TJP3

Summary

TJP3 (tight junction protein 3, HGNC:11829) is a protein-coding gene on chromosome 19p13.3, encoding Tight junction protein ZO-3 (O95049). TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton.

The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1.

Source: NCBI Gene 27134 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_001267560

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11829
Approved symbol	TJP3
Name	tight junction protein 3
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	ZO-3
Ensembl gene	ENSG00000105289
Ensembl biotype	protein_coding
OMIM	612689
Entrez	27134

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000539908, ENST00000541714, ENST00000586032, ENST00000587641, ENST00000587686, ENST00000587912, ENST00000589378, ENST00000590545, ENST00000591493, ENST00000872695, ENST00000872696, ENST00000872697, ENST00000872698, ENST00000872699, ENST00000872700, ENST00000872701, ENST00000956532, ENST00000956533, ENST00000956534, ENST00000956535, ENST00000956536

RefSeq mRNA: 2 — MANE Select: NM_001267560 NM_001267560, NM_001267561

CCDS: CCDS32873, CCDS59332

Canonical transcript exons

ENST00000541714 — 21 exons

Exon	Start	End
ENSE00000664329	3743939	3744034
ENSE00000664330	3740552	3740763
ENSE00000664331	3738897	3739134
ENSE00000664332	3738555	3738663
ENSE00000664333	3736165	3736321
ENSE00000664334	3735869	3735935
ENSE00000664335	3735566	3735639
ENSE00000664337	3733753	3733912
ENSE00000664338	3731935	3732038
ENSE00000664339	3730355	3730706
ENSE00000664340	3730028	3730130
ENSE00002316006	3734327	3734435
ENSE00002814602	3708384	3708561
ENSE00003465503	3746776	3746876
ENSE00003500629	3750582	3750813
ENSE00003536149	3728424	3728480
ENSE00003551489	3746011	3746081
ENSE00003566855	3728604	3728713
ENSE00003615469	3746485	3746695
ENSE00003620488	3747794	3748081
ENSE00003649766	3750138	3750184

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 98.92.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4238 / max 95.6300, expressed in 435 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173234	0.9251	373
173232	0.7753	201
173233	0.6117	174
173236	0.0717	7
173237	0.0265	5
173235	0.0136	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	98.92	gold quality
lower esophagus mucosa	UBERON:0035834	97.84	gold quality
right uterine tube	UBERON:0001302	97.61	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.91	gold quality
left testis	UBERON:0004533	94.99	gold quality
right testis	UBERON:0004534	94.84	gold quality
nasal cavity epithelium	UBERON:0005384	94.64	gold quality
buccal mucosa cell	CL:0002336	93.92	gold quality
epithelium of bronchus	UBERON:0002031	93.63	gold quality
bronchial epithelial cell	CL:0002328	93.48	gold quality
bronchus	UBERON:0002185	93.09	gold quality
testis	UBERON:0000473	92.82	gold quality
rectum	UBERON:0001052	92.19	gold quality
esophagus mucosa	UBERON:0002469	91.93	gold quality
duodenum	UBERON:0002114	91.84	gold quality
minor salivary gland	UBERON:0001830	91.71	gold quality
saliva-secreting gland	UBERON:0001044	91.31	gold quality
nasal cavity mucosa	UBERON:0001826	91.00	gold quality
parotid gland	UBERON:0001831	90.52	gold quality
transverse colon	UBERON:0001157	90.46	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.41	gold quality
endometrium epithelium	UBERON:0004811	90.06	gold quality
mouth mucosa	UBERON:0003729	89.52	gold quality
small intestine	UBERON:0002108	89.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.94	gold quality
colonic mucosa	UBERON:0000317	88.89	gold quality
right lobe of liver	UBERON:0001114	88.84	gold quality
right lobe of thyroid gland	UBERON:0001119	88.48	gold quality
left lobe of thyroid gland	UBERON:0001120	88.38	gold quality
jejunal mucosa	UBERON:0000399	88.07	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.10
E-CURD-10	no	3.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting TJP3, 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-6133	100.00	66.48	2064
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-3664-5P	96.74	66.56	770

Literature-anchored findings (GeneRIF, showing 3)

• Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation (PMID:21411630)
• Long noncoding RNA NEAT1 promotes ovarian cancer cell invasion and migration by interacting with miR1321 and regulating tight junction protein 3 expression. (PMID:32945443)
• TJP3 promotes T cell immunity escape and chemoresistance in breast cancer: a comprehensive analysis of anoikis-based prognosis prediction and drug sensitivity stratification. (PMID:37950731)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tjp3	ENSDARG00000002909
mus_musculus	Tjp3	ENSMUSG00000034917
rattus_norvegicus	Tjp3	ENSRNOG00000020501
drosophila_melanogaster	pyd	FBGN0262614
caenorhabditis_elegans	zoo-1	WBGENE00013683

Paralogs (3): TJP1 (ENSG00000104067), TJP2 (ENSG00000119139), DLG5 (ENSG00000151208)

Protein

Protein identifiers

Tight junction protein ZO-3 — O95049 (reviewed: O95049)

Alternative names: Tight junction protein 3, Zona occludens protein 3, Zonula occludens protein 3

All UniProt accessions (3): O95049, K7EJ86, K7ESC0

UniProt curated annotations — full annotation on UniProt →

Function. TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton. The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions. Promotes cell-cycle progression through the sequestration of cyclin D1 (CCND1) at tight junctions during mitosis which prevents CCND1 degradation during M-phase and enables S-phase transition. With TJP1 and TJP2, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus. Contrary to TJP2, TJP3 is dispensable for individual viability, embryonic development, epithelial differentiation, and the establishment of TJs, at least in the laboratory environment.

Subunit / interactions. Interacts with occludin OCLN, claudins and TPJ1. Interacts with PATJ. Interacts with UBN1. Interacts with FASLG. Interacts with CCND1.

Subcellular location. Cell membrane. Cell junction. Tight junction. Nucleus.

Post-translational modifications. Phosphorylated.

Induction. Exhibits enhanced expression in matured epithelial layers. Apical leptin, Staphylococcus aureus alpha-toxin and Pseudomonas aeruginosa acyl-homoserine lactone 3O-C12-HSl lower expression levels, altering junctional integrity in intestinal cells.

Similarity. Belongs to the MAGUK family.

Isoforms (4)

UniProt ID	Names	Canonical?
O95049-1	5	yes
O95049-3	3
O95049-4	4
O95049-5	6

RefSeq proteins (2): NP_001254489, NP_001254490 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001478	PDZ	Domain
IPR005417	ZO	Family
IPR005420	ZO-3	Family
IPR008144	Guanylate_kin-like_dom	Domain
IPR008145	GK/Ca_channel_bsu	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily

Pfam: PF00595, PF00625, PF07653

UniProt features (61 total): modified residue 13, strand 13, helix 9, sequence conflict 6, domain 5, compositionally biased region 5, region of interest 4, splice variant 3, chain 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3KFV	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95049-F1	67.25	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 (13): 112, 136, 164, 169, 203, 319, 325, 327, 371, 591, 856, 905, 906

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_ENDOTHELIAL_INTESTINAL_BARRIER, KEGG_TIGHT_JUNCTION, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, SMID_BREAST_CANCER_LUMINAL_B_UP, GOBP_ENDOTHELIUM_DEVELOPMENT, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOBP_POSITIVE_REGULATION_OF_VASCULAR_PERMEABILITY, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP

GO Biological Process (6): maintenance of blood-brain barrier (GO:0035633), cell-cell junction organization (GO:0045216), establishment of endothelial intestinal barrier (GO:0090557), cell-cell adhesion (GO:0098609), protein localization to cell-cell junction (GO:0150105), positive regulation of blood-brain barrier permeability (GO:1905605)

GO Molecular Function (2): cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), cell junction (GO:0030054), cell-cell junction (GO:0005911), membrane (GO:0016020), tight junction (GO:0070160), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
tissue homeostasis	1
cell junction organization	1
establishment of endothelial barrier	1
cell adhesion	1
protein localization to cell junction	1
positive regulation of vascular permeability	1
regulation of blood-brain barrier permeability	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
anchoring junction	1
cell-cell junction	1
cell junction	1

Protein interactions and networks

STRING

854 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TJP3	OCLN	Q16625	998
TJP3	CGN	Q9P2M7	997
TJP3	MARVELD2	Q8N4S9	995
TJP3	CLDN1	O95832	988
TJP3	TJP2	Q9UDY2	988
TJP3	TJP1	Q07157	984
TJP3	CLDN7	O95471	966
TJP3	CLDN3	O15551	956
TJP3	PATJ	Q8NI35	952
TJP3	AFDN	P55196	931
TJP3	CLDN8	P56748	915
TJP3	F11R	Q9Y624	914
TJP3	CLDN2	P57739	879
TJP3	MPDZ	O75970	855
TJP3	CLDN5	O00501	846

IntAct

570 interactions, top by confidence:

A	B	Type	Score
TJP3	PATJ	psi-mi:“MI:0407”(direct interaction)	0.680
E	TJP3	psi-mi:“MI:0915”(physical association)	0.670
E	TJP3	psi-mi:“MI:0407”(direct interaction)	0.670
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
CFTR	TJP3	psi-mi:“MI:0407”(direct interaction)	0.590
GP1	TJP3	psi-mi:“MI:0915”(physical association)	0.540
CREBBP	TJP3	psi-mi:“MI:0915”(physical association)	0.540
CREBBP	TJP3	psi-mi:“MI:0407”(direct interaction)	0.540
GP1	TJP3	psi-mi:“MI:0407”(direct interaction)	0.540
FASLG	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
TJP3	E6	psi-mi:“MI:0407”(direct interaction)	0.440
TJP3	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
RHPN1	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
TJP3	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
GAS2L2	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
TJP3	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
CTNND2	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
PKP4	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
TJP3	LNX1	psi-mi:“MI:0407”(direct interaction)	0.440
CSPG4	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
TJP3	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
ARVCF	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (18): TJP3 (Affinity Capture-MS), TJP3 (Affinity Capture-MS), TJP3 (Affinity Capture-MS), TJP3 (Affinity Capture-MS), INADL (Reconstituted Complex), TJP3 (Affinity Capture-Western), TJP1 (Affinity Capture-Western), TJP3 (Reconstituted Complex), TJP3 (Affinity Capture-MS), TJP3 (Affinity Capture-MS), TJP3 (Affinity Capture-MS), TJP3 (Protein-peptide), TJP3 (PCA), TJP3 (Affinity Capture-RNA), TJP3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0G2K2P5, A0JNJ1, B1WAP7, G9CGD6, O14640, O75122, O88382, O95049, O97758, P34908, P39447, P51141, P54792, P70175, Q05AS8, Q07157, Q16825, Q5F488, Q5IS48, Q5SGD7, Q5TCQ9, Q5XI81, Q61062, Q62136, Q62728, Q62936, Q6DKE2, Q6P9H4, Q6ZM86, Q812E4, Q86UL8, Q8BMA3, Q8IVH8, Q8JHI3, Q8TDW5, Q920B0, Q924I2, Q925T6, Q92997, Q95168

Diamond homologs: A0A0G2K2P5, A0A8P0N4K0, C5IAW9, F1LW30, O08721, O08722, O08747, O62683, O95049, O95185, O97758, P39447, P57105, Q07157, Q0P5E6, Q13424, Q28626, Q32LE7, Q3T0C9, Q5EBL8, Q5ZIK2, Q61234, Q6NXB2, Q6QA76, Q6R653, Q6UXZ4, Q6ZN44, Q761X5, Q7KRY7, Q7T2Z5, Q80VW5, Q86UL8, Q8IV45, Q8IZJ1, Q8JGT4, Q8K1S2, Q8K1S3, Q8K1S4, Q95168, Q9CZG9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ZEB2	“down-regulates quantity by repression”	TJP3	“transcriptional regulation”
TJP3	down-regulates	Epithelial-mesenchymal_transition

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 161 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	6	30.3×	2e-06
Unblocking of NMDA receptors, glutamate binding and activation	6	28.9×	2e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	6	28.9×	2e-06
Long-term potentiation	6	25.3×	5e-06
Neurexins and neuroligins	14	24.4×	2e-13
Synaptic adhesion-like molecules	5	24.1×	7e-05
Assembly and cell surface presentation of NMDA receptors	9	20.2×	1e-07
RHOQ GTPase cycle	9	14.4×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein localization to synapse	6	30.6×	6e-06
establishment or maintenance of epithelial cell apical/basal polarity	7	27.1×	1e-06
regulation of postsynaptic membrane neurotransmitter receptor levels	7	23.1×	4e-06
positive regulation of excitatory postsynaptic potential	6	21.1×	5e-05
receptor clustering	5	20.8×	5e-04
bicellular tight junction assembly	6	13.2×	7e-04
protein-containing complex assembly	14	10.6×	7e-08
Rho protein signal transduction	6	9.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2871 predictions. Top by Δscore:

Variant	Effect	Δscore
19:3728476:CCAAG:C	donor_loss	1.0000
19:3728477:CAAGG:C	donor_loss	1.0000
19:3728482:T:A	donor_loss	1.0000
19:3728712:CA:C	donor_gain	1.0000
19:3728712:CAGTG:C	donor_loss	1.0000
19:3728713:AGTG:A	donor_loss	1.0000
19:3728714:G:GG	donor_gain	1.0000
19:3728714:G:T	donor_loss	1.0000
19:3728716:GAGTA:G	donor_loss	1.0000
19:3730022:TCTCA:T	acceptor_loss	1.0000
19:3730023:CTCAG:C	acceptor_loss	1.0000
19:3730024:TCAGG:T	acceptor_loss	1.0000
19:3730025:CAG:C	acceptor_loss	1.0000
19:3730026:A:AG	acceptor_gain	1.0000
19:3730026:A:C	acceptor_loss	1.0000
19:3730026:AG:A	acceptor_gain	1.0000
19:3730027:G:A	acceptor_gain	1.0000
19:3730027:G:GA	acceptor_gain	1.0000
19:3730027:GGA:G	acceptor_gain	1.0000
19:3730027:GGAC:G	acceptor_gain	1.0000
19:3730027:GGACA:G	acceptor_gain	1.0000
19:3730126:ACATC:A	donor_gain	1.0000
19:3730128:ATC:A	donor_gain	1.0000
19:3730129:TC:T	donor_gain	1.0000
19:3730131:G:GG	donor_gain	1.0000
19:3730135:G:GG	donor_gain	1.0000
19:3730354:GACA:G	acceptor_gain	1.0000
19:3730738:G:GG	donor_gain	1.0000
19:3730776:TTTC:T	donor_gain	1.0000
19:3731933:A:AG	acceptor_gain	1.0000

AlphaMissense

5959 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3739008:T:C	F502S	0.997
19:3738945:G:C	R481P	0.995
19:3740739:T:G	Y607D	0.994
19:3740640:T:C	F574L	0.991
19:3740642:C:A	F574L	0.991
19:3740642:C:G	F574L	0.991
19:3731964:T:C	F215L	0.990
19:3731966:C:A	F215L	0.990
19:3731966:C:G	F215L	0.990
19:3736314:T:C	I426T	0.990
19:3738594:G:C	A442P	0.990
19:3743968:G:A	G625R	0.990
19:3743968:G:C	G625R	0.990
19:3746531:T:C	L686P	0.990
19:3739119:T:A	I539N	0.989
19:3746859:T:A	W769R	0.989
19:3746859:T:C	W769R	0.989
19:3731968:T:A	I216N	0.988
19:3732025:A:G	D235G	0.988
19:3738990:T:C	F496S	0.988
19:3740645:G:C	W575C	0.988
19:3740645:G:T	W575C	0.988
19:3736250:T:C	F405L	0.987
19:3736252:C:A	F405L	0.987
19:3736252:C:G	F405L	0.987
19:3738944:C:A	R481S	0.986
19:3738953:T:C	F484L	0.986
19:3738955:T:A	F484L	0.986
19:3738955:T:G	F484L	0.986
19:3732025:A:T	D235V	0.984

dbSNP variants (sampled 300 via entrez): RS1000076677 (19:3742489 C>T), RS1000117214 (19:3721555 G>C,T), RS1000383831 (19:3740491 C>T), RS1000397544 (19:3745752 A>G), RS1000457399 (19:3748877 G>C,T), RS1000499715 (19:3736732 G>A), RS1000501221 (19:3735699 G>A,T), RS1000633969 (19:3706638 G>T), RS1000655295 (19:3707028 A>G), RS1000697828 (19:3725596 T>G), RS1000719376 (19:3731031 C>A,T), RS1000743432 (19:3746697 T>C), RS1000849230 (19:3748559 C>T), RS1000912349 (19:3745480 G>A), RS1000959258 (19:3706445 C>G,T)

Disease associations

OMIM: gene MIM:612689 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST009543_2	Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect)	1.000000e-06
GCST90011898_84	Alanine aminotransferase levels	8.000000e-10
GCST90011899_154	Aspartate aminotransferase levels	8.000000e-09
GCST90013663_19	Alanine aminotransferase levels	8.000000e-12
GCST90013664_79	Aspartate aminotransferase levels	4.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0005939	parental genotype effect measurement
EFO:0009116	vitamin supplement exposure 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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Air Pollutants	increases abundance, increases expression, decreases expression	3
trichostatin A	affects cotreatment, decreases expression	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	2
Acetaminophen	decreases expression	2
Calcitriol	increases expression, affects cotreatment	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	decreases expression	1
lead acetate	decreases expression	1
sulforaphane	decreases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
aflatoxin B2	decreases methylation	1
cupric chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
3-nitrobenzanthrone	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	decreases expression, affects cotreatment	1
Resveratrol	increases expression	1

Clinical trials (associated diseases)

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