COL4A3

Summary

COL4A3 (collagen type IV alpha 3 chain, HGNC:2204) is a protein-coding gene on chromosome 2q36.3, encoding Collagen alpha-3(IV) chain (Q01955). Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen.

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter.

Source: NCBI Gene 1285 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Alport syndrome (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 16
• Clinical variants (ClinVar): 2,830 total — 171 pathogenic, 348 likely-pathogenic
• Phenotypes (HPO): 54
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000091

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2204
Approved symbol	COL4A3
Name	collagen type IV alpha 3 chain
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169031
Ensembl biotype	protein_coding
OMIM	120070
Entrez	1285

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 5 retained_intron, 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000304990, ENST00000396578, ENST00000468753, ENST00000469504, ENST00000471862, ENST00000487633, ENST00000643388, ENST00000682257, ENST00000682970, ENST00000683077, ENST00000684413, ENST00000684724, ENST00000871618

RefSeq mRNA: 1 — MANE Select: NM_000091 NM_000091

CCDS: CCDS42829

Canonical transcript exons

ENST00000396578 — 52 exons

Exon	Start	End
ENSE00001124442	227293191	227293317
ENSE00001135339	227294490	227294570
ENSE00001135390	227280440	227280590
ENSE00001135446	227259793	227259877
ENSE00001135506	227304019	227304144
ENSE00001135698	227251140	227251202
ENSE00001135733	227237968	227238024
ENSE00001184142	227308899	227309076
ENSE00001184212	227282365	227282532
ENSE00001184220	227277449	227277553
ENSE00001184223	227276385	227276477
ENSE00001184231	227269910	227269980
ENSE00001184235	227266417	227266509
ENSE00001297590	227294964	227295062
ENSE00001305594	227240143	227240232
ENSE00001311754	227290747	227290886
ENSE00001313569	227272949	227273117
ENSE00001323094	227266993	227267088
ENSE00001333576	227280893	227281006
ENSE00001380850	227279793	227279890
ENSE00001404696	227304985	227305083
ENSE00001421115	227270770	227270952
ENSE00001422971	227307710	227307919
ENSE00001461246	227295269	227295316
ENSE00001461259	227263780	227263944
ENSE00001461260	227261082	227261117
ENSE00001461264	227257603	227257644
ENSE00001461265	227256343	227256396
ENSE00001461266	227256026	227256070
ENSE00001461267	227254656	227254715
ENSE00001461269	227254112	227254174
ENSE00001461271	227253561	227253638
ENSE00001461273	227253296	227253337
ENSE00001461275	227251336	227251371
ENSE00001461276	227248443	227248520
ENSE00001461277	227247558	227247584
ENSE00001461280	227246685	227246738
ENSE00001461281	227245954	227246016
ENSE00001461284	227244951	227244995
ENSE00001461286	227244320	227244364
ENSE00001525608	227284211	227284345
ENSE00001525611	227283767	227283856
ENSE00001525734	227164624	227164813
ENSE00001664747	227311786	227314792
ENSE00003469688	227309204	227309318
ENSE00003506504	227289999	227290088
ENSE00003517453	227289150	227289248
ENSE00003536648	227303859	227303930
ENSE00003616655	227297674	227297859
ENSE00003632596	227298682	227298812
ENSE00003644847	227310776	227310948
ENSE00003665972	227303038	227303110

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 97.46.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1710 / max 54.3958, expressed in 324 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25721	0.7213	252
25719	0.2267	112
25722	0.1051	49
25718	0.0598	26
25720	0.0582	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.46	gold quality
pigmented layer of retina	UBERON:0001782	96.81	gold quality
retina	UBERON:0000966	96.78	gold quality
metanephros cortex	UBERON:0010533	96.69	gold quality
gluteal muscle	UBERON:0002000	96.42	gold quality
renal medulla	UBERON:0000362	96.01	gold quality
endothelial cell	CL:0000115	96.00	gold quality
renal glomerulus	UBERON:0000074	95.70	gold quality
triceps brachii	UBERON:0001509	95.68	gold quality
cranial nerve II	UBERON:0000941	95.62	gold quality
biceps brachii	UBERON:0001507	95.55	gold quality
metanephric glomerulus	UBERON:0004736	95.12	gold quality
buccal mucosa cell	CL:0002336	94.93	gold quality
cauda epididymis	UBERON:0004360	93.81	gold quality
caput epididymis	UBERON:0004358	93.50	gold quality
left lobe of thyroid gland	UBERON:0001120	93.36	gold quality
cortex of kidney	UBERON:0001225	93.21	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.10	gold quality
vastus lateralis	UBERON:0001379	92.89	gold quality
thyroid gland	UBERON:0002046	92.72	gold quality
quadriceps femoris	UBERON:0001377	92.28	gold quality
right lobe of thyroid gland	UBERON:0001119	91.95	gold quality
visceral pleura	UBERON:0002401	91.66	gold quality
kidney epithelium	UBERON:0004819	91.51	gold quality
mucosa of stomach	UBERON:0001199	90.96	gold quality
gastrocnemius	UBERON:0001388	90.82	gold quality
kidney	UBERON:0002113	90.44	gold quality
pancreatic ductal cell	CL:0002079	90.36	gold quality
adult mammalian kidney	UBERON:0000082	90.29	gold quality
muscle organ	UBERON:0001630	89.86	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	43.11
E-MTAB-7316	yes	23.73
E-ANND-3	yes	10.05
E-GEOD-111727	no	294.82
E-GEOD-137537	no	3.49

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): LMX1B, TP53, ZEB1

miRNA regulators (miRDB)

148 targeting COL4A3, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4803	99.98	71.99	3117
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-205-3P	99.92	69.92	3165

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• COL4A3 mutation: from familial hematuria to autosomal-dominant or recessive Alport syndrome. (PMID:12028435)
• the quaternary organization of Goodpasture antigen demonstrates the molecular basis for the sequestration of epitopes (PMID:12193605)
• No collagen alpha3(IV) or alpha4(IV) in lens capsules of 54-day human embryos, while collagen alpha3(IV) and alpha4(IV) were detected in adult humans. (PMID:12225806)
• tumstatin binds to alpha v beta 3 integrin in a vitronectin/fibronectin/RGD cyclic peptide independent manner (PMID:12682293)
• COL4A3 gene is associated with Alport’s syndrome in which males and females are severely affected. (PMID:12768082)
• In kidney, when expressed onto Col4a3(-/-) background, human alpha3(IV) chain restored expression of and co-assembled with mouse alpha4 and alpha5(IV) chains at sites where human alpha3(IV) was expressed. All three chains required for network assembly. (PMID:14507670)
• Not only nephritogenic epitope itself, but flanking sequences and conformational context of nephritogenic epitope may influence its ability to cause glomerulonephritis. (alpha3(IV)NC1) (PMID:14633133)
• COL4A3 mutations are common in thin basement membrane nephropathy (PMID:14871398)
• Mutations in COL4A3 and COL4A4 genes produce alteration to glomerular basement membrane(GBM). Phenotype may range from thinned GBM to GBM thickening, lamellation and splitting. Review. (PMID:15280517)
• our results plead in favor of an in vivo anti-angiogenic effect of tumstatin (PMID:15492988)
• 40% of families with TBMN have hematuria that segregates with the corresponding locus ( COL4A3/COL4A4 ), and identical mutations occur in both conditions. (PMID:15880327)
• novel mutations identified during routine molecular diagnostics for Alport syndrome (PMID:15954103)
• Persistent familial hematuria in children often occurs at the COL4A3 locus for thin membrane nephropathy. (PMID:16235097)
• hTERT/RGD-alpha3(IV)NC1 gene therapy showed limited expression of RGD-alpha3(IV)NC1 in tumors and resulted in a significant decrease of vessel density in tumors. (PMID:16877525)
• Possibly mutated in Alport syndrome (review) (PMID:16895672)
• Immunolocalization of alpha3 type (IV)-chain collagen in the kidney may correspond to the severity of the clinical phenotype. (PMID:16940319)
• Polymorphisms in thus genes is particularly important to enable diagnostic laboratories to distinguish mutations from uncommon normal variants. (PMID:17216251)
• Ultrastructure of COL4A3 immunofluorescence staining of the glomerular basement membrane and Bowman capsule was demonstrated. (PMID:17294221)
• 16 novel mutations identified in COL4A3, COL4A4 & COL4A5 genes in Slovenian families with Alport syndrome & benign familial hematuria (BFH); 3 heterozygous mutations in the COL4A3 gene (2 missense & 1 frameshift) were identified in patients with BFH (PMID:17396119)
• Novel mutation (3725G>A, G1242D) of COL4A3 was underlying pathogenic role in homozygous form in autosomal recessive Alport syndrome and in heterozygous form in thin basement membrane nephropathy within an identical family. (PMID:17726307)
• COL4A3/COL4A4 mutations predispose some patients to FSGS and chronic renal failure. (PMID:17942953)
• the type IV collagen alpha3 gene contributes to the genetic susceptibility to chronic obstructive pulmonary disease (PMID:18385178)
• novel nonsense mutations in 2 African American siblings with autosomal recessive Alport syndrome. (PMID:18436078)
• COL4A3 founder mutations were identified in large Greek-Cypriot families with familial hematuria and thin basement membrane nephroapthy and focal segmental glomerulosclerosis dating to 18th century. (PMID:18439107)
• Perturbation of the quaternary structure of this protein may be a key factor in the etiology of Goodpasture disease. (PMID:18499662)
• our data show many patients with collagen IV mutations may develop focal & segmental glomerulosclerosis, on top of thin basement membrane nephropathy & microscopic hematuria, which often progresses to chronic renal failure or end-stage renal disease (PMID:18661361)
• Goodpasture antigen-binding protein is a soluble exportable protein that interacts with type IV collagen (PMID:18772132)
• analysis of noncollagenous sites encoding specific interactions and quaternary assembly of alpha 3 alpha 4 alpha 5(IV) collagen (PMID:18930919)
• A transgenic Goodpasture disease mouse model suggests that anti-3(IV)NC1 collagen B cells must either escape central deletion, or they must arise de novo from somatic events in mature B cells in the periphery and escape regulation at more distal points. (PMID:18941198)
• association of heterozygous COL4A3/COL4A4 mutations with familial microscopic haematuria, thin basement membrane nephropathy and the late development of familial proteinuria, CRF, and ESRD, due to FSGS (PMID:19357112)
• The expression of tumstatin gene was down-regulated in renal carcinoma tissues and cells. (PMID:19688274)
• the repetitive nature and relatedness of the alpha3(IV)NC1 antigenic epitopes facilitate cross-linking of pathogenic Ab, in vivo, by allowing both IgG Fab to bind to the basement membrane (PMID:19786737)
• This is the first mutational screening of COL4A3 and COL4A4 genes in keratoconus patients to establish the status of these genes and compare them to a control population. (PMID:20029656)
• a novel heterozygous mutation p.G291E in exon 15 of the COL4A3 in the family who presented with hematuria and mild proteinuria. (PMID:20177710)
• The absence of pathogenic mutations in COL4A3 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder (PMID:20664914)
• Identified mutations of the COL4A5 and COL4A3 gene in five Chinese Alport syndrome families. (PMID:21143337)
• Circulating anti-GBM antibodies undetectable by ELISA could recognize cryptic and conformation-dependent epitopes restricted on col4a3. (PMID:21854504)
• Antibodies against linear epitopes on the Goodpasture autoantigen could be detected in human anti-glomerular basement membrane disease and were associated with kidney injury. (PMID:22461538)
• Tumstatin-mRNA expression level correlates with prognosis, which suggests that tumstatin-mRNA is a new potential independent marker of favorable prognosis in non-small cell lung cancer. (PMID:22473740)
• COL4A3 expression is negatively associated with a favorable prognosis of overall, advanced, and intestinal-type gastric carcinomas. (PMID:22939955)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Col4a3	ENSMUSG00000079465
rattus_norvegicus	Col4a3	ENSRNOG00000015365

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-3(IV) chain — Q01955 (reviewed: Q01955)

Alternative names: Goodpasture antigen

All UniProt accessions (4): A0A2R8Y2F0, A0A2R8Y6E5, Q01955, H7BXM4

UniProt curated annotations — full annotation on UniProt →

Function. Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen. Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.

Subunit / interactions. There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network. The alpha 3(IV) chain forms a triple helical protomer with alpha 4(IV) and alpha 5(IV); this triple helical structure dimerizes through NC1-NC1 domain interactions such that the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains of one protomer connect with the alpha 5(IV), alpha 4(IV) and alpha 3(IV) chains of the opposite promoter, respectively. Interacts with ITGB3. Associates with LAMB2 at the neuromuscular junction and in GBM.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.

Tissue specificity. Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung. PubMed:8083201 reports similar levels of expression of alpha 3 and alpha 4 type IV collagens in kidney, but PubMed:7523402 reports that in kidney levels of alpha 3 type IV collagen are significantly lower than those of alpha 4 type IV collagen. According to PubMed:8083201, alpha 3 type IV collagen is not detected in heart, brain, placenta, liver, pancreas, extrasynaptic muscle fibers, endoneurial and perineurial nerves, fetal brain, fetal heart and fetal liver. According to PubMed:7523402, alpha 3 type IV collagen is strongly expressed in pancreas, neuroretina and calvaria and not expressed in adrenal, ileum and skin. Isoform 1 and isoform 3 are strongly expressed in kidney, lung, suprarenal capsule, muscle and spleen, in each of these tissues isoform 1 is more abundant than isoform 3. Isoform 1 and isoform 3 are expressed at low levels in artery, fat, pericardium and peripherical nerve, but not in placenta, mesangium, skin, pleura and cultured umbilical endothelial cells.

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. Isoform 2 contains an additional N-linked glycosylation site. Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens. The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. Phosphorylated. Thought to be phosphorylated by CERT, but CERT does not have kinase activity.

Disease relevance. Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney. Hematuria, benign familial, 2 (BFH2) [MIM:620320] An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. The disease is caused by variants affecting the gene represented in this entry. Alport syndrome 3A, autosomal dominant (ATS3A) [MIM:104200] A form of Alport syndrome, a syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. The disease is caused by variants affecting the gene represented in this entry. Alport syndrome 3B, autosomal recessive (ATS3B) [MIM:620536] A form of Alport syndrome, a syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.

Miscellaneous. The epitopes recognized by the Goodpasture autoantibodies are sequestered within the NC1 hexamer of the type IV collagen network.

Similarity. Belongs to the type IV collagen family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q01955-1	1, GP	yes
Q01955-2	2, V, GP-V
Q01955-3	3, L5, GP-III, GP-III/V
Q01955-4	4, GP-III/IV/V
Q01955-5	5, GP-II/III/IV/V

RefSeq proteins (1): NP_000082* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001442	Collagen_IV_NC	Domain
IPR008160	Collagen	Repeat
IPR016187	CTDL_fold	Homologous_superfamily
IPR036954	Collagen_IV_NC_sf	Homologous_superfamily
IPR050938	Collagen_Structural_Proteins	Family

Pfam: PF01391, PF01413

UniProt features (114 total): sequence variant 31, compositionally biased region 20, strand 19, region of interest 8, helix 6, short sequence motif 6, disulfide bond 6, sequence conflict 5, splice variant 5, chain 2, cross-link 2, signal peptide 1, domain 1, site 1, glycosylation site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6WKU	X-RAY DIFFRACTION	1.76
5NB0	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01955-F1	48.64	0.15

Functional residue map

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

Catalytic / active sites (1): 1426–1427 (cleavage; by collagenase)

Post-translational modifications (2): 1533, 1651

Disulfide bonds (6): 1460–1551, 1493–1548, 1505–1511, 1570–1665, 1604–1662, 1616–1622

Glycosylation sites (1): 253

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-2214320	Anchoring fibril formation
R-HSA-2243919	Crosslinking of collagen fibrils
R-HSA-3000157	Laminin interactions
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-419037	NCAM1 interactions
R-HSA-8948216	Collagen chain trimerization
R-HSA-9638630	Attachment of bacteria to epithelial cells

MSigDB gene sets: 319 (showing top): GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, TGGTGCT_MIR29A_MIR29B_MIR29C, MYOGENIN_Q6, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, TGCACTT_MIR519C_MIR519B_MIR519A, GOCC_COLLAGEN_TRIMER, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, LHX3_01, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP

GO Biological Process (10): cell adhesion (GO:0007155), cell surface receptor signaling pathway (GO:0007166), sensory perception of sound (GO:0007605), negative regulation of cell population proliferation (GO:0008285), negative regulation of angiogenesis (GO:0016525), collagen fibril organization (GO:0030199), glomerular basement membrane development (GO:0032836), collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063), endothelial cell apoptotic process (GO:0072577), negative regulation of vascular endothelial cell proliferation (GO:1905563)

GO Molecular Function (6): integrin binding (GO:0005178), structural molecule activity (GO:0005198), metalloendopeptidase inhibitor activity (GO:0008191), extracellular matrix structural constituent conferring tensile strength (GO:0030020), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), collagen type IV trimer (GO:0005587), basement membrane (GO:0005604), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), collagen trimer (GO:0005581)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Extracellular matrix organization	5
Collagen formation	2
Assembly of collagen fibrils and other multimeric structures	2
Degradation of the extracellular matrix	1
Signaling by Receptor Tyrosine Kinases	1
NCAM signaling for neurite out-growth	1
Collagen biosynthesis and modifying enzymes	1
Biofilm formation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular matrix organization	2
extracellular matrix	2
cellular process	1
signal transduction	1
sensory perception of mechanical stimulus	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
angiogenesis	1
regulation of angiogenesis	1
negative regulation of blood vessel morphogenesis	1
glomerulus development	1
anatomical structure development	1
cell surface receptor protein tyrosine kinase signaling pathway	1
collagen-activated signaling pathway	1
apoptotic process	1
negative regulation of endothelial cell proliferation	1
vascular endothelial cell proliferation	1
regulation of vascular endothelial cell proliferation	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
molecular_function	1
metalloendopeptidase activity	1
endopeptidase inhibitor activity	1
extracellular matrix structural constituent	1
structural molecule activity	1
binding	1
cellular anatomical structure	1
network-forming collagen trimer	1
chicken-wire-like collagen network	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
protein-containing complex	1

Protein interactions and networks

STRING

1652 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL4A3	CERT1	Q9Y5P4	831
COL4A3	IGBP1	P78318	777
COL4A3	VSX1	Q9NZR4	724
COL4A3	CHRND	Q07001	719
COL4A3	SLU7	O95391	719
COL4A3	NPHS1	O60500	702
COL4A3	ALPI	P09923	695
COL4A3	MYH9	P35579	685
COL4A3	LMX1B	O60663	651
COL4A3	VTN	P01141	646
COL4A3	ZEB1	P37275	619
COL4A3	NID1	P14543	617
COL4A3	NPHS2	Q9NP85	614
COL4A3	PAX3	P23760	611
COL4A3	ALPP	P05187	601

IntAct

3 interactions, top by confidence:

A	B	Type	Score
COL4A3	KLK6	psi-mi:“MI:0570”(protein cleavage)	0.440
COL4A3	PDIA4	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (16): COL4A3 (Affinity Capture-RNA), COL4A3 (Affinity Capture-RNA), COL4A3 (Affinity Capture-MS), COL4A3 (Proximity Label-MS), COL4A3 (Reconstituted Complex), COL4A3 (Proximity Label-MS), COL4A3 (Proximity Label-MS), COL4A3 (Affinity Capture-MS), DTX2 (Co-fractionation), EIF3D (Co-fractionation), OTUD6B (Co-fractionation), PSRC1 (Co-fractionation), UNC13A (Co-fractionation), FBP1 (Cross-Linking-MS (XL-MS)), COL4A3 (Affinity Capture-MS)

ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WR59, C0HLN2, C7DZK3, O35167, O35348, O76368, O88207, P08122, P08572, P12106, P12107, P12108, P13942, P20849, P20850, P20908, P20909, P25067, P25940, P53420, P83371, P98085, Q01955, Q03637, Q05722, Q07092, Q07643, Q0VF58, Q14031, Q14055, Q14993, Q17RW2, Q28083, Q30D77, Q32S24, Q4ZJM7

Diamond homologs: P02462, P02463, P08120, P08122, P08572, P17139, P17140, P27393, P29400, P53420, P55787, Q01955, Q14031, Q28084, Q28247, Q29442, Q7SIB2, Q7SIB3, Q9QZR9, Q9QZS0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
COL4A3	“up-regulates activity”	“A2/b1 integrin”	binding
COL4A3	up-regulates	ECM_synthesis
COL4A3	“up-regulates activity”	“A1/b1 integrin”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

2830 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	171
Likely pathogenic	348
Uncertain significance	656
Likely benign	1186
Benign	135

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1055707	NC_000002.11:g.(?228120742)(228121112_?)del	Pathogenic
1064607	NM_000091.5(COL4A3):c.2881+1G>A	Pathogenic
1068520	NC_000002.12:g.227256027del	Pathogenic
1068807	NM_000091.5(COL4A3):c.3211-2A>C	Pathogenic
1069759	NM_000091.5(COL4A3):c.1591C>T (p.Gln531Ter)	Pathogenic
1070841	NM_000091.5(COL4A3):c.467del (p.Lys156fs)	Pathogenic
1071261	NM_000091.5(COL4A3):c.253G>T (p.Gly85Ter)	Pathogenic
1071262	NM_000091.5(COL4A3):c.2746+1del	Pathogenic
1071745	NM_000091.5(COL4A3):c.1111C>T (p.Gln371Ter)	Pathogenic
1071819	NM_000091.5(COL4A3):c.4701del (p.Pro1568fs)	Pathogenic
1073387	NM_000091.5(COL4A3):c.3517+1del	Pathogenic
1074657	NC_000002.11:g.(?228102664)(228176586_?)del	Pathogenic
1074755	NM_000091.5(COL4A3):c.4217del (p.Gly1406fs)	Pathogenic
1075091	NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	Pathogenic
1075718	NM_000091.5(COL4A3):c.1861dup (p.Gln621fs)	Pathogenic
1076300	NM_000091.5(COL4A3):c.864del (p.Ala289fs)	Pathogenic
1177517	NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu)	Pathogenic
1185593	NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu)	Pathogenic
1185625	NM_000091.5(COL4A3):c.2439del (p.Arg814fs)	Pathogenic
1220326	NM_000091.5(COL4A3):c.1131del (p.Gly378fs)	Pathogenic
1297071	NM_000091.5(COL4A3):c.4318del (p.Thr1440fs)	Pathogenic
1301020	NM_000091.5(COL4A3):c.1156_1171del (p.Ser386fs)	Pathogenic
1357187	NM_000091.5(COL4A3):c.3542del (p.Pro1181fs)	Pathogenic
1358553	NM_000091.5(COL4A3):c.3955+1G>C	Pathogenic
1371008	NC_000002.12:g.227280441del	Pathogenic
1375749	NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)	Pathogenic
1377027	NM_000091.5(COL4A3):c.4410del (p.Ser1472fs)	Pathogenic
1391411	NM_000091.5(COL4A3):c.967_968dup (p.Met323fs)	Pathogenic
1406335	NM_000091.5(COL4A3):c.3579_3585del (p.Asp1193fs)	Pathogenic
1407693	NM_000091.5(COL4A3):c.2003del (p.Gly668fs)	Pathogenic

SpliceAI

7276 predictions. Top by Δscore:

Variant	Effect	Δscore
2:227164809:GCAAG:G	donor_gain	1.0000
2:227164811:AAGGT:A	donor_loss	1.0000
2:227164812:AGGTG:A	donor_loss	1.0000
2:227164814:G:GG	donor_gain	1.0000
2:227164814:GTGA:G	donor_loss	1.0000
2:227237966:AG:A	acceptor_gain	1.0000
2:227237967:GG:G	acceptor_gain	1.0000
2:227237967:GGGTT:G	acceptor_gain	1.0000
2:227244996:G:GG	donor_gain	1.0000
2:227245950:CCAG:C	acceptor_loss	1.0000
2:227245951:CA:C	acceptor_loss	1.0000
2:227245952:A:AG	acceptor_gain	1.0000
2:227245952:A:T	acceptor_loss	1.0000
2:227245952:AG:A	acceptor_gain	1.0000
2:227245952:AGG:A	acceptor_gain	1.0000
2:227245953:G:GG	acceptor_gain	1.0000
2:227245953:G:T	acceptor_loss	1.0000
2:227245953:GG:G	acceptor_gain	1.0000
2:227245953:GGG:G	acceptor_gain	1.0000
2:227245953:GGGC:G	acceptor_gain	1.0000
2:227245953:GGGCA:G	acceptor_gain	1.0000
2:227246014:AAG:A	donor_gain	1.0000
2:227246015:AG:A	donor_gain	1.0000
2:227246015:AGGTA:A	donor_loss	1.0000
2:227246016:GG:G	donor_gain	1.0000
2:227246017:G:GG	donor_gain	1.0000
2:227246017:GTAA:G	donor_loss	1.0000
2:227248439:CAAG:C	acceptor_loss	1.0000
2:227248440:A:AG	acceptor_gain	1.0000
2:227248440:AAG:A	acceptor_gain	1.0000

AlphaMissense

10425 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227309072:A:C	S1546R	0.997
2:227309074:C:A	S1546R	0.997
2:227309074:C:G	S1546R	0.997
2:227310866:T:A	C1616S	0.997
2:227310867:G:C	C1616S	0.997
2:227308910:A:C	S1492R	0.996
2:227308912:C:A	S1492R	0.996
2:227308912:C:G	S1492R	0.996
2:227309002:G:C	W1522C	0.996
2:227309002:G:T	W1522C	0.996
2:227308967:T:A	C1511S	0.995
2:227308968:G:C	C1511S	0.995
2:227309205:T:A	C1548S	0.995
2:227309206:G:C	C1548S	0.995
2:227310916:G:C	W1632C	0.995
2:227310916:G:T	W1632C	0.995
2:227311835:A:C	S1660R	0.995
2:227311837:T:A	S1660R	0.995
2:227311837:T:G	S1660R	0.995
2:227311841:T:A	C1662S	0.995
2:227311842:G:C	C1662S	0.995
2:227309000:T:A	W1522R	0.994
2:227309000:T:C	W1522R	0.994
2:227309207:C:G	C1548W	0.994
2:227310866:T:C	C1616R	0.994
2:227310914:T:A	W1632R	0.994
2:227310914:T:C	W1632R	0.994
2:227310832:C:G	C1604W	0.993
2:227310868:T:G	C1616W	0.993
2:227311843:T:G	C1662W	0.993

dbSNP variants (sampled 300 via entrez): RS1000001354 (2:227175019 G>A), RS1000017111 (2:227224146 G>A), RS1000024851 (2:227266405 G>A,C), RS1000078589 (2:227235307 A>G), RS1000099197 (2:227206972 T>C,G), RS1000126394 (2:227273848 C>A,T), RS1000140700 (2:227191531 A>C,G), RS1000146156 (2:227200521 T>C), RS1000233216 (2:227185106 T>C), RS1000248010 (2:227292204 T>C), RS1000259083 (2:227189836 T>C,G), RS1000265228 (2:227246365 G>A,T), RS1000268079 (2:227218306 G>A), RS1000299278 (2:227241706 G>A), RS1000328792 (2:227212128 A>C)

Disease associations

OMIM: gene MIM:120070 | disease phenotypes: MIM:620536, MIM:104200, MIM:203780, MIM:141200, MIM:301050, MIM:620320, MIM:617682

GenCC curated gene-disease

Disease	Classification	Inheritance
Alport syndrome	Definitive	Semidominant
autosomal recessive Alport syndrome	Definitive	Autosomal recessive
Alport syndrome 3b, autosomal recessive	Definitive	Autosomal dominant
autosomal dominant Alport syndrome	Strong	Autosomal dominant
hematuria, benign familial, 1	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Alport syndrome	Definitive	SD

Mondo (18): Alport syndrome 3b, autosomal recessive (MONDO:0957811), autosomal dominant Alport syndrome (MONDO:0007086), autosomal recessive Alport syndrome (MONDO:0008762), hematuria, benign familial (MONDO:0957317), Alport syndrome (MONDO:0018965), hematuria, benign familial, 2 (MONDO:0958186), hearing loss disorder (MONDO:0005365), focal segmental glomerulosclerosis (MONDO:0100313), kidney disorder (MONDO:0005240), atypical hemolytic-uremic syndrome (MONDO:0016244), chronic kidney disease (MONDO:0005300), hematuria, benign familial, 1 (MONDO:0007709), glomerular disorder (MONDO:0019722), proteinuria (MONDO:0003634), nephrotic syndrome (MONDO:0005377)

Orphanet (7): Alport syndrome (Orphanet:63), Autosomal dominant Alport syndrome (Orphanet:88918), Autosomal recessive Alport syndrome (Orphanet:88919), Atypical hemolytic uremic syndrome (Orphanet:2134), Glomerular disease (Orphanet:93548), Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome (Orphanet:529965), NON RARE IN EUROPE: Benign familial hematuria (Orphanet:97562)

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000099	Glomerulonephritis
HP:0000100	Nephrotic syndrome
HP:0000121	Nephrocalcinosis
HP:0000123	Nephritis
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000519	Developmental cataract
HP:0000545	Myopia
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000790	Hematuria
HP:0000822	Hypertension
HP:0000829	Hypoparathyroidism
HP:0000969	Edema
HP:0001134	Anterior polar cataract
HP:0001142	Lenticonus
HP:0001417	X-linked inheritance
HP:0001423	X-linked dominant inheritance
HP:0001873	Thrombocytopenia
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002148	Hypophosphatemia
HP:0002157	Azotemia
HP:0002315	Headache

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST001806_2	Corneal structure	1.000000e-09
GCST001821_4	Metabolite levels (5-HIAA/ MHPG Ratio)	9.000000e-06
GCST003219_38	Advanced age-related macular degeneration	3.000000e-08
GCST003818_66	Resting heart rate	2.000000e-12
GCST005170_23	Intraocular pressure	9.000000e-13
GCST005667_1	Central corneal thickness	1.000000e-13
GCST006976_52	Macular thickness	2.000000e-10
GCST008613_4	Hematuria	5.000000e-07
GCST008617_2	Hematuria (moderate to severe)	8.000000e-08
GCST009278_1	Diabetic nephropathy in type 1 diabetes	5.000000e-12
GCST009284_1	Macroalbuminuria in type 1 diabetes	9.000000e-09
GCST009289_1	Kidney disease (reduced eGFR and albuminuria or end stage renal disease) in type 1 diabetes	5.000000e-09
GCST009292_1	Kidney disease (end stage renal disease or albuminuria) in type 1 diabetes	4.000000e-10
GCST009414_7	Central corneal thickness	6.000000e-09
GCST010002_410	Refractive error	1.000000e-08
GCST90000654_7	Central corneal thickness	3.000000e-22

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004345	corneal topography
EFO:0005132	5-HIAA measurement
EFO:0005133	MHPG measurement
EFO:1001492	atrophic macular degeneration
EFO:0004695	intraocular pressure measurement
EFO:0005213	central corneal thickness
EFO:0004285	albuminuria

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D065766	Atypical Hemolytic Uremic Syndrome	C12.050.351.968.419.936.463.500; C12.200.777.419.936.463.500; C12.950.419.936.463.500; C15.378.050.141.610.500; C15.378.140.855.925.500.500; C15.378.243.937.925.500.500
D030342	Genetic Diseases, Inborn	C16.320
D005923	Glomerulosclerosis, Focal Segmental	C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D007674	Kidney Diseases	C12.050.351.968.419; C12.200.777.419; C12.950.419
D007676	Kidney Failure, Chronic	C12.050.351.968.419.780.750.500; C12.200.777.419.780.750.500; C12.950.419.780.750.500; C23.550.291.500.906.500
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
D011507	Proteinuria	C12.050.351.968.934.734; C12.200.777.934.734; C12.950.934.734; C23.888.942.750
C562476	Hematuria, Benign Familial (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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation, increases expression	4
Vorinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Plant Extracts	decreases reaction, increases abundance, decreases expression	2
triphenyl phosphate	affects expression	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
afimoxifene	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
vandetanib	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, increases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment, decreases expression	1
bisphenol S	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
excavatolide B	decreases expression	1
Zoledronic Acid	decreases expression	1
Cannabinoids	decreases expression, decreases reaction, increases abundance	1
Chelating Agents	affects binding, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Copper	affects binding, increases expression	1
Diazinon	increases methylation	1
Doxorubicin	increases expression	1
Fonofos	increases methylation	1
Estradiol	decreases expression	1
Mercury	increases expression	1

Cellosaurus cell lines

6 cell lines: 3 induced pluripotent stem cell, 2 cancer cell line, 1 conditionally immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A7GD	SDUBMSi006-A	Induced pluripotent stem cell	Female
CVCL_B1NW	Abcam HeLa COL4A3 KO	Cancer cell line	Female
CVCL_B5IU	NCKDi004-A	Induced pluripotent stem cell	Male
CVCL_C3G3	ASP1-UPIC	Conditionally immortalized cell line	Female
CVCL_E0AL	Ubigene HeLa COL4A3 KO	Cancer cell line	Female
CVCL_VD44	ESi054-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05655728	PHASE4	UNKNOWN	Treatment With Metformin in Chinese Children With Alport Syndrome
NCT06499948	PHASE4	ACTIVE_NOT_RECRUITING	Albuminuria Lowering Effect of Dapagliflozin, Spironolactone and Their Combination in Adult Patients With Alport Syndrome (COMBINE-ALPORT)
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT03749447	PHASE3	TERMINATED	An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE)
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00309257	PHASE2	COMPLETED	Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome
NCT02855268	PHASE2	TERMINATED	Study of Lademirsen (SAR339375) in Patients With Alport Syndrome
NCT04573920	PHASE2	ACTIVE_NOT_RECRUITING	Atrasentan in Patients With Proteinuric Glomerular Diseases
NCT05003986	PHASE2	RECRUITING	Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases
NCT05267262	PHASE2	COMPLETED	Study to Evaluate R3R01 in Patients With Alport Syndrome and Patients With Focal Segmental Glomerulosclerosis
NCT05448755	PHASE2	COMPLETED	A Study of ELX-02 in Patients With Alport Syndrome
NCT06425055	PHASE2	COMPLETED	Vonafexor ALPort Syndrome Efficacy & Safety TRIAl-1 (ALPESTRIA-1)
NCT07211685	PHASE2	RECRUITING	BAY3401016; Biomarker Study Alport
NCT07523581	PHASE2	NOT_YET_RECRUITING	EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT03373786	PHASE1	COMPLETED	A Study of RG-012 in Subjects With Alport Syndrome
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005