SAMD4A

Summary

SAMD4A (sterile alpha motif domain containing 4A, HGNC:23023) is a protein-coding gene on chromosome 14q22.2, encoding Protein Smaug homolog 1 (Q9UPU9). Acts as a translational repressor of SRE-containing messengers.

Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).

Source: NCBI Gene 23034 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 60 total — 1 pathogenic
• MANE Select transcript: NM_015589

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23023
Approved symbol	SAMD4A
Name	sterile alpha motif domain containing 4A
Location	14q22.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1
Ensembl gene	ENSG00000020577
Ensembl biotype	protein_coding
OMIM	610747
Entrez	23034

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding_CDS_not_defined, 6 protein_coding, 2 retained_intron

ENST00000251091, ENST00000392067, ENST00000553988, ENST00000554335, ENST00000554587, ENST00000555091, ENST00000555112, ENST00000555192, ENST00000555719, ENST00000556069, ENST00000557013, ENST00000557692, ENST00000673751, ENST00000673833, ENST00000954346, ENST00000954347

RefSeq mRNA: 3 — MANE Select: NM_015589 NM_001161576, NM_001161577, NM_015589

CCDS: CCDS32084, CCDS55917, CCDS55918

Canonical transcript exons

ENST00000554335 — 13 exons

Exon	Start	End
ENSE00001405746	54737024	54737287
ENSE00002476637	54567496	54568112
ENSE00002529765	54567128	54567338
ENSE00003300613	54748815	54748924
ENSE00003316915	54764455	54764540
ENSE00003350376	54774934	54775135
ENSE00003391068	54751451	54751537
ENSE00003391611	54770104	54770222
ENSE00003564370	54702062	54702580
ENSE00003575882	54784537	54784620
ENSE00003611723	54776414	54776540
ENSE00003692221	54760161	54760494
ENSE00003897140	54788916	54793312

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.3314 / max 479.6541, expressed in 1733 samples.

FANTOM5 promoters (20 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139642	21.5011	1702
139643	4.1882	1430
139673	0.2514	39
139654	0.2416	103
139646	0.2404	108
139645	0.1682	48
139668	0.1091	15
139644	0.1084	33
139671	0.0964	40
139667	0.0889	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.15	gold quality
inferior olivary complex	UBERON:0002127	98.89	gold quality
heart right ventricle	UBERON:0002080	98.86	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.80	gold quality
biceps brachii	UBERON:0001507	98.69	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.68	gold quality
gluteal muscle	UBERON:0002000	98.57	gold quality
left ventricle myocardium	UBERON:0006566	98.47	gold quality
myocardium	UBERON:0002349	98.26	gold quality
left testis	UBERON:0004533	98.14	gold quality
cauda epididymis	UBERON:0004360	98.09	gold quality
right testis	UBERON:0004534	97.94	gold quality
vastus lateralis	UBERON:0001379	97.92	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.90	gold quality
skeletal muscle tissue	UBERON:0001134	97.88	gold quality
saphenous vein	UBERON:0007318	97.83	gold quality
medulla oblongata	UBERON:0001896	97.73	gold quality
cartilage tissue	UBERON:0002418	97.72	gold quality
quadriceps femoris	UBERON:0001377	97.68	gold quality
tibia	UBERON:0000979	97.22	gold quality
triceps brachii	UBERON:0001509	97.02	gold quality
deltoid	UBERON:0001476	97.01	gold quality
inferior vagus X ganglion	UBERON:0005363	96.87	gold quality
muscle tissue	UBERON:0002385	96.81	gold quality
sperm	CL:0000019	96.80	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.78	gold quality
spinal cord	UBERON:0002240	96.70	gold quality
superior vestibular nucleus	UBERON:0007227	96.68	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.43	gold quality
diaphragm	UBERON:0001103	96.42	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.32
E-CURD-119	yes	10.94

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SRF

miRNA regulators (miRDB)

198 targeting SAMD4A, 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-8485	100.00	77.57	4731
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3163	100.00	77.23	8605
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-656-3P	100.00	72.15	2788
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-616-5P	99.98	75.58	4775
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593

Literature-anchored findings (GeneRIF, showing 7)

• Smaug 1 has a role in RNA granule formation and translation regulation in neurons (PMID:16221671)
• The Smaug1 is expressed during synaptogenesis, and Smaug1 knockdown affected the number and size of synapses, and also provoked an impaired response to repetitive depolarizing stimuli, as indicated by a reduced induction of Arc/Arg3.1. (PMID:22201125)
• Circular RNA SAMD4A controls adipogenesis in obesity through the miR-138-5p/EZH2 axis. (PMID:32292524)
• circSAMD4A participates in the apoptosis and autophagy of dopaminergic neurons via the miR29c3pmediated AMPK/mTOR pathway in Parkinson’s disease. (PMID:34080649)
• RNA-binding protein SAMD4A inhibits breast tumor angiogenesis by modulating the balance of angiogenesis program. (PMID:34219323)
• SAMD4A serves as a negative prognostic marker for gastric cancer patients. (PMID:37515967)
• Structural basis for binding of Drosophila Smaug to the GPCR Smoothened and to the germline inducer Oskar. (PMID:37523566)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	samd4a	ENSDARG00000075759
mus_musculus	Samd4	ENSMUSG00000021838
rattus_norvegicus	Samd4a	ENSRNOG00000010489
drosophila_melanogaster	smg	FBGN0016070
caenorhabditis_elegans		WBGENE00022538

Paralogs (1): SAMD4B (ENSG00000179134)

Protein

Protein identifiers

Protein Smaug homolog 1 — Q9UPU9 (reviewed: Q9UPU9)

Alternative names: Sterile alpha motif domain-containing protein 4A

All UniProt accessions (2): Q9UPU9, G3V2R1

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a translational repressor of SRE-containing messengers.

Subcellular location. Cytoplasm. Cell projection. Dendrite. Synapse. Synaptosome.

Similarity. Belongs to the SMAUG family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UPU9-1	1	yes
Q9UPU9-2	2
Q9UPU9-3	3

RefSeq proteins (3): NP_001155048, NP_001155049, NP_056404* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR037093	PHAT_dom_sf	Homologous_superfamily
IPR037634	Smaug_SAM	Domain
IPR050897	SMAUG/VTS1_RNA-bind	Family
IPR057327	Vts1_dom	Domain
IPR058599	PHAT_Smg/ZCCHC2-like	Domain

Pfam: PF00536, PF25479, PF26034

UniProt features (26 total): helix 11, modified residue 5, region of interest 3, splice variant 2, sequence conflict 2, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8OIK	X-RAY DIFFRACTION	1.62

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPU9-F1	63.58	0.31

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 (5): 580, 168, 420, 424, 573

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 271 (showing top): GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, DAUER_STAT3_TARGETS_UP, ONKEN_UVEAL_MELANOMA_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (5): nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289), positive regulation of translation (GO:0045727), regulation of translation (GO:0006417), negative regulation of translation (GO:0017148), regulation of mRNA stability (GO:0043488)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), translation repressor activity (GO:0030371), protein binding (GO:0005515)

GO Cellular Component (9): P-body (GO:0000932), fibrillar center (GO:0001650), cytosol (GO:0005829), cell junction (GO:0030054), dendrite (GO:0030425), synapse (GO:0045202), cytoplasm (GO:0005737), cell projection (GO:0042995), neuron projection (GO:0043005)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
translation	3
regulation of translation	2
nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	1
nuclear-transcribed mRNA catabolic process	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
negative regulation of gene expression	1
negative regulation of protein metabolic process	1
regulation of RNA stability	1
regulation of mRNA catabolic process	1
nucleic acid binding	1
RNA binding	1
negative regulation of translation	1
translation regulator activity	1
binding	1
cytoplasmic ribonucleoprotein granule	1
nucleolus	1
cytoplasm	1
neuron projection	1
dendritic tree	1
cell junction	1
intracellular anatomical structure	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

946 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAMD4A	STAU1	O95793	835
SAMD4A	TIAL1	Q01085	809
SAMD4A	TIA1	P31483	795
SAMD4A	SARM1	Q6SZW1	663
SAMD4A	ELAVL1	Q15717	648
SAMD4A	SMAD2	Q15796	582
SAMD4A	CCDC70	Q6NSX1	569
SAMD4A	SMAD3	P84022	568
SAMD4A	FUS	P35637	493
SAMD4A	FMR1	Q06787	491
SAMD4A	SMAD6	O43541	482
SAMD4A	TNFAIP2	Q03169	448
SAMD4A	PRICKLE2	Q7Z3G6	447
SAMD4A	SMAD4	Q13485	445
SAMD4A	ZNF628	Q5EBL2	443

IntAct

45 interactions, top by confidence:

A	B	Type	Score
SAMD4B	YWHAQ	psi-mi:“MI:0914”(association)	0.850
SAMD4A	YWHAG	psi-mi:“MI:0915”(physical association)	0.830
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
FAM120A	SYNCRIP	psi-mi:“MI:0914”(association)	0.640
SFN	SAMD4A	psi-mi:“MI:0915”(physical association)	0.630
SAMD4A	SFN	psi-mi:“MI:0915”(physical association)	0.630
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
SAMD4A	YWHAE	psi-mi:“MI:0915”(physical association)	0.600
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
SAMD4A	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	SAMD4A	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	SAMD4A	psi-mi:“MI:0915”(physical association)	0.560
SAMD4A	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
LRFN4	RIMOC1	psi-mi:“MI:0914”(association)	0.530
LIN28B	ELAVL2	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
SAMD4A	INPPL1	psi-mi:“MI:2364”(proximity)	0.480
SAMD4A	INPPL1	psi-mi:“MI:0914”(association)	0.480
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (87): SAMD4A (Two-hybrid), NUTM1 (Two-hybrid), SAMD4A (Affinity Capture-MS), SAMD4A (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), TNIP1 (Affinity Capture-MS), YWHAZ (Affinity Capture-MS), YWHAE (Affinity Capture-MS), YWHAB (Affinity Capture-MS), DDB2 (Affinity Capture-MS), YWHAH (Affinity Capture-MS), CSDE1 (Affinity Capture-MS), YWHAG (Affinity Capture-MS), GAN (Affinity Capture-MS), PDP1 (Affinity Capture-MS)

ESM2 similar proteins: A0M8S4, A1L0Z0, B5DEB9, B5DF21, F5HSE3, O95155, P97496, Q07DX4, Q07DY4, Q07E41, Q0IHW3, Q108T9, Q15648, Q172G3, Q1LUT1, Q1LVF3, Q26622, Q2IBA2, Q2IBE6, Q2IBF7, Q2QLB3, Q2QLF8, Q32N92, Q3YBR2, Q5FWP2, Q5PRF9, Q5RES4, Q6DD45, Q6INP8, Q6IRB8, Q6IZA3, Q6P4L9, Q6P4R8, Q6PIJ4, Q7ZXT3, Q80TZ3, Q80XS6, Q8CBY1, Q8INR6, Q8MX88

Diamond homologs: B3NFQ7, B4HKJ7, B4QMP1, B5DF21, P60320, Q0IHW3, Q23972, Q4P965, Q4WJS2, Q5BGC4, Q5FWP2, Q5PRF9, Q6CHK0, Q758Y4, Q7RZQ3, Q80XS6, Q8CBY1, Q95LV5, Q9UPU9, Q4IBN1, Q9P6R7, J9VVN9, Q08831, Q5AI80, Q6BSL1, Q6CY29, Q6FM94

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 31 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
Activation of BAD and translocation to mitochondria	6	268.7×	1e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	237.1×	2e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	237.1×	2e-12
Activation of BH3-only proteins	6	175.2×	1e-11
RHO GTPases activate PKNs	6	112.0×	2e-10
Intrinsic Pathway for Apoptosis	6	103.3×	2e-10
SARS-CoV-1-host interactions	6	62.0×	5e-09
Apoptosis	6	59.3×	6e-09

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	6	25.1×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	34
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1455396	NC_000014.8:g.(?54416750)(55369403_?)del	Pathogenic

SpliceAI

3207 predictions. Top by Δscore:

Variant	Effect	Δscore
14:54567257:G:GT	donor_gain	1.0000
14:54567286:G:GT	donor_gain	1.0000
14:54567286:G:T	donor_gain	1.0000
14:54567812:G:GT	donor_gain	1.0000
14:54567813:A:T	donor_gain	1.0000
14:54568109:CCCGG:C	donor_loss	1.0000
14:54568110:CCG:C	donor_gain	1.0000
14:54568110:CCGGT:C	donor_loss	1.0000
14:54568111:CGGT:C	donor_loss	1.0000
14:54568113:G:GG	donor_gain	1.0000
14:54568113:G:T	donor_loss	1.0000
14:54568114:T:A	donor_loss	1.0000
14:54702060:A:AG	acceptor_gain	1.0000
14:54702061:G:GG	acceptor_gain	1.0000
14:54702061:GGA:G	acceptor_gain	1.0000
14:54702061:GGAAT:G	acceptor_gain	1.0000
14:54709972:T:TA	acceptor_gain	1.0000
14:54748791:T:G	acceptor_gain	1.0000
14:54748799:A:AG	acceptor_gain	1.0000
14:54748800:C:G	acceptor_gain	1.0000
14:54748922:CAGG:C	donor_loss	1.0000
14:54748926:T:G	donor_loss	1.0000
14:54751449:A:AC	acceptor_loss	1.0000
14:54751450:GAAT:G	acceptor_gain	1.0000
14:54751536:GG:G	donor_gain	1.0000
14:54751537:GG:G	donor_gain	1.0000
14:54764450:TACA:T	acceptor_loss	1.0000
14:54764453:A:C	acceptor_loss	1.0000
14:54764454:G:GT	acceptor_loss	1.0000
14:54764454:GTGT:G	acceptor_gain	1.0000

AlphaMissense

4703 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:54567923:T:C	F3L	1.000
14:54567925:T:A	F3L	1.000
14:54567925:T:G	F3L	1.000
14:54567965:T:A	W17R	1.000
14:54567965:T:C	W17R	1.000
14:54567987:T:A	V24D	1.000
14:54567993:T:C	L26P	1.000
14:54568002:T:C	L29P	1.000
14:54568035:T:C	F40S	1.000
14:54568038:T:C	L41P	1.000
14:54568050:T:C	L45P	1.000
14:54702113:T:C	L83P	1.000
14:54702125:T:C	L87P	1.000
14:54702134:T:C	L90P	1.000
14:54702166:T:C	Y101H	1.000
14:54702166:T:G	Y101D	1.000
14:54702191:T:C	L109P	1.000
14:54702229:A:C	S122R	1.000
14:54702231:C:A	S122R	1.000
14:54702231:C:G	S122R	1.000
14:54702239:T:C	L125P	1.000
14:54702242:T:A	L126Q	1.000
14:54702242:T:C	L126P	1.000
14:54702250:G:C	A129P	1.000
14:54702251:C:A	A129D	1.000
14:54702257:T:A	I131K	1.000
14:54702259:C:G	H132D	1.000
14:54702260:A:G	H132R	1.000
14:54702261:T:A	H132Q	1.000
14:54702261:T:G	H132Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000018759 (14:54695073 C>T), RS1000043985 (14:54578226 G>A), RS1000046309 (14:54580984 T>C), RS1000048851 (14:54735111 C>T), RS1000049041 (14:54737955 C>T), RS1000049922 (14:54654442 G>C), RS1000054803 (14:54686643 A>G), RS1000065278 (14:54686392 A>G,T), RS1000080803 (14:54773248 C>A,G,T), RS1000086873 (14:54604669 C>T), RS1000088827 (14:54605559 G>A,C), RS1000089261 (14:54734820 C>G), RS1000099235 (14:54648045 A>T), RS1000100957 (14:54647871 T>C), RS1000188991 (14:54611166 A>T)

Disease associations

OMIM: gene MIM:610747 | disease phenotypes: MIM:600625, MIM:607932

GenCC curated gene-disease

Mondo (3): orofacial cleft 11 (MONDO:0010906), microphthalmia with brain and digit anomalies (MONDO:0011936), lip and oral cavity carcinoma (MONDO:0023644)

Orphanet (1): Microphthalmia with brain and digit anomalies (Orphanet:139471)

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001762_80	Obesity-related traits	3.000000e-06
GCST003542_167	Night sleep phenotypes	2.000000e-06
GCST004526_3	Subclinical trait of interstitial lung disease (basilar percentage of high attenuation areas on CT scan)	3.000000e-08
GCST004607_95	Plateletcrit	3.000000e-09
GCST005235_11	Hand grip strength	4.000000e-06
GCST006014_23	Creatine kinase levels	5.000000e-23
GCST006135_13	Cortical amyloid beta load	6.000000e-06
GCST006135_3	Cortical amyloid beta load	5.000000e-06
GCST006135_4	Cortical amyloid beta load	4.000000e-07
GCST006135_6	Cortical amyloid beta load	4.000000e-06
GCST006629_101	Pulse pressure	3.000000e-09
GCST008529_29	Tea consumption	4.000000e-06
GCST008839_490	Height	1.000000e-13
GCST012226_355	Waist circumference adjusted for body mass index	3.000000e-09
GCST90011899_80	Aspartate aminotransferase levels	4.000000e-16

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0007627	airway imaging measurement
EFO:0007985	platelet crit
EFO:0006941	grip strength measurement
EFO:0004534	creatine kinase measurement
EFO:0007707	cerebral amyloid deposition measurement
EFO:0005763	pulse pressure measurement
EFO:0010091	tea consumption measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566440	Microphthalmia, Syndromic 6 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Benzo(a)pyrene	increases mutagenesis, affects methylation, decreases expression, decreases methylation, increases expression	6
methylmercuric chloride	increases expression, affects cotreatment	4
trichostatin A	affects cotreatment, increases expression	3
Tetrachlorodibenzodioxin	increases expression	3
Cyclosporine	increases methylation, decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Acetaminophen	increases expression	2
Arsenic	increases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Cadmium Chloride	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	increases methylation	1
sodium arsenate	increases abundance, increases expression	1
arsenite	decreases methylation	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
aflatoxin B2	increases methylation	1
coumarin	decreases phosphorylation	1
resorcinol	decreases expression	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