NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter)	Pathogenic
1071309	NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter)	Pathogenic
1071310	NM_000093.5(COL5A1):c.3905del (p.Pro1302fs)	Pathogenic
1071412	NM_000093.5(COL5A1):c.4282del (p.Gln1428fs)	Pathogenic
1072377	NM_000093.5(COL5A1):c.321del (p.Ala108fs)	Pathogenic
1072661	NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs)	Pathogenic
1073542	NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs)	Pathogenic
1075190	NM_000093.5(COL5A1):c.2730dup (p.Gln911fs)	Pathogenic
1075434	NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs)	Pathogenic
1076742	NC_000009.11:g.(?137593011)(137727056_?)del	Pathogenic
1076743	NC_000009.11:g.(?137619102)(137698152_?)dup	Pathogenic
1076744	NC_000009.11:g.(?_137645560)_137650136del	Pathogenic
1076970	NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter)	Pathogenic
1187839	NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs)	Pathogenic
1324126	NM_000093.5(COL5A1):c.3271G>T (p.Glu1091Ter)	Pathogenic
1356121	NM_000093.5(COL5A1):c.1937_1946del	Pathogenic
1360046	NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter)	Pathogenic
1361188	NM_000093.5(COL5A1):c.1727del (p.Pro576fs)	Pathogenic
1381199	NM_000093.5(COL5A1):c.1A>G (p.Met1Val)	Pathogenic
1392028	NM_000093.5(COL5A1):c.786+5G>A	Pathogenic
1402270	NM_000093.5(COL5A1):c.1630del (p.Ser544fs)	Pathogenic
1403805	NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs)	Pathogenic
1413473	NM_000093.5(COL5A1):c.1728del (p.Ser578fs)	Pathogenic
1438499	NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter)	Pathogenic

SpliceAI

11519 predictions. Top by Δscore:

Variant	Effect	Δscore
9:134690905:A:AG	acceptor_gain	1.0000
9:134690908:TCA:T	acceptor_loss	1.0000
9:134690910:A:AG	acceptor_gain	1.0000
9:134690910:AGCTC:A	acceptor_loss	1.0000
9:134690911:G:GA	acceptor_gain	1.0000
9:134690911:GC:G	acceptor_gain	1.0000
9:134690911:GCT:G	acceptor_gain	1.0000
9:134690911:GCTC:G	acceptor_gain	1.0000
9:134690911:GCTCA:G	acceptor_gain	1.0000
9:134691076:CCTG:C	donor_gain	1.0000
9:134691076:CCTGG:C	donor_loss	1.0000
9:134691077:CTG:C	donor_gain	1.0000
9:134691077:CTGGT:C	donor_loss	1.0000
9:134691078:TG:T	donor_gain	1.0000
9:134691079:GG:G	donor_gain	1.0000
9:134691080:G:A	donor_loss	1.0000
9:134691080:G:GG	donor_gain	1.0000
9:134691081:T:A	donor_loss	1.0000
9:134699906:CA:C	acceptor_loss	1.0000
9:134699907:A:AC	acceptor_loss	1.0000
9:134699907:A:AG	acceptor_gain	1.0000
9:134699908:G:GT	acceptor_gain	1.0000
9:134699908:GC:G	acceptor_gain	1.0000
9:134699908:GCGT:G	acceptor_gain	1.0000
9:134699908:GCGTC:G	acceptor_gain	1.0000
9:134700119:GCAA:G	donor_gain	1.0000
9:134700120:CAAGT:C	donor_loss	1.0000
9:134700121:AA:A	donor_gain	1.0000
9:134700122:AGTA:A	donor_loss	1.0000
9:134700123:G:GG	donor_gain	1.0000

AlphaMissense

11685 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:134754319:G:A	G607E	1.000
9:134756766:G:A	G610D	1.000
9:134756774:G:T	G613W	1.000
9:134756775:G:A	G613E	1.000
9:134756784:G:A	G616E	1.000
9:134756793:G:A	G619E	1.000
9:134782677:G:A	G814D	1.000
9:134782686:G:A	G817E	1.000
9:134782694:G:A	G820R	1.000
9:134782694:G:C	G820R	1.000
9:134782695:G:A	G820E	1.000
9:134782703:G:C	G823R	1.000
9:134782712:G:C	G826R	1.000
9:134782713:G:A	G826D	1.000
9:134785026:G:A	G841D	1.000
9:134786014:G:A	G871E	1.000
9:134786022:G:T	G874W	1.000
9:134786023:G:A	G874E	1.000
9:134798436:G:A	G976E	1.000
9:134798445:G:A	G979E	1.000
9:134801982:G:A	G994D	1.000
9:134811538:G:A	G1210E	1.000
9:134812449:G:C	G1231R	1.000
9:134812459:G:A	G1234E	1.000
9:134812486:G:A	G1243E	1.000
9:134812495:G:A	G1246D	1.000
9:134812605:G:C	G1249R	1.000
9:134812606:G:A	G1249D	1.000
9:134812615:G:A	G1252D	1.000
9:134812624:G:A	G1255D	1.000

dbSNP variants (sampled 300 via entrez): RS1000002695 (9:134732985 G>T), RS1000012257 (9:134820016 T>C), RS1000013957 (9:134662184 C>G), RS1000037422 (9:134665410 T>A), RS1000040882 (9:134701058 C>A,T), RS1000045590 (9:134836686 C>T), RS1000051945 (9:134795722 G>A), RS1000065073 (9:134804782 C>T), RS1000066446 (9:134661921 G>A,C), RS1000073063 (9:134660138 A>C), RS1000092285 (9:134656951 A>G), RS1000119469 (9:134671362 C>A,T), RS1000119692 (9:134802540 C>T), RS1000160796 (9:134803342 C>A), RS1000161047 (9:134702549 C>T)

Disease associations

OMIM: gene MIM:120215 | disease phenotypes: MIM:130000, MIM:607086, MIM:130010, MIM:619329, MIM:109730, MIM:154700, MIM:194200, MIM:119800, MIM:609192, MIM:116200, MIM:619239, MIM:601144

GenCC curated gene-disease

Disease	Classification	Inheritance
Ehlers-Danlos syndrome, classic type	Definitive	Autosomal dominant
Ehlers-Danlos syndrome	Definitive	Autosomal dominant
Ehlers-Danlos syndrome, classic type, 1	Strong	Autosomal dominant
arterial disorder	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Ehlers-Danlos syndrome, classic type	Definitive	AD

Mondo (23): Ehlers-Danlos syndrome, classic type, 1 (MONDO:0019567), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), Ehlers-Danlos syndrome, classic type, 2 (MONDO:0019568), Ehlers-Danlos syndrome (MONDO:0020066), fibromuscular dysplasia, multifocal (MONDO:0859151), Ehlers-Danlos syndrome, classic type (MONDO:0007522), connective tissue disorder (MONDO:0003900), prostate cancer (MONDO:0008315), aortic valve disease 1 (MONDO:0024523), Marfan syndrome (MONDO:0007947), thrombocytopenia (MONDO:0002049), hypoparathyroidism (MONDO:0001220), cardiac rhythm disease (MONDO:0007263), Wolff-Parkinson-White syndrome (MONDO:0008685), clubfoot (MONDO:0007342)

Orphanet (13): Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Classical Ehlers-Danlos syndrome (Orphanet:287), OBSOLETE: Ehlers-Danlos syndrome type 2 (Orphanet:90318), Ehlers-Danlos syndrome (Orphanet:98249), Familial prostate cancer (Orphanet:1331), Marfan syndrome type 1 (Orphanet:284963), Marfan syndrome (Orphanet:558), Familial clubfoot with or without associated lower limb anomalies (Orphanet:199315), Cutis laxa (Orphanet:209), Loeys-Dietz syndrome (Orphanet:60030), Brugada syndrome (Orphanet:130), OBSOLETE: Ehlers-Danlos syndrome type 1 (Orphanet:90309), NON RARE IN EUROPE: Wolff-Parkinson-White syndrome (Orphanet:907)

HPO phenotypes

106 total (30 of 106 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000015	Bladder diverticulum
HP:0000023	Inguinal hernia
HP:0000139	Uterine prolapse
HP:0000218	High palate
HP:0000268	Dolichocephaly
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000347	Micrognathia
HP:0000394	Lop ear
HP:0000460	Narrow nose
HP:0000481	Abnormal cornea morphology
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000545	Myopia
HP:0000592	Blue sclerae
HP:0000678	Dental crowding
HP:0000767	Pectus excavatum
HP:0000938	Osteopenia
HP:0000974	Hyperextensible skin
HP:0000977	Soft skin
HP:0000978	Bruising susceptibility
HP:0000993	Molluscoid pseudotumors
HP:0001027	Soft, doughy skin
HP:0001030	Fragile skin
HP:0001058	Poor wound healing
HP:0001063	Acrocyanosis
HP:0001065	Striae distensae
HP:0001073	Cigarette-paper scars
HP:0001075	Atrophic scars

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST000775_3	Central corneal thickness	5.000000e-08
GCST000785_37	Longevity	1.000000e-06
GCST001614_2	Central corneal thickness	3.000000e-10
GCST001806_12	Corneal structure	3.000000e-22
GCST001806_13	Corneal structure	5.000000e-12
GCST001903_1	Central corneal thickness	6.000000e-08
GCST001903_2	Central corneal thickness	8.000000e-10
GCST002017_1	Crohn’s disease (need for surgery)	6.000000e-06
GCST002497_24	Blood pressure	8.000000e-07
GCST003856_1	Central corneal thickness	9.000000e-11
GCST003856_4	Central corneal thickness	2.000000e-08
GCST005580_227	Intraocular pressure	1.000000e-18
GCST005580_230	Intraocular pressure	1.000000e-17
GCST005667_18	Central corneal thickness	8.000000e-41
GCST005667_45	Central corneal thickness	2.000000e-30
GCST006366_7	Central corneal thickness	2.000000e-13
GCST008317_1	Central corneal thickness	3.000000e-08
GCST008317_7	Central corneal thickness	6.000000e-09
GCST008927_2	Phosphatidylcholine levels	3.000000e-08
GCST009391_1989	Metabolite levels	8.000000e-06
GCST009414_21	Central corneal thickness	3.000000e-16
GCST009414_33	Central corneal thickness	6.000000e-29
GCST010002_281	Refractive error	5.000000e-12
GCST012490_315	Femur bone mineral density x serum urate levels interaction	1.000000e-09
GCST012490_628	Femur bone mineral density x serum urate levels interaction	8.000000e-09
GCST90000654_28	Central corneal thickness	2.000000e-60
GCST90013442_13	Keratoconus	2.000000e-28
GCST90020025_385	Waist-to-hip ratio adjusted for BMI	3.000000e-08
GCST90020027_865	Waist-hip index	2.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004731	eye measurement
EFO:0004345	corneal topography
EFO:0006340	mean arterial pressure
EFO:0005213	central corneal thickness
EFO:0004695	intraocular pressure measurement
EFO:0005058	tyrosine measurement
EFO:0004531	urate measurement
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (16)

Descriptor	Name	Tree numbers
D053840	Brugada Syndrome	C14.280.067.322; C14.280.123.250; C16.320.100
D002386	Cataract	C11.510.245
D003025	Clubfoot	C05.330.488.655.063; C05.330.495.681.063; C05.660.585.512.380.813.063; C16.131.621.585.512.500.681.063
D003240	Connective Tissue Diseases	C17.300
D003483	Cutis Laxa	C16.320.850.180; C17.300.230; C17.800.827.180
D004535	Ehlers-Danlos Syndrome	C14.907.454.240; C15.378.463.515.240; C16.131.831.428; C16.320.850.260; C17.300.200.310; C17.800.804.428; C17.800.827.260
D007011	Hypoparathyroidism	C19.642.482
D055947	Loeys-Dietz Syndrome	C05.660.207.532; C14.907.055.239.587; C14.907.109.139.587; C16.131.077.537; C16.320.510
D008382	Marfan Syndrome	C05.116.099.674; C14.240.400.725; C14.280.400.725; C16.131.077.550; C16.131.240.400.720; C16.320.540; C17.300.500
D008945	Mitral Valve Prolapse	C14.280.484.400.500
D011030	Pneumothorax	C08.528.778
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
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937
D014927	Wolff-Parkinson-White Syndrome	C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980
C536194	Ehlers-Danlos syndrome type 1 (supp.)
C536195	Ehlers-Danlos syndrome type 2 (supp.)

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	7
bisphenol A	affects cotreatment, increases methylation, decreases expression, decreases methylation	4
trichostatin A	affects cotreatment, increases expression	3
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
arsenite	affects binding, decreases reaction, increases methylation	2
sodium arsenite	decreases expression, increases abundance	2
(+)-JQ1 compound	decreases reaction, increases expression, decreases expression	2
bisphenol AF	decreases expression, increases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation	2
Estradiol	increases expression, decreases expression, affects cotreatment	2
Triclosan	decreases expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Thapsigargin	decreases expression, increases expression	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
Magnetite Nanoparticles	increases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
peracetylated N-azidoacetylmannosamine	decreases expression	1
2,4,6-tribromophenol	increases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	increases expression	1
propionaldehyde	increases expression	1
deoxynivalenol	decreases expression	1
decabromobiphenyl ether	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression, increases methylation	1
tetrabromobisphenol A	increases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1

Cellosaurus cell lines

5 cell lines: 3 transformed cell line, 1 cancer cell line, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A2WK	GM26642	Transformed cell line	Male
CVCL_B1P0	Abcam HeLa COL5A1 KO	Cancer cell line	Female
CVCL_HK85	GM21459	Transformed cell line	Female
CVCL_HL13	GM21814	Transformed cell line	Female
CVCL_HL14	GM21815	Finite cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04061798	PHASE4	TERMINATED	ACT Guided Heparinization During Open Abdominal Aortic Aneurysm Repair.
NCT06040255	PHASE4	ENROLLING_BY_INVITATION	Focal Cerebral Arteriopathy Steroid Trial
NCT04890431	PHASE4	UNKNOWN	Impact of Oxygen Therapy on Fatigue in Patients With Hypermobile-type Ehlers-Danlos Syndrome
NCT05603741	PHASE4	ACTIVE_NOT_RECRUITING	Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04197050	PHASE4	UNKNOWN	Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT04007055	PHASE3	TERMINATED	The Value of Screening for HPR in Patients Undergoing Lower Extremity Arterial Endovascular Interventions
NCT05279937	PHASE3	NOT_YET_RECRUITING	The Ultrasound-Guided Dextrose Prolotherapy in Ehlers-Danlos Syndrome Patients
NCT00864201	PHASE3	UNKNOWN	A Study to Evaluate the Use of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease
NCT01196091	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01205438	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01488708	PHASE3	TERMINATED	On Open-Label Study in Participants With Systemic Lupus Erythematosus
NCT03626688	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of Ralinepag to Improve Treatment Outcomes in PAH Patients
NCT03683186	PHASE3	ENROLLING_BY_INVITATION	A Study Evaluating the Long-Term Efficacy and Safety of Ralinepag in Subjects With PAH Via an Open-Label Extension
NCT04084678	PHASE3	TERMINATED	A Study of Ralinepag to Evaluate Effects on Exercise Capacity by CPET in Subjects With WHO Group 1 PH
NCT06716606	PHASE3	RECRUITING	A Study to Investigate the Long-term Safety and Efficacy of Belimumab in Adults With Interstitial Lung Disease (ILD) Associated With Systemic Sclerosis (SSc) and Other Connective Tissue Diseases (CTD) (BLISSconneCTD-OLE)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT04258046	PHASE2	COMPLETED	Trametinib in the Treatment of Complicated Extracranial Arterial Venous Malformation
NCT00001966	PHASE2	COMPLETED	Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome
NCT00004357	PHASE2	COMPLETED	Absorption of Corticosteroids in Children With Juvenile Dermatomyositis
NCT00005675	PHASE2	COMPLETED	Oral Type I Collagen for Relieving Scleroderma
NCT01808196	PHASE2	COMPLETED	Testing Effectiveness of Losartan in Patients With EoE With or Without a CTD
NCT02682511	PHASE2	ACTIVE_NOT_RECRUITING	Oral Ifetroban to Treat Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension
NCT04993885	PHASE2	RECRUITING	Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT05516758	PHASE2	TERMINATED	A Study of Peresolimab (LY3462817) in Participants With Moderately-to-Severely Active Rheumatoid Arthritis
NCT05998759	PHASE2	RECRUITING	Telitacicept for the Treatment of Connective Tissue Disease-associated Thrombocytopenia
NCT06104228	PHASE2	RECRUITING	129 Xenon MRI as a Biomarker for Diagnosis and Response to Therapy in Pulmonary Arterial Hypertension (PAH)
NCT01093911	PHASE1	COMPLETED	Safety Study of CDP7657 in Healthy Volunteers and Patients With Systemic Lupus Erythematosus (SLE)
NCT01764594	PHASE1	COMPLETED	Safety Study of CDP7657 in Patients With Systemic Lupus Erythematosus
NCT02392130	PHASE1	COMPLETED	A Clinical Trial to Assess the Potential of LEO 130852A Gel to Reduce Steroid Induced Skin Atrophy on Healthy Skin
NCT03337165	PHASE1	COMPLETED	Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis
NCT03929120	PHASE1	COMPLETED	Allogeneic Bone Marrow Mesenchymal Stem Cells for Patients With Interstitial Lung Disease (ILD) & Connective Tissue Disorders (CTD)
NCT01570803	Not specified	WITHDRAWN	Efficacy Between Different Two Self-Expanding Nitinol Stents For The Atherosclerotic Femoro-Popliteal Arterial Disease
NCT03415880	Not specified	COMPLETED	Light Intensity Physical Activity Trial