SNTB1

Summary

SNTB1 (syntrophin beta 1, HGNC:11168) is a protein-coding gene on chromosome 8q24.12, encoding Beta-1-syntrophin (Q13884). Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins.

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes.

Source: NCBI Gene 6641 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 111 total
• MANE Select transcript: NM_021021

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11168
Approved symbol	SNTB1
Name	syntrophin beta 1
Location	8q24.12
Locus type	gene with protein product
Status	Approved
Aliases	59-DAP, A1B, BSYN2, TIP-43, SNT2
Ensembl gene	ENSG00000172164
Ensembl biotype	protein_coding
OMIM	600026
Entrez	6641

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000395601, ENST00000517992, ENST00000519177, ENST00000519298, ENST00000520717, ENST00000648490

RefSeq mRNA: 1 — MANE Select: NM_021021 NM_021021

CCDS: CCDS6334

Canonical transcript exons

ENST00000517992 — 7 exons

Exon	Start	End
ENSE00001157484	120541810	120542000
ENSE00001157766	120548762	120548958
ENSE00002112821	120535756	120538969
ENSE00002119547	120811273	120812046
ENSE00003513762	120632444	120632651
ENSE00003654490	120575086	120575225
ENSE00003701159	120693692	120693908

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 96.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.2763 / max 349.6853, expressed in 1388 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94650	3.3896	990
94651	2.7205	956
94653	2.0602	691
94648	1.5648	741
94652	0.7200	323
94654	0.5635	216
94649	0.2402	114
94655	0.0175	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland	UBERON:0001233	96.22	gold quality
right adrenal gland cortex	UBERON:0035827	96.12	gold quality
left adrenal gland	UBERON:0001234	95.57	gold quality
left adrenal gland cortex	UBERON:0035825	95.35	gold quality
adrenal cortex	UBERON:0001235	94.63	gold quality
adrenal gland	UBERON:0002369	94.24	gold quality
right lobe of liver	UBERON:0001114	92.89	gold quality
bronchial epithelial cell	CL:0002328	91.64	gold quality
liver	UBERON:0002107	91.57	gold quality
right lobe of thyroid gland	UBERON:0001119	91.43	gold quality
left lobe of thyroid gland	UBERON:0001120	91.38	gold quality
adrenal tissue	UBERON:0018303	91.33	gold quality
pigmented layer of retina	UBERON:0001782	91.28	gold quality
thyroid gland	UBERON:0002046	91.25	gold quality
parotid gland	UBERON:0001831	90.07	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	89.45	gold quality
monocyte	CL:0000576	88.90	gold quality
mononuclear cell	CL:0000842	88.66	gold quality
leukocyte	CL:0000738	88.35	gold quality
lower lobe of lung	UBERON:0008949	87.41	gold quality
body of pancreas	UBERON:0001150	86.13	gold quality
stromal cell of endometrium	CL:0002255	86.00	gold quality
tibial artery	UBERON:0007610	85.17	gold quality
popliteal artery	UBERON:0002250	85.15	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.78	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.43	gold quality
sural nerve	UBERON:0015488	84.38	gold quality
right lung	UBERON:0002167	84.24	gold quality
trabecular bone tissue	UBERON:0002483	84.19	gold quality
epithelium of bronchus	UBERON:0002031	83.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	46.91
E-ANND-3	yes	12.62
E-CURD-114	yes	9.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

179 targeting SNTB1, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 8)

• beta1-syntrophin acts through a class-I PDZ interaction with the C terminus of ABCA1 to regulate the cellular distribution and activity of the transporter (PMID:16192269)
• SNTB1 and MCPH1 are located on chromosome 8, which may be involved in neuroticism, avoidant personality and depression. (PMID:24975899)
• SNPs within the SNTB1 gene are associated with increased risk of oral cancer. (PMID:28595731)
• Our study confirms that the two susceptibility loci ZFHX1B and SNTB1 are associated with moderate to high myopia in a Han Chinese population, as well as in a European population, when both SNPs are combined. (PMID:28848321)
• Association of the ZC3H11B, ZFHX1B and SNTB1 genes with myopia of different severities. (PMID:31300455)
• Association of SNTB1 with High Myopia. (PMID:32452213)
• SNTB1 regulates colorectal cancer cell proliferation and metastasis through YAP1 and the WNT/beta-catenin pathway. (PMID:37592763)
• The SNTB1 and ZFHX1B gene have susceptibility in northern Han Chinese populations with high myopia. (PMID:37890754)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sntb1	ENSDARG00000041729
mus_musculus	Sntb1	ENSMUSG00000060429
rattus_norvegicus	Sntb1	ENSRNOG00000004821
drosophila_melanogaster	Syn1	FBGN0037130
caenorhabditis_elegans	stn-1	WBGENE00006062

Paralogs (4): SNTA1 (ENSG00000101400), SNTG1 (ENSG00000147481), SNTB2 (ENSG00000168807), SNTG2 (ENSG00000172554)

Protein

Protein identifiers

Beta-1-syntrophin — Q13884 (reviewed: Q13884)

Alternative names: 59 kDa dystrophin-associated protein A1 basic component 1, BSYN2, Syntrophin-2, Tax interaction protein 43

All UniProt accessions (3): Q13884, A0A3B3ITC2, E5RIX7

UniProt curated annotations — full annotation on UniProt →

Function. Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.

Subunit / interactions. Monomer and homodimer. Interacts with the other members of the syntrophin family SNTA1 and SNTB2; with the sodium channel proteins SCN4A and SCN5A. Interacts with the viral HTLV-1 TAX protein and with dystrophin protein DMD and related proteins DTNA and UTRN. Interacts with DTNB.

Subcellular location. Cell membrane. Sarcolemma. Cell junction. Cytoplasm. Cytoskeleton.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated by CaM-kinase II.

Domain organisation. The PH 1 domain mediates the oligomerization in a calcium dependent manner. The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane. The SU domain binds calmodulin in a calcium-dependent manner.

Similarity. Belongs to the syntrophin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q13884-1	1	yes
Q13884-2	2

RefSeq proteins (1): NP_066301* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR015482	Syntrophin	Family
IPR036034	PDZ_sf	Homologous_superfamily
IPR041428	PHsplit_syntrophin	Domain
IPR055108	Syntrophin_4th	Domain

Pfam: PF00169, PF00595, PF18012, PF23012

UniProt features (29 total): modified residue 9, strand 5, domain 4, helix 3, splice variant 2, region of interest 2, initiator methionine 1, chain 1, turn 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7P70	X-RAY DIFFRACTION	2
7PC4	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13884-F1	79.56	0.51

Functional residue map

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

Post-translational modifications (9): 87, 126, 205, 214, 219, 232, 236, 389, 2

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)
R-HSA-1474244	Extracellular matrix organization
R-HSA-3000171	Non-integrin membrane-ECM interactions

MSigDB gene sets: 181 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, BENPORATH_ES_WITH_H3K27ME3, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MUSCLE_CONTRACTION, TSENG_IRS1_TARGETS_DN, GOMF_ACTIN_BINDING, BASAKI_YBX1_TARGETS_DN, GOBP_MUSCLE_SYSTEM_PROCESS, GOBP_SENSORY_ORGAN_DEVELOPMENT, CUI_TCF21_TARGETS_2_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, RODRIGUES_DCC_TARGETS_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN

GO Biological Process (1): muscle contraction (GO:0006936)

GO Molecular Function (5): actin binding (GO:0003779), structural molecule activity (GO:0005198), calmodulin binding (GO:0005516), PDZ domain binding (GO:0030165), protein binding (GO:0005515)

GO Cellular Component (11): cytoskeleton (GO:0005856), plasma membrane (GO:0005886), focal adhesion (GO:0005925), dystrophin-associated glycoprotein complex (GO:0016010), protein-containing complex (GO:0032991), sarcolemma (GO:0042383), synapse (GO:0045202), cytoplasm (GO:0005737), endomembrane system (GO:0012505), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Non-integrin membrane-ECM interactions	1
Extracellular matrix organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
plasma membrane	2
cell junction	2
muscle system process	1
cytoskeletal protein binding	1
molecular_function	1
protein binding	1
protein domain specific binding	1
binding	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
cell-substrate junction	1
glycoprotein complex	1
plasma membrane protein complex	1
cellular_component	1
intracellular anatomical structure	1
vacuole	1

Protein interactions and networks

STRING

810 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNTB1	DMD	P11532	956
SNTB1	SGCD	Q92629	880
SNTB1	SGCA	Q16586	879
SNTB1	UTRN	P46939	859
SNTB1	SGCG	Q13326	848
SNTB1	DTNA	Q9Y4J8	846
SNTB1	DAG1	Q14118	811
SNTB1	SGCB	Q16585	790
SNTB1	SSPN	Q14714	745
SNTB1	DTNB	O60941	661
SNTB1	ABCA1	O95477	660
SNTB1	MYBPC1	Q00872	658
SNTB1	ZC3H11B	A0A1B0GTU1	574
SNTB1	OTC	P00480	546
SNTB1	CAVIN1	Q6NZI2	539

IntAct

474 interactions, top by confidence:

A	B	Type	Score
DTNB	DMD	psi-mi:“MI:0914”(association)	0.890
DMD	DTNB	psi-mi:“MI:0914”(association)	0.890
SNTB1	DMD	psi-mi:“MI:0915”(physical association)	0.840
DMD	SNTB1	psi-mi:“MI:0915”(physical association)	0.840
ADRA1D	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.840
ADRA1D	UTRN	psi-mi:“MI:0914”(association)	0.770
ADRA1D	UTRN	psi-mi:“MI:0915”(physical association)	0.770
HMG20A	KDM1A	psi-mi:“MI:0914”(association)	0.730
PTEN	PTEN	psi-mi:“MI:0915”(physical association)	0.710
ABCA1	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.700
SNTB2	CASK	psi-mi:“MI:0914”(association)	0.670
SNTB1	E6	psi-mi:“MI:0407”(direct interaction)	0.640
Tax	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.640
SNTB1	Tax	psi-mi:“MI:0915”(physical association)	0.640
E6	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.640
SNTB1	E6	psi-mi:“MI:0915”(physical association)	0.640
SNTB1	SLC16A7	psi-mi:“MI:0407”(direct interaction)	0.620
SNTB1	GUCY1A2	psi-mi:“MI:0407”(direct interaction)	0.620
SNTB1	MAPK12	psi-mi:“MI:0407”(direct interaction)	0.620
SNTB1	FRMPD4	psi-mi:“MI:0407”(direct interaction)	0.620
SNTB1	TANC1	psi-mi:“MI:0407”(direct interaction)	0.620
SNTB1	CYSLTR2	psi-mi:“MI:0407”(direct interaction)	0.620

BioGRID (96): SNTB1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Proximity Label-MS), SNTB1 (Affinity Capture-MS), SNTB1 (Protein-peptide), SNTB1 (Proximity Label-MS), SNTB1 (Proximity Label-MS), SNTB1 (Affinity Capture-RNA), SNTB1 (Affinity Capture-MS)

ESM2 similar proteins: A2AB59, B5KFD7, E7F221, F1LYQ8, F8VPU2, O19179, O94887, O95382, P21709, P54760, P54761, P70218, Q02846, Q03160, Q0P5E6, Q13424, Q13425, Q13884, Q14451, Q15027, Q1RMW5, Q28626, Q32P44, Q4ACU6, Q4LDD4, Q61234, Q61235, Q6P9Q4, Q6TLK4, Q6V7V2, Q8C6B2, Q8R5F8, Q8R5G7, Q8TE68, Q8VC03, Q8WWN8, Q91VS8, Q925E0, Q93646, Q96AX9

Diamond homologs: A0A8C0TYJ0, A0A8P0N4K0, B4F7E7, D3ZAA9, E2QY99, E2QYC9, E7FDW2, F1MAD2, G5ECY0, O14910, O15018, O55164, O75970, O84033, O88382, O88951, O88952, P15454, P31006, P31007, P31016, P46195, P57105, P68907, P70175, P78352, P93757, Q0P5F3, Q0SS73, Q0TPK6, Q12959, Q13425, Q13884, Q14160, Q15700, Q16774, Q24210, Q255A8, Q28C55, Q2KIB6

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
SNTB1	“form complex”	DGC	binding
SNTB1	down-regulates	MAPK12	binding
SNTB1	down-regulates	MAPK12
MAPK12/CARM1	“up-regulates activity”	SNTB1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the dystrophin-glycoprotein complex (DGC)	6	16.4×	8e-04
Assembly and cell surface presentation of NMDA receptors	5	11.2×	9e-03
Cardiac conduction	8	7.7×	2e-03
Muscle contraction	8	5.5×	9e-03
RAF/MAP kinase cascade	9	4.9×	9e-03
RHO GTPase cycle	9	4.8×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	5	14.0×	5e-03
positive regulation of ERK1 and ERK2 cascade	9	5.1×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	100
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2496 predictions. Top by Δscore:

Variant	Effect	Δscore
8:120541803:CACT:C	donor_loss	1.0000
8:120541804:ACTT:A	donor_loss	1.0000
8:120541805:CTTAC:C	donor_loss	1.0000
8:120541806:TTA:T	donor_loss	1.0000
8:120541807:TACAA:T	donor_loss	1.0000
8:120541808:A:AC	donor_gain	1.0000
8:120541808:ACAAT:A	donor_gain	1.0000
8:120541809:C:CG	donor_gain	1.0000
8:120541809:CA:C	donor_gain	1.0000
8:120541809:CAA:C	donor_gain	1.0000
8:120541809:CAAT:C	donor_gain	1.0000
8:120541809:CAATC:C	donor_gain	1.0000
8:120541848:T:TA	donor_gain	1.0000
8:120541996:GCAAG:G	acceptor_gain	1.0000
8:120541997:CAAG:C	acceptor_gain	1.0000
8:120541997:CAAGC:C	acceptor_gain	1.0000
8:120541998:AAG:A	acceptor_gain	1.0000
8:120541999:AG:A	acceptor_gain	1.0000
8:120541999:AGC:A	acceptor_loss	1.0000
8:120542000:GC:G	acceptor_loss	1.0000
8:120542001:C:CC	acceptor_gain	1.0000
8:120548954:CCAGC:C	acceptor_gain	1.0000
8:120548955:CAGCC:C	acceptor_gain	1.0000
8:120575131:T:TA	donor_gain	1.0000
8:120575135:T:TA	donor_gain	1.0000
8:120632438:CCTTA:C	donor_loss	1.0000
8:120632439:CTTA:C	donor_loss	1.0000
8:120632440:TTA:T	donor_loss	1.0000
8:120632441:TA:T	donor_loss	1.0000
8:120632443:C:CT	donor_loss	1.0000

AlphaMissense

3479 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:120811278:A:G	L189P	1.000
8:120811301:C:A	K181N	1.000
8:120811301:C:G	K181N	1.000
8:120811303:T:C	K181E	1.000
8:120811305:A:C	L180W	1.000
8:120811305:A:G	L180S	1.000
8:120811318:C:G	A176P	1.000
8:120811325:G:C	H173Q	1.000
8:120811325:G:T	H173Q	1.000
8:120811326:T:C	H173R	1.000
8:120811327:G:A	H173Y	1.000
8:120811327:G:C	H173D	1.000
8:120811327:G:T	H173N	1.000
8:120811341:A:G	L168P	1.000
8:120811365:A:C	I160S	1.000
8:120811365:A:G	I160T	1.000
8:120811365:A:T	I160N	1.000
8:120811368:G:T	A159D	1.000
8:120811369:C:G	A159P	1.000
8:120811371:T:A	D158V	1.000
8:120811371:T:C	D158G	1.000
8:120811371:T:G	D158A	1.000
8:120811372:C:G	D158H	1.000
8:120811374:C:A	G157V	1.000
8:120811374:C:T	G157D	1.000
8:120811375:C:G	G157R	1.000
8:120811383:A:G	L154P	1.000
8:120811383:A:T	L154Q	1.000
8:120811401:G:T	A148E	1.000
8:120811415:G:C	F143L	1.000

dbSNP variants (sampled 300 via entrez): RS1000009743 (8:120797105 A>C), RS1000043255 (8:120730871 G>A), RS1000045197 (8:120594259 C>CA), RS1000062366 (8:120637058 A>C,G,T), RS1000064662 (8:120765957 A>AC), RS1000071769 (8:120649243 C>T), RS1000073918 (8:120807909 ATTTTTTAT>A), RS1000076268 (8:120594001 T>C), RS1000094667 (8:120557418 G>A), RS1000108732 (8:120549529 G>A), RS1000129493 (8:120581373 G>A,T), RS1000130378 (8:120572388 T>C), RS1000139329 (8:120694443 G>A,T), RS1000147154 (8:120699520 C>G,T), RS1000165467 (8:120638326 C>A,T)

Disease associations

OMIM: gene MIM:600026 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): lip and oral cavity carcinoma (MONDO:0023644)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST001881_1	Myopia (pathological)	4.000000e-10
GCST001881_2	Myopia (pathological)	8.000000e-12
GCST001881_5	Myopia (pathological)	2.000000e-11
GCST002117_1	Myopia (severe)	2.000000e-09
GCST002126_26	Periodontitis (CDC/AAP)	3.000000e-06
GCST003680_4	C-reactive protein levels or HDL-cholesterol levels (pleiotropy)	3.000000e-08
GCST004032_7	JT interval (sulfonylurea treatment interaction)	1.000000e-06
GCST004071_14	Cerebrospinal T-tau levels	4.000000e-06
GCST004232_88	HDL cholesterol levels	8.000000e-10
GCST006105_9	Eye morphology	4.000000e-06
GCST006291_92	Spherical equivalent or myopia (age of diagnosis)	4.000000e-09
GCST008070_9	HDL cholesterol levels	3.000000e-06
GCST008075_118	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-14
GCST008075_71	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	5.000000e-09
GCST008084_132	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7.000000e-06
GCST008084_191	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7.000000e-16
GCST008084_86	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-09
GCST008085_176	HDL cholesterol levels in current drinkers	2.000000e-07
GCST009151_5	High density lipoprotein cholesterol levels	8.000000e-23
GCST009264_10	Thalamus volume	4.000000e-06
GCST010002_311	Refractive error	3.000000e-27
GCST010241_134	Apolipoprotein A1 levels	2.000000e-22
GCST010242_424	HDL cholesterol levels	3.000000e-22
GCST011348_18	High density lipoprotein cholesterol levels	4.000000e-08

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004207	pathological myopia
EFO:0004458	C-reactive protein measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007885	JT interval
EFO:0007922	response to sulfonylurea
EFO:0004760	t-tau measurement
EFO:0004847	age at onset
EFO:0004329	alcohol drinking
EFO:0006935	thalamus volume
EFO:0004614	apolipoprotein A 1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	7
Valproic Acid	increases expression, affects expression, decreases expression	4
(+)-JQ1 compound	decreases expression	3
Aflatoxin B1	decreases expression, decreases methylation, affects expression	3
bisphenol A	affects expression, affects cotreatment, increases methylation	2
Quercetin	decreases expression, decreases phosphorylation	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
3,19-(2-bromobenzylidene)andrographolide	decreases response to substance, increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
TL8-506	affects cotreatment, increases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	increases methylation, decreases methylation, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
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
NCT05172258	PHASE2	ACTIVE_NOT_RECRUITING	Testing the Addition of an Anti-cancer Drug, Ipatasertib, to the Usual Immunotherapy Treatment (Pembrolizumab) in Patients With Recurrent or Metastatic Squamous Cell Cancer of the Head and Neck
NCT05456022	PHASE2	UNKNOWN	Therapeutic Efficacy of Quercetin Versus Its Encapsulated Nanoparticle on Tongue Squamous Cell Carcinoma Cell Line
NCT05941338	PHASE2	RECRUITING	Tirelizumab in Combination With Carboplatin and Albumin-binding Paclitaxel for Neoadjuvant Therapy in HNSCC
NCT05980702	PHASE2	RECRUITING	4 Courses vs 2 Courses of Pembrolizumab Combined With Carboplatin and Albumin-binding Paclitaxel of Neoadjuvant Therapy in HNSCC
NCT06084845	PHASE2	WITHDRAWN	Testing the Addition of an Investigational Drug, Xevinapant, to Usual Radiation Therapy Plus Cisplatin/Carboplatin for Patients With Head and Neck Cancer
NCT06130332	PHASE2	RECRUITING	Neoadjuvant Tirellizumab Combined With Chemotherapy for Early Oral Squamous Cell Carcinoma(HNC-SYSU-004)
NCT06532279	PHASE2	RECRUITING	Testing the Addition of the Drug BMX-001, a Radioprotector, or a Placebo to the Usual Chemoradiation Therapy for Patients With Head and Neck Cancer
NCT06627270	PHASE2	RECRUITING	Antibiotic Treatment Effects on Intratumoral Bacteria Modulation in Surgical Patients With Oral Cancer