COL11A1

Summary

COL11A1 (collagen type XI alpha 1 chain, HGNC:2186) is a protein-coding gene on chromosome 1p21.1, encoding Collagen alpha-1(XI) chain (P12107). 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. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene.

Source: NCBI Gene 1301 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Marshall syndrome (Definitive, GenCC) — +7 more curated relationships
• GWAS associations: 57
• Clinical variants (ClinVar): 3,483 total — 121 pathogenic, 135 likely-pathogenic
• Phenotypes (HPO): 151
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001854

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2186
Approved symbol	COL11A1
Name	collagen type XI alpha 1 chain
Location	1p21.1
Locus type	gene with protein product
Status	Approved
Aliases	STL2, CO11A1
Ensembl gene	ENSG00000060718
Ensembl biotype	protein_coding
OMIM	120280
Entrez	1301

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000353414, ENST00000358392, ENST00000370096, ENST00000427239, ENST00000447608, ENST00000461720, ENST00000465209, ENST00000470170, ENST00000512756, ENST00000635193, ENST00000639098, ENST00000644186, ENST00000645458, ENST00000647280, ENST00000862751, ENST00000918009

RefSeq mRNA: 4 — MANE Select: NM_001854 NM_001190709, NM_001854, NM_080629, NM_080630

CCDS: CCDS53348, CCDS778, CCDS780

Canonical transcript exons

ENST00000370096 — 67 exons

Exon	Start	End
ENSE00000779592	102879683	102879916
ENSE00000779671	102881697	102881765
ENSE00000800679	102883199	102883311
ENSE00001597659	102898125	102898178
ENSE00001610967	102935060	102935113
ENSE00001620024	102888866	102888919
ENSE00001620741	102970219	102970272
ENSE00001633957	103025521	103025613
ENSE00001637810	103082805	103082972
ENSE00001643037	102998310	102998363
ENSE00001651679	102974830	102974883
ENSE00001652410	102913637	102913690
ENSE00001655366	103008463	103008516
ENSE00001658297	102978708	102978752
ENSE00001660582	103031116	103031244
ENSE00001663045	102914704	102914811
ENSE00001665183	102920311	102920364
ENSE00001672922	103021707	103021769
ENSE00001686096	102989518	102989571
ENSE00001687474	102898666	102898773
ENSE00001692178	102962653	102962760
ENSE00001698541	102946849	102946956
ENSE00001699188	102961866	102961919
ENSE00001701240	102987633	102987740
ENSE00001718712	102915631	102915684
ENSE00001720223	102921518	102921571
ENSE00001727824	102912159	102912212
ENSE00001732174	102984138	102984191
ENSE00001734035	102886807	102887056
ENSE00001739533	102898941	102898994
ENSE00001740637	102914352	102914405
ENSE00001741380	103015668	103015742
ENSE00001741672	102940327	102940434
ENSE00001746050	103012413	103012469
ENSE00001747277	102923336	102923389
ENSE00001750340	103017820	103017882
ENSE00001752211	102979060	102979104
ENSE00001753202	103018818	103018859
ENSE00001755659	102889455	102889562
ENSE00001761510	103014511	103014594
ENSE00001761817	102965487	102965540
ENSE00001767640	103026216	103026332
ENSE00001769324	102934449	102934556
ENSE00001770734	103078658	103078871
ENSE00001771188	102939035	102939088
ENSE00001778988	102997080	102997124
ENSE00001780277	103074618	103074780
ENSE00001786725	103022742	103022996
ENSE00001788127	102995864	102995908
ENSE00001788956	102978860	102978913
ENSE00001793140	102888577	102888630
ENSE00001796962	102888723	102888758
ENSE00001800254	102995989	102996042
ENSE00001800387	102979382	102979435
ENSE00001801750	102890451	102890504
ENSE00003470616	102962176	102962265
ENSE00003498926	103004444	103004488
ENSE00003570061	103006068	103006121
ENSE00003576215	103003215	103003268
ENSE00003578816	103004608	103004661
ENSE00003591854	103006262	103006315
ENSE00003612702	103002747	103002791
ENSE00003680678	103002428	103002481
ENSE00003682660	103001925	103001969
ENSE00003694562	103005838	103005891
ENSE00003819495	103108073	103108522
ENSE00003846270	102876473	102878165

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 99.98.

FANTOM5 (CAGE): breadth broad, TPM avg 40.8176 / max 1916.6643, expressed in 832 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13588	17.3916	754
13589	16.8656	774
13587	5.4873	566
13590	0.9504	318
13585	0.1226	59

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	99.98	gold quality
cartilage tissue	UBERON:0002418	99.77	gold quality
periodontal ligament	UBERON:0008266	99.22	gold quality
ventricular zone	UBERON:0003053	99.13	gold quality
adrenal tissue	UBERON:0018303	94.39	gold quality
calcaneal tendon	UBERON:0003701	93.95	gold quality
ganglionic eminence	UBERON:0004023	93.74	gold quality
germinal epithelium of ovary	UBERON:0001304	90.70	gold quality
hair follicle	UBERON:0002073	90.57	gold quality
cranial nerve II	UBERON:0000941	89.99	gold quality
embryo	UBERON:0000922	89.84	gold quality
visceral pleura	UBERON:0002401	84.11	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.95	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.45	gold quality
amygdala	UBERON:0001876	81.50	gold quality
stromal cell of endometrium	CL:0002255	81.49	gold quality
trabecular bone tissue	UBERON:0002483	80.66	gold quality
right frontal lobe	UBERON:0002810	80.34	gold quality
tendon	UBERON:0000043	80.25	gold quality
nucleus accumbens	UBERON:0001882	80.14	gold quality
hypothalamus	UBERON:0001898	79.98	gold quality
cingulate cortex	UBERON:0003027	79.75	gold quality
anterior cingulate cortex	UBERON:0009835	79.60	gold quality
sural nerve	UBERON:0015488	79.11	gold quality
tibial nerve	UBERON:0001323	79.04	gold quality
middle temporal gyrus	UBERON:0002771	78.82	gold quality
adenohypophysis	UBERON:0002196	78.80	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.65	gold quality
substantia nigra	UBERON:0002038	78.63	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	5691.54
E-MTAB-8221	yes	2217.86
E-GEOD-81383	yes	1018.55
E-ANND-5	yes	453.93
E-MTAB-7008	yes	202.65
E-HCAD-35	yes	60.90
E-MTAB-8410	yes	33.23
E-HCAD-25	yes	17.66
E-ANND-3	yes	6.75
E-GEOD-124858	no	261.23

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPZ, EGR1, LEF1, MLX, MYCN, NFYB, TCF3

miRNA regulators (miRDB)

164 targeting COL11A1, 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-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-4776-3P	100.00	68.73	1340
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• A statistically significant difference has been found in COL11A1 expression between normal tissue and adenomas from a familial adenomatous polyposis patient, and all adenomas give evidence of an active adenomatous polyposis coli/beta-catenin pathway. (PMID:11707154)
• 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)
• CBF/NF-Y proteins regulate the transcription of COL11A1 by directly binding to the ATTGG sequence in the proximal promoter region (PMID:12805369)
• Six pedigrees with type 2 Stickler syndrome with mutations in COL11A1. (PMID:15286167)
• Heterozygous COL11A1 mutations were found in 10 individuals with Stickler or Marshall syndromes. (PMID:17236192)
• Type XI collagen is critical for intervertbral dis metabolism and its decrease is related to lumbar disc herniation. (PMID:17999364)
• 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)
• The data above suggest that focal adhesion pathway may have a role in the pathogenesis of gastric cancer, and the expression profile of collagen genes may be a potential biomarker to distinguish malignant from premalignant lesions in stomach (PMID:19306436)
• Study identified 57 novel mutations including missense changes in both COL2A1 and COL11A1. (PMID:20513134)
• These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers. (PMID:21035103)
• Common polymorphisms in four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia. (PMID:21527992)
• our data shall improve the overall understanding of fibrochondrogenesis especially in surviving homozygous patients and, at least partly, explain the phenotypic variability associated with COL11A1 gene mutations. (PMID:21668896)
• variants detected in COL11A1 in patients with Stickler syndrome (PMID:22189268)
• Characterize mouse monoclonal antibody specific for human procollagen 11A1 and report its use for immunohistochemistry in human breast tumor tissue. (PMID:22322826)
• study reports the first evidence that adds COL11A1 defect as a cause of Marshall syndrome with a recessive mode of inheritance (PMID:22499343)
• a TT genotype of COL11A1 polymorphism may be a significant risk factor for limbus vertebra in Japanese collegiate gymnasts. (PMID:22510797)
• COL11A1 allelic imbalance is common in osteoarthritis but is not a risk factor for osteoarthritis. (PMID:23497244)
• Axial length, anterior chamber depth and keratometry were not associated with rs3753841 or rs11024102 genotypes including after adjusting for age and sex. (PMID:23505305)
• The study demonstrates that some mutations in COL11A1 are recessive, modified by alternative splicing and result in type 2 Stickler syndrome rather than fibrochondrogenesis. (PMID:23922384)
• COL11A1 may promote tumor aggressiveness via the TGF-beta1-MMP3 axis and COL11A1 expression can predict clinical outcome in ovarian cancer patients. (PMID:23934190)
• proCOL11A1 is a specific marker for pancreatic cancer-associated fibroblasts, and thus, anti-proCOL11A1 is a powerful new tool for cancer research and clinical diagnostics. (PMID:24194920)
• The three genetic susceptibility loci for primary angle-closure glaucoma did not underlie any major phenotypic diversity in terms of disease severity or progression. (PMID:24474268)
• Some studies have shown the association between gene COL11A1 polymorphism c.4603C>T and intervertebral disc disease–{review} (PMID:24636772)
• Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. (PMID:24804215)
• Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population (PMID:24854855)
• These cases highlight both a novel dominant COL11A1 mutation causing a significant skeletal dysplasia. (PMID:25091507)
• COL11A1 expression is a promising marker of invasive breast lesions, and may be included in immunohistochemical panels aiming at identifying infiltration in problematic breast lesions. (PMID:25175819)
• Expanded spectrum of mutations in the COL11A1 and COL11A2 genes in Stickler syndrome. (PMID:25240749)
• The immunodetection of procollagen 11A1 in cancer-associated stromal cells could be a useful biomarker for human colon adenocarcinoma characterisation. (PMID:25417197)
• Studies indicate that collagen type XI alpha 1 (colXIalpha1) is overexpressed at mRNA and protein levels in many cancer types. (PMID:25511741)
• This meta-analysis suggests that PLEKHA7 rs11024102 is associated with PACG (primary angle closure glaucoma) in Asian population and COL11A1 rs3753841 has a genetic association with the development of PACG both in Caucasian and Asian populations. (PMID:25732101)
• COL11A1/(pro)collagen 11A1 expression is a remarkable biomarker of human carcinoma-associated stromal cells and carcinoma progression. (PMID:25761876)
• Analysis of 104 epithelial ovarian carcinoma patients showed that high COL11A1 mRNA levels are significantly associated with poor chemoresponse and clinical outcome. (PMID:26087191)
• These data suggest that pro-COL11A1 expression is a highly sensitive biomarker to predict malignant relapse of intraductal papilloma. (PMID:26448946)
• Familial linkage studies for primary angle-closure glaucoma have been performed and identified MYOC causative primary angle-open-glaucoma disease (PMID:26497787)
• High Col11A1 mRNA expression is associated with Adenocarcinoma of the Papilla of Vater and Pancreas Carcinoma. (PMID:26504042)
• COL11A1 antibody can assist in distinguishing the cancer-associated desmoplastic stroma from that associated with misplaced adenomatous mucosa. It is particularly helpful when electrocautery artifacts or mucin pools interfere with the diagnosis of invasive carcinoma. However, COL11A1 has limited value in diagnosing superfically invasive carcinomas with very little desmoplastic stroma. (PMID:27021528)
• Chondrogenic potential was higher and Wnt/beta-catenin signaling was more potently activated by a GSK-3beta inhibitor in the posterior than in the anterior part of the human infant sclera. (PMID:27336854)
• COL11A1 may sever as a biomarker for metastatic NSCLC. (PMID:27373316)
• Study found one gene significantly associated when looking for associations between multiple common and rare variants with pneumococcal meningitis susceptibility, namely the COL11A1 gene. (PMID:27389768)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	col11a1b	ENSDARG00000009014
danio_rerio	col11a1a	ENSDARG00000026165
mus_musculus	Col11a1	ENSMUSG00000027966
rattus_norvegicus	Col11a1	ENSRNOG00000023148

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), 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), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-1(XI) chain — P12107 (reviewed: P12107)

All UniProt accessions (8): P12107, A0A0U1RRA7, A0A2R8Y4I5, A0A2R8Y4M5, A0A2R8Y5N4, A0A2R8YDU3, C9JMN2, H7C381

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.

Tissue specificity. Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.

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. N-glycosylated.

Disease relevance. Stickler syndrome 2 (STL2) [MIM:604841] An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. The disease is caused by variants affecting the gene represented in this entry. Marshall syndrome (MRSHS) [MIM:154780] An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. The disease is caused by variants affecting the gene represented in this entry. Fibrochondrogenesis 1 (FBCG1) [MIM:228520] A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. The disease is caused by variants affecting the gene represented in this entry. Deafness, autosomal dominant, 37 (DFNA37) [MIM:618533] 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. DFNA37 is a slowly progressive, postlingual form. The disease may be 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 (4)

UniProt ID	Names	Canonical?
P12107-1	A	yes
P12107-2	B
P12107-3	C
P12107-4	4

RefSeq proteins (4): NP_001177638, NP_001845, NP_542196, NP_542197 (=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 (92 total): compositionally biased region 26, sequence variant 20, domain 10, region of interest 8, sequence conflict 7, disulfide bond 6, binding site 5, splice variant 3, propeptide 2, modified residue 2, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12107-F1	53.06	0.20

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): 1625; 1627; 1628; 1630; 1633

Post-translational modifications (2): 612, 1452

Disulfide bonds (6): 61–243, 182–236, 1607–1639, 1630, 1648–1803, 1714–1757

Glycosylation sites (1): 1640

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: 623 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, TGGTGCT_MIR29A_MIR29B_MIR29C, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_DETECTION_OF_MECHANICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, GOCC_COLLAGEN_TRIMER, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS

GO Biological Process (15): cartilage condensation (GO:0001502), chondrocyte development (GO:0002063), proteoglycan metabolic process (GO:0006029), visual perception (GO:0007601), sensory perception of sound (GO:0007605), collagen fibril organization (GO:0030199), endodermal cell differentiation (GO:0035987), tendon development (GO:0035989), inner ear morphogenesis (GO:0042472), embryonic skeletal system morphogenesis (GO:0048704), detection of mechanical stimulus involved in sensory perception of sound (GO:0050910), ventricular cardiac muscle tissue morphogenesis (GO:0055010), heart morphogenesis (GO:0003007), skeletal system morphogenesis (GO:0048705), cartilage development (GO:0051216)

GO Molecular Function (5): extracellular matrix structural constituent (GO:0005201), extracellular matrix structural constituent conferring tensile strength (GO:0030020), protein-macromolecule adaptor activity (GO:0030674), metal ion binding (GO:0046872), extracellular matrix binding (GO:0050840)

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), fibrillar collagen trimer (GO:0005583)

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 morphogenesis	2
connective tissue development	2
animal organ morphogenesis	2
skeletal system development	2
fibrillar collagen trimer	2
cartilage development	1
cell aggregation	1
chondrocyte differentiation	1
cell development	1
glycoprotein metabolic process	1
sensory perception of light stimulus	1
sensory perception of mechanical stimulus	1
extracellular matrix organization	1
endoderm formation	1
cell differentiation	1
ear morphogenesis	1
embryonic morphogenesis	1
inner ear development	1
embryonic organ morphogenesis	1
embryonic skeletal system development	1
sensory perception of sound	1
nervous system process	1
detection of mechanical stimulus involved in sensory perception	1
cardiac ventricle morphogenesis	1
ventricular cardiac muscle tissue development	1
cardiac muscle tissue morphogenesis	1
heart development	1
animal organ development	1
structural molecule activity	1
extracellular matrix	1
extracellular matrix structural constituent	1
protein binding	1
molecular adaptor activity	1
cation binding	1
binding	1
cellular anatomical structure	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
protein-containing complex	1

Protein interactions and networks

STRING

2394 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL11A1	COL2A1	P02458	900
COL11A1	COL1A2	P02464	899
COL11A1	THBS2	P35442	859
COL11A1	COL5A2	P05997	855
COL11A1	COL1A1	P02452	841
COL11A1	COL3A1	P02461	817
COL11A1	HAPLN1	P10915	774
COL11A1	CILP	O75339	755
COL11A1	DDR2	Q16832	754
COL11A1	ASPN	Q9BXN1	739
COL11A1	COL6A3	P12111	675
COL11A1	KCNJ13	O60928	642
COL11A1	MMP11	P24347	617
COL11A1	ITGA2	P17301	603
COL11A1	MMP9	P14780	594

IntAct

14 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
MMP2	COL4A1	psi-mi:“MI:0914”(association)	0.640
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
COL11A1	H2BC20P	psi-mi:“MI:0915”(physical association)	0.400
CTBP1	GSN	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
C1orf54	QSOX1	psi-mi:“MI:0914”(association)	0.350
C1QTNF1	CALU	psi-mi:“MI:0914”(association)	0.350
C1QTNF9B	DNASE2	psi-mi:“MI:0914”(association)	0.350
KLHL15	DNAJB5	psi-mi:“MI:0914”(association)	0.350
P4HA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
TMEM87A	CLGN	psi-mi:“MI:0914”(association)	0.350
GATA2	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): COL11A1 (Affinity Capture-MS), COL11A1 (Synthetic Lethality), CLPP (Co-fractionation), ME2 (Co-fractionation), PAICS (Co-fractionation), PYCR1 (Co-fractionation), PYCR2 (Co-fractionation), COL11A1 (Proximity Label-MS), ITGAV (Reconstituted Complex), SPARC (Reconstituted Complex), TGM2 (Reconstituted Complex), APP (Reconstituted Complex), THBS1 (Reconstituted Complex), COL11A1 (Affinity Capture-MS), COL11A1 (Affinity Capture-MS)

ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WGB1, A8WR59, B2RNN3, B7Z0K8, C7DZK3, O35167, O35348, O76368, O88207, P0C862, P12107, P13942, P20908, P20909, P23805, P25067, P25318, P25940, P42916, P83371, P98085, Q03637, Q07092, Q07563, Q0II24, Q0VF58, Q17RW2, Q30D77, Q32S24, Q3MI99, Q4ZJM7, Q4ZJN1, Q60467, Q61245, Q64739, Q6UXH8

Diamond homologs: A0MSJ1, C7DZK3, O42350, O88207, P02452, P02457, P02458, P02459, P02460, P02461, P02466, P05997, P08121, P12105, P12107, P13941, P13942, P20908, P20909, Q17RW2, Q30D77, Q32S24, Q3U962, Q5QNQ9, Q60467, Q61245, Q64739, Q6P4Z2, Q80ZF0, Q8IZC6, Q91717, Q9JI03, Q9YIB4, B8V7R6, O46392, O93484, P02453, P02454, P02465, P02467

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EGR1	“up-regulates quantity by expression”	COL11A1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

3483 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	121
Likely pathogenic	135
Uncertain significance	1274
Likely benign	1209
Benign	337

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068130	NC_000001.10:g.(?103380260)(103548528_?)del	Pathogenic
1068624	NM_001854.4(COL11A1):c.5009_5013del (p.Ser1670fs)	Pathogenic
1075485	NM_001854.4(COL11A1):c.2808+3_2808+6del	Pathogenic
1175708	NM_001854.4(COL11A1):c.4519-2del	Pathogenic
1184490	NM_001854.4(COL11A1):c.2755-2A>G	Pathogenic
1220290	NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter)	Pathogenic
1236179	NM_001854.4(COL11A1):c.3655-2del	Pathogenic
1322102	NM_001854.4(COL11A1):c.4131del (p.Gly1378fs)	Pathogenic
1345604	NM_001854.4(COL11A1):c.1630-1G>C	Pathogenic
1360374	NM_001854.4(COL11A1):c.2193_2194dup (p.Pro732fs)	Pathogenic
1438479	NM_001854.4(COL11A1):c.4519-2A>G	Pathogenic
1453035	NM_001854.4(COL11A1):c.4985C>G (p.Ser1662Ter)	Pathogenic
1453428	NM_001854.4(COL11A1):c.3292C>T (p.Gln1098Ter)	Pathogenic
1454694	NC_000001.10:g.(?103449602)(104094402_?)del	Pathogenic
1455516	NC_000001.10:g.(?103345219)(103356080_?)del	Pathogenic
1455649	NM_001854.4(COL11A1):c.1852C>T (p.Arg618Ter)	Pathogenic
1455971	NM_001854.4(COL11A1):c.2603G>A (p.Gly868Asp)	Pathogenic
1458694	NM_001854.4(COL11A1):c.2156_2157insT (p.Lys719fs)	Pathogenic
1459740	NC_000001.10:g.(?103377695)(103381260_?)del	Pathogenic
1460059	NC_000001.10:g.(?103343575)(103573734_?)del	Pathogenic
155897	NM_001854.4(COL11A1):c.781-70T>G	Pathogenic
166923	NM_001854.4(COL11A1):c.3709-1G>A	Pathogenic
17131	NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)	Pathogenic
17133	NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val)	Pathogenic
17134	NM_001854.4(COL11A1):c.3814_3816+1del	Pathogenic
1928115	NM_001854.4(COL11A1):c.1630-1G>T	Pathogenic
1993217	NM_001854.4(COL11A1):c.1791+1del	Pathogenic
2014555	NM_001854.4(COL11A1):c.2324G>A (p.Gly775Glu)	Pathogenic
2023734	NM_001854.4(COL11A1):c.729_730del (p.Cys243_Asp244delinsTer)	Pathogenic
2025916	NM_001854.4(COL11A1):c.2809-3C>G	Pathogenic

SpliceAI

7713 predictions. Top by Δscore:

Variant	Effect	Δscore
1:102878161:CTGGA:C	acceptor_gain	1.0000
1:102878162:TGGA:T	acceptor_gain	1.0000
1:102878163:GGACT:G	acceptor_loss	1.0000
1:102878164:GA:G	acceptor_gain	1.0000
1:102878165:ACTG:A	acceptor_loss	1.0000
1:102878166:C:CC	acceptor_gain	1.0000
1:102878166:C:G	acceptor_loss	1.0000
1:102878167:T:C	acceptor_loss	1.0000
1:102878173:A:AC	acceptor_gain	1.0000
1:102879680:CA:C	donor_loss	1.0000
1:102879681:A:AC	donor_gain	1.0000
1:102879682:C:CC	donor_gain	1.0000
1:102879682:C:CG	donor_loss	1.0000
1:102879682:CCG:C	donor_gain	1.0000
1:102879682:CCGCA:C	donor_gain	1.0000
1:102879912:GAAAG:G	acceptor_gain	1.0000
1:102879913:AAAG:A	acceptor_gain	1.0000
1:102879914:AAG:A	acceptor_gain	1.0000
1:102879915:AG:A	acceptor_gain	1.0000
1:102879917:C:CC	acceptor_gain	1.0000
1:102879918:T:C	acceptor_loss	1.0000
1:102883194:CTT:C	donor_loss	1.0000
1:102883195:TTAC:T	donor_loss	1.0000
1:102883196:TACTC:T	donor_loss	1.0000
1:102883197:A:AC	donor_gain	1.0000
1:102883197:ACT:A	donor_gain	1.0000
1:102883197:ACTC:A	donor_gain	1.0000
1:102883197:ACTCC:A	donor_gain	1.0000
1:102883198:C:CG	donor_gain	1.0000
1:102883198:CT:C	donor_gain	1.0000

AlphaMissense

11490 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:102886844:A:C	C1607W	1.000
1:102886846:A:G	C1607R	1.000
1:102889534:C:T	G1462D	1.000
1:102889543:C:T	G1459D	1.000
1:102923389:C:G	G1201R	1.000
1:102934456:C:T	G1198D	1.000
1:102934465:C:T	G1195D	1.000
1:102934483:C:T	G1189D	1.000
1:102934484:C:G	G1189R	1.000
1:102934510:C:T	G1180E	1.000
1:102939088:C:G	G1129R	1.000
1:102962705:C:T	G991D	1.000
1:102962714:C:T	G988D	1.000
1:102962723:C:T	G985E	1.000
1:102965494:C:T	G970E	1.000
1:102965531:C:G	G958R	1.000
1:102965539:C:T	G955E	1.000
1:102970227:C:A	G952W	1.000
1:102970235:C:T	G949E	1.000
1:102970236:C:A	G949W	1.000
1:102970244:C:T	G946E	1.000
1:102984163:C:T	G844E	1.000
1:102879686:A:C	C1757W	0.999
1:102879687:C:G	C1757S	0.999
1:102879688:A:G	C1757R	0.999
1:102879688:A:T	C1757S	0.999
1:102879815:A:C	C1714W	0.999
1:102879817:A:G	C1714R	0.999
1:102879855:A:G	L1701P	0.999
1:102879861:A:G	L1699P	0.999

dbSNP variants (sampled 300 via entrez): RS1000011020 (1:102989218 T>C), RS1000011916 (1:103064551 C>A,G,T), RS1000024427 (1:103066427 A>G), RS1000032073 (1:103030321 G>A), RS1000047526 (1:103070081 A>C,G), RS1000049501 (1:103036328 A>G), RS1000059018 (1:102940610 T>A), RS1000074197 (1:102949889 A>G), RS1000081675 (1:103000769 G>A), RS1000085575 (1:103096154 C>T), RS1000088821 (1:102897611 C>A,T), RS1000108518 (1:103064974 A>G,T), RS1000110563 (1:102981050 A>T), RS1000121141 (1:103107573 C>G), RS1000124517 (1:103013185 G>A,T)

Disease associations

OMIM: gene MIM:120280 | disease phenotypes: MIM:154780, MIM:604841, MIM:228520, MIM:618533, MIM:108300, MIM:156000, MIM:209850, MIM:124900, MIM:154700, MIM:160700, MIM:187350, MIM:249300, MIM:259420

GenCC curated gene-disease

Disease	Classification	Inheritance
Marshall syndrome	Definitive	Autosomal recessive
Stickler syndrome type 2	Definitive	Autosomal dominant
fibrochondrogenesis 1	Definitive	Autosomal recessive
hearing loss, autosomal dominant 37	Strong	Autosomal dominant
autosomal dominant nonsyndromic hearing loss	Moderate	Autosomal dominant
fibrochondrogenesis	Supportive	Autosomal dominant
autosomal recessive Stickler syndrome	Supportive	Autosomal recessive
autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
autosomal dominant nonsyndromic hearing loss	Moderate	AD

Mondo (27): Marshall syndrome (MONDO:0007949), Stickler syndrome type 2 (MONDO:0011493), fibrochondrogenesis (MONDO:0016068), hearing loss, autosomal dominant 37 (MONDO:0032802), fibrochondrogenesis 1 (MONDO:0009226), Stickler syndrome (MONDO:0019354), lumbar disk degenerative disorder (MONDO:0044339), Meniere disease (MONDO:0007972), hearing loss disorder (MONDO:0005365), connective tissue disorder (MONDO:0003900), inherited retinal dystrophy (MONDO:0019118), autism (MONDO:0005260), lumbar disk herniation, susceptibility to (MONDO:0100202), CHEK2-related cancer predisposition (MONDO:0700271), neurodevelopmental disorder (MONDO:0700092)

Orphanet (17): Fibrochondrogenesis (Orphanet:2021), Marshall syndrome (Orphanet:560), Stickler syndrome (Orphanet:828), Stickler syndrome type 2 (Orphanet:90654), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Li-Fraumeni syndrome (Orphanet:524), Autosomal recessive Stickler syndrome (Orphanet:250984), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Marfan syndrome type 1 (Orphanet:284963), Marfan syndrome (Orphanet:558), Cleft palate (Orphanet:2014), Syndromic telecanthus (Orphanet:98575), Osteogenesis imperfecta type 3 (Orphanet:216812), Osteogenesis imperfecta (Orphanet:666), Primary bone dysplasia (Orphanet:364526)

HPO phenotypes

151 total (30 of 151 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000160	Narrow mouth
HP:0000162	Glossoptosis
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000179	Thick lower lip vermilion
HP:0000193	Bifid uvula
HP:0000201	Pierre-Robin sequence
HP:0000215	Thick upper lip vermilion
HP:0000218	High palate
HP:0000248	Brachycephaly
HP:0000260	Wide anterior fontanel
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000403	Recurrent otitis media
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000485	Megalocornea
HP:0000486	Strabismus

GWAS associations

57 associations (top):

Study	Trait	p-value
GCST000189_6	Protein quantitative trait loci	3.000000e-06
GCST001649_1	Glaucoma (primary angle closure)	9.000000e-10
GCST002826_2	Urate levels (BMI interaction)	2.000000e-06
GCST003467_12	Glaucoma (primary angle closure)	1.000000e-23
GCST003467_13	Glaucoma (primary angle closure)	4.000000e-21
GCST004025_3	Systemic juvenile idiopathic arthritis	3.000000e-07
GCST005214_1	Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia	2.000000e-07
GCST005316_307	Intelligence (MTAG)	3.000000e-08
GCST005406_2	Open-angle glaucoma and optic cup area	4.000000e-08
GCST006065_6	Glaucoma (primary open-angle)	2.000000e-08
GCST006926_8	Osteoarthritis (hip)	2.000000e-14
GCST006979_995	Heel bone mineral density	3.000000e-16
GCST007044_4	Extremely high intelligence	8.000000e-09
GCST007581_1	Carpal tunnel syndrome	1.000000e-08
GCST007691_10	Femoral neck bone mineral density	9.000000e-06
GCST008163_402	Height	2.000000e-06
GCST008279_3	Trochanter size	4.000000e-17
GCST008280_6	Intertrochanteric region size	7.000000e-13
GCST008281_7	Hip bone size	1.000000e-20
GCST008282_9	Spine bone size	9.000000e-06
GCST009218_38	Lateral ventricle temporal horn volume	7.000000e-07
GCST009615_3	Triglyceride levels x loop diuretics use interaction	2.000000e-09
GCST009615_4	Triglyceride levels x loop diuretics use interaction	2.000000e-06
GCST010696_13	Cortical thickness (min-P)	5.000000e-17
GCST010697_15	Cortical surface area (min-P)	4.000000e-09
GCST010698_60	Subcortical volume (min-P)	1.000000e-09
GCST010699_18	Brain morphology (min-P)	5.000000e-10
GCST010700_10	Cortical thickness (MOSTest)	2.000000e-13
GCST010701_60	Cortical surface area (MOSTest)	8.000000e-15
GCST010702_116	Subcortical volume (MOSTest)	2.000000e-09

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004531	urate measurement
EFO:0007965	response to combination chemotherapy
EFO:0004337	intelligence
EFO:0009270	heel bone mineral density
EFO:0007785	femoral neck bone mineral density
EFO:0010075	intertrochanteric region size
EFO:0004508	spine bone size
EFO:0004530	triglyceride measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (17)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D003240	Connective Tissue Diseases	C17.300
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
D008382	Marfan Syndrome	C05.116.099.674; C14.240.400.725; C14.280.400.725; C16.131.077.550; C16.131.240.400.720; C16.320.540; C17.300.500
D008575	Meniere Disease	C09.218.568.217.500
D009216	Myopia	C11.744.636
D065886	Neurodevelopmental Disorders	F03.625
D058499	Retinal Dystrophies	C11.768.585.658
C562524	Fibrochondrogenesis (supp.)
C535531	Intervertebral disc disease (supp.)
C536025	Marshall syndrome (supp.)
C562829	Megalocornea (supp.)
C536044	Osteogenesis imperfecta, type 3 (supp.)
C537493	Stickler syndrome, type 2 (supp.)
C562941	Telecanthus (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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
trichostatin A	increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	decreases expression, increases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
Estradiol	affects expression, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Progesterone	affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	increases expression	1
sodium arsenate	decreases expression	1
arsenite	increases methylation	1
butyraldehyde	decreases expression	1
aflatoxin B2	increases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
bisphenol S	increases expression	1
NSC 689534	affects binding, increases expression	1
bisphenol AF	increases expression	1
Dasatinib	increases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_DN52	GM22659	Transformed cell line	Male
CVCL_DN53	GM22786	Finite cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00165893	PHASE4	COMPLETED	Comparison of IDD Therapy and Non-surgical Treatment for Low Back Pain Caused by Degenerative Disc Disease
NCT01502644	PHASE4	COMPLETED	Opioid Treatment for Chronic Low Back Pain and the Impact of Mood Symptoms
NCT02429908	PHASE4	COMPLETED	Post-Market Surveillance Study of the TM Ardis Interbody Fusion System
NCT03060434	PHASE4	ACTIVE_NOT_RECRUITING	Pentoxifylline and Lumbar Radiculopathy
NCT03077204	PHASE4	COMPLETED	BIO4 Clinical Case Study: Cervical Spine
NCT03223701	PHASE4	WITHDRAWN	Efficacy of Using Solum IV and BMC With GFC in TLIF
NCT03514277	PHASE4	TERMINATED	A Prospective Study to Compare Bupivacaine and Exparel Versus Bupivacaine or Exparel Alone for Postoperative Pain Relief
NCT03745040	PHASE4	SUSPENDED	Liposomal Bupivacaine in One-level Instrumented Posterior Spinal Fusion
NCT03751943	PHASE4	UNKNOWN	NanoFUSE® PL Gutter PMCF
NCT04734327	PHASE4	UNKNOWN	Orthokine Therapy in Lumbar Degenerative Disease
NCT05029726	PHASE4	RECRUITING	Regional Anesthesia in Minimally Invasive Lumbar Spine Surgery
NCT05247021	PHASE4	UNKNOWN	Erector Spinae Plane Block in Spine Surgeries
NCT05345249	PHASE4	COMPLETED	Erector Spinae Plane Block as Pain Management After Lumbar Fusion Surgery
NCT06034041	PHASE4	UNKNOWN	The Effect of Mediclore as an Anti-adhesion Agent and Safety in Full-endoscopic Spine Surgery: a Preliminary Study
NCT00215306	PHASE3	COMPLETED	CHARITÉ™ Artificial Disc Compared to Anterior Interbody Fusion for Treatment of Degenerative Disc Disease
NCT00215319	PHASE3	COMPLETED	Titanium Surgical Mesh and MOSS-Miami Screws for Lumbar Fusion.
NCT00316121	PHASE3	COMPLETED	Safety and Efficacy Study of Healos as a Bone Replacement to Treat Degenerative Disc Disease
NCT00707265	PHASE3	COMPLETED	rhBMP-2/CRM/CD HORIZON® Spinal System Pivotal Study
NCT00927238	PHASE3	COMPLETED	XL TDR® eXtreme Lateral Total Disc Replacement for the Treatment of Lumbar Degenerative Disc Disease (DDD)
NCT01011816	PHASE3	TERMINATED	Treatment of Symptomatic Lumbar Internal Disc Disruption (IDD) With the Biostat® System
NCT01941563	PHASE3	COMPLETED	A Study of SI-6603 in Patients With Lumbar Disc Herniation
NCT02412735	PHASE3	COMPLETED	Placebo-controlled Study to Evaluate Rexlemestrocel-L Alone or Combined With Hyaluronic Acid in Participants With Chronic Low Back Pain
NCT02421601	PHASE3	COMPLETED	A Study of SI-6603 in Patients With Lumbar Disc Herniation
NCT03327272	PHASE3	WITHDRAWN	Impact of Local Steroid Application in Extreme Lateral Lumbar Interbody Fusion
NCT03513445	PHASE3	WITHDRAWN	Peri-Incisional Drug Injection in Lumbar Spine Surgery
NCT04816747	PHASE3	UNKNOWN	Intradiscal and Intra-articular Injection of Autologous Platelet-Rich-Plasma (PRP) in Patients With Lumbar Degenerative Disc Disease and Facet Joint Syndrome
NCT05444751	PHASE3	ENROLLING_BY_INVITATION	GA + ESP vs. SA + ESP in Lumbar Decompression Surgeries
NCT06115512	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study of AGA111 in Patients With Degenerative Disc Disease Undergoing Lumbar Interbody Fusion
NCT06325566	PHASE3	RECRUITING	Efficacy and Safety of Rexlemestrocel-L Combined With HA* in Participants With Moderate to Severe Chronic Low Back Pain
NCT07017634	PHASE3	RECRUITING	Efficacy and Safety of Novosis Putty in Transforaminal Lumbar Interbody Fusion for Patients With Lumbar Degenerative Disc Disease
NCT07254806	PHASE3	RECRUITING	A Study to Evaluate the Effectiveness of IDCT (Intradiscal Cell Therapy) in Subjects With One Level, Symptomatic Mild to Moderate Lumbar Degenerative Disc Disease
NCT04465188	PHASE2	WITHDRAWN	Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome
NCT00996073	PHASE2	COMPLETED	Safety and Preliminary Efficacy Study of NeoFuse in Subjects Requiring Lumbar Interbody Fusion
NCT01124006	PHASE2	COMPLETED	A Multicenter, Randomized, Double-blind, Placebo Controlled, Clinical Trial to Evaluate the Safety, Tolerability and Preliminary Effectiveness of 2 Doses of Intradiscal rhGDF-5 (Single Administration) for the Treatment of Early Stage Lumbar Disc Degeneration
NCT01290367	PHASE2	COMPLETED	Safety and Preliminary Efficacy Study of Mesenchymal Precursor Cells (MPCs) in Subjects With Lumbar Back Pain
NCT01771471	PHASE2	TERMINATED	A Study Comparing the Safety and Effectiveness of Cartilage Cell Injected Into the Lumbar Disc as Compared to a Placebo
NCT02205138	PHASE2	COMPLETED	Phase 2a Study on Allogeneic Osteoblastic Cells Implantation in Lumbar Spinal Fusion
NCT04042844	PHASE2	RECRUITING	A Single Dose of BRTX 100 for Patients With Chronic Lumbar Disc Disease (cLDD)
NCT04272606	PHASE2	COMPLETED	TXA in Spinal Fusion
NCT04294004	PHASE2	UNKNOWN	KUR-113 Bone Graft Versus Local Autograft for the Treatment of Single-level Transforaminal Lumbar Interbody Fusion