COL4A5
geneOn this page
Summary
COL4A5 (collagen type IV alpha 5 chain, HGNC:2207) is a protein-coding gene on chromosome Xq22.3, encoding Collagen alpha-5(IV) chain (P29400). 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. It is haploinsufficient (ClinGen: sufficient evidence).
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene.
Source: NCBI Gene 1287 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Alport syndrome (Definitive, ClinGen) — +1 more curated relationship
- Clinical variants (ClinVar): 3,508 total — 625 pathogenic, 658 likely-pathogenic
- Phenotypes (HPO): 56
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_033380
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2207 |
| Approved symbol | COL4A5 |
| Name | collagen type IV alpha 5 chain |
| Location | Xq22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000188153 |
| Ensembl biotype | protein_coding |
| OMIM | 303630 |
| Entrez | 1287 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 9 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000328300, ENST00000361603, ENST00000470339, ENST00000477429, ENST00000483338, ENST00000489230, ENST00000504541, ENST00000505728, ENST00000510690, ENST00000515658, ENST00000642185, ENST00000644079, ENST00000949141, ENST00000949142, ENST00000949143
RefSeq mRNA: 2 — MANE Select: NM_033380
NM_000495, NM_033380
CCDS: CCDS14543, CCDS35366
Canonical transcript exons
ENST00000328300 — 53 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001152517 | 108626210 | 108626349 |
| ENSE00001262874 | 108695267 | 108695439 |
| ENSE00001262884 | 108694807 | 108694921 |
| ENSE00001262981 | 108655331 | 108655457 |
| ENSE00001340002 | 108665507 | 108665587 |
| ENSE00001340048 | 108668319 | 108668504 |
| ENSE00001340050 | 108667133 | 108667183 |
| ENSE00001362206 | 108692748 | 108692925 |
| ENSE00001362209 | 108687482 | 108687694 |
| ENSE00001434905 | 108578291 | 108578383 |
| ENSE00001435010 | 108582884 | 108582937 |
| ENSE00001435129 | 108578078 | 108578119 |
| ENSE00001435244 | 108577952 | 108577987 |
| ENSE00001435302 | 108568759 | 108568821 |
| ENSE00001435451 | 108580983 | 108581027 |
| ENSE00001435485 | 108575910 | 108575972 |
| ENSE00001436068 | 108571811 | 108571837 |
| ENSE00001436285 | 108580682 | 108580738 |
| ENSE00001436434 | 108573574 | 108573654 |
| ENSE00001436548 | 108580533 | 108580586 |
| ENSE00001436663 | 108666496 | 108666594 |
| ENSE00001436779 | 108571413 | 108571466 |
| ENSE00001600586 | 108670228 | 108670236 |
| ENSE00001860956 | 108439838 | 108440206 |
| ENSE00003465267 | 108680885 | 108680956 |
| ENSE00003471758 | 108595509 | 108595601 |
| ENSE00003482829 | 108602964 | 108603061 |
| ENSE00003486836 | 108559064 | 108559153 |
| ENSE00003489323 | 108563882 | 108563926 |
| ENSE00003493604 | 108620259 | 108620426 |
| ENSE00003497266 | 108686031 | 108686129 |
| ENSE00003502643 | 108622676 | 108622825 |
| ENSE00003538467 | 108606742 | 108606892 |
| ENSE00003550123 | 108539746 | 108539805 |
| ENSE00003555831 | 108586615 | 108586747 |
| ENSE00003558371 | 108596998 | 108597068 |
| ENSE00003575967 | 108680679 | 108680751 |
| ENSE00003583814 | 108591058 | 108591231 |
| ENSE00003588347 | 108677500 | 108677633 |
| ENSE00003596104 | 108625705 | 108625794 |
| ENSE00003598869 | 108681760 | 108681888 |
| ENSE00003627141 | 108598702 | 108598870 |
| ENSE00003634688 | 108568629 | 108568673 |
| ENSE00003636495 | 108614911 | 108615024 |
| ENSE00003644068 | 108591561 | 108591644 |
| ENSE00003644175 | 108601393 | 108601485 |
| ENSE00003661167 | 108601885 | 108601989 |
| ENSE00003667613 | 108674745 | 108674753 |
| ENSE00003669472 | 108624236 | 108624334 |
| ENSE00003670092 | 108621803 | 108621892 |
| ENSE00003670660 | 108597377 | 108597568 |
| ENSE00003683504 | 108584484 | 108584525 |
| ENSE00003899112 | 108696297 | 108697545 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 99.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5852 / max 868.3864, expressed in 1106 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 197211 | 5.4443 | 1053 |
| 197216 | 1.1770 | 76 |
| 197212 | 0.8712 | 352 |
| 197220 | 0.5784 | 73 |
| 197218 | 0.5726 | 73 |
| 197213 | 0.4231 | 230 |
| 197214 | 0.1655 | 78 |
| 197210 | 0.0965 | 34 |
| 197219 | 0.0796 | 48 |
| 197209 | 0.0617 | 14 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 99.06 | gold quality |
| ventricular zone | UBERON:0003053 | 98.01 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.95 | gold quality |
| lower esophagus | UBERON:0013473 | 97.89 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.79 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.58 | gold quality |
| corpus callosum | UBERON:0002336 | 96.88 | gold quality |
| body of uterus | UBERON:0009853 | 96.73 | gold quality |
| urethra | UBERON:0000057 | 96.64 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.49 | gold quality |
| right uterine tube | UBERON:0001302 | 96.16 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 96.08 | gold quality |
| left uterine tube | UBERON:0001303 | 96.02 | gold quality |
| urinary bladder | UBERON:0001255 | 95.46 | gold quality |
| hair follicle | UBERON:0002073 | 95.46 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.39 | gold quality |
| blood vessel layer | UBERON:0004797 | 95.03 | gold quality |
| spinal cord | UBERON:0002240 | 94.97 | gold quality |
| myometrium | UBERON:0001296 | 94.94 | gold quality |
| endocervix | UBERON:0000458 | 94.84 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 94.84 | gold quality |
| inferior olivary complex | UBERON:0002127 | 94.61 | gold quality |
| caput epididymis | UBERON:0004358 | 94.02 | gold quality |
| popliteal artery | UBERON:0002250 | 94.01 | gold quality |
| tibial artery | UBERON:0007610 | 94.01 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.00 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.91 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 93.80 | gold quality |
| fundus of stomach | UBERON:0001160 | 93.70 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.39 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 75.14 |
| E-HCAD-25 | yes | 52.01 |
| E-CURD-119 | yes | 24.11 |
| E-ANND-3 | yes | 11.54 |
| E-MTAB-7249 | yes | 2.97 |
| E-CURD-10 | no | 222.69 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting COL4A5, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
Functional genomics
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- SSCP analysis in X-linked Alport syndrome (PMID:11462238)
- new point mutation in a Spanish family with X-linked Alport syndrome (PMID:11961405)
- an imbalance of glomerular alpha2(IV) and alpha5(IV) chain expression occurred in IgA nephropathy (PMID:12021518)
- thin basement membrane disease might be caused by an abnormality of the alpha5(IV) antigen along the glomerular basement membrane (PMID:12218303)
- human CA54 protein has a natural tendency towards variants (PMID:12732331)
- This study showed abnormal composition of alpha(IV) chains in the anterior lens capsule of a patient with anterior lenticonus caused by a nonsense mutation in the COL4A5 gene. (PMID:12796257)
- absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity (PMID:14514738)
- there is no correlation between the severity of the glomerular involvement (expressed by proteinuria) and the staining of the alpha 5 chain in the EBM in females with X-linked Alport syndrome. (PMID:14531812)
- We provide a first indication that highly specialized patterns characteristic of COL4A5-COL4A6 expression in vivo arise from effects of distributed cis-acting regulatory elements on a bidirectional proximal promoter, itself transcriptionally competent. (PMID:14592452)
- critical role of COL4A5 gene mutations in the pathogenesis of Alport’s syndrome. (PMID:14993485)
- Alport syndrome in French Polynesia is due to a founder mutation, a tandem duplication of 35 exons, that occurred onto a common haplotype (PMID:15149316)
- Collagen chains alpha5(IV) and alpha6(IV) were frequently absent in basement membrane from pancreatic adenocarcinoma, and their absence might be related to the invasion of cancer cells. (PMID:15211113)
- The predicted rates of AA substitutions for glycine were compared with missense mutations that have been observed to cause disease. Any Gly replacement will cause disease & the level of triple-helix destabilization determines clinical outcome. (PMID:15365990)
- distinctive patterns of expression of the alpha1 (IV) and alpha5 (IV) collagen chains may be related to the histogenic sudoral origin of cyli (PMID:15583824)
- COL4A5 mutations observed in evident X-linked Alport syndrome using genomic DNA. (PMID:15780079)
- novel mutations identified during routine molecular diagnostics for Alport syndrome (PMID:15954103)
- both COL12A1 and COL4A5 constitute good candidate target genes in the pathogenesis of subungual exostosis (PMID:16284948)
- The expression of the alpha5(IV)/alpha6(IV) chains was down-regulated in colorectal cancer, and the loss of expression of the alpha5(IV)/alpha6(IV) chains was associated with the hypermethylation of their promoter region. (PMID:16507901)
- analysis of conformational features of a natural break in the type IV collagen Gly-X-Y repeat (PMID:16613845)
- Immunolocalization of alpha5 type (IV)-chain collagen in the kidney may correspond to the severity of the clinical phenotype. (PMID:16940319)
- Twenty-one mutations in COL4A5 gene were identified in patients with Alport syndrome and they include four gross deletions, two deep intronic mutations, three frameshifts, three splice site mutations, eight missense mutations and one inframe deletion. (PMID:16941480)
- The cysteine to tyrosine substitution in the NC1 domain of the alpha5(IV) collagen chain in this family leads to a mild form of Alport syndrome, including absence of extra-renal features. (PMID:17277342)
- Ultrastructure of COL4A5 immunofluorescence staining of the glomerular basement membrane and Bowman capsule was demonstrated. In conrast, this protein was absent in the basement membrane of skin cells. (PMID:17294221)
- 16 novel mutations identified in COL4A3, COL4A4 & COL4A5 genes in Slovenian families with Alport syndrome(ATS)& benign familial hematuria; 12 mutations found in COL4A5 gene in ATS patients (9 missense, 1 splice site, 1 frameshift & 1 nonsense mutation) (PMID:17396119)
- Comparison of alpha5(IV) with alpha2(IV) expression in Alport patients is simple and eliminates technical artifacts. (PMID:17554254)
- These findings indicate that a defect in heterotrimer formation is the main molecular mechanism underlying the pathogenesis of AS caused by mutation in the NC1 domain. (PMID:18083113)
- combination of cDNA and MLPA analysis improves the mutation detection rate in COL4A5 and that MLPA should be the first step in genetic testing for X-linked AS (PMID:18616531)
- The co-detection of alpha5 and alpha2 chains of collagen IV in frozen skin biopsies is therefore proposed as a simple technique to diagnose Alport syndrome. (PMID:18706356)
- analysis of noncollagenous sites encoding specific interactions and quaternary assembly of alpha 3 alpha 4 alpha 5(IV) collagen (PMID:18930919)
- a novel splicing mutation of c.1517-1G to T in the COL4A5 gene causing Alport syndrome in a Chinese family (PMID:19065523)
- study reports on a family with atypical Alport disease initially presenting as hereditary focal and segmental glomerulosclerosis; a previously undescribed COL4A5 mutation was identified as cause of the disease (PMID:19281745)
- Aromatic residues greatly accelerate the kinetics of self-association in a typical sequence from the alpha5 chain of type IV collagen, decreasing lag time and leading to insoluble, well-defined linear fibrils as well as small soluble aggregates. (PMID:19610672)
- underlying COL4A5 (collagen type IV alpha 5) mutation, truncating or non-truncating, can significantly predict the age at End stage renal disease in male patients (PMID:19728970)
- An assay useful for mutations responsible for the most adult type Alport syndrome in the U.S. is recommended for testing individuals from families carrying one of the COL4A5 mutations tested: Cys1564Ser, Leu1649Arg or Arg1677Gln. (PMID:19919694)
- Severe mutations in male individuals with X-linked Alport syndrome are associated with the perimacular dot-and-fleck retinopathy. Furthermore, the retinopathy indicates that male individuals are at increased risk for renal failure before the age of 30 (PMID:19965530)
- younger age at onset of ESRD associated with mutations at the 5’ end of the gene (PMID:20378821)
- A curated disease-specific database containing reported sequence variants in COL4A5, was developed. (PMID:20574986)
- A novel COL4A5 mutation causes rapid progression to end-stage renal disease in males, despite the absence of clinical and biopsy findings associated with Alport syndrome. (PMID:20881942)
- expression of collagen type IV alpha5 chain in the smooth muscle BM of the gastrointestinal tract is restricted to the esophagus in humans (PMID:20951201)
- Identified mutations of the COL4A5 and COL4A3 gene in five Chinese Alport syndrome families. (PMID:21143337)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Col4a5 | ENSMUSG00000031274 |
| rattus_norvegicus | Col4a5 | ENSRNOG00000018951 |
Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)
Protein
Protein identifiers
Collagen alpha-5(IV) chain — P29400 (reviewed: P29400)
All UniProt accessions (6): A0A2R8Y5W0, P29400, H0Y998, H0Y9H0, H0Y9R8, Q49AM6
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.
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.
Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.
Tissue specificity. Isoform 2 is found in kidney.
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. 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.
Disease relevance. Alport syndrome 1, X-linked (ATS1) [MIM:301050] A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. 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. Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
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. Contains 2 extra G-X-X repeats into the triple-helix domain.
Similarity. Belongs to the type IV collagen family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P29400-1 | 1 | yes |
| P29400-2 | 2 |
RefSeq proteins (2): NP_000486, NP_203699* (*=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 |
| IPR050149 | Collagen_superfamily | Family |
Pfam: PF01391, PF01413
UniProt features (244 total): sequence variant 165, compositionally biased region 28, strand 20, disulfide bond 9, helix 7, sequence conflict 4, region of interest 3, cross-link 2, signal peptide 1, chain 1, domain 1, turn 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6WKU | X-RAY DIFFRACTION | 1.76 |
| 5NAZ | X-RAY DIFFRACTION | 1.85 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P29400-F1 | 49.04 | 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.
Post-translational modifications (2): 1549, 1667
Disulfide bonds (9): 451, 481, 484, 1476–1567, 1509–1564, 1521–1527, 1586–1681, 1620–1678, 1632–1638
Glycosylation sites (1): 125
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-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-9010553 | Regulation of expression of SLITs and ROBOs |
| R-HSA-9638630 | Attachment of bacteria to epithelial cells |
MSigDB gene sets: 364 (showing top):
VALK_AML_WITH_FLT3_ITD, GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, TGGTGCT_MIR29A_MIR29B_MIR29C, LEE_NEURAL_CREST_STEM_CELL_DN, MULLIGHAN_NPM1_SIGNATURE_3_UP, BENPORATH_ES_WITH_H3K27ME3, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOCC_COLLAGEN_TRIMER, GOZGIT_ESR1_TARGETS_DN, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, HNF1_Q6, AAAYRNCTG_UNKNOWN
GO Biological Process (3): neuromuscular junction development (GO:0007528), collagen fibril organization (GO:0030199), collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)
GO Molecular Function (3): extracellular matrix structural constituent conferring tensile strength (GO:0030020), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), collagen type IV trimer (GO:0005587), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), neuromuscular junction (GO:0031594), collagen trimer (GO:0005581), basement membrane (GO:0005604)
Reactome top-level categories
Rollup of top-9 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 |
| Signaling by ROBO receptors | 1 |
| Biofilm formation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| extracellular matrix | 2 |
| synapse organization | 1 |
| extracellular matrix organization | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| collagen-activated signaling pathway | 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 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| external encapsulating structure | 1 |
| synapse | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1650 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COL4A5 | BECN1 | Q14457 | 944 |
| COL4A5 | AMMECR1 | Q9Y4X0 | 849 |
| COL4A5 | ATG14 | Q6ZNE5 | 811 |
| COL4A5 | ACSL4 | O60488 | 806 |
| COL4A5 | IGBP1 | P78318 | 796 |
| COL4A5 | KCNE5 | Q9UJ90 | 700 |
| COL4A5 | NPHS1 | O60500 | 652 |
| COL4A5 | LAMA5 | O15230 | 646 |
| COL4A5 | COL1A1 | P02452 | 641 |
| COL4A5 | NID1 | P14543 | 641 |
| COL4A5 | COL3A1 | P02461 | 639 |
| COL4A5 | COL1A2 | P02464 | 612 |
| COL4A5 | CD151 | P48509 | 577 |
| COL4A5 | NPHS2 | Q9NP85 | 577 |
| COL4A5 | COL6A3 | P12111 | 534 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STRN3 | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| COLGALT2 | COL1A1 | psi-mi:“MI:0914”(association) | 0.530 |
| COL4A5 | KLK6 | psi-mi:“MI:0570”(protein cleavage) | 0.440 |
| COL4A5 | ANXA7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COL4A5 | CDKN1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| COL4A5 | DAZAP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COL4A5 | NR1H2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COL4A5 | SMN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TK1 | COL4A5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CEP170P1 | PCYT1A | psi-mi:“MI:0914”(association) | 0.350 |
| KIF21B | psi-mi:“MI:0914”(association) | 0.350 | |
| Lgals3bp | CS | psi-mi:“MI:0914”(association) | 0.350 |
| DAP3 | MBNL1 | psi-mi:“MI:0914”(association) | 0.350 |
| Washc1 | COX7A2 | psi-mi:“MI:0914”(association) | 0.350 |
| VPS26B | KIF1B | psi-mi:“MI:0914”(association) | 0.350 |
| Esrrb | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| PDK1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| KNL1 | SPC24 | psi-mi:“MI:0914”(association) | 0.350 |
| SGK3 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| P4HA1 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| PLOD1 | PLK4 | psi-mi:“MI:0914”(association) | 0.350 |
| COL8A2 | P4HA2 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| FMR1 | COL4A5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF10 | COL4A5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (62): COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), COL4A5 (Affinity Capture-RNA), COL4A5 (Two-hybrid)
ESM2 similar proteins: A0MSJ1, A8WR59, B8V7R6, C0HLN2, O76368, O88207, P02462, P02463, P08120, P08122, P08125, P08572, P12106, P12107, P12108, P13942, P20849, P20850, P20908, P20909, P23206, P25067, P25318, P25940, P29400, P32017, P53420, P55787, Q01955, Q03692, Q05306, Q05722, Q07643, Q0VF58, Q14031, Q14050, Q14055, Q14993, Q28083, Q28247
Diamond homologs: P02462, P02463, P08120, P08122, P08572, P17139, P17140, P27393, P29400, P53420, P55787, Q01955, Q14031, Q28084, Q28247, Q29442, Q7SIB2, Q7SIB3, Q9QZR9, Q9QZS0
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| COL4A5 | up-regulates | ECM_synthesis | |
| COL4A5 | “up-regulates activity” | “A1/b1 integrin” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 40 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Collagen biosynthesis and modifying enzymes | 6 | 37.9× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
3508 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 625 |
| Likely pathogenic | 658 |
| Uncertain significance | 599 |
| Likely benign | 876 |
| Benign | 130 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 10453 | NG_011977.2:g.(239831_242576)_(252772_257824)del | Pathogenic |
| 10455 | COL4A5, 10-15-KB INS, 40-KB DEL | Pathogenic |
| 10456 | NG_011977.2:g.(246966_251107)_?del | Pathogenic |
| 10457 | NG_011977.2:g.?_(146097_162513)del | Pathogenic |
| 10458 | NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) | Pathogenic |
| 10462 | NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys) | Pathogenic |
| 10463 | NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) | Pathogenic |
| 10465 | NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) | Pathogenic |
| 1053313 | NM_033380.3(COL4A5):c.4632G>C (p.Trp1544Cys) | Pathogenic |
| 1066187 | NM_033380.3(COL4A5):c.4015+2T>C | Pathogenic |
| 1066898 | NM_033380.3(COL4A5):c.3827G>A (p.Gly1276Asp) | Pathogenic |
| 1069146 | NM_033380.3(COL4A5):c.3373G>C (p.Gly1125Arg) | Pathogenic |
| 1069768 | NM_033380.3(COL4A5):c.2786del (p.Gly929fs) | Pathogenic |
| 1069897 | NM_033380.3(COL4A5):c.136G>T (p.Glu46Ter) | Pathogenic |
| 1070099 | NM_033380.3(COL4A5):c.2262del (p.Leu755fs) | Pathogenic |
| 1070103 | NM_033380.3(COL4A5):c.5023G>T (p.Gly1675Ter) | Pathogenic |
| 1070190 | NM_033380.3(COL4A5):c.3491G>A (p.Gly1164Asp) | Pathogenic |
| 1070191 | NM_033380.3(COL4A5):c.3922C>T (p.Gln1308Ter) | Pathogenic |
| 1070192 | NM_033380.3(COL4A5):c.4462C>T (p.Gln1488Ter) | Pathogenic |
| 1070457 | NM_033380.3(COL4A5):c.994C>T (p.Gln332Ter) | Pathogenic |
| 1071493 | NM_033380.3(COL4A5):c.2042-1G>A | Pathogenic |
| 1072212 | NM_033380.3(COL4A5):c.781-2A>G | Pathogenic |
| 1072610 | NM_033380.3(COL4A5):c.834+1G>C | Pathogenic |
| 1072617 | NM_033380.3(COL4A5):c.3932del (p.Pro1311fs) | Pathogenic |
| 1072947 | NM_033380.3(COL4A5):c.4079G>A (p.Gly1360Asp) | Pathogenic |
| 1073029 | NM_033380.3(COL4A5):c.67_81+1del | Pathogenic |
| 1073034 | NM_033380.3(COL4A5):c.1940G>T (p.Gly647Val) | Pathogenic |
| 1073265 | NM_033380.3(COL4A5):c.4706+2T>C | Pathogenic |
| 1073728 | NM_033380.3(COL4A5):c.1033-1_1033insAAATTCCCAG | Pathogenic |
| 1073886 | NM_033380.3(COL4A5):c.1633G>A (p.Gly545Ser) | Pathogenic |
SpliceAI
6714 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:108440202:CTGCG:C | donor_gain | 1.0000 |
| X:108440204:GCG:G | donor_gain | 1.0000 |
| X:108440204:GCGGT:G | donor_loss | 1.0000 |
| X:108440206:GGTAA:G | donor_loss | 1.0000 |
| X:108440207:G:GA | donor_loss | 1.0000 |
| X:108440207:G:GG | donor_gain | 1.0000 |
| X:108440208:TAAG:T | donor_loss | 1.0000 |
| X:108559058:TTGCA:T | acceptor_loss | 1.0000 |
| X:108559059:TGCAG:T | acceptor_loss | 1.0000 |
| X:108559060:GCAGG:G | acceptor_loss | 1.0000 |
| X:108559062:AG:A | acceptor_gain | 1.0000 |
| X:108559063:G:A | acceptor_loss | 1.0000 |
| X:108559063:GG:G | acceptor_gain | 1.0000 |
| X:108559063:GGGA:G | acceptor_gain | 1.0000 |
| X:108559154:G:GA | donor_loss | 1.0000 |
| X:108563927:G:GG | donor_gain | 1.0000 |
| X:108568623:TTATA:T | acceptor_loss | 1.0000 |
| X:108568625:ATAG:A | acceptor_gain | 1.0000 |
| X:108568626:TA:T | acceptor_loss | 1.0000 |
| X:108568627:A:AG | acceptor_gain | 1.0000 |
| X:108568627:A:AT | acceptor_loss | 1.0000 |
| X:108568627:AG:A | acceptor_gain | 1.0000 |
| X:108568628:G:GG | acceptor_gain | 1.0000 |
| X:108568628:GG:G | acceptor_gain | 1.0000 |
| X:108568672:CT:C | donor_gain | 1.0000 |
| X:108568672:CTGT:C | donor_loss | 1.0000 |
| X:108568673:TGTA:T | donor_loss | 1.0000 |
| X:108568674:G:A | donor_loss | 1.0000 |
| X:108568674:G:GG | donor_gain | 1.0000 |
| X:108568675:T:A | donor_loss | 1.0000 |
AlphaMissense
10607 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:108692851:G:C | W1538C | 1.000 |
| X:108692851:G:T | W1538C | 1.000 |
| X:108694900:G:C | W1594C | 1.000 |
| X:108694900:G:T | W1594C | 1.000 |
| X:108696352:T:A | C1678S | 1.000 |
| X:108696353:G:C | C1678S | 1.000 |
| X:108696354:T:G | C1678W | 1.000 |
| X:108692759:A:C | S1508R | 0.999 |
| X:108692761:C:A | S1508R | 0.999 |
| X:108692761:C:G | S1508R | 0.999 |
| X:108692816:T:A | C1527S | 0.999 |
| X:108692817:G:C | C1527S | 0.999 |
| X:108692849:T:A | W1538R | 0.999 |
| X:108692849:T:C | W1538R | 0.999 |
| X:108692853:T:C | L1539P | 0.999 |
| X:108692921:A:C | S1562R | 0.999 |
| X:108692923:T:A | S1562R | 0.999 |
| X:108692923:T:G | S1562R | 0.999 |
| X:108694810:T:G | C1564W | 0.999 |
| X:108694817:T:A | C1567S | 0.999 |
| X:108694818:G:C | C1567S | 0.999 |
| X:108694874:T:A | C1586S | 0.999 |
| X:108694874:T:C | C1586R | 0.999 |
| X:108694875:G:C | C1586S | 0.999 |
| X:108694888:G:C | W1590C | 0.999 |
| X:108694888:G:T | W1590C | 0.999 |
| X:108694905:G:A | G1596D | 0.999 |
| X:108694911:C:T | S1598F | 0.999 |
| X:108695321:T:A | C1620S | 0.999 |
| X:108695321:T:C | C1620R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000000615 (X:108483806 G>A), RS1000058920 (X:108632566 G>A,C,T), RS1000063262 (X:108552613 A>G), RS1000064411 (X:108620696 C>G,T), RS1000087575 (X:108619427 C>G), RS1000089031 (X:108468972 C>G), RS1000109709 (X:108554797 G>A), RS1000136763 (X:108543584 G>A,T), RS1000151638 (X:108493198 A>T), RS1000170968 (X:108587819 G>A,C), RS1000172362 (X:108664401 A>G), RS1000180264 (X:108511849 A>G), RS1000212766 (X:108512425 T>G), RS1000213158 (X:108519501 A>G), RS1000244684 (X:108459558 A>G)
Disease associations
OMIM: gene MIM:303630 | disease phenotypes: MIM:301050, MIM:104200, MIM:606232, MIM:125000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Alport syndrome | Definitive | X-linked |
| X-linked Alport syndrome | Definitive | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Alport syndrome | Definitive | XL |
Mondo (17): X-linked Alport syndrome (MONDO:0010520), Alport syndrome (MONDO:0018965), kidney disorder (MONDO:0005240), nonsyndromic genetic hearing loss (MONDO:0019497), autosomal dominant Alport syndrome (MONDO:0007086), Phelan-McDermid syndrome (MONDO:0011652), focal segmental glomerulosclerosis (MONDO:0100313), hypertensive disorder (MONDO:0005044), glomerular disorder (MONDO:0019722), atypical hemolytic-uremic syndrome (MONDO:0016244), nephrotic syndrome (MONDO:0005377), hearing loss disorder (MONDO:0005365), proteinuria (MONDO:0003634), deafness, unilateral (MONDO:0007426), chronic kidney disease (MONDO:0005300)
Orphanet (10): Alport syndrome (Orphanet:63), X-linked Alport syndrome (Orphanet:88917), Rare non-syndromic genetic deafness (Orphanet:87884), Autosomal dominant Alport syndrome (Orphanet:88918), Phelan-McDermid syndrome (Orphanet:48652), Glomerular disease (Orphanet:93548), Atypical hemolytic uremic syndrome (Orphanet:2134), Rare genetic deafness (Orphanet:96210), OBSOLETE: Isolated macular dystrophy (Orphanet:519302), Rare disease with thoracic aortic aneurysm and aortic dissection (Orphanet:285014)
HPO phenotypes
56 total (30 of 56 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000123 | Nephritis |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000478 | Abnormality of the eye |
| HP:0000491 | Keratitis |
| HP:0000518 | Cataract |
| HP:0000519 | Developmental cataract |
| HP:0000545 | Myopia |
| HP:0000790 | Hematuria |
| HP:0000822 | Hypertension |
| HP:0000829 | Hypoparathyroidism |
| HP:0001142 | Lenticonus |
| HP:0001417 | X-linked inheritance |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001508 | Failure to thrive |
| HP:0001824 | Weight loss |
| HP:0001873 | Thrombocytopenia |
| HP:0002013 | Vomiting |
| HP:0002015 | Dysphagia |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002031 | Abnormal esophagus morphology |
| HP:0002094 | Dyspnea |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002571 | Achalasia |
| HP:0002907 | Microscopic hematuria |
| HP:0003262 | Anti-smooth muscle antibody positivity |
| HP:0003676 | Progressive |
GWAS associations
0 associations (top):
MeSH disease descriptors (10)
| 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 |
| 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 |
| D006973 | Hypertension | C14.907.489 |
| 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 |
| C580334 | Nonsyndromic Deafness (supp.) | |
| C536801 | Telomeric 22q13 Monosomy Syndrome (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
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 3 |
| Benzo(a)pyrene | affects methylation | 2 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| selenomethylselenocysteine | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects methylation | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sulforaphane | decreases expression, increases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| methacrylaldehyde | affects cotreatment, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | affects response to substance | 1 |
| Curcumin | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Methapyrilene | affects methylation | 1 |
| Ozone | affects cotreatment, increases expression | 1 |
| Parabens | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
22 cell lines: 14 induced pluripotent stem cell, 4 cancer cell line, 2 conditionally immortalized cell line, 1 embryonic stem cell, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1WM | NCKDi001-A | Induced pluripotent stem cell | Male |
| CVCL_A1XT | WMUi015-A | Induced pluripotent stem cell | Male |
| CVCL_A4VC | GWCMCi002-A | Induced pluripotent stem cell | Male |
| CVCL_A7GE | SDUBMSi007-A | Induced pluripotent stem cell | Male |
| CVCL_A7GF | SDUBMSi008-A | Induced pluripotent stem cell | Male |
| CVCL_A7NC | WAe009-A-58 | Embryonic stem cell | Female |
| CVCL_B1NY | Abcam HeLa COL4A5 KO | Cancer cell line | Female |
| CVCL_C3G4 | ASP2-UPIC | Conditionally immortalized cell line | Female |
| CVCL_C3G5 | ASP3-UPIC | Conditionally immortalized cell line | Male |
| CVCL_D9C9 | Ubigene HEK293 COL4A5 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
299 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) |
| NCT00067990 | PHASE4 | COMPLETED | Angiotensin II Blockade for Chronic Allograft Nephropathy |
| NCT00117078 | PHASE4 | COMPLETED | Aranesp® Monthly Preference Study - 2 |
| NCT00117130 | PHASE4 | COMPLETED | Study to Evaluate Effectiveness of Aranesp® |
| NCT00132431 | PHASE4 | COMPLETED | START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism |
| NCT00140985 | PHASE4 | COMPLETED | Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213) |
| NCT00246129 | PHASE4 | COMPLETED | CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation |
| NCT00275535 | PHASE4 | COMPLETED | The Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients |
| NCT00282217 | PHASE4 | COMPLETED | Study Evaluating Sirolimus in the Treatment of Kidney Transplant |
| NCT00289614 | PHASE4 | COMPLETED | Patients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT) |
| NCT00290069 | PHASE4 | UNKNOWN | Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA) |
| NCT00338468 | PHASE4 | TERMINATED | A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa) |
| NCT00368901 | PHASE4 | COMPLETED | STAAR-2 Clinical Study |
| NCT00369733 | PHASE4 | COMPLETED | STAAR-3 Clinical Study |
| NCT00369772 | PHASE4 | COMPLETED | STAAR-1 Clinical Study |
| NCT00379899 | PHASE4 | COMPLETED | ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis |
| NCT00443508 | PHASE4 | UNKNOWN | Reduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion |
| NCT00452478 | PHASE4 | TERMINATED | Conversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5 |
| NCT00492518 | PHASE4 | COMPLETED | Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy |
| NCT00505102 | PHASE4 | UNKNOWN | Safe Renal Function In Long Term Heart Transplanted Patients |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00688480 | PHASE4 | COMPLETED | Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction? |
| NCT00863707 | PHASE4 | COMPLETED | A Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment |
| NCT01101698 | PHASE4 | UNKNOWN | Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients |
| NCT01150201 | PHASE4 | COMPLETED | Aliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease |
| NCT01155141 | PHASE4 | COMPLETED | Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH |
| NCT01228279 | PHASE4 | COMPLETED | Sympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis |
| NCT01334333 | PHASE4 | COMPLETED | Comparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients |
| NCT01437943 | PHASE4 | TERMINATED | Effect of Short Term Aliskiren Treatment in Kidney Transplant Patients |
| NCT01545479 | PHASE4 | COMPLETED | Increased Renal Oxygenation and Angiotensin Converting Enzyme Inhibition |
| NCT01614431 | PHASE4 | COMPLETED | N Acetyl Cysteine for Cystinosis Patients |
| NCT01631149 | PHASE4 | COMPLETED | Effect of Deep BLock on Intraoperative Surgical Conditions |
| NCT01722513 | PHASE4 | UNKNOWN | Efficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy |
| NCT01985360 | PHASE4 | COMPLETED | ISCHEMIA-Chronic Kidney Disease Trial |
| NCT02311010 | PHASE4 | UNKNOWN | Practical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism |
| NCT02413073 | PHASE4 | COMPLETED | Whole Body Vibration in Kidney Disease |
| NCT02444013 | PHASE4 | UNKNOWN | Folic Acid for Prevention of Contrast Induced Nephropathy |
| NCT02663713 | PHASE4 | COMPLETED | A Randomized, Pharmacodynamic Comparison of Low Dose Ticagrelor to Clopidogrel in Patients With Prior Myocardial Infarction |
| NCT02707809 | PHASE4 | COMPLETED | Effects of Dexmedetomidine on Microcirculation of Kidney Transplant Recipient |
Related Atlas pages
- Associated diseases: Alport syndrome, X-linked Alport syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alport syndrome, atypical hemolytic-uremic syndrome, autosomal dominant Alport syndrome, deafness, unilateral, focal segmental glomerulosclerosis, glomerular disorder, isolated macular dystrophy, kidney disorder, nephrotic syndrome, Phelan-McDermid syndrome, proteinuria, steroid-resistant nephrotic syndrome, X-linked Alport syndrome