COL11A2
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Also known as HKE5
Summary
COL11A2 (collagen type XI alpha 2 chain, HGNC:2187) is a protein-coding gene on chromosome 6p21.32, encoding Collagen alpha-2(XI) chain (P13942). May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6.
Source: NCBI Gene 1302 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +8 more curated relationships
- GWAS associations: 13
- Clinical variants (ClinVar): 3,179 total — 109 pathogenic, 70 likely-pathogenic
- Phenotypes (HPO): 103
- Druggable target: yes
- MANE Select transcript:
NM_080680
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2187 |
| Approved symbol | COL11A2 |
| Name | collagen type XI alpha 2 chain |
| Location | 6p21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HKE5 |
| Ensembl gene | ENSG00000204248 |
| Ensembl biotype | protein_coding |
| OMIM | 120290 |
| Entrez | 1302 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000341947, ENST00000361917, ENST00000374708, ENST00000395194, ENST00000477772, ENST00000682718, ENST00000683572, ENST00000930121, ENST00000930122
RefSeq mRNA: 9 — MANE Select: NM_080680
NM_001163771, NM_001424108, NM_001424109, NM_001424110, NM_001424111, NM_001424112, NM_080679, NM_080680, NM_080681
CCDS: CCDS43452, CCDS54992
Canonical transcript exons
ENST00000341947 — 66 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001591917 | 33180258 | 33180332 |
| ENSE00001593142 | 33167426 | 33167533 |
| ENSE00001593801 | 33168519 | 33168572 |
| ENSE00001597212 | 33174011 | 33174055 |
| ENSE00001609033 | 33176433 | 33176486 |
| ENSE00001611495 | 33186627 | 33186818 |
| ENSE00001614950 | 33173502 | 33173555 |
| ENSE00001619060 | 33178435 | 33178488 |
| ENSE00001619517 | 33179719 | 33179805 |
| ENSE00001626108 | 33166720 | 33166827 |
| ENSE00001628318 | 33185701 | 33185778 |
| ENSE00001628677 | 33169831 | 33169884 |
| ENSE00001637522 | 33176259 | 33176303 |
| ENSE00001638395 | 33170047 | 33170100 |
| ENSE00001639420 | 33179073 | 33179126 |
| ENSE00001644841 | 33165931 | 33165984 |
| ENSE00001649396 | 33180964 | 33181005 |
| ENSE00001651242 | 33175574 | 33175681 |
| ENSE00001654686 | 33171713 | 33171820 |
| ENSE00001656329 | 33167264 | 33167317 |
| ENSE00001657383 | 33173348 | 33173401 |
| ENSE00001657965 | 33178308 | 33178352 |
| ENSE00001661993 | 33178920 | 33178973 |
| ENSE00001662669 | 33169383 | 33169490 |
| ENSE00001662847 | 33189320 | 33189469 |
| ENSE00001669897 | 33176992 | 33177045 |
| ENSE00001675003 | 33170557 | 33170610 |
| ENSE00001683081 | 33173701 | 33173745 |
| ENSE00001686146 | 33180668 | 33180730 |
| ENSE00001694501 | 33170810 | 33170917 |
| ENSE00001695581 | 33168955 | 33169008 |
| ENSE00001697052 | 33178679 | 33178732 |
| ENSE00001700159 | 33168706 | 33168759 |
| ENSE00001700512 | 33171114 | 33171167 |
| ENSE00001700606 | 33179231 | 33179284 |
| ENSE00001703905 | 33172289 | 33172378 |
| ENSE00001711154 | 33188978 | 33189188 |
| ENSE00001715928 | 33173060 | 33173113 |
| ENSE00001716900 | 33171271 | 33171324 |
| ENSE00001720958 | 33192159 | 33192467 |
| ENSE00001722047 | 33170326 | 33170379 |
| ENSE00001727720 | 33174527 | 33174580 |
| ENSE00001734399 | 33172050 | 33172103 |
| ENSE00001743451 | 33184145 | 33184324 |
| ENSE00001748428 | 33188362 | 33188524 |
| ENSE00001750553 | 33167070 | 33167123 |
| ENSE00001751603 | 33176016 | 33176069 |
| ENSE00001755693 | 33179431 | 33179487 |
| ENSE00001760832 | 33174165 | 33174218 |
| ENSE00001762215 | 33184992 | 33185054 |
| ENSE00001768778 | 33166171 | 33166206 |
| ENSE00001769361 | 33167799 | 33167852 |
| ENSE00001778927 | 33166513 | 33166566 |
| ENSE00001779499 | 33171467 | 33171574 |
| ENSE00001784208 | 33173873 | 33173926 |
| ENSE00001786461 | 33181111 | 33181170 |
| ENSE00001788381 | 33176721 | 33176765 |
| ENSE00001788499 | 33172530 | 33172637 |
| ENSE00003544722 | 33177181 | 33177225 |
| ENSE00003547073 | 33177662 | 33177706 |
| ENSE00003551264 | 33177412 | 33177465 |
| ENSE00003556456 | 33164267 | 33164473 |
| ENSE00003574544 | 33165549 | 33165816 |
| ENSE00003634445 | 33164852 | 33164964 |
| ENSE00003784884 | 33178132 | 33178185 |
| ENSE00003897062 | 33162694 | 33163818 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 88.77.
FANTOM5 (CAGE): breadth broad, TPM avg 4.4334 / max 632.0300, expressed in 318 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73100 | 4.1706 | 258 |
| 73090 | 0.1013 | 66 |
| 73097 | 0.0489 | 16 |
| 73099 | 0.0437 | 14 |
| 73098 | 0.0385 | 11 |
| 73091 | 0.0192 | 4 |
| 73096 | 0.0112 | 6 |
Top tissues by expression
148 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pituitary gland | UBERON:0000007 | 88.77 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.70 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.53 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.95 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.55 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.46 | gold quality |
| cerebellum | UBERON:0002037 | 85.82 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 81.96 | gold quality |
| spinal cord | UBERON:0002240 | 81.93 | gold quality |
| putamen | UBERON:0001874 | 78.85 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.72 | gold quality |
| substantia nigra | UBERON:0002038 | 77.71 | gold quality |
| Ammon’s horn | UBERON:0001954 | 77.25 | gold quality |
| central nervous system | UBERON:0001017 | 76.73 | gold quality |
| brain | UBERON:0000955 | 76.55 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 76.32 | gold quality |
| caudate nucleus | UBERON:0001873 | 76.30 | gold quality |
| nucleus accumbens | UBERON:0001882 | 75.89 | gold quality |
| left testis | UBERON:0004533 | 75.80 | gold quality |
| right testis | UBERON:0004534 | 75.48 | gold quality |
| primary visual cortex | UBERON:0002436 | 75.44 | gold quality |
| hypothalamus | UBERON:0001898 | 75.31 | gold quality |
| amygdala | UBERON:0001876 | 74.89 | gold quality |
| testis | UBERON:0000473 | 74.74 | gold quality |
| temporal lobe | UBERON:0001871 | 74.55 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 74.34 | gold quality |
| ventricular zone | UBERON:0003053 | 74.11 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 73.16 | gold quality |
| cortical plate | UBERON:0005343 | 73.08 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 72.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | no | 49.88 |
| E-ANND-3 | no | 0.91 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, ERG, EWSR1, HMGA2, MAF, SOX10, SOX9, SP1, SP3, SP7, ZNF219, ZNF250, ZNF263
miRNA regulators (miRDB)
12 targeting COL11A2, 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-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-3929 | 98.32 | 65.58 | 1026 |
| HSA-MIR-3162-5P | 95.67 | 67.53 | 794 |
Literature-anchored findings (GeneRIF, showing 29)
- differential regulation by EWS/ERG sarcoma fusion protein and wild-type ERG (PMID:12554743)
- sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes. (PMID:12673280)
- Mutation in the COL11A2 gene was found in all affected individuals, which lends molecular support to the clinical notion that autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) and otospondylomegaepiphyseal dysplasia (OSMED)are a single entity. (PMID:15558753)
- mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases (PMID:16033917)
- COL11A2 transcription is regulated by Sp1 proteins and by binding to its proximal promoter (PMID:16734381)
- This study is the first to show that collagen XI is present in the Golgi apparatus of normal human colon goblet cells and localizes collagen XI in both normal and malignant tissue. (PMID:18040076)
- diagnosis ofOtospondylomegaepiphyseal dysplasia was diagnosed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. (PMID:18381781)
- individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions (PMID:20618517)
- implication of IRF6, COL2A1, and WNT3 in occurrence of nonsyndromic cleft palate (NSCP); likely variation in cartilage collagen II and XI genes, IRF6, and Wnt and FGF signal pathway genes contributes susceptibility to NSCP in Northeast Europe populations (PMID:20672350)
- A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. (PMID:21204229)
- four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2. (PMID:21293383)
- The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified. (PMID:22112025)
- These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2 (PMID:22246659)
- Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees. (PMID:22796475)
- results show that this gene interacts collagen x1 encoded genes to modulate the risk for AT (PMID:23624467)
- Expanded spectrum of mutations in the COL11A1 and COL11A2 genes in Stickler syndrome. (PMID:25240749)
- Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein. (PMID:25633957)
- A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome. (PMID:25780254)
- Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] (PMID:27142990)
- Missense mutations in COL6A1, COL11A2, FGFR1, and BMP2 genetically predispose patients to ossification of posterior longitudinal ligaments. (PMID:27246988)
- that the COL11A2 gene, which has previously been associated with familial osteoarthritis, may play a role in pain sensitization after the development of osteoarthritis (PMID:28741447)
- Mutation in COL11A2 gene is associated with Stargardt disease as well as Stickler’s Syndrome . (PMID:30156925)
- rs986522(C) significantly increased the risk of lumbar disc degeneration in Chinese Han females. (PMID:30548218)
- Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population. (PMID:32396528)
- Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. (PMID:33348901)
- Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes. (PMID:34009784)
- The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements. (PMID:36553626)
- COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. (PMID:37462524)
- Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort. (PMID:37646720)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | col11a2 | ENSDARG00000012422 |
| mus_musculus | Col11a2 | ENSMUSG00000024330 |
| rattus_norvegicus | Col11a2 | ENSRNOG00000000463 |
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), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)
Protein
Protein identifiers
Collagen alpha-2(XI) chain — P13942 (reviewed: P13942)
All UniProt accessions (4): P13942, A0A0C4DFS1, H0YIS1, Q4VXY6
UniProt curated annotations — full annotation on UniProt →
Function. May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
Subunit / interactions. Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II).
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Post-translational modifications. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.
Disease relevance. Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA) [MIM:184840] An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. The disease is caused by variants affecting the gene represented in this entry. Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB) [MIM:215150] An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. The disease is caused by variants affecting the gene represented in this entry. Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry. Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706] A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry. Fibrochondrogenesis 2 (FBCG2) [MIM:614524] A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. 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 (9)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P13942-1 | 1 | yes |
| P13942-2 | 2 | |
| P13942-3 | 3 | |
| P13942-4 | 4 | |
| P13942-5 | 5 | |
| P13942-6 | 6 | |
| P13942-7 | 7 | |
| P13942-8 | 8 | |
| P13942-9 | 9 |
RefSeq proteins (9): NP_001157243, NP_001411037, NP_001411038, NP_001411039, NP_001411040, NP_001411041, NP_542410, NP_542411, NP_542412 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000885 | Fib_collagen_C | Domain |
| IPR001791 | Laminin_G | Domain |
| IPR008160 | Collagen | Repeat |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR048287 | TSPN-like_N | Domain |
| IPR050149 | Collagen_superfamily | Family |
Pfam: PF01391, PF01410, PF02210
UniProt features (95 total): compositionally biased region 23, sequence variant 19, sequence conflict 19, domain 10, region of interest 5, binding site 5, disulfide bond 5, splice variant 5, signal peptide 1, chain 1, propeptide 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P13942-F1 | 50.18 | 0.13 |
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): 1589; 1591; 1592; 1594; 1597
Disulfide bonds (5): 1571–1603, 1577, 1594, 1612–1733, 1655–1689
Glycosylation sites (1): 1604
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-1442490 | Collagen degradation |
| R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| R-HSA-2022090 | Assembly of collagen fibrils and other multimeric structures |
| R-HSA-3000171 | Non-integrin membrane-ECM 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: 417 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, CREL_01, CHIBA_RESPONSE_TO_TSA_UP, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOCC_COLLAGEN_TRIMER, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, AP2_Q3, GGGTGGRR_PAX4_03, NKX61_01, NFKB_C, IRF7_01
GO Biological Process (9): skeletal system development (GO:0001501), sensory perception of sound (GO:0007605), collagen fibril organization (GO:0030199), cartilage development (GO:0051216), roof of mouth development (GO:0060021), soft palate development (GO:0060023), tissue homeostasis (GO:0001894), chondrocyte differentiation (GO:0002062), skeletal system morphogenesis (GO:0048705)
GO Molecular Function (5): extracellular matrix structural constituent conferring tensile strength (GO:0030020), protein-macromolecule adaptor activity (GO:0030674), metal ion binding (GO:0046872), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), collagen type II trimer (GO:0005585), collagen type XI trimer (GO:0005592), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), collagen trimer (GO:0005581), ribosome (GO:0005840)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Collagen formation | 2 |
| Degradation of the extracellular matrix | 1 |
| Extracellular matrix organization | 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 |
|---|---|
| skeletal system development | 2 |
| anatomical structure development | 2 |
| fibrillar collagen trimer | 2 |
| system development | 1 |
| sensory perception of mechanical stimulus | 1 |
| extracellular matrix organization | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| secondary palate development | 1 |
| multicellular organismal-level homeostasis | 1 |
| anatomical structure homeostasis | 1 |
| cell differentiation | 1 |
| cartilage development | 1 |
| animal organ morphogenesis | 1 |
| extracellular matrix structural constituent | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| cation binding | 1 |
| structural molecule activity | 1 |
| extracellular matrix | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| external encapsulating structure | 1 |
| protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1562 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COL11A2 | LHFPL5 | Q8TAF8 | 856 |
| COL11A2 | COL2A1 | P02458 | 840 |
| COL11A2 | RXRB | P28702 | 804 |
| COL11A2 | HSD17B8 | Q92506 | 798 |
| COL11A2 | KIFC1 | Q9BW19 | 795 |
| COL11A2 | RGL2 | O15211 | 786 |
| COL11A2 | RPS18 | P25232 | 786 |
| COL11A2 | SLC39A7 | Q92504 | 780 |
| COL11A2 | PFDN6 | O15212 | 702 |
| COL11A2 | HAPLN1 | P10915 | 680 |
| COL11A2 | RING1 | Q06587 | 660 |
| COL11A2 | PCOLCE | Q15113 | 636 |
| COL11A2 | COL5A1 | P20908 | 622 |
| COL11A2 | MIA | Q16674 | 608 |
| COL11A2 | LHFPL3 | Q86UP9 | 605 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COL11A2 | DDR2 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| DDR2 | COL11A2 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| COL11A2 | RPL9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| COL11A2 | ANXA7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COL11A2 | PIN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TK1 | COL11A2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| WDR20 | POLR1C | psi-mi:“MI:0914”(association) | 0.350 |
| LTK | AIP | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (12): RPL9 (Proximity Label-MS), COL11A2 (Affinity Capture-RNA), COL11A2 (PCA), COL11A2 (Proximity Label-MS), COL11A2 (Cross-Linking-MS (XL-MS)), COL11A2 (Affinity Capture-MS), COL11A2 (Affinity Capture-MS), COL11A2 (Co-fractionation), COL11A2 (Affinity Capture-MS), COL11A2 (Two-hybrid), COL11A2 (Two-hybrid), COL11A2 (Two-hybrid)
ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WGB1, A8WR59, B2RNN3, B7Z0K8, C7DZK3, O35167, O35348, O76368, O88207, P0C862, P12107, P13942, P20908, P20909, P23805, P25067, P25318, P25940, P42916, P83371, P98085, Q03637, Q07092, Q07563, Q0II24, Q0VF58, Q17RW2, Q30D77, Q32S24, Q3MI99, Q4ZJM7, Q4ZJN1, Q60467, Q61245, Q64739, Q6UXH8
Diamond homologs: A0MSJ1, C7DZK3, O42350, O88207, P02452, P02457, P02458, P02459, P02460, P02461, P02466, P05997, P08121, P12105, P12107, P13941, P13942, P20908, P20909, Q17RW2, Q30D77, Q32S24, Q3U962, Q5QNQ9, Q60467, Q61245, Q64739, Q6P4Z2, Q80ZF0, Q8IZC6, Q91717, Q9JI03, Q9YIB4, B8V7R6, O46392, O93484, P02453, P02454, P02465, P02467
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SOX9 | “up-regulates quantity by expression” | COL11A2 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
3179 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 109 |
| Likely pathogenic | 70 |
| Uncertain significance | 1012 |
| Likely benign | 1464 |
| Benign | 126 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1252015 | NM_080680.3(COL11A2):c.1871dup (p.Gly625fs) | Pathogenic |
| 1322103 | NM_080680.3(COL11A2):c.328C>T (p.Arg110Ter) | Pathogenic |
| 1322104 | NM_080680.3(COL11A2):c.2540del (p.Gly847fs) | Pathogenic |
| 1351259 | NM_080680.3(COL11A2):c.4265dup (p.Gly1423_Glu1424insTer) | Pathogenic |
| 1357508 | NM_080680.3(COL11A2):c.3545del (p.Pro1182fs) | Pathogenic |
| 1371095 | NM_080680.3(COL11A2):c.272G>A (p.Arg91Gln) | Pathogenic |
| 1379760 | NM_080680.3(COL11A2):c.1957del (p.Thr653fs) | Pathogenic |
| 1402330 | NM_080680.3(COL11A2):c.3496G>T (p.Glu1166Ter) | Pathogenic |
| 1451542 | NM_080680.3(COL11A2):c.3032del (p.Pro1011fs) | Pathogenic |
| 1452394 | NM_080680.3(COL11A2):c.4519C>T (p.Gln1507Ter) | Pathogenic |
| 1459216 | NM_080680.3(COL11A2):c.1636C>T (p.Arg546Ter) | Pathogenic |
| 160366 | NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser) | Pathogenic |
| 1701500 | NM_080680.3(COL11A2):c.4123-1G>T | Pathogenic |
| 1708726 | NM_080680.3(COL11A2):c.3133G>T (p.Gly1045Ter) | Pathogenic |
| 17120 | NM_080680.3(COL11A2):c.4392+1G>A | Pathogenic |
| 17122 | NM_080680.3(COL11A2):c.2822_2848del (p.Glu941_Pro950delinsAla) | Pathogenic |
| 17123 | NM_080680.3(COL11A2):c.4322G>A (p.Gly1441Glu) | Pathogenic |
| 17125 | NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu) | Pathogenic |
| 17126 | NM_080680.3(COL11A2):c.2492C>A (p.Ser831Ter) | Pathogenic |
| 17128 | NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) | Pathogenic |
| 17130 | NM_080680.3(COL11A2):c.3962del | Pathogenic |
| 1804120 | NM_080680.3(COL11A2):c.2086del (p.Glu696fs) | Pathogenic |
| 1951094 | NM_080680.3(COL11A2):c.874C>T (p.Gln292Ter) | Pathogenic |
| 1975014 | NM_080680.3(COL11A2):c.1672C>T (p.Arg558Ter) | Pathogenic |
| 2022159 | NM_080680.3(COL11A2):c.2658del (p.Pro888fs) | Pathogenic |
| 2022530 | NM_080680.3(COL11A2):c.1962del (p.Thr656fs) | Pathogenic |
| 2098356 | NM_080680.3(COL11A2):c.3833dup (p.Gly1279fs) | Pathogenic |
| 2117536 | NM_080680.3(COL11A2):c.1586del (p.Gly529fs) | Pathogenic |
| 2118997 | NM_080680.3(COL11A2):c.1076_1077del (p.Glu359fs) | Pathogenic |
| 2130254 | NM_080680.3(COL11A2):c.966del (p.Thr323fs) | Pathogenic |
SpliceAI
6632 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:33163815:GTGT:G | acceptor_gain | 1.0000 |
| 6:33163817:GT:G | acceptor_gain | 1.0000 |
| 6:33163819:C:CA | acceptor_loss | 1.0000 |
| 6:33163819:C:CC | acceptor_gain | 1.0000 |
| 6:33163822:C:CT | acceptor_gain | 1.0000 |
| 6:33163823:A:T | acceptor_gain | 1.0000 |
| 6:33164255:T:TA | donor_gain | 1.0000 |
| 6:33164261:TCCCA:T | donor_loss | 1.0000 |
| 6:33164262:CCCAC:C | donor_loss | 1.0000 |
| 6:33164263:CCACC:C | donor_loss | 1.0000 |
| 6:33164264:CACCT:C | donor_loss | 1.0000 |
| 6:33164265:A:T | donor_loss | 1.0000 |
| 6:33164266:CCTG:C | donor_loss | 1.0000 |
| 6:33164317:G:C | donor_gain | 1.0000 |
| 6:33164321:AT:A | donor_gain | 1.0000 |
| 6:33164322:T:TA | donor_gain | 1.0000 |
| 6:33164388:T:TA | donor_gain | 1.0000 |
| 6:33164469:GAGAA:G | acceptor_gain | 1.0000 |
| 6:33164470:AGAA:A | acceptor_gain | 1.0000 |
| 6:33164471:GAA:G | acceptor_gain | 1.0000 |
| 6:33164472:AA:A | acceptor_gain | 1.0000 |
| 6:33164472:AAC:A | acceptor_loss | 1.0000 |
| 6:33164473:AC:A | acceptor_loss | 1.0000 |
| 6:33164474:C:CC | acceptor_gain | 1.0000 |
| 6:33164474:C:T | acceptor_loss | 1.0000 |
| 6:33164475:T:C | acceptor_loss | 1.0000 |
| 6:33164847:CTCAC:C | donor_loss | 1.0000 |
| 6:33164850:A:AC | donor_gain | 1.0000 |
| 6:33164851:C:CC | donor_gain | 1.0000 |
| 6:33164851:CCTG:C | donor_gain | 1.0000 |
AlphaMissense
10817 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:33164906:G:C | C1603W | 1.000 |
| 6:33164907:C:G | C1603S | 1.000 |
| 6:33164907:C:T | C1603Y | 1.000 |
| 6:33164908:A:G | C1603R | 1.000 |
| 6:33164908:A:T | C1603S | 1.000 |
| 6:33165578:A:G | L1574P | 1.000 |
| 6:33165586:G:C | C1571W | 1.000 |
| 6:33165587:C:T | C1571Y | 1.000 |
| 6:33163688:A:C | F1734C | 0.999 |
| 6:33163688:A:G | F1734S | 0.999 |
| 6:33164405:G:C | S1644R | 0.999 |
| 6:33164405:G:T | S1644R | 0.999 |
| 6:33164407:T:G | S1644R | 0.999 |
| 6:33164412:A:G | L1642P | 0.999 |
| 6:33164420:G:C | F1639L | 0.999 |
| 6:33164420:G:T | F1639L | 0.999 |
| 6:33164421:A:C | F1639C | 0.999 |
| 6:33164422:A:G | F1639L | 0.999 |
| 6:33164907:C:A | C1603F | 0.999 |
| 6:33164942:G:C | N1591K | 0.999 |
| 6:33164942:G:T | N1591K | 0.999 |
| 6:33164946:G:T | P1590H | 0.999 |
| 6:33164949:T:C | D1589G | 0.999 |
| 6:33164959:A:C | Y1586D | 0.999 |
| 6:33165587:C:A | C1571F | 0.999 |
| 6:33165587:C:G | C1571S | 0.999 |
| 6:33165588:A:G | C1571R | 0.999 |
| 6:33165588:A:T | C1571S | 0.999 |
| 6:33166799:C:T | G1420E | 0.999 |
| 6:33166808:C:T | G1417E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000091006 (6:33181588 C>T), RS1000116715 (6:33188793 A>C), RS1000174480 (6:33162309 A>G), RS1000260021 (6:33175499 C>T), RS1000355634 (6:33168444 A>C), RS1000411560 (6:33175880 G>A), RS1000420177 (6:33181953 G>A), RS1000491541 (6:33194538 G>C,T), RS1000612226 (6:33194223 A>G), RS1000892992 (6:33176659 C>T), RS1001105186 (6:33187567 A>G), RS1001125057 (6:33190663 G>A), RS1001222814 (6:33188872 G>A), RS1001257347 (6:33181334 C>A,T), RS1001309151 (6:33187917 G>A)
Disease associations
OMIM: gene MIM:120290 | disease phenotypes: MIM:215150, MIM:601868, MIM:184840, MIM:277610, MIM:609706, MIM:614524, MIM:241500, MIM:245600, MIM:128600, MIM:257350, MIM:257850, MIM:614211, MIM:190685
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| otospondylomegaepiphyseal dysplasia, autosomal dominant | Definitive | Autosomal dominant |
| otospondylomegaepiphyseal dysplasia, autosomal recessive | Definitive | Autosomal recessive |
| autosomal dominant nonsyndromic hearing loss 13 | Definitive | Autosomal dominant |
| autosomal recessive nonsyndromic hearing loss 53 | Definitive | Autosomal recessive |
| otospondylomegaepiphyseal dysplasia | Definitive | Autosomal dominant |
| fibrochondrogenesis | Supportive | Autosomal dominant |
| autosomal dominant nonsyndromic hearing loss | Supportive | Autosomal dominant |
| hearing loss, autosomal recessive | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (4)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| nonsyndromic genetic hearing loss | Definitive | AD |
| otospondylomegaepiphyseal dysplasia | Definitive | AD |
| otospondylomegaepiphyseal dysplasia | Definitive | AR |
| nonsyndromic genetic hearing loss | Moderate | AR |
Mondo (23): otospondylomegaepiphyseal dysplasia, autosomal recessive (MONDO:0044206), autosomal dominant nonsyndromic hearing loss 13 (MONDO:0011159), hearing loss disorder (MONDO:0005365), otospondylomegaepiphyseal dysplasia, autosomal dominant (MONDO:0008490), autosomal recessive nonsyndromic hearing loss 53 (MONDO:0012333), fibrochondrogenesis 2 (MONDO:0013795), infantile hypophosphatasia (MONDO:1010169), connective tissue disorder (MONDO:0003900), Larsen-like syndrome, B3GAT3 type (MONDO:0009511), nonsyndromic genetic hearing loss (MONDO:0019497), conductive hearing loss disorder (MONDO:0020679), sensorineural hearing loss disorder (MONDO:0020678), ear malformation (MONDO:0007500), cystic hygroma (MONDO:0009761), oculodentodigital dysplasia, autosomal recessive (MONDO:0009768)
Orphanet (16): Autosomal recessive otospondylomegaepiphyseal dysplasia (Orphanet:1427), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Autosomal dominant otospondylomegaepiphyseal dysplasia (Orphanet:166100), Fibrochondrogenesis (Orphanet:2021), Weissenbacher-Zweymuller syndrome (Orphanet:3450), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Infantile hypophosphatasia (Orphanet:247651), Hypophosphatasia (Orphanet:436), Rare genetic deafness (Orphanet:96210), Larsen-like syndrome, B3GAT3 type (Orphanet:284139), Rare non-syndromic genetic deafness (Orphanet:87884), Oculodentodigital dysplasia (Orphanet:2710), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Down syndrome (Orphanet:870), Cystic hygroma (Orphanet:79486)
HPO phenotypes
103 total (30 of 103 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000160 | Narrow mouth |
| HP:0000162 | Glossoptosis |
| HP:0000175 | Cleft palate |
| HP:0000193 | Bifid uvula |
| HP:0000201 | Pierre-Robin sequence |
| HP:0000260 | Wide anterior fontanel |
| HP:0000272 | Malar flattening |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000364 | Hearing abnormality |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000410 | Mixed hearing impairment |
| HP:0000414 | Bulbous nose |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000478 | Abnormality of the eye |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000518 | Cataract |
| HP:0000520 | Proptosis |
| HP:0000540 | Hypermetropia |
| HP:0000541 | Retinal detachment |
| HP:0000767 | Pectus excavatum |
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001613_18 | Antineutrophil cytoplasmic antibody-associated vasculitis | 1.000000e-71 |
| GCST002160_5 | Wegener’s granulomatosis | 2.000000e-50 |
| GCST002217_5 | Sjögren’s syndrome | 9.000000e-25 |
| GCST004748_119 | Lung cancer | 1.000000e-06 |
| GCST005790_68 | Rosacea symptom severity | 2.000000e-07 |
| GCST007797_34 | Asthma onset (childhood vs adult) | 4.000000e-06 |
| GCST007798_48 | Asthma | 4.000000e-14 |
| GCST007800_17 | Asthma (childhood onset) | 3.000000e-17 |
| GCST008053_72 | Height | 3.000000e-13 |
| GCST008365_16 | Thyrotoxic hypokalemic periodic paralysis and Graves disease | 2.000000e-18 |
| GCST90020028_532 | Hip circumference adjusted for BMI | 8.000000e-09 |
| GCST90020028_533 | Hip circumference adjusted for BMI | 5.000000e-10 |
| GCST90020028_534 | Hip circumference adjusted for BMI | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009180 | rosacea severity measurement |
| EFO:0004847 | age at onset |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (15)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003240 | Connective Tissue Diseases | C17.300 |
| D004314 | Down Syndrome | C10.597.606.360.220; C16.131.077.327; C16.131.260.260; C16.320.180.260 |
| D034381 | Hearing Loss | C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D018191 | Lymphangioma, Cystic | C04.557.375.450.450 |
| D058499 | Retinal Dystrophies | C11.768.585.658 |
| C566612 | Deafness, Autosomal Dominant 13 (supp.) | |
| C564609 | Deafness, Autosomal Recessive (supp.) | |
| C566453 | Deafness, Autosomal Recessive 53 (supp.) | |
| C562524 | Fibrochondrogenesis (supp.) | |
| C537874 | Larsen syndrome, recessive type (supp.) | |
| C580334 | Nonsyndromic Deafness (supp.) | |
| C567605 | Oculodentodigital Dysplasia, Autosomal Recessive (supp.) | |
| C535776 | Pierre Robin syndrome with fetal chondrodysplasia (supp.) | |
| C537494 | Stickler syndrome, type 3 (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
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Cisplatin | affects cotreatment, affects expression, affects response to substance | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| tamibarotene | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation, increases methylation | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Glyphosate | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Tamoxifen | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Paclitaxel | affects expression, affects cotreatment | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| 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 |
| 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 |
| 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 |
| 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 |
| NCT02259595 | PHASE1 | COMPLETED | Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC |
| NCT04041440 | PHASE1 | COMPLETED | Speech Recognition Training in Children With Hearing Loss |
| NCT07218913 | PHASE1 | RECRUITING | Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors |
| NCT00486577 | PHASE2/PHASE3 | COMPLETED | Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus |
| NCT00789061 | PHASE2/PHASE3 | UNKNOWN | Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation |
| NCT01423409 | PHASE2/PHASE3 | COMPLETED | Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People |
| NCT05786378 | PHASE2/PHASE3 | UNKNOWN | Assessment of The Efficacy of Intratympanic Platelet Rich Plasma for Treatment of Sensorineural Hearing Loss. |
| NCT01108601 | PHASE1/PHASE2 | UNKNOWN | Transtympanic Ringer’s Lactate for the Prevention of Cisplatin Ototoxicity |
| NCT01621256 | PHASE1/PHASE2 | COMPLETED | Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss |
| NCT06370351 | PHASE1/PHASE2 | RECRUITING | A Phase I/II Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations |
| NCT06545175 | PHASE1/PHASE2 | RECRUITING | Intracochlear Application of VSF1.01 for the Reduction of Cochlear Implant Surgery Related Trauma |
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Related Atlas pages
- Associated diseases: otospondylomegaepiphyseal dysplasia, autosomal dominant, otospondylomegaepiphyseal dysplasia, autosomal recessive, autosomal dominant nonsyndromic hearing loss 13, autosomal recessive nonsyndromic hearing loss 53, otospondylomegaepiphyseal dysplasia, fibrochondrogenesis, autosomal dominant nonsyndromic hearing loss, hearing loss, autosomal recessive, nonsyndromic genetic hearing loss
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anti-neutrophil antibody associated vasculitis, autosomal dominant nonsyndromic hearing loss, autosomal dominant nonsyndromic hearing loss 13, autosomal dominant nonsyndromic hearing loss 33, autosomal recessive nonsyndromic hearing loss 53, conductive hearing loss disorder, connective tissue disorder, cystic hygroma, Down syndrome, ear malformation, fibrochondrogenesis, fibrochondrogenesis 2, granulomatosis with polyangiitis, Graves disease, hearing loss, autosomal recessive, infantile hypophosphatasia, Larsen-like syndrome, B3GAT3 type, oculodentodigital dysplasia, autosomal recessive, otospondylomegaepiphyseal dysplasia, otospondylomegaepiphyseal dysplasia, autosomal dominant, otospondylomegaepiphyseal dysplasia, autosomal recessive, sensorineural hearing loss disorder, Sjogren syndrome, thyrotoxic periodic paralysis