TECTB

Summary

TECTB (tectorin beta, HGNC:11721) is a protein-coding gene on chromosome 10q25.2, encoding Beta-tectorin (Q96PL2). One of the major non-collagenous components of the tectorial membrane.

This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing.

Source: NCBI Gene 6975 — RefSeq curated summary.

At a glance

• GWAS associations: 37
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_058222

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11721
Approved symbol	TECTB
Name	tectorin beta
Location	10q25.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000119913
Ensembl biotype	protein_coding
OMIM	602653
Entrez	6975

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000369422, ENST00000643850, ENST00000645243, ENST00000646139

RefSeq mRNA: 1 — MANE Select: NM_058222 NM_058222

CCDS: CCDS7571

Canonical transcript exons

ENST00000646139 — 11 exons

Exon	Start	End
ENSE00000811876	112284535	112284725
ENSE00000811877	112286071	112286213
ENSE00000811878	112286319	112286391
ENSE00000811879	112293738	112293841
ENSE00000811880	112293978	112294061
ENSE00000811881	112298069	112298231
ENSE00001450005	112303263	112305038
ENSE00003486047	112302101	112302133
ENSE00003512829	112299492	112299564
ENSE00003818049	112283400	112283496
ENSE00003818964	112283648	112283810

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 73.55.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0082 / max 7.3556, expressed in 2 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
107033	0.0082	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	73.55	gold quality
biceps brachii	UBERON:0001507	72.05	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	71.33	gold quality
esophagus squamous epithelium	UBERON:0006920	68.98	gold quality
mammary duct	UBERON:0001765	67.03	gold quality
myocardium	UBERON:0002349	65.47	gold quality
mucosa of paranasal sinus	UBERON:0005030	64.96	gold quality
vastus lateralis	UBERON:0001379	63.99	gold quality
quadriceps femoris	UBERON:0001377	63.73	gold quality
heart right ventricle	UBERON:0002080	63.11	gold quality
jejunal mucosa	UBERON:0000399	62.65	gold quality
oral cavity	UBERON:0000167	62.33	gold quality
corpus epididymis	UBERON:0004359	62.30	gold quality
cauda epididymis	UBERON:0004360	62.14	gold quality
sperm	CL:0000019	62.10	gold quality
endothelial cell	CL:0000115	61.87	gold quality
caput epididymis	UBERON:0004358	61.78	gold quality
secondary oocyte	CL:0000655	61.72	gold quality
pigmented layer of retina	UBERON:0001782	61.50	silver quality
Brodmann (1909) area 23	UBERON:0013554	61.35	gold quality
tibia	UBERON:0000979	61.34	gold quality
germinal epithelium of ovary	UBERON:0001304	60.97	gold quality
deltoid	UBERON:0001476	60.91	gold quality
superficial temporal artery	UBERON:0001614	60.54	gold quality
palpebral conjunctiva	UBERON:0001812	59.47	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	59.34	gold quality
jejunum	UBERON:0002115	58.83	gold quality
colonic mucosa	UBERON:0000317	58.70	gold quality
bronchial epithelial cell	CL:0002328	58.69	gold quality
Brodmann (1909) area 46	UBERON:0006483	58.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

90 targeting TECTB, 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-4682	100.00	68.89	1258
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-659-3P	99.85	70.69	1620

Literature-anchored findings (GeneRIF, showing 17)

• negative regulators of cell division; control of transition from G0/G1 to S phase; cell size (PMID:11686512)
• Akt/PKB directly phosphorylates Drosophila Tsc2 in vitro at the conserved residues, Ser 924 and Thr 1518. (PMID:12172554)
• the Tsc1-Tsc2 complex antagonizes the TOR-mediated response to amino acid availability (PMID:12172555)
• Tsc1 and Tsc2 function in the insulin/phosphoinositide 3-kinase (PI3K)/Akt pathway. (REVIEW) (PMID:12773160)
• Results suggest that TSC1/2 and Rheb have different effects on the activity of TORC1 and -2, further supporting the complexity of TOR regulation. (PMID:16627617)
• Inactivation of TSC2 and Rb synergistically induce oxidative stress via increased protein synthesis, inhibited de novo lipid synthesis, and decreased reactive oxygen species scavenger enzyme SOD2 induction (PMID:20478529)
• TSC1/2 prevents precocious GSC differentiation by inhibiting TORC1 activity and subsequently differentiation-promoting programs (PMID:20573703)
• TSC1/2 and Myc coordinate the growth and division of Drosophila intestinal stem cells. (PMID:21555458)
• study demonstrates that in the Drosophila lymph gland the tumor suppressors TSC and PTEN control blood progenitor proliferation through a common TOR- and 4EBP-dependent pathway (PMID:22951642)
• Tsc2 mutants showed a dramatic decrease in the levels of phosphorylated Akt, and interestingly, Akt mutants phenocopied Tsc2 mutants, leading to the hypothesis that Tsc2 and Akt might work via the same genetic pathway to regulate synapse growth. (PMID:23393158)
• deregulation of TORC1 induces activation of JNK, indicate that multiple cellular stresses are induced and contribute to the synthetic-lethal interactions between RB and TSC1/TSC2 inactivation. (PMID:23447678)
• hyperactivation of TORC1 following the loss of TSC1/2 is detrimental to stem cell maintenance and multiple lineage differentiation in the Drosophila intestinal stem cell lineage, a mechanism that could be conserved in other stem cell lineages (PMID:23843608)
• Data indicate that TORC1 activation by PVR involves Tsc1/Tsc2. (PMID:23878397)
• Results identified Ser1338 in Drosophila TSC2 as the site for AMPK phosphorylation. Its mutation diminished the function of TSC2 in suppressing mTORC1-dependent cell growth in Drosophila wing epithelium. (PMID:25826530)
• our data identify the eIF4F complex as an important upstream regulator of TORC1, which acts via TSC2 to inactivate TORC1 upon withdrawal of amino acids (PMID:26988032)
• CEACAM16 can probably form higher order structures with other tectorial membrane proteins such as alpha-tectorin and beta-tectorin and influences the physical properties of the tectorial membrane (PMID:22544735)
• Single nucleotide polymorphism in the ultraconserved elements of TECTB gene is associated with recurrence in colorectal adenocarcinoma. (PMID:22673945)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tectb	ENSDARG00000045268
mus_musculus	Tectb	ENSMUSG00000024979
rattus_norvegicus	Tectb	ENSRNOG00000015671

Paralogs (5): OIT3 (ENSG00000138315), UMOD (ENSG00000169344), GP2 (ENSG00000169347), ZPLD1 (ENSG00000170044), UMODL1 (ENSG00000177398)

Protein

Protein identifiers

Beta-tectorin — Q96PL2 (reviewed: Q96PL2)

All UniProt accessions (3): Q96PL2, A0A2R8Y6R9, A0A2R8YGB5

UniProt curated annotations — full annotation on UniProt →

Function. One of the major non-collagenous components of the tectorial membrane. The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.

Subunit / interactions. May form homomeric filament after self-association or heteromeric filament after association with alpha-tectorin. Interacts with CEACAM16.

Subcellular location. Cell membrane. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical surface of the inner ear epithelia by the lipid and proteolytically released into the extracellular compartment.

Domain organisation. Zona pellucida domain may enable to form filaments.

RefSeq proteins (1): NP_478129* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001507	ZP_dom	Domain
IPR017977	ZP_dom_CS	Conserved_site
IPR042235	ZP-C_dom	Homologous_superfamily
IPR048290	ZP_chr	Domain
IPR055355	ZP-C	Domain

Pfam: PF00100

UniProt features (10 total): glycosylation site 4, signal peptide 1, chain 1, propeptide 1, domain 1, lipid moiety-binding region 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PL2-F1	68.33	0.17

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 (1): 305

Disulfide bonds (1): 204–264

Glycosylation sites (4): 80, 104, 116, 145

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 60 (showing top): GOCC_CELL_SURFACE, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, MCCLUNG_COCAIN_REWARD_4WK, chr10q25, GOCC_SIDE_OF_MEMBRANE, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, REACTOME_POST_TRANSLATIONAL_MODIFICATION_SYNTHESIS_OF_GPI_ANCHORED_PROTEINS, MYC_UP.V1_UP, CAHOY_ASTROCYTIC, GOCC_EXTERNAL_ENCAPSULATING_STRUCTURE, NABA_ECM_GLYCOPROTEINS, MIR607, MIR182_5P, MIR3910

GO Biological Process (0):

GO Molecular Function (1): extracellular matrix structural constituent (GO:0005201)

GO Cellular Component (8): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), cell surface (GO:0009986), extracellular matrix (GO:0031012), side of membrane (GO:0098552), membrane (GO:0016020), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
membrane	2
structural molecule activity	1
extracellular matrix	1
cell periphery	1
external encapsulating structure	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

596 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TECTB	OTOG	Q6ZRI0	974
TECTB	OTOA	Q7RTW8	925
TECTB	ZAN	Q9Y493	922
TECTB	COCH	O43405	902
TECTB	CEACAM16	Q2WEN9	858
TECTB	NID1	P14543	742
TECTB	OTOGL	Q3ZCN5	715
TECTB	TECTA	O75443	695
TECTB	OTOL1	A6NHN0	682
TECTB	CALB1	P05937	666
TECTB	STRC	Q7RTU9	625
TECTB	KCNQ4	P56696	595
TECTB	VWF	P04275	566
TECTB	E9PNW1	E9PNW1	544
TECTB	CHRNA10	Q9GZZ6	543
TECTB	BRICD5	Q6PL45	543

IntAct

3 interactions, top by confidence:

A	B	Type	Score
TECTB	MAT1A	psi-mi:“MI:0915”(physical association)	0.400
TECTB	NDUFA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (36): MAT1A (Affinity Capture-MS), NOL11 (Affinity Capture-MS), SUPT16H (Affinity Capture-MS), NOC2L (Affinity Capture-MS), TOMM40 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), PTRH2 (Affinity Capture-MS), ACIN1 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), NOC4L (Affinity Capture-MS), IDH2 (Affinity Capture-MS), WDR36 (Affinity Capture-MS), SSRP1 (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), TBL3 (Affinity Capture-MS)

ESM2 similar proteins: A0A131MBU3, B3A0R6, B3A0S3, D9PTN5, G5ECX0, G5EDW5, G5EF33, H2A0L2, H2A0L3, H2A0L8, H2KZU7, M9PE65, O55159, O70417, P16422, P17554, P34393, P35443, P41950, P45442, P49744, P54097, P86785, P86861, P86953, P86954, P86956, Q02413, Q03763, Q06441, Q09276, Q09553, Q1L8P7, Q1WER1, Q20911, Q3BDI7, Q3SWW8, Q3T0L5, Q5F381, Q61495

Diamond homologs: O08524, P54097, Q12836, Q5DID0, Q5DID3, Q96PL2, Q9BH11, Q9D733, O08523, O75443, P07911, P19218, P25291, P27590, P48733, P55259, Q5R5C1, Q6DFV8, Q862Z3, Q8N2E2, Q8R4V5, Q91X17, Q9YH85, Q8CH34, I6M4H4, O54766, O54767, O77726, P20239, P42099, P47983, P47984, P48829, P48834, P60852, Q00193, Q05996, Q07287, Q62005, Q9BH10

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1313 predictions. Top by Δscore:

Variant	Effect	Δscore
10:112283807:GCAG:G	donor_gain	1.0000
10:112283809:AGGTA:A	donor_loss	1.0000
10:112283812:T:A	donor_loss	1.0000
10:112284417:G:T	donor_gain	1.0000
10:112284655:G:GT	donor_gain	1.0000
10:112286066:TCCA:T	acceptor_loss	1.0000
10:112286067:CCAGT:C	acceptor_loss	1.0000
10:112286069:A:AG	acceptor_gain	1.0000
10:112286070:G:GT	acceptor_gain	1.0000
10:112286070:GT:G	acceptor_gain	1.0000
10:112286070:GTA:G	acceptor_gain	1.0000
10:112286070:GTAC:G	acceptor_gain	1.0000
10:112286070:GTACA:G	acceptor_gain	1.0000
10:112286210:AGAGG:A	donor_loss	1.0000
10:112286211:GAG:G	donor_gain	1.0000
10:112286213:GGTA:G	donor_loss	1.0000
10:112286214:G:GG	donor_gain	1.0000
10:112286214:GT:G	donor_loss	1.0000
10:112286313:TTTCA:T	acceptor_loss	1.0000
10:112286314:TTCA:T	acceptor_loss	1.0000
10:112286315:TCA:T	acceptor_loss	1.0000
10:112286316:CA:C	acceptor_loss	1.0000
10:112286317:A:AG	acceptor_gain	1.0000
10:112286317:AGAGT:A	acceptor_gain	1.0000
10:112286318:G:GA	acceptor_gain	1.0000
10:112286318:GA:G	acceptor_gain	1.0000
10:112286318:GAGT:G	acceptor_gain	1.0000
10:112286318:GAGTG:G	acceptor_gain	1.0000
10:112286388:CACT:C	donor_gain	1.0000
10:112286389:ACT:A	donor_gain	1.0000

AlphaMissense

2168 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:112284552:T:A	C32S	1.000
10:112284552:T:C	C32R	1.000
10:112284553:G:A	C32Y	1.000
10:112284553:G:C	C32S	1.000
10:112284554:C:G	C32W	1.000
10:112284602:G:C	W48C	1.000
10:112284602:G:T	W48C	1.000
10:112284616:T:C	L53P	1.000
10:112284670:T:G	F71C	1.000
10:112284708:T:A	C84S	1.000
10:112284709:G:C	C84S	1.000
10:112286164:T:A	C121S	1.000
10:112286164:T:C	C121R	1.000
10:112286165:G:A	C121Y	1.000
10:112286165:G:C	C121S	1.000
10:112286165:G:T	C121F	1.000
10:112286166:C:G	C121W	1.000
10:112286360:T:G	F151C	1.000
10:112294000:T:C	C204R	1.000
10:112294001:G:A	C204Y	1.000
10:112294002:T:G	C204W	1.000
10:112298128:T:C	F244S	1.000
10:112298143:T:G	F249C	1.000
10:112298149:T:C	F251S	1.000
10:112298149:T:G	F251C	1.000
10:112298187:T:C	C264R	1.000
10:112298188:G:A	C264Y	1.000
10:112298189:T:G	C264W	1.000
10:112284553:G:T	C32F	0.999
10:112284588:T:A	C44S	0.999

dbSNP variants (sampled 300 via entrez): RS1000106690 (10:112286368 C>T), RS1000319892 (10:112291685 C>A), RS1000357040 (10:112282755 G>A), RS1000381436 (10:112297088 T>C), RS1000411626 (10:112283055 T>A), RS1000477306 (10:112296322 C>A,T), RS1000585816 (10:112290564 T>C), RS1000649418 (10:112291986 A>C,T), RS1000694407 (10:112284118 C>T), RS1000702123 (10:112301569 C>T), RS1000716964 (10:112296069 A>G), RS1000771267 (10:112302839 G>C,T), RS1001060967 (10:112290360 G>A,T), RS1001135674 (10:112301310 G>A), RS1001226180 (10:112285365 T>C)

Disease associations

OMIM: gene MIM:602653 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

37 associations (top):

Study	Trait	p-value
GCST005998_22	Alanine transaminase levels	2.000000e-09
GCST006005_7	High density lipoprotein cholesterol levels	8.000000e-13
GCST006016_18	Serum alkaline phosphatase levels	2.000000e-10
GCST006034_41	Total cholesterol levels	6.000000e-10
GCST008070_132	HDL cholesterol levels	9.000000e-07
GCST008070_60	HDL cholesterol levels	1.000000e-16
GCST008070_93	HDL cholesterol levels	1.000000e-07
GCST008074_147	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9.000000e-12
GCST008074_16	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	7.000000e-06
GCST008074_52	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-07
GCST008075_168	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3.000000e-27
GCST008075_222	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-07
GCST008075_42	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-15
GCST008077_88	LDL cholesterol levels	6.000000e-06
GCST008078_110	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	7.000000e-13
GCST008078_37	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-08
GCST008079_157	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7.000000e-14
GCST008079_60	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7.000000e-10
GCST008083_116	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-11
GCST008083_22	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6.000000e-08
GCST008083_35	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5.000000e-06
GCST008084_121	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5.000000e-08
GCST008084_208	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-32
GCST008084_48	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-18
GCST008085_1	HDL cholesterol levels in current drinkers	3.000000e-07
GCST008085_147	HDL cholesterol levels in current drinkers	5.000000e-11
GCST008085_59	HDL cholesterol levels in current drinkers	2.000000e-19
GCST008086_68	LDL cholesterol levels in current drinkers	2.000000e-09
GCST008087_5	Triglyceride levels in current drinkers	4.000000e-06
GCST009391_816	Metabolite levels	4.000000e-06

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0004574	total cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0010397	sphingomyelin 24:0 measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Rotenone	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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