LRRC56

Summary

LRRC56 (leucine rich repeat containing 56, HGNC:25430) is a protein-coding gene on chromosome 11p15.5, encoding Leucine-rich repeat-containing protein 56 (Q8IYG6). Required for the assembly of dynein arms.

Predicted to be involved in cell projection organization. Predicted to be located in cilium. Implicated in primary ciliary dyskinesia 39.

Source: NCBI Gene 115399 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 39 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 530 total — 17 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 55
• MANE Select transcript: NM_198075

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25430
Approved symbol	LRRC56
Name	leucine rich repeat containing 56
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00101, oda8, DKFZp761L1518, DNAAF12
Ensembl gene	ENSG00000161328
Ensembl biotype	protein_coding
OMIM	618227
Entrez	115399

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 17 protein_coding

ENST00000270115, ENST00000886180, ENST00000886181, ENST00000886182, ENST00000886183, ENST00000886184, ENST00000886185, ENST00000886186, ENST00000886187, ENST00000932420, ENST00000932421, ENST00000969148, ENST00000969149, ENST00000969150, ENST00000969151, ENST00000969152, ENST00000969153

RefSeq mRNA: 1 — MANE Select: NM_198075 NM_198075

CCDS: CCDS7700

Canonical transcript exons

ENST00000270115 — 14 exons

Exon	Start	End
ENSE00001253820	551131	551302
ENSE00001293429	550072	550272
ENSE00001293891	541537	541624
ENSE00001301993	551651	551827
ENSE00001308976	549902	549998
ENSE00001309055	552569	552702
ENSE00001314170	551903	551967
ENSE00001314418	553963	554912
ENSE00001317308	540674	540861
ENSE00001326672	552090	552232
ENSE00001328314	544720	544780
ENSE00001419200	539580	539726
ENSE00001529341	538598	538860
ENSE00001851920	537527	537605

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 89.63.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8337 / max 21.6521, expressed in 440 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112209	0.8337	440

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	89.63	gold quality
right testis	UBERON:0004534	84.07	gold quality
left testis	UBERON:0004533	83.93	gold quality
testis	UBERON:0000473	82.94	gold quality
pituitary gland	UBERON:0000007	81.60	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.14	gold quality
adenohypophysis	UBERON:0002196	79.30	gold quality
nucleus accumbens	UBERON:0001882	78.01	gold quality
mucosa of transverse colon	UBERON:0004991	77.52	gold quality
caudate nucleus	UBERON:0001873	75.67	gold quality
putamen	UBERON:0001874	75.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	72.64	gold quality
cerebellar hemisphere	UBERON:0002245	71.81	gold quality
cerebellum	UBERON:0002037	71.80	gold quality
cerebellar cortex	UBERON:0002129	71.76	gold quality
fallopian tube	UBERON:0003889	71.02	gold quality
brain	UBERON:0000955	70.94	gold quality
lower esophagus mucosa	UBERON:0035834	70.93	gold quality
right frontal lobe	UBERON:0002810	70.16	gold quality
temporal lobe	UBERON:0001871	70.07	gold quality
amygdala	UBERON:0001876	69.91	gold quality
anterior cingulate cortex	UBERON:0009835	69.91	gold quality
metanephros cortex	UBERON:0010533	69.48	gold quality
frontal cortex	UBERON:0001870	69.32	gold quality
prefrontal cortex	UBERON:0000451	69.08	gold quality
esophagus mucosa	UBERON:0002469	68.74	gold quality
Ammon’s horn	UBERON:0001954	68.70	gold quality
cerebral cortex	UBERON:0000956	68.48	gold quality
right lung	UBERON:0002167	68.47	gold quality
prostate gland	UBERON:0002367	67.74	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting LRRC56, 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-23B-5P	99.98	66.07	587
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-299-3P	97.73	66.67	773
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-4265	96.18	64.68	557
HSA-MIR-4322	96.18	64.85	539
HSA-MIR-4781-3P	95.78	65.66	572
HSA-MIR-7108-3P	94.37	64.79	183
HSA-MIR-1539	92.91	60.97	91
HSA-MIR-1204	89.50	65.56	109
HSA-MIR-6840-5P	88.69	60.91	68

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	lrrc56	ENSDARG00000096081
mus_musculus	Lrrc56	ENSMUSG00000038637
rattus_norvegicus	Lrrc56	ENSRNOG00000016697
drosophila_melanogaster	CG14185	FBGN0036936

Protein

Protein identifiers

Leucine-rich repeat-containing protein 56 — Q8IYG6 (reviewed: Q8IYG6)

All UniProt accessions (1): Q8IYG6

UniProt curated annotations — full annotation on UniProt →

Function. Required for the assembly of dynein arms.

Subunit / interactions. Interacts with IFT88.

Subcellular location. Cell projection. Cilium.

Disease relevance. Ciliary dyskinesia, primary, 39 (CILD39) [MIM:618254] A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the LRRC56 family.

RefSeq proteins (1): NP_932341* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR025875	Leu-rich_rpt_4	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR040091	LRRC56	Family

Pfam: PF12799

UniProt features (19 total): sequence variant 7, repeat 5, region of interest 3, compositionally biased region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYG6-F1	56.07	0.16

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 153 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, CYTAGCAAY_UNKNOWN, GOBP_CELL_PROJECTION_ORGANIZATION, E2F_Q6_01, CUI_TCF21_TARGETS_2_UP, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_DN, GSE13522_WT_VS_IFNG_KO_SKIN_UP, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, FOXD2_TARGET_GENES, HOXB6_TARGET_GENES, ZNF592_TARGET_GENES

GO Biological Process (1): cell projection organization (GO:0030030)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular component organization	1
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cellular anatomical structure	1

Protein interactions and networks

STRING

869 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC56	GAS2L2	Q8NHY3	635
LRRC56	ODAD4	Q96NG3	616
LRRC56	PIH1D2	Q8WWB5	590
LRRC56	ODAD3	A5D8V7	578
LRRC56	CCDC63	Q8NA47	575
LRRC56	CFAP300	Q9BRQ4	569
LRRC56	PIH1D1	Q9NWS0	564
LRRC56	RSPH3	Q86UC2	560
LRRC56	CFAP298	P57076	556
LRRC56	DNAAF3	Q8N9W5	543
LRRC56	DNAAF5	Q86Y56	513
LRRC56	CFAP221	Q4G0U5	507
LRRC56	ODAD2	Q5T2S8	495
LRRC56	DNAAF4	Q8WXU2	488
LRRC56	DNAAF19	Q8IW40	485

IntAct

27 interactions, top by confidence:

A	B	Type	Score
HSF2BP	LRRC56	psi-mi:“MI:0915”(physical association)	0.560
CASP6	LRRC56	psi-mi:“MI:0915”(physical association)	0.560
LRRC56	HIP1	psi-mi:“MI:0915”(physical association)	0.560
HMOX2	LRRC56	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	LRRC56	psi-mi:“MI:0915”(physical association)	0.560
RAN	LRRC56	psi-mi:“MI:0915”(physical association)	0.560
LRRC56	CYCS	psi-mi:“MI:0915”(physical association)	0.560
LRRC56	HSPA8	psi-mi:“MI:0914”(association)	0.530
TRIM63	LRRC56	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	LRRC56	psi-mi:“MI:0915”(physical association)	0.000
HSF2BP	LRRC56	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): RANGRF (Affinity Capture-MS), METAP1D (Affinity Capture-MS), MAPK9 (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), LRRC56 (Two-hybrid), LRRC56 (Two-hybrid), LRRC56 (Two-hybrid), LRRC56 (Affinity Capture-RNA), HSPA8 (Affinity Capture-MS), RANGRF (Affinity Capture-MS), MAPK9 (Affinity Capture-MS), METAP1D (Affinity Capture-MS), PPP2CA (Affinity Capture-MS)

ESM2 similar proteins: A0A8I5KY20, A4IHR5, A6H7J1, A7UKY7, B7Z1M9, C9JLR9, E1BDF2, F5GYI3, G3V9M2, P0CG09, P0CG25, Q01101, Q0IIA6, Q0PHV7, Q13387, Q2TAM9, Q32KV8, Q4VA45, Q52KG4, Q5U4P2, Q63ZV0, Q673H1, Q69YZ2, Q6P6N5, Q6PAJ3, Q6PJ61, Q7L591, Q7Z6J2, Q86SH2, Q86UD0, Q8BNN1, Q8IUW3, Q8IYG6, Q8N554, Q8NBR0, Q8R4T5, Q8TF61, Q96C00, Q96G42, Q96IQ9

Diamond homologs: B6CZ40, B6CZ45, B6CZ54, B6CZ61, O35125, O43822, P09661, P34390, P57784, Q16RY9, Q28CU0, Q32KP2, Q4R8Y8, Q4V8C9, Q53EV4, Q5EAD8, Q7PK92, Q8IYG6, Q8K375, Q96E66, Q9DAK8, A0A1L8G016, B3DH20, Q09JZ4, Q28FY0, Q6AYH9, Q8CDN9, P43333, Q6NRC9, Q6ZRR7, Q9BLB6, O01615, O43423, O62220, O95626, P39687, P51122, P97822, Q28XE2, Q3SZC6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	7
Uncertain significance	208
Likely benign	216
Benign	50

Top pathogenic / likely-pathogenic (24)

Variant ID	HGVS	Classification
1198752	NM_005343.4(HRAS):c.468C>G (p.Phe156Leu)	Pathogenic
1424810	NM_198075.4(LRRC56):c.598C>T (p.Gln200Ter)	Pathogenic
1469816	NM_198075.4(LRRC56):c.478del (p.Glu160fs)	Pathogenic
1929009	NM_198075.4(LRRC56):c.1053dup (p.Glu352fs)	Pathogenic
2095079	NM_198075.4(LRRC56):c.1194T>A (p.Tyr398Ter)	Pathogenic
2190210	NM_198075.4(LRRC56):c.832_833insTTCAA (p.Pro278fs)	Pathogenic
2414338	NM_198075.4(LRRC56):c.1225dup (p.Val409fs)	Pathogenic
3244795	NC_000011.9:g.(?544700)(544800_?)del	Pathogenic
3620667	NM_198075.4(LRRC56):c.840_841insCCTGAGACTTGACAGG (p.Ser281delinsProGluThrTer)	Pathogenic
3711539	NM_198075.4(LRRC56):c.711_712del (p.Gly238fs)	Pathogenic
4698827	NM_198075.4(LRRC56):c.728dup (p.Arg244fs)	Pathogenic
4725315	NM_198075.4(LRRC56):c.1066C>T (p.Gln356Ter)	Pathogenic
4747658	NM_198075.4(LRRC56):c.544C>T (p.Gln182Ter)	Pathogenic
599210	NM_198075.4(LRRC56):c.423+1G>A	Pathogenic
599211	NM_198075.4(LRRC56):c.419T>C (p.Leu140Pro)	Pathogenic
599212	NM_198075.4(LRRC56):c.760G>T (p.Glu254Ter)	Pathogenic
599213	NM_198075.4(LRRC56):c.326+1G>A	Pathogenic
1432796	NM_198075.4(LRRC56):c.624+1G>A	Likely pathogenic
2849173	NM_198075.4(LRRC56):c.1181+1G>T	Likely pathogenic
2975607	NM_198075.4(LRRC56):c.624+2T>A	Likely pathogenic
3608996	NM_198075.4(LRRC56):c.625-2A>C	Likely pathogenic
4372415	NM_198075.4(LRRC56):c.1316-2A>G	Likely pathogenic
4533349	NM_198075.4(LRRC56):c.1036C>T (p.Gln346Ter)	Likely pathogenic
4845867	NM_198075.4(LRRC56):c.1398_1404dup (p.Ser469fs)	Likely pathogenic

SpliceAI

2513 predictions. Top by Δscore:

Variant	Effect	Δscore
11:549900:AG:A	acceptor_gain	1.0000
11:549901:GG:G	acceptor_gain	1.0000
11:549996:AAGGT:A	donor_loss	1.0000
11:549997:AGGT:A	donor_loss	1.0000
11:549998:GGT:G	donor_loss	1.0000
11:549999:GTG:G	donor_loss	1.0000
11:550090:A:AG	acceptor_gain	1.0000
11:551354:G:GT	donor_gain	1.0000
11:541535:A:AG	acceptor_gain	0.9900
11:541536:G:GG	acceptor_gain	0.9900
11:541536:GCA:G	acceptor_gain	0.9900
11:541622:TTGG:T	donor_loss	0.9900
11:541623:TGGTG:T	donor_loss	0.9900
11:541624:GGTGA:G	donor_loss	0.9900
11:541625:G:T	donor_loss	0.9900
11:541626:T:G	donor_loss	0.9900
11:544718:A:AG	acceptor_gain	0.9900
11:544718:AG:A	acceptor_gain	0.9900
11:544719:G:GG	acceptor_gain	0.9900
11:544719:GG:G	acceptor_gain	0.9900
11:544779:AGGTG:A	donor_loss	0.9900
11:544781:G:T	donor_loss	0.9900
11:544782:T:G	donor_loss	0.9900
11:549897:T:TA	acceptor_gain	0.9900
11:549899:CA:C	acceptor_loss	0.9900
11:549900:A:AG	acceptor_gain	0.9900
11:549900:AGG:A	acceptor_gain	0.9900
11:549901:G:GG	acceptor_gain	0.9900
11:549901:GGG:G	acceptor_gain	0.9900
11:549901:GGGA:G	acceptor_gain	0.9900

AlphaMissense

3435 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:550158:C:A	N170K	0.991
11:550158:C:G	N170K	0.991
11:550217:T:A	L190H	0.988
11:550233:C:A	N195K	0.988
11:550233:C:G	N195K	0.988
11:550148:T:C	L167P	0.985
11:550092:C:A	N148K	0.983
11:550092:C:G	N148K	0.983
11:550076:T:C	L143P	0.982
11:544747:T:C	L98P	0.980
11:544761:A:C	S103R	0.979
11:544763:C:A	S103R	0.979
11:544763:C:G	S103R	0.979
11:550133:T:C	L162S	0.979
11:551195:A:T	D230V	0.979
11:550157:A:T	N170I	0.977
11:550217:T:C	L190P	0.977
11:551194:G:C	D230H	0.977
11:549994:T:A	L140H	0.976
11:550190:T:C	L181S	0.974
11:550091:A:T	N148I	0.973
11:550142:T:C	L165P	0.973
11:550217:T:G	L190R	0.968
11:550148:T:G	L167R	0.967
11:544753:T:C	L100P	0.966
11:550232:A:T	N195I	0.965
11:544747:T:A	L98Q	0.964
11:550142:T:G	L165R	0.964
11:550076:T:A	L143H	0.963
11:549907:T:C	L111S	0.959

dbSNP variants (sampled 300 via entrez): RS1000052897 (11:532216 G>C), RS1000075168 (11:510234 G>T), RS1000100997 (11:545594 T>C), RS1000296997 (11:542248 C>T), RS1000301383 (11:537635 A>T), RS1000311086 (11:512159 G>A), RS1000373235 (11:537844 G>C,T), RS1000384247 (11:510784 C>A), RS1000409663 (11:523083 C>T), RS1000439430 (11:508631 G>C), RS1000454829 (11:554607 G>A), RS1000542511 (11:520797 C>T), RS1000635904 (11:520998 T>C), RS1000647400 (11:542476 C>T), RS1000653552 (11:513956 G>A)

Disease associations

OMIM: gene MIM:618227 | disease phenotypes: MIM:218040, MIM:618254, MIM:163200, MIM:137550, MIM:244400, MIM:109800, MIM:162900, MIM:188470, MIM:163950

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 39	Strong	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 39	Moderate	AR

Mondo (14): Costello syndrome (MONDO:0009026), ciliary dyskinesia, primary, 39 (MONDO:0032637), linear nevus sebaceous syndrome (MONDO:0008097), lip and oral cavity carcinoma (MONDO:0023644), large congenital melanocytic nevus (MONDO:0044792), primary ciliary dyskinesia 1 (MONDO:0009484), urinary bladder cancer (MONDO:0001187), nevus, epidermal (MONDO:0008093), thyroid cancer, nonmedullary, 2 (MONDO:0008566), hereditary neoplastic syndrome (MONDO:0015356), Noonan syndrome and Noonan-related syndrome (MONDO:0020297), RASopathy (MONDO:0021060), Noonan syndrome (MONDO:0018997), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (11): Costello syndrome (Orphanet:3071), Linear nevus sebaceus syndrome (Orphanet:2612), Large/giant congenital melanocytic nevus (Orphanet:626), Primary ciliary dyskinesia (Orphanet:244), Inherited cancer-predisposing syndrome (Orphanet:140162), RASopathy (Orphanet:536391), Woolly hair nevus (Orphanet:79414), Noonan syndrome and Noonan-related syndrome (Orphanet:98733), Noonan syndrome (Orphanet:648), Primary ciliary dyskinesia, Kartagener type (Orphanet:98861), NON RARE IN EUROPE: Bladder cancer (Orphanet:157980)

HPO phenotypes

55 total (30 of 55 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001651	Dextrocardia
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002783	Recurrent lower respiratory tract infections
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003577	Congenital onset
HP:0005301	Persistent left superior vena cava

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003155_11	Systemic lupus erythematosus	9.000000e-10

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D056685	Costello Syndrome	C05.660.207.219; C16.131.077.256; C16.320.188
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D009634	Noonan Syndrome	C05.660.207.690; C14.240.400.787; C14.280.400.787; C16.131.240.400.784; C16.131.621.207.690; C17.300.690
C580062	Epidermal Nevus (supp.)
C537846	Noonan like syndrome (supp.)
C572845	Thyroid cancer, follicular (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	2
afuresertib	increases expression	1
terbufos	increases methylation	1
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Fonofos	increases methylation	1
Parathion	increases methylation	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04320316	PHASE4	COMPLETED	A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS)
NCT01418118	PHASE4	COMPLETED	Assessment of the Effects of Pressors on Graft Blood Flow After Free Tissue Transfer Surgery
NCT03017053	PHASE4	UNKNOWN	The Optimal Neck Treatments Strategy of Early Oral Cancer Based on Adverse Pathological Factor
NCT03684707	PHASE4	UNKNOWN	Cancer Chemoprevention by Metformin Hydrochloride Compared to Placebo in Oral Potentially Malignant Lesions
NCT00158652	PHASE3	COMPLETED	Accelerated Radiotherapy and Concomitant Chemo-radiotherapy in HNSCC
NCT00158678	PHASE3	COMPLETED	IMRT Plus Cisplatin Versus Conventional Radiotherapy Plus Cisplatin in Stage III-IV HNSCC
NCT00402779	PHASE3	COMPLETED	Erlotinib Prevention of Oral Cancer (EPOC)
NCT00655421	PHASE3	UNKNOWN	Oral Cancer Screening in Mumbai, India by Primary Health Care Workers
NCT00750503	PHASE3	COMPLETED	Workplace Tobacco Cessation And Oral Cancer Screening Study
NCT00964977	PHASE3	COMPLETED	Effectiveness of Adjuvant Radiotherapy in Small Oropharyngeal Squamous Cell Cancer and Single Lymph Node Metastasis.
NCT01039298	PHASE3	UNKNOWN	Efficacy of Optically-guided Surgery in the Management of Early-staged Oral Cancer - COOLS TRIAL
NCT03685409	PHASE3	UNKNOWN	Cancer Chemoprevention by Metformin Hydrochloride in Oral Potentially Malignant Lesions
NCT05721755	PHASE3	ACTIVE_NOT_RECRUITING	Combining Radiation Therapy With Immunotherapy for the Treatment of Metastatic Squamous Cell Carcinoma of the Head and Neck
NCT06589804	PHASE3	RECRUITING	Testing the Addition of Anti-Cancer Drug, Cetuximab, to Standard of Care Treatment (Pembrolizumab) for Returning or Spreading Head and Neck Cancer After Previous Treatment
NCT06737822	PHASE3	RECRUITING	Upfront Surgery Vs Induction Chemotherapy Followed By Surgery In Oral Cancers:
NCT07402538	PHASE3	NOT_YET_RECRUITING	Surgery With or Without Neoadjuvant Treatment of SBRT Plus Chemoimmunotherapy in Resectable Locally Advanced Oral and HPV-unrelated Oropharyngeal Squamous Cell Carcinoma
NCT07441681	PHASE3	NOT_YET_RECRUITING	Comparing Radiation Plus Cetuximab to Radiation Plus Chemotherapy in People With Head and Neck Cancer Who Cannot Receive Cisplatin
NCT00384891	PHASE3	TERMINATED	Hyperthermia Treatment in Conjunction With Mitomycin C Versus Bacillus Calmette-Guérin Immunotherapy (BCG) for Superficial Bladder Cancer
NCT03335059	PHASE3	TERMINATED	Mitomycin C Intravesical Chemotherapy in Conjunction With Synergo® Radiofrequency-Induced Hyperthermia for Treatment of Carcinoma in Situ Non-Muscle Invasive Bladder Cancer Patients Unresponsive to Bacillus Calmette-Guérin, With or Without Papillary Tumors.
NCT04534075	PHASE3	COMPLETED	Dietary Fiber During Radiotherapy - a Placebo-controlled Randomized Trial
NCT05822934	PHASE3	ACTIVE_NOT_RECRUITING	Carboplatin-gemcitabine Versus Cisplatin- Gemcitabine as Neoadjuvant Chemotherapy for Treatment of Muscle Invasive Urinary Bladder Cancer
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT02304367	PHASE2	COMPLETED	Study of Burosumab (KRN23) in Adults With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)
NCT00330382	PHASE2	COMPLETED	Bowman-Birk Inhibitor Concentrate in Preventing Cancer in Patients With Oral Leukoplakia
NCT00400205	PHASE2	TERMINATED	Study of Induction Docetaxel, Cisplatin and 5-Fluorouracil
NCT00933387	PHASE2	COMPLETED	A Study of Neoadjuvant Bio-C/T Followed by Concurrent Bio-R/T in High-risk Locally Advanced Oral Squamous Cell Carcinoma
NCT01440270	PHASE2	COMPLETED	Neo-adjuvant Erbitux-based Chemotherapy for Locally Advanced Oral/Oropharyngeal Cancer
NCT01733797	PHASE2	COMPLETED	Trismus Trial of Therabite vs Wooden Spatula in Head and Neck Cancer Patients
NCT02734537	PHASE2	RECRUITING	Radiation Therapy With or Without Cisplatin in Treating Patients With Stage III-IVA Squamous Cell Carcinoma of the Head and Neck Who Have Undergone Surgery
NCT02960724	PHASE2	UNKNOWN	uPAR PET/CT for Staging Advanced and Localised Oral and Oropharyngeal Cancer
NCT03008694	PHASE2	UNKNOWN	Effect of FDG-PET/CT for Simulation and Radiation Treatment Planning in Oral Cancer Patients
NCT03174275	PHASE2	ACTIVE_NOT_RECRUITING	Carboplatin, Nab-Paclitaxel, Durvalumab Before Surgery and Adjuvant Therapy in Head and Neck Squamous Cell Carcinoma
NCT03383094	PHASE2	ACTIVE_NOT_RECRUITING	Chemoradiation vs Immunotherapy and Radiation for Head and Neck Cancer
NCT03529422	PHASE2	ACTIVE_NOT_RECRUITING	Durvalumab With Radiotherapy for Adjuvant Treatment of Intermediate Risk SCCHN
NCT04191460	PHASE2	RECRUITING	Fluorescence-guided Surgery Using cRGD-ZW800-1 in Oral Cancer
NCT04251949	PHASE2	COMPLETED	Evaluation of the Photobiomodulation Using LED Lamp for Curative Treatment of Radio-induced Mucositis.
NCT04541355	PHASE2	COMPLETED	Sodium Thiosulfate in Preventing Ototoxicity for Squamous Cell Cancer Patients Undergoing Chemoradiation With Cisplatin
NCT04862650	PHASE2	ACTIVE_NOT_RECRUITING	Cemiplimab, Low-Dose Paclitaxel and Carboplatin for the Treatment of Recurrent/Metastatic Squamous Cell Carcinoma of the Head and Neck
NCT05136196	PHASE2	RECRUITING	BiCaZO: A Study Combining Two Immunotherapies (Cabozantinib and Nivolumab) to Treat Patients With Advanced Melanoma or Squamous Cell Head and Neck Cancer, an immunoMATCH Pilot Study