MUC3A

Summary

MUC3A (mucin 3A, cell surface associated, HGNC:7513) is a protein-coding gene on chromosome 7q22.1, encoding Mucin-3A (Q02505). Major glycoprotein component of a variety of mucus gels.

The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).

Source: NCBI Gene 4584 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_005960

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7513
Approved symbol	MUC3A
Name	mucin 3A, cell surface associated
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169894
Ensembl biotype	protein_coding
OMIM	158371
Entrez	4584

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000379458, ENST00000414964, ENST00000483366, ENST00000614399, ENST00000868576, ENST00000868577

RefSeq mRNA: 1 — MANE Select: NM_005960 NM_005960

CCDS: CCDS78262

Canonical transcript exons

ENST00000379458 — 12 exons

Exon	Start	End
ENSE00001760877	100960752	100960937
ENSE00001929464	100949534	100949685
ENSE00003711593	100965704	100965866
ENSE00003716124	100967121	100968347
ENSE00003719447	100963688	100963752
ENSE00003723982	100966652	100966743
ENSE00003724059	100966899	100966951
ENSE00003728907	100964695	100964843
ENSE00003733255	100951841	100960645
ENSE00003738026	100965282	100965347
ENSE00003744147	100963151	100963266
ENSE00003751188	100966386	100966559

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 96.60.

FANTOM5 (CAGE): breadth broad, TPM avg 5.7427 / max 1307.2482, expressed in 494 samples.

FANTOM5 promoters (54 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80073	1.6035	92
204606	0.5665	196
204603	0.4591	157
204598	0.3799	62
80069	0.2763	64
80072	0.1751	27
204590	0.1583	40
204605	0.1506	77
204604	0.1356	56
204585	0.1332	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.60	gold quality
rectum	UBERON:0001052	96.18	gold quality
pancreatic ductal cell	CL:0002079	95.07	silver quality
ileal mucosa	UBERON:0000331	94.90	gold quality
jejunal mucosa	UBERON:0000399	94.64	gold quality
duodenum	UBERON:0002114	93.02	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.58	gold quality
small intestine	UBERON:0002108	91.49	gold quality
cervix squamous epithelium	UBERON:0006922	91.30	silver quality
type B pancreatic cell	CL:0000169	90.57	gold quality
gall bladder	UBERON:0002110	90.27	gold quality
colonic mucosa	UBERON:0000317	89.51	gold quality
transverse colon	UBERON:0001157	89.03	gold quality
olfactory bulb	UBERON:0002264	88.85	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.56	gold quality
colonic epithelium	UBERON:0000397	88.29	gold quality
tongue squamous epithelium	UBERON:0006919	88.01	silver quality
parotid gland	UBERON:0001831	87.41	gold quality
right lobe of liver	UBERON:0001114	87.20	gold quality
prostate gland	UBERON:0002367	86.35	gold quality
apex of heart	UBERON:0002098	85.65	gold quality
triceps brachii	UBERON:0001509	85.05	gold quality
epithelial cell of pancreas	CL:0000083	84.65	gold quality
oocyte	CL:0000023	84.15	gold quality
cervix epithelium	UBERON:0004801	84.03	silver quality
gluteal muscle	UBERON:0002000	83.93	gold quality
jejunum	UBERON:0002115	83.74	gold quality
intestine	UBERON:0000160	83.22	gold quality
heart right ventricle	UBERON:0002080	83.04	gold quality
diaphragm	UBERON:0001103	82.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	1592.48
E-GEOD-110499	yes	456.07
E-ANND-3	yes	21.79

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HIF1A

miRNA regulators (miRDB)

58 targeting MUC3A, 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-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053

Literature-anchored findings (GeneRIF, showing 15)

• has highly conserved amino and carboxyl termini, suggesting a recent duplication of the entire ancestral gene (PMID:12958310)
• MUC3 is overexpressed in renal clear cell carcinoma, and the MUC3 expression ratio is greater in nuclear grade 3 than in grades 1 and 2 (low grades) tumor. These findings suggest the implication of MUC3 in renal carcinogenesis. (PMID:14550470)
• up-regulated MUC expression by synovial tissue cells and suggest a novel role of MUC3 and MUC5AC in the pathogenesis of arthritis (PMID:18163520)
• We report the colonic adhesion mechanism of Lactobaillus plantarums LA318 is in part due to GAPDH binding to human ABO-type blood group antigens expressed on human colonic mucin (HCM). [HCM] (PMID:18790050)
• These mucin genes were up-regulated after exposure to low pH in vitro (p < 0.005). Pepsin inhibited this up-regulation (p <0.001). Reflux laryngitis is associated with down-regulation of mucin gene expression. (PMID:18834073)
• Data show that the diagnostic sensitivity for mucin was 60%, and the specificity for mucin was 100%. (PMID:19365834)
• Data show that special stains for mucin did not distinguish pseudocysts from neoplastic mucinous cysts. (PMID:19365837)
• DNA hypomethylation in the 5’-flanking region of the MUC3A gene plays an important role in MUC3A expression in carcinomas of various organs. (PMID:20510874)
• MUC3A may have a role in poor prognosis in localized clear-cell renal cell carcinoma (PMID:27374181)
• inspection showed that MSLN (Mesothelin), ANTXR1 (TEM8), and MUC3A are the probable targets of CAR T cell therapy in gastric adenocarcinoma. (PMID:30260046)
• KIAA1429 promotes the progression of lung adenocarcinoma by regulating the m6A level of MUC3A. (PMID:33249400)
• MUC3A induces PD-L1 and reduces tyrosine kinase inhibitors effects in EGFR-mutant non-small cell lung cancer. (PMID:33994852)
• MUC3A promotes non-small cell lung cancer progression via activating the NFkappaB pathway and attenuates radiosensitivity. (PMID:34326691)
• MUC3A promotes the progression of colorectal cancer through the PI3K/Akt/mTOR pathway. (PMID:35655161)
• Decoding the expression pattern of MUC3A in gastric adenocarcinoma: unveiling the key to successful immunotherapy. (PMID:38069509)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Muc3a	ENSMUSG00000094840
rattus_norvegicus	Muc3l1	ENSRNOG00000068186

Paralogs (2): MUC17 (ENSG00000169876), MUC13 (ENSG00000173702)

Protein

Protein identifiers

Mucin-3A — Q02505 (reviewed: Q02505)

Alternative names: Intestinal mucin-3A

All UniProt accessions (2): Q02505, A0A182DWF7

UniProt curated annotations — full annotation on UniProt →

Function. Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling.

Subcellular location. Membrane Secreted Secreted Secreted Secreted.

Tissue specificity. Broad specificity; small intestine, colon, colonic tumors, heart, liver, thymus, prostate, pancreas and gall bladder.

Post-translational modifications. Highly O-glycosylated and probably also N-glycosylated.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (5)

UniProt ID	Names	Canonical?
Q02505-1	1	yes
Q02505-2	2
Q02505-3	3
Q02505-4	4
Q02505-5	5

RefSeq proteins (1): NP_005951* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000082	SEA_dom	Domain
IPR000742	EGF	Domain
IPR002049	LE_dom	Domain
IPR036364	SEA_dom_sf	Homologous_superfamily
IPR052504	Mucin_signaling_protection	Family

UniProt features (114 total): repeat 32, sequence conflict 23, region of interest 22, compositionally biased region 20, splice variant 7, sequence variant 3, domain 2, disulfide bond 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q02505 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Disulfide bonds (2): 2980–2986, 2999–3008

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-5083625	Defective GALNT3 causes HFTC
R-HSA-5083632	Defective C1GALT1C1 causes TNPS
R-HSA-5083636	Defective GALNT12 causes CRCS1
R-HSA-5621480	Dectin-2 family
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-977068	Termination of O-glycan biosynthesis
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5621481	C-type lectin receptors (CLRs)
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 60 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, XU_GH1_AUTOCRINE_TARGETS_DN, XU_GH1_EXOGENOUS_TARGETS_DN, GOCC_GOLGI_LUMEN, VECCHI_GASTRIC_CANCER_EARLY_UP, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, GCNP_SHH_UP_LATE.V1_DN, REACTOME_DISEASES_OF_GLYCOSYLATION, REACTOME_DISEASES_ASSOCIATED_WITH_O_GLYCOSYLATION_OF_PROTEINS, REACTOME_DEFECTIVE_GALNT3_CAUSES_HFTC, REACTOME_DEFECTIVE_C1GALT1C1_CAUSES_TNPS

GO Biological Process (0):

GO Molecular Function (2): extracellular matrix structural constituent (GO:0005201), extracellular matrix constituent, lubricant activity (GO:0030197)

GO Cellular Component (5): extracellular region (GO:0005576), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), membrane (GO:0016020), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	3
C-type lectin receptors (CLRs)	1
O-linked glycosylation	1
O-linked glycosylation of mucins	1
Immune System	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Innate Immune System	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
structural molecule activity	1
extracellular matrix	1
extracellular matrix structural constituent	1
Golgi apparatus	1
intracellular organelle lumen	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

748 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUC3A	MUC15	Q8N387	852
MUC3A	MUC20	Q8N307	847
MUC3A	MUC16	Q8WXI7	839
MUC3A	MUC13	Q9H3R2	823
MUC3A	MUC7	Q8TAX7	820
MUC3A	MUC5B	Q9HC84	809
MUC3A	MUC2	Q02817	803
MUC3A	MUC1	P13931	755
MUC3A	MUC21	Q5SSG8	728
MUC3A	MUC19	Q7Z5P9	728
MUC3A	MUC6	Q6W4X9	720
MUC3A	GALNT13	Q8IUC8	719
MUC3A	KPNA7	A9QM74	712
MUC3A	MUC5AC	P98088	665
MUC3A	IL1F10	Q8WWZ1	659

IntAct

117 interactions, top by confidence:

A	B	Type	Score
MUC3A	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
SNX27	MUC3A	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
TAX1BP3	MUC3A	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	MUC3A	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	SIPA1L2	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	APBA2	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	AHNAK	psi-mi:“MI:0407”(direct interaction)	0.440
MUC3A	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440

ESM2 similar proteins: A0A0U1RQI7, A0A494C071, A6QL64, A6ZXT5, A7XUY5, E2RYF6, E2RYF7, O60732, O88799, P06916, P12021, P18583, P41809, P43537, P47179, P53353, Q00130, Q02496, Q02505, Q04893, Q05049, Q12459, Q14242, Q32KG4, Q4ZJY7, Q4ZJZ0, Q54QZ8, Q5H9R4, Q5H9T9, Q5JPF3, Q5SSG8, Q5XHX6, Q60528, Q63661, Q685J3, Q6P902, Q86VQ3, Q8JZM8, Q8N307, Q8NET4

Diamond homologs: Q02505, Q9H195

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 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
Ras activation upon Ca2+ influx through NMDA receptor	5	57.1×	1e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	54.4×	1e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	54.4×	1e-06
Long-term potentiation	5	47.6×	2e-06
Assembly and cell surface presentation of NMDA receptors	9	45.7×	3e-11
Neurexins and neuroligins	10	39.4×	1e-11
Protein-protein interactions at synapses	6	31.9×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	77.5×	2e-14
protein localization to synapse	6	61.3×	8e-08
receptor clustering	7	58.2×	6e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	6	39.6×	7e-07
protein-containing complex assembly	9	13.7×	1e-06
cell-cell adhesion	10	13.5×	3e-07
chemical synaptic transmission	7	7.2×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	26
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

303 predictions. Top by Δscore:

Variant	Effect	Δscore
7:100949682:ACAGG:A	donor_loss	0.9900
7:100949684:AGGTA:A	donor_loss	0.9900
7:100949685:GGTA:G	donor_loss	0.9900
7:100949686:G:A	donor_loss	0.9900
7:100949687:T:G	donor_loss	0.9900
7:100949686:G:GG	donor_gain	0.9500
7:100949683:CAG:C	donor_gain	0.9100
7:100949684:AG:A	donor_gain	0.8900
7:100949685:GG:G	donor_gain	0.8900
7:100952065:GTCA:G	acceptor_gain	0.8400
7:100952212:T:TA	acceptor_gain	0.7700
7:100949682:ACAG:A	donor_gain	0.7600
7:100952064:A:AG	acceptor_gain	0.7100
7:100952065:G:GG	acceptor_gain	0.7100
7:100952216:T:TA	acceptor_gain	0.7100
7:100949681:CACAG:C	donor_gain	0.6400
7:100951834:A:AG	acceptor_gain	0.6400
7:100951644:A:AG	acceptor_gain	0.6200
7:100951645:G:GG	acceptor_gain	0.6200
7:100951800:C:CA	acceptor_gain	0.6100
7:100952064:AGT:A	acceptor_gain	0.6100
7:100951869:TCAAG:T	acceptor_gain	0.6000
7:100952214:T:TA	acceptor_gain	0.5800
7:100951633:ACT:A	acceptor_loss	0.5700
7:100951635:T:TA	acceptor_loss	0.5700
7:100951640:CCCTA:C	acceptor_loss	0.5700
7:100951641:CCTA:C	acceptor_loss	0.5700
7:100951642:CTA:C	acceptor_loss	0.5700
7:100951643:T:TG	acceptor_loss	0.5700
7:100951644:A:AC	acceptor_loss	0.5700

AlphaMissense

21146 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:100965790:T:A	C3179S	0.994
7:100965791:G:C	C3179S	0.994
7:100960823:T:A	C2980S	0.993
7:100960824:G:C	C2980S	0.993
7:100965835:T:A	C3194S	0.993
7:100965836:G:C	C3194S	0.993
7:100966426:T:A	C3218S	0.993
7:100966427:G:C	C3218S	0.993
7:100965820:T:A	C3189S	0.992
7:100965821:G:C	C3189S	0.992
7:100963198:T:C	F3034L	0.991
7:100963200:C:A	F3034L	0.991
7:100963200:C:G	F3034L	0.991
7:100963244:T:G	F3049C	0.991
7:100965291:T:G	F3131C	0.991
7:100963244:T:C	F3049S	0.990
7:100963256:T:G	F3053C	0.990
7:100965778:T:A	C3175S	0.990
7:100965778:T:C	C3175R	0.990
7:100965779:G:C	C3175S	0.990
7:100965790:T:C	C3179R	0.990
7:100966410:G:C	W3212C	0.990
7:100966410:G:T	W3212C	0.990
7:100960907:T:A	C3008S	0.989
7:100960908:G:C	C3008S	0.989
7:100965709:T:A	C3152S	0.989
7:100965710:G:C	C3152S	0.989
7:100965829:G:T	G3192C	0.989
7:100965835:T:C	C3194R	0.989
7:100960908:G:A	C3008Y	0.988

dbSNP variants (sampled 300 via entrez): RS1000036022 (7:100956196 A>G,T), RS1000057068 (7:100949598 T>C), RS1000407277 (7:100956000 C>T), RS1001138345 (7:100966250 G>C,T), RS1001161346 (7:100961506 C>G), RS1001230124 (7:100961762 G>A), RS1001416299 (7:100966823 C>A,T), RS1001681410 (7:100957119 C>A,T), RS1001902824 (7:100953127 A>G,T), RS1001933805 (7:100953266 C>G,T), RS1002108685 (7:100957908 C>G,T), RS1002114063 (7:100957346 C>A,T), RS1002305396 (7:100947915 G>A), RS1002420113 (7:100958397 T>A,C,G), RS1002499659 (7:100948077 G>A)

Disease associations

OMIM: gene MIM:158371 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001684_4	Plasminogen activator inhibitor type 1 levels (PAI-1)	6.000000e-13
GCST007250_7	Nonunion in individuals with fractures	3.000000e-07
GCST010245_111	LDL cholesterol levels	3.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004792	plasminogen activator inhibitor 1 measurement
EFO:0009707	fractures, ununited
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	affects cotreatment, decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
tebuconazole	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Arsenic Trioxide	decreases response to substance	1
Panobinostat	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	decreases expression	1
Estradiol	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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