COL3A1

Summary

COL3A1 (collagen type III alpha 1 chain, HGNC:2201) is a protein-coding gene on chromosome 2q32.2, encoding Collagen alpha-1(III) chain (P02461). Collagen type III occurs in most soft connective tissues along with type I collagen. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms.

Source: NCBI Gene 1281 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Ehlers-Danlos syndrome, vascular type (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 10
• Clinical variants (ClinVar): 3,942 total — 477 pathogenic, 393 likely-pathogenic
• Phenotypes (HPO): 184
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000090

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2201
Approved symbol	COL3A1
Name	collagen type III alpha 1 chain
Location	2q32.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000168542
Ensembl biotype	protein_coding
OMIM	120180
Entrez	1281

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 17 protein_coding, 3 retained_intron

ENST00000304636, ENST00000450867, ENST00000467886, ENST00000470167, ENST00000487010, ENST00000713744, ENST00000713745, ENST00000879194, ENST00000879195, ENST00000879196, ENST00000879197, ENST00000879198, ENST00000879199, ENST00000879200, ENST00000879201, ENST00000879202, ENST00000879203, ENST00000957916, ENST00000957917, ENST00000957918

RefSeq mRNA: 1 — MANE Select: NM_000090 NM_000090

CCDS: CCDS2297

Canonical transcript exons

ENST00000304636 — 51 exons

Exon	Start	End
ENSE00001129924	189010648	189010890
ENSE00001129930	189010178	189010365
ENSE00001129940	189008035	189008142
ENSE00001129947	189007885	189007938
ENSE00001129953	189007500	189007607
ENSE00001129962	189006937	189006990
ENSE00001129968	189006345	189006452
ENSE00001129975	189006206	189006259
ENSE00001129978	189005350	189005457
ENSE00001129983	189004257	189004364
ENSE00001129987	189003982	189004143
ENSE00001129994	189003734	189003787
ENSE00001130000	189003411	189003464
ENSE00001130010	189002955	189003062
ENSE00001130016	189002298	189002351
ENSE00001130021	189001536	189001589
ENSE00001130027	189001397	189001450
ENSE00001130031	188999842	188999895
ENSE00001130036	188999470	188999577
ENSE00001130041	188999285	188999383
ENSE00001130050	188998674	188998718
ENSE00001130057	188998266	188998319
ENSE00001130064	188997700	188997753
ENSE00001130075	188997165	188997218
ENSE00001130091	188995692	188995790
ENSE00001130094	188995046	188995099
ENSE00001130099	188994724	188994831
ENSE00001130103	188994541	188994594
ENSE00001130107	188994234	188994332
ENSE00001130112	188994038	188994082
ENSE00001130118	188993361	188993459
ENSE00001130125	188992887	188992940
ENSE00001130144	188991004	188991057
ENSE00001238012	189011628	189012746
ENSE00001326979	189008924	189009221
ENSE00001405059	188991669	188991722
ENSE00001407878	188992184	188992228
ENSE00001424552	188991487	188991531
ENSE00001948260	188974373	188974568
ENSE00002491797	188997336	188997389
ENSE00004021110	188996125	188996178
ENSE00004021111	188985197	188985247
ENSE00004021112	188989396	188989449
ENSE00004021113	188988081	188988134
ENSE00004021114	188987059	188987139
ENSE00004021115	188990307	188990360
ENSE00004021117	188985665	188985778
ENSE00004021118	188990096	188990149
ENSE00004021119	188996398	188996496
ENSE00004021120	188984760	188984962
ENSE00004021121	188988590	188988643

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 100.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 529.3405 / max 25951.0143, expressed in 980 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24185	524.8799	976
24214	2.3959	487
24195	1.3107	413
202507	0.4529	228
202506	0.3011	154

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of hip	UBERON:0001554	100.00	gold quality
parietal pleura	UBERON:0002400	99.99	gold quality
visceral pleura	UBERON:0002401	99.98	gold quality
pleura	UBERON:0000977	99.96	gold quality
tendon of biceps brachii	UBERON:0008188	99.96	gold quality
periodontal ligament	UBERON:0008266	99.96	gold quality
stromal cell of endometrium	CL:0002255	99.94	gold quality
cartilage tissue	UBERON:0002418	99.94	gold quality
upper leg skin	UBERON:0004262	99.93	gold quality
upper arm skin	UBERON:0004263	99.92	gold quality
saphenous vein	UBERON:0007318	99.91	gold quality
gall bladder	UBERON:0002110	99.90	gold quality
pylorus	UBERON:0001166	99.88	gold quality
smooth muscle tissue	UBERON:0001135	99.86	gold quality
mammalian vulva	UBERON:0000997	99.85	gold quality
synovial joint	UBERON:0002217	99.82	gold quality
vena cava	UBERON:0004087	99.80	gold quality
cardia of stomach	UBERON:0001162	99.79	gold quality
urethra	UBERON:0000057	99.78	gold quality
placenta	UBERON:0001987	99.78	gold quality
blood vessel layer	UBERON:0004797	99.78	gold quality
germinal epithelium of ovary	UBERON:0001304	99.75	gold quality
cauda epididymis	UBERON:0004360	99.70	gold quality
pericardium	UBERON:0002407	99.69	gold quality
mucosa of urinary bladder	UBERON:0001259	99.68	gold quality
caecum	UBERON:0001153	99.67	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.66	gold quality
mammary duct	UBERON:0001765	99.64	gold quality
layer of synovial tissue	UBERON:0007616	99.63	gold quality
penis	UBERON:0000989	99.62	gold quality

Single-cell (SCXA)

Detected in 57 experiment(s), a significant marker in 56.

Experiment	Marker?	Max mean expression
E-HCAD-23	yes	31539.81
E-HCAD-24	yes	24886.71
E-MTAB-8221	yes	19713.11
E-MTAB-10596	yes	17703.49
E-MTAB-6701	yes	14508.47
E-MTAB-8410	yes	14055.34
E-GEOD-75688	yes	11425.48
E-CURD-79	yes	10985.09
E-GEOD-130473	yes	10906.76
E-MTAB-7407	yes	10440.32
E-MTAB-9906	yes	9395.22
E-CURD-112	yes	9040.19
E-GEOD-75140	yes	8183.33
E-MTAB-10662	yes	8150.55
E-MTAB-7037	yes	7417.84

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ATM, CEBPA, FOS, FOSB, HOXA11, JUN, LMX1B, PPARG, SMAD2, SMAD3, SMAD7, SP1, TCF3, TGFB1, TP53INP1, ZFHX3

miRNA regulators (miRDB)

89 targeting COL3A1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-186-5P	99.99	70.83	3707
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-128-3P	99.95	71.17	2484

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• mutational analysis in Ehlers-Danlos syndrome type IV (PMID:11577371)
• keratinocyte growth factor (KGF), a key stimulator of epithelial cell proliferation during wound healing, preferentially binds to collagens I, III, and VI. (PMID:11973338)
• COL3A1 mutations appear not to be a major cause of isolated spontaneous cervical artery dissections (PMID:12140670)
• variants in the COL3A1 gene modulate the risk of coronary artery disease and could also modulate the response to antithrombotic therapy (PMID:12149201)
• collagen type III was up-regulated by high glucose, but not by TGF-beta1 in renal fibroblasts (PMID:12631068)
• Proportion of collagen III relative to collagen I increased significantly up to 6 weeks after initial injury and remained elevated up to 6 months, at which time the proportion of collagen III was 70% above baseline values (PMID:12880417)
• Although connective tissue growth factor alone had no effect on collagen secretion, combined stimulation with IGF-I enhanced collagen accumulation. (PMID:14633859)
• 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)
• Association between COL3A1 collagen gene exon 31 and risk of floppy mitral valve/mitral valve prolapse among the Chinese population of Taiwan (PMID:15193836)
• The lower collagen content in the endopelvic fascia and skin of women with SUI is not due to reduced collagen synthesis or selective reduction in synthesis of either collagen I or collagen III. (PMID:15227656)
• Predicted rates of AA substitution for Gly are compared with missense mutations known to cause disease. Any Gly replacement causes disease. The level of triple-helix destabilization determines outcome. More destabilizing mutations were seen than expected. (PMID:15365990)
• hnRNP A1 & K ARE positive effectors of collagen synthesis acting at the post-transcriptional level by interaction with the 3’-untranslated region (3’-UTR) of 3A1 mRNAs. (PMID:15514164)
• characterization of the proximal promoter of the COL3A1 gene; segment from -96 to -34 necessary for activation of transcription; multiple proteins depending on cell types, found to form the DNA-protein complex at -79 to -63 (PMID:15894390)
• analysis of binding between collagen type III and integrins alpha1beta1 and alpha2beta1 (PMID:16043429)
• collagen III, and probably fibronectin, are degraded extracellularly in smooth muscle cells from varicose veins by a mechanism involving MMPs, and maybe MMP3 by a direct or an indirect pathway (PMID:16088212)
• Antisense oligodeoxynuclotides down-regulate collagen type III gene expression. (PMID:16259598)
• demonstrates, for the first time, that BIRC3 (anti-apoptotic protein), COL3A1 (matrix protein synthesis), and CXCL3 (chemokine) were up-regulated in the thrombin-stimulated human umbilical vein endothelial cells (PMID:16356540)
• The expression of precursor proteins and mRNA of type I and type III collagens is increased in usual interstitial pneumonia and sarcoidosis, reflecting mainly active synthesis of these collagens in different areas of the lung. (PMID:16521042)
• Type III collagen was expressed significantly higher in valvular cardiomyopathy. (PMID:16681691)
• data showed the complexity of the regulation of the COL3A1 gene (human alpha1(III) collagen) involving several transcription factors. (PMID:16838047)
• Altered expression of decorin mRNA in the different dermal strata and a decrease in the collagen-to-decorin ratio inflicted by both age and ultraviolet irradiation affect collagen bundle diameter and subsequently the mechanical properties of human skin. (PMID:17146610)
• The results suggest that a high level of decorin mRNA might be associated with the reduced content of collagen type III, resulting in a less flexible form of extracellular matrix in the connective tissue in stress urinary incontinence and prolapse. (PMID:17396208)
• COL3A1 was overexpressed in uterine fibroids. (PMID:18089612)
• Case report of a novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. (PMID:18389341)
• High glucose levels downregulate mRNA levels in dermal fibroblast cell cultures. (PMID:18401458)
• Data reveal a more critical role for membrane cholesterol in collagen type III-induced than in VWF-induced Ca(2+) signalling. (PMID:18521510)
• There may be an association between COL3A1 genotype and risk of pelvic organ prolapse (PMID:18722615)
• the human type III collagen Gly991-Gly1032 cystine knot-containing peptide has both 7/2 and 10/3 triple helical symmetries (PMID:18805790)
• the constructs containing the ‘G’ allele of rs3106796 appear to exert lower transcriptional activity of COL3A1 than the ‘A’ allele, depending on the promoter types. (PMID:19000145)
• COL3A1 exon 31 polymorphism may have a role in determining the risk of pelvic organ prolapse in women (PMID:19152942)
• A dose-dependent increase in viable cells was demonstrated after the IPL irradiation. There was no significant change in mRNA levels of collagen I and fibronectin. (PMID:19389097)
• Results describe the mechanism of interaction and cleavage of human type III collagen by fibroblast MMP-1 by using a panel of recombinant human type III collagens (rhCIIIs) containing engineered sequences in the vicinity of the cleavage site. (PMID:19398000)
• COL3A1 is a disease-associated gene in both paediatric and adult gastroesophageal reflux and COL3A1 is genetically associated with hiatal hernia in adult males. (PMID:19398442)
• the Aright curved arrow G (Ile1205Val) polymorphism of COL3A1 were associated (P<0.05) with the prevalence of CKD in high- subjects. (PMID:19424605)
• COL3A1 (collagen type III alpha 1) 2209G>A is a predictor of pelvic organ prolapse (PMID:19444361)
• The expression of collagen III and CTGF in pPROM group were decreased significantly when compared to their control groups. The expression of collagen III in pPROM group appeared significantly decreased when compared to that in tPROM group. (PMID:19764567)
• Hypoxia-inducible factor 1alpha inhibits the fibroblast-like markers type I and type III collagen during hypoxia-induced chondrocyte redifferentiation. (PMID:19790048)
• HGF inhibited TGF-beta1 mRNA expression and reduced collagen III secretion. (PMID:19858036)
• Data show that the expression of collagen types I, III and fibronectin was significantly higher in pancreatic cancer, and the expression of collagen type IV, laminin and vitronectin was significantly lower in pancreatic cancer. (PMID:19893454)
• The catalytic domain of MMP-12 binds to the triple helix and cleaves the typical sites -Gly(775)-Leu(776)- in alpha-2 type I collagen and -Gly(775)-Ile(776)- in alpha-1 type I and type III collagens and at multiple other sites in both collagen types. (PMID:19932771)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Col3a1	ENSMUSG00000026043
rattus_norvegicus	Col3a1	ENSRNOG00000003357

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), 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(III) chain — P02461 (reviewed: P02461)

All UniProt accessions (4): P02461, A0AAQ5BGR9, A0AAQ5BGS2, H7C435

UniProt curated annotations — full annotation on UniProt →

Function. Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Subunit / interactions. Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines. Interacts with ADGRG1.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.

Disease relevance. Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. The disease is caused by variants affecting the gene represented in this entry. Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343] An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection 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?
P02461-1	1	yes
P02461-2	2

RefSeq proteins (1): NP_000081* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000885	Fib_collagen_C	Domain
IPR001007	VWF_dom	Domain
IPR008160	Collagen	Repeat
IPR050149	Collagen_superfamily	Family

Pfam: PF00093, PF01391, PF01410

UniProt features (388 total): modified residue 150, sequence variant 122, sequence conflict 34, compositionally biased region 30, strand 19, disulfide bond 7, helix 7, binding site 5, region of interest 4, propeptide 2, turn 2, domain 2, signal peptide 1, glycosylation site 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
7WWR	X-RAY DIFFRACTION	1.3
7WWS	X-RAY DIFFRACTION	1.3
4GYX	X-RAY DIFFRACTION	1.49
7XAN	X-RAY DIFFRACTION	1.5
4AE2	X-RAY DIFFRACTION	1.68
4AEJ	X-RAY DIFFRACTION	2.21
3DMW	X-RAY DIFFRACTION	2.3
6FZV	X-RAY DIFFRACTION	2.7
6FZW	X-RAY DIFFRACTION	2.78
2V53	X-RAY DIFFRACTION	3.2
4AK3	X-RAY DIFFRACTION	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02461-F1	54.98	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): 1280; 1282; 1283; 1285; 1288

Post-translational modifications (150): 545, 551, 554, 563, 566, 575, 581, 590, 599, 602, 608, 620, 635, 644, 650, 656, 659, 661, 668, 671 …

Disulfide bonds (7): 1196, 1197, 1262–1294, 1268, 1285, 1302–1464, 1372–1417

Glycosylation sites (1): 263

Function

Pathways and Gene Ontology

Reactome pathways

15 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-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
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-3000480	Scavenging by Class A Receptors
R-HSA-419037	NCAM1 interactions
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: 805 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, ACTACCT_MIR196A_MIR196B, JI_RESPONSE_TO_FSH_UP, GOBP_MUSCLE_TISSUE_DEVELOPMENT, WWTAAGGC_UNKNOWN, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOBP_CARTILAGE_DEVELOPMENT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_RESPONSE_TO_ACID_CHEMICAL, GOBP_RESPONSE_TO_PEPTIDE, GOCC_COLLAGEN_TRIMER

GO Biological Process (40): in utero embryonic development (GO:0001701), neuron migration (GO:0001764), tissue homeostasis (GO:0001894), chondrocyte differentiation (GO:0002062), cell-matrix adhesion (GO:0007160), transforming growth factor beta receptor signaling pathway (GO:0007179), integrin-mediated signaling pathway (GO:0007229), heart development (GO:0007507), response to radiation (GO:0009314), peptide cross-linking (GO:0018149), layer formation in cerebral cortex (GO:0021819), cerebral cortex development (GO:0021987), platelet activation (GO:0030168), collagen fibril organization (GO:0030199), lung development (GO:0030324), transforming growth factor beta1 production (GO:0032905), response to cytokine (GO:0034097), positive regulation of Rho protein signal transduction (GO:0035025), multicellular organism growth (GO:0035264), limb joint morphogenesis (GO:0036022), wound healing (GO:0042060), skin development (GO:0043588), fibroblast proliferation (GO:0048144), elastic fiber assembly (GO:0048251), digestive tract development (GO:0048565), negative regulation of immune response (GO:0050777), endochondral bone morphogenesis (GO:0060350), aorta smooth muscle tissue morphogenesis (GO:0060414), cellular response to amino acid stimulus (GO:0071230), basement membrane organization (GO:0071711), supramolecular fiber organization (GO:0097435), response to angiotensin (GO:1990776), negative regulation of neuron migration (GO:2001223), blood vessel development (GO:0001568), gene expression (GO:0010467), extracellular matrix organization (GO:0030198), aorta development (GO:0035904), animal organ development (GO:0048513), system development (GO:0048731), cartilage development (GO:0051216)

GO Molecular Function (8): protease binding (GO:0002020), integrin binding (GO:0005178), extracellular matrix structural constituent (GO:0005201), extracellular matrix structural constituent conferring tensile strength (GO:0030020), SMAD binding (GO:0046332), metal ion binding (GO:0046872), platelet-derived growth factor binding (GO:0048407), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), collagen type III trimer (GO:0005586), obsolete extracellular space (GO:0005615), 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-11 pathways:

Category	Pathways
Extracellular matrix organization	4
Collagen formation	2
Degradation of the extracellular matrix	1
Signaling by Receptor Tyrosine Kinases	1
Adaptive Immune System	1
Non-integrin membrane-ECM interactions	1
Binding and Uptake of Ligands by Scavenger Receptors	1
NCAM signaling for neurite out-growth	1
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
animal organ development	2
chordate embryonic development	1
cell migration	1
generation of neurons	1
multicellular organismal-level homeostasis	1
anatomical structure homeostasis	1
cell differentiation	1
cartilage development	1
cell-substrate adhesion	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
cell surface receptor signaling pathway	1
circulatory system development	1
response to abiotic stimulus	1
protein modification process	1
cerebral cortex radial glia-guided migration	1
anatomical structure formation involved in morphogenesis	1
pallium development	1
anatomical structure development	1
cell activation	1
blood coagulation	1
extracellular matrix organization	1
respiratory tube development	1
respiratory system development	1
transforming growth factor beta production	1
response to peptide	1
Rho protein signal transduction	1
regulation of Rho protein signal transduction	1
positive regulation of small GTPase mediated signal transduction	1
multicellular organismal process	1
developmental growth	1
anatomical structure morphogenesis	1
limb morphogenesis	1
enzyme binding	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
structural molecule activity	1
extracellular matrix	1
extracellular matrix structural constituent	1

Protein interactions and networks

STRING

3546 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL3A1	COL1A2	P02464	966
COL3A1	COL1A1	P02452	965
COL3A1	COL5A2	P05997	962
COL3A1	FBN1	P35555	932
COL3A1	POSTN	Q15063	886
COL3A1	FN1	P02751	874
COL3A1	ELN	P15502	850
COL3A1	ACTA2	P03996	819
COL3A1	COL11A1	P12107	817
COL3A1	COL6A3	P12111	812
COL3A1	DDR2	Q16832	793
COL3A1	BGN	P13247	790
COL3A1	ITGB3	P05106	778
COL3A1	ADAMTS2	O95450	758
COL3A1	DDR1	Q08345	743

IntAct

45 interactions, top by confidence:

A	B	Type	Score
ERAL1	COL1A1	psi-mi:“MI:0914”(association)	0.530
TIMM44	COL1A1	psi-mi:“MI:0914”(association)	0.530
BMP1	COL3A1	psi-mi:“MI:0194”(cleavage reaction)	0.440
COL3A1		psi-mi:“MI:0407”(direct interaction)	0.440
COL3A1	LOX	psi-mi:“MI:0915”(physical association)	0.370
COL3A1	TFAP2C	psi-mi:“MI:0915”(physical association)	0.370
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
incF	PMPCB	psi-mi:“MI:0914”(association)	0.350
PAX3	COL1A1	psi-mi:“MI:0914”(association)	0.350
C1QTNF1	PLOD2	psi-mi:“MI:0914”(association)	0.350
LAIR2	PLOD3	psi-mi:“MI:0914”(association)	0.350
ATF1	MYO1C	psi-mi:“MI:0914”(association)	0.350
ATF2	PLOD2	psi-mi:“MI:0914”(association)	0.350
ATF3	ILVBL	psi-mi:“MI:0914”(association)	0.350
ATF5	PTGES	psi-mi:“MI:0914”(association)	0.350
CEBPA	MYO1C	psi-mi:“MI:0914”(association)	0.350
CEBPD	PTGES	psi-mi:“MI:0914”(association)	0.350
GATA2	ILVBL	psi-mi:“MI:0914”(association)	0.350
PPARA	PTGES	psi-mi:“MI:0914”(association)	0.350
SOX2	MYO1C	psi-mi:“MI:0914”(association)	0.350
ATF1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CEBPD	ESYT2	psi-mi:“MI:0914”(association)	0.350
CREB1	NOP56	psi-mi:“MI:0914”(association)	0.350
SOX2	ESYT2	psi-mi:“MI:0914”(association)	0.350
DISC1	COL3A1	psi-mi:“MI:0915”(physical association)	0.000
COL3A1		psi-mi:“MI:0915”(physical association)	0.000
pdpD2	COL3A1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): COL3A1 (Affinity Capture-MS), COL3A1 (Affinity Capture-MS), VWF (Reconstituted Complex), COL3A1 (Proximity Label-MS), COL3A1 (Two-hybrid), SPARC (Reconstituted Complex), COL3A1 (Reconstituted Complex), PAX3 (Affinity Capture-MS), COL3A1 (Affinity Capture-MS), COL3A1 (Reconstituted Complex), COL3A1 (Affinity Capture-MS), COL3A1 (Affinity Capture-MS), COL3A1 (Affinity Capture-MS), COL3A1 (Affinity Capture-MS), COL3A1 (Affinity Capture-MS)

ESM2 similar proteins: C0HJN3, C0HJN4, C0HJN5, C0HJN7, C0HJN9, C0HJP0, C0HJP1, C0HJP3, C0HJP5, C0HJP6, C0HJP7, C0HJP8, C0HLG7, C0HLG9, C0HLH1, C0HLH3, C0HLH5, C0HLH9, C0HLI1, C0HLI3, C0HLI5, C0HLI7, C0HLI9, C0HLJ1, C0HLJ3, C0HLJ5, C0HLJ7, C0HLJ9, C0HM84, C0HM85, C0HM93, C0HM95, O46392, P02452, P02453, P02454, P02457, P02461, P02465, P02466

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

5 interactions.

A	Effect	B	Mechanism
COL3A1	up-regulates	ECM_synthesis
COL3A1	“up-regulates activity”	ADGRG1	binding
COLGALT1	“up-regulates activity”	COL3A1	glycosylation
COLGALT2	“up-regulates activity”	COL3A1	glycosylation
MMP1	“down-regulates quantity by destabilization”	COL3A1	cleavage

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 43 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.

GO biological processes:

GO term	Partners	Fold	FDR
collagen fibril organization	5	38.7×	4e-05
positive regulation of gene expression	5	6.7×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

3942 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	477
Likely pathogenic	393
Uncertain significance	1366
Likely benign	1202
Benign	130

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
101101	NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys)	Pathogenic
101102	NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp)	Pathogenic
101104	NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg)	Pathogenic
101105	NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp)	Pathogenic
101107	NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu)	Pathogenic
101108	NM_000090.4(COL3A1):c.951+5G>A	Pathogenic
101109	NM_000090.4(COL3A1):c.951+6T>C	Pathogenic
101111	NM_000090.4(COL3A1):c.951_951+14del	Pathogenic
101112	NM_000090.4(COL3A1):c.951+2T>A	Pathogenic
101113	NM_000090.4(COL3A1):c.800G>T (p.Gly267Val)	Pathogenic
101114	NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val)	Pathogenic
101115	NM_000090.4(COL3A1):c.2022+2T>C	Pathogenic
101116	NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg)	Pathogenic
101119	NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp)	Pathogenic
101120	NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg)	Pathogenic
101121	NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu)	Pathogenic
101122	NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg)	Pathogenic
101123	NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg)	Pathogenic
101126	NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg)	Pathogenic
101128	NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala)	Pathogenic
101132	NM_000090.4(COL3A1):c.3417+1G>A	Pathogenic
101134	NM_000090.4(COL3A1):c.1456-82_1977+177del	Pathogenic
101135	NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser)	Pathogenic
101137	NM_000090.4(COL3A1):c.3417+5G>A	Pathogenic
101138	NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg)	Pathogenic
101140	NM_000090.4(COL3A1):c.951+2T>C	Pathogenic
101141	NM_000090.4(COL3A1):c.555del (p.Gly186fs)	Pathogenic
101142	NM_000090.4(COL3A1):c.951+3G>T	Pathogenic
101143	NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp)	Pathogenic
101144	NM_000090.4(COL3A1):c.1347+3A>C	Pathogenic

SpliceAI

3977 predictions. Top by Δscore:

Variant	Effect	Δscore
2:188984756:TCA:T	acceptor_loss	1.0000
2:188984758:A:AG	acceptor_gain	1.0000
2:188984759:G:GA	acceptor_gain	1.0000
2:188984759:GCT:G	acceptor_gain	1.0000
2:188984959:TGCT:T	donor_gain	1.0000
2:188984960:GCT:G	donor_gain	1.0000
2:188984960:GCTG:G	donor_gain	1.0000
2:188984963:G:GG	donor_gain	1.0000
2:188984975:A:G	donor_gain	1.0000
2:188985188:A:AG	acceptor_gain	1.0000
2:188985189:T:G	acceptor_gain	1.0000
2:188985192:A:AG	acceptor_gain	1.0000
2:188985195:A:AG	acceptor_gain	1.0000
2:188985196:G:GA	acceptor_gain	1.0000
2:188985196:GC:G	acceptor_gain	1.0000
2:188985196:GCCT:G	acceptor_gain	1.0000
2:188985196:GCCTA:G	acceptor_gain	1.0000
2:188985246:CA:C	donor_gain	1.0000
2:188985246:CAGT:C	donor_loss	1.0000
2:188985247:AG:A	donor_loss	1.0000
2:188985248:G:GG	donor_gain	1.0000
2:188985249:TA:T	donor_loss	1.0000
2:188985250:AA:A	donor_loss	1.0000
2:188985659:TTTTA:T	acceptor_loss	1.0000
2:188985660:TTTAG:T	acceptor_loss	1.0000
2:188985662:TAGGG:T	acceptor_loss	1.0000
2:188985663:A:AG	acceptor_gain	1.0000
2:188985663:A:T	acceptor_loss	1.0000
2:188985663:AG:A	acceptor_gain	1.0000
2:188985663:AGG:A	acceptor_gain	1.0000

AlphaMissense

9203 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:188984815:G:C	W45C	1.000
2:188984815:G:T	W45C	1.000
2:188984837:T:C	C53R	1.000
2:188984864:T:A	C62S	1.000
2:188984865:G:C	C62S	1.000
2:189010234:T:A	C1294S	1.000
2:189010235:G:C	C1294S	1.000
2:189010750:T:A	C1372S	1.000
2:189010751:G:C	C1372S	1.000
2:189010885:T:A	C1417S	1.000
2:189010886:G:C	C1417S	1.000
2:188984813:T:A	W45R	0.999
2:188984813:T:C	W45R	0.999
2:188984828:T:A	C50S	0.999
2:188984828:T:C	C50R	0.999
2:188984829:G:A	C50Y	0.999
2:188984829:G:C	C50S	0.999
2:188984837:T:A	C53S	0.999
2:188984838:G:A	C53Y	0.999
2:188984838:G:C	C53S	0.999
2:188984839:T:G	C53W	0.999
2:188984843:T:A	C55S	0.999
2:188984843:T:C	C55R	0.999
2:188984844:G:A	C55Y	0.999
2:188984844:G:C	C55S	0.999
2:188984845:T:G	C55W	0.999
2:188984864:T:C	C62R	0.999
2:188984865:G:A	C62Y	0.999
2:188984866:C:G	C62W	0.999
2:188984879:T:A	C67S	0.999

dbSNP variants (sampled 300 via entrez): RS1000047280 (2:188998923 T>C), RS1000141271 (2:189002943 T>C), RS1000313891 (2:188984251 A>C,G), RS1000422306 (2:188988969 T>C), RS1000473697 (2:189010514 T>C), RS1000595244 (2:189010165 T>C,G), RS1000648091 (2:188997401 C>A,T), RS1000703211 (2:188995816 A>T), RS1000724773 (2:188989669 C>A,G,T), RS1000777138 (2:188989404 A>C,G), RS1000797754 (2:188975393 A>G), RS1000919306 (2:188982730 C>T), RS1001009730 (2:188976180 A>G), RS1001059109 (2:188975612 G>A), RS1001061743 (2:188976397 T>C)

Disease associations

OMIM: gene MIM:120180 | disease phenotypes: MIM:607086, MIM:618343, MIM:130000, MIM:130050, MIM:609192, MIM:154700, MIM:130020, MIM:182601, MIM:607087

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant Ehlers-Danlos syndrome, vascular type	Definitive	Autosomal dominant
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	Strong	Autosomal recessive
Ehlers-Danlos syndrome, vascular type	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

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

Mondo (16): Ehlers-Danlos syndrome, vascular type (MONDO:0017314), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (MONDO:0032688), Ehlers-Danlos syndrome (MONDO:0020066), autosomal dominant Ehlers-Danlos syndrome, vascular type (MONDO:0007524), Ehlers-Danlos syndrome, classic type, 1 (MONDO:0019567), connective tissue disorder (MONDO:0003900), aortic aneurysm (MONDO:0005160), Loeys-Dietz syndrome (MONDO:0018954), Marfan syndrome (MONDO:0007947), Ehlers-Danlos syndrome, hypermobility type (MONDO:0007523), hereditary spastic paraplegia 4 (MONDO:0008438), aortic aneurysm, familial thoracic 2 (MONDO:0011770), aortic aneurysm, familial thoracic 1 (MONDO:0024559), Ehlers-Danlos syndrome, classic type (MONDO:0007522)

Orphanet (12): Vascular Ehlers-Danlos syndrome (Orphanet:286), Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Vascular Ehlers-Danlos-polymicrogyria syndrome (Orphanet:636941), Ehlers-Danlos syndrome (Orphanet:98249), Loeys-Dietz syndrome (Orphanet:60030), Marfan syndrome type 1 (Orphanet:284963), Marfan syndrome (Orphanet:558), Hypermobile Ehlers-Danlos syndrome (Orphanet:285), Autosomal dominant spastic paraplegia type 4 (Orphanet:100985), Familial aortic dissection (Orphanet:229), Classical Ehlers-Danlos syndrome (Orphanet:287), OBSOLETE: Ehlers-Danlos syndrome type 1 (Orphanet:90309)

HPO phenotypes

184 total (30 of 184 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000015	Bladder diverticulum
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000139	Uterine prolapse
HP:0000160	Narrow mouth
HP:0000164	Abnormality of the dentition
HP:0000168	Abnormality of the gingiva
HP:0000190	Abnormal oral frenulum morphology
HP:0000212	Gingival overgrowth
HP:0000230	Gingivitis
HP:0000233	Thin vermilion border
HP:0000271	Abnormality of the face
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000347	Micrognathia
HP:0000387	Absent earlobe
HP:0000411	Protruding ear
HP:0000418	Narrow nasal ridge
HP:0000430	Underdeveloped nasal alae
HP:0000444	Convex nasal ridge
HP:0000446	Narrow nasal bridge
HP:0000490	Deeply set eye
HP:0000496	Abnormality of eye movement

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002778_1	Parkinson disease and lewy body pathology	5.000000e-08
GCST010151_5	Carotid intima media thickness x smoking interaction	4.000000e-06
GCST010698_39	Subcortical volume (min-P)	9.000000e-26
GCST010699_36	Brain morphology (min-P)	9.000000e-09
GCST010700_26	Cortical thickness (MOSTest)	9.000000e-52
GCST010701_48	Cortical surface area (MOSTest)	2.000000e-18
GCST010702_50	Subcortical volume (MOSTest)	8.000000e-10
GCST010703_340	Brain morphology (MOSTest)	3.000000e-10
GCST010796_3256	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST90002401_393	Platelet distribution width	2.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0006527	smoking status measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004327	electrocardiography
EFO:0007984	platelet component distribution width

MeSH disease descriptors (11)

Descriptor	Name	Tree numbers
D001014	Aortic Aneurysm	C14.907.055.239; C14.907.109.139
D003240	Connective Tissue Diseases	C17.300
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
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
D008531	Megacolon	C06.405.469.158.701
C562834	Aortic Aneurysm, Familial Thoracic 1 (supp.)
C564627	Aortic Aneurysm, Familial Thoracic 2 (supp.)
C536194	Ehlers-Danlos syndrome type 1 (supp.)
C536196	Ehlers-Danlos syndrome type 3 (supp.)
C536865	Spastic paraplegia 4, autosomal dominant (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

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

Chemical	Actions (top 5)	PubMed papers
Methotrexate	decreases response to substance, affects expression, increases expression	6
Resveratrol	affects secretion, decreases expression, increases expression	3
Copper	affects binding, decreases expression, increases expression	3
Paraquat	increases expression, increases reaction, affects expression, decreases reaction	3
Spironolactone	decreases expression	3
Tobacco Smoke Pollution	affects cotreatment, decreases reaction, increases expression, affects expression, decreases expression	3
bisphenol A	increases expression, decreases expression	2
ascorbate-2-phosphate	affects binding, affects cotreatment, increases expression, decreases expression	2
arsenite	decreases reaction, increases expression, affects binding, increases abundance, increases reaction (+1 more)	2
N-acetyl-4-benzoquinoneimine	decreases reaction, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
Cannabidiol	decreases reaction, increases expression	2
Chelating Agents	affects binding, decreases expression	2
Cisplatin	affects cotreatment, affects expression, decreases response to substance	2
Doxorubicin	decreases response to substance, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Quercetin	decreases expression	2
Triclosan	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	affects cotreatment, affects expression, decreases expression	2
Paclitaxel	affects cotreatment, affects expression, decreases response to substance	2
Asbestos, Crocidolite	decreases expression, increases expression	2
bisphenol F	increases expression	1
peracetylated N-azidoacetylmannosamine	decreases expression	1
H3B-120	decreases reaction, increases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
lead acetate	affects expression, increases abundance	1
quercitrin	decreases expression	1

Cellosaurus cell lines

498 cell lines: 473 induced pluripotent stem cell, 14 transformed cell line, 11 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_9S58	HPSI0114i-kolf_2-C1	Induced pluripotent stem cell	Male
CVCL_AE29	HPSI0114i-kolf_2	Induced pluripotent stem cell	Male
CVCL_B5P3	KOLF2.1J	Induced pluripotent stem cell	Male
CVCL_BT11	GM23080	Finite cell line	Female
CVCL_BT47	GM21566	Transformed cell line	Male
CVCL_BT48	GM21567	Finite cell line	Male
CVCL_BT49	GM21762	Transformed cell line	Male
CVCL_BT83	GM22051	Transformed cell line	Female
CVCL_BU80	GM22606	Transformed cell line	Female
CVCL_BU81	GM22607	Finite cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00190411	PHASE4	COMPLETED	Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type
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
NCT02597361	PHASE3	COMPLETED	Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE)
NCT05432466	PHASE3	RECRUITING	Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in Patients With Vascular Ehlers-Danlos Syndrome
NCT05463679	PHASE3	SUSPENDED	Investigate Efficacy, Safety, and Pharmacokinetics of Enzastaurin for the Prevention of Arterial Events in Patients With Vascular Ehlers-Danlos Syndrome.
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
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)
NCT05976841	Not specified	ACTIVE_NOT_RECRUITING	SEDVasc (RaDiCo Cohort) (RaDiCo-SEDVasc)
NCT06546137	Not specified	RECRUITING	National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil’s Unified Health System Through a Multicenter Registry