PARD3B

Summary

PARD3B (par-3 family cell polarity regulator beta, HGNC:14446) is a protein-coding gene on chromosome 2q33.3, encoding Partitioning defective 3 homolog B (Q8TEW8). Putative adapter protein involved in asymmetrical cell division and cell polarization processes.

Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment of cell polarity; establishment of centrosome localization; and establishment or maintenance of epithelial cell apical/basal polarity. Located in cell junction. Part of protein-containing complex.

Source: NCBI Gene 117583 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 245 total — 3 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001302769

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14446
Approved symbol	PARD3B
Name	par-3 family cell polarity regulator beta
Location	2q33.3
Locus type	gene with protein product
Status	Approved
Aliases	Par3L, PAR3beta
Ensembl gene	ENSG00000116117
Ensembl biotype	protein_coding
OMIM	619353
Entrez	117583

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding_CDS_not_defined, 4 protein_coding, 1 nonsense_mediated_decay

ENST00000349953, ENST00000351153, ENST00000358768, ENST00000406610, ENST00000415947, ENST00000465890, ENST00000471958, ENST00000488622, ENST00000489565, ENST00000494482

RefSeq mRNA: 4 — MANE Select: NM_001302769 NM_001302769, NM_057177, NM_152526, NM_205863

CCDS: CCDS42804, CCDS42805, CCDS42806, CCDS77511

Canonical transcript exons

ENST00000406610 — 23 exons

Exon	Start	End
ENSE00001129771	205301464	205301701
ENSE00001325354	205440370	205440672
ENSE00001579804	204545475	204546119
ENSE00001581881	205615456	205620162
ENSE00003237100	205158722	205158907
ENSE00003248950	205121591	205121949
ENSE00003293116	205124327	205124466
ENSE00003304468	205047581	205047690
ENSE00003321477	205193205	205193320
ENSE00003331461	205185764	205185863
ENSE00003335059	205245778	205245822
ENSE00003350959	205125609	205125737
ENSE00003409483	205176445	205176577
ENSE00003443971	205172211	205172381
ENSE00003460221	205118921	205119046
ENSE00003481972	204965152	204965323
ENSE00003523047	205401013	205401123
ENSE00003537481	204686181	204686282
ENSE00003546989	205113491	205113577
ENSE00003566541	205499896	205500031
ENSE00003568676	205104426	205104514
ENSE00003693136	205300530	205300736
ENSE00003694549	205553324	205553403

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 96.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.1691 / max 51.3785, expressed in 1277 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24792	1.7311	906
24793	1.7179	876
24791	0.2766	142
24794	0.1663	52
202542	0.1210	44
24795	0.1097	46
24790	0.0287	7
24796	0.0178	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	96.49	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.38	gold quality
ventricular zone	UBERON:0003053	89.02	gold quality
calcaneal tendon	UBERON:0003701	88.28	gold quality
colonic epithelium	UBERON:0000397	88.01	gold quality
kidney epithelium	UBERON:0004819	87.79	silver quality
saphenous vein	UBERON:0007318	87.17	gold quality
upper arm skin	UBERON:0004263	85.72	gold quality
left ventricle myocardium	UBERON:0006566	85.29	gold quality
tibial artery	UBERON:0007610	85.24	gold quality
popliteal artery	UBERON:0002250	85.23	gold quality
ileal mucosa	UBERON:0000331	84.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.82	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.40	gold quality
skin of hip	UBERON:0001554	83.04	gold quality
tibial nerve	UBERON:0001323	83.00	gold quality
tendon	UBERON:0000043	82.71	gold quality
aorta	UBERON:0000947	82.26	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.17	gold quality
right coronary artery	UBERON:0001625	81.97	gold quality
tibialis anterior	UBERON:0001385	81.49	silver quality
germinal epithelium of ovary	UBERON:0001304	81.44	gold quality
subcutaneous adipose tissue	UBERON:0002190	80.71	gold quality
adipose tissue	UBERON:0001013	80.32	gold quality
coronary artery	UBERON:0001621	80.27	gold quality
left coronary artery	UBERON:0001626	80.19	gold quality
synovial joint	UBERON:0002217	79.93	gold quality
buccal mucosa cell	CL:0002336	79.92	silver quality
dorsal root ganglion	UBERON:0000044	79.88	gold quality
corpus callosum	UBERON:0002336	79.52	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	85.44
E-CURD-119	yes	34.03
E-HCAD-25	yes	23.04
E-HCAD-10	yes	15.95
E-ANND-3	yes	7.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

160 targeting PARD3B, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6867-5P	100.00	82.21	3464
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-6133	100.00	66.48	2064
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-2110	99.96	66.68	1930
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

Literature-anchored findings (GeneRIF, showing 7)

• PAR3beta, expressed intrinsically or extrinsically, localizes to the tight junctions, indicating that the localization does not require the ternary complex formation. (PMID:12459187)
• binding of 14-3-3 to Par3beta is dependent on phosphorylation (PMID:15721295)
• The association of single-nucleotide polymorphisms of PARD3B with slower progression of HIV infection to AIDS is reported. (PMID:21502085)
• Par3L interacts with Lkb1 and regulates the activity of AMPK signaling cascade. (PMID:27908725)
• artitioning defective 3-like protein may serve as a promising prognostic marker and a potential therapeutic target for colorectal cancer treatment. Further study is necessary to understand the regulatory mechanism of partitioning defective 3-like protein in colorectal cancer and the feasibility of its application in clinic. (PMID:28443499)
• Par-3 family proteins in cell polarity & adhesion. (PMID:33565714)
• VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization. (PMID:37391589)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	pard3bb	ENSDARG00000034555
danio_rerio		ENSDARG00000092671
danio_rerio	pard3ba	ENSDARG00000113935
mus_musculus	Pard3b	ENSMUSG00000052062
rattus_norvegicus	Pard3b	ENSRNOG00000024345
drosophila_melanogaster	baz	FBGN0000163
caenorhabditis_elegans		WBGENE00003918

Paralogs (1): PARD3 (ENSG00000148498)

Protein

Protein identifiers

Partitioning defective 3 homolog B — Q8TEW8 (reviewed: Q8TEW8)

Alternative names: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein, PAR3-beta, Partitioning defective 3-like protein

All UniProt accessions (1): Q8TEW8

UniProt curated annotations — full annotation on UniProt →

Function. Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.

Subunit / interactions. Interacts with PARD6B. Interacts with INSC/inscuteable.

Subcellular location. Endomembrane system. Cell junction. Tight junction.

Tissue specificity. Highly expressed in kidney, lung and skeletal muscle. Expressed at intermediate levels in brain, heart, placenta, liver and pancreas. Isoform 1 is predominant, while isoform 2 and isoform 3 are expressed at lower levels.

Domain organisation. The N-terminal part (1-351) part blocks the association of the tight junction marker TJP1 with the cell-cell boundary when it is overexpressed.

Similarity. Belongs to the PAR3 family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q8TEW8-1	1, Par3La, a	yes
Q8TEW8-2	2, Par3Lb, b
Q8TEW8-3	3, Par3Lc, c
Q8TEW8-4	4
Q8TEW8-5	5
Q8TEW8-6	6

RefSeq proteins (4): NP_001289698, NP_476518, NP_689739, NP_995585 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR021922	Par3/HAL_N	Domain
IPR036034	PDZ_sf	Homologous_superfamily
IPR052213	PAR3	Family

Pfam: PF00595, PF12053

UniProt features (38 total): modified residue 12, splice variant 6, region of interest 6, compositionally biased region 5, sequence variant 4, domain 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TEW8-F1	55.56	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 (12): 100, 346, 352, 368, 635, 710, 728, 730, 746, 749, 801, 1184

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 128 (showing top): BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GCANCTGNY_MYOD_Q6, ACTGCAG_MIR173P, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOCC_APICAL_PLASMA_MEMBRANE, CUI_TCF21_TARGETS_2_DN, GOCC_CELL_CELL_JUNCTION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_BIPOLAR_CELL_POLARITY, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, CTCTATG_MIR368, GOCC_APICAL_PART_OF_CELL, GOBP_CELL_DIVISION, GOCC_ANCHORING_JUNCTION

GO Biological Process (7): microtubule cytoskeleton organization (GO:0000226), cell adhesion (GO:0007155), intracellular protein localization (GO:0008104), establishment of cell polarity (GO:0030010), establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197), cell division (GO:0051301), establishment of centrosome localization (GO:0051660)

GO Molecular Function (2): phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515)

GO Cellular Component (10): adherens junction (GO:0005912), bicellular tight junction (GO:0005923), cell cortex (GO:0005938), endomembrane system (GO:0012505), apical plasma membrane (GO:0016324), cell junction (GO:0030054), protein-containing complex (GO:0032991), apical junction complex (GO:0043296), membrane (GO:0016020), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cellular process	2
cell-cell junction	2
cytoskeleton organization	1
microtubule-based process	1
macromolecule localization	1
establishment or maintenance of cell polarity	1
establishment or maintenance of apical/basal cell polarity	1
centrosome localization	1
establishment of localization in cell	1
establishment of organelle localization	1
anion binding	1
binding	1
apical junction complex	1
tight junction	1
cytoplasm	1
cell periphery	1
vacuole	1
plasma membrane	1
apical part of cell	1
plasma membrane region	1
cellular_component	1
cell junction	1

Protein interactions and networks

STRING

1220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PARD3B	GPSM2	P81274	903
PARD3B	INSC	Q1MX18	831
PARD3B	GPSM1	Q86YR5	777
PARD3B	PARD6B	Q9BYG5	516
PARD3B	PARD6A	Q9NPB6	500
PARD3B	MPP2	Q14168	498
PARD3B	LLGL1	Q15334	476
PARD3B	PARD6G	Q9BYG4	452
PARD3B	PALS1	Q8N3R9	451
PARD3B	LNX1	Q8TBB1	448
PARD3B	PRKCI	P41743	445
PARD3B	ZMYM5	Q9UJ78	440
PARD3B	MPDZ	O75970	436
PARD3B	DLG2	Q15700	431
PARD3B	PRKCZ	Q05513	423

IntAct

428 interactions, top by confidence:

A	B	Type	Score
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
RPS6KA1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.610
	PARD3B	psi-mi:“MI:0915”(physical association)	0.590
CIB2	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.590
RPS6KA1	RPS6KA1	psi-mi:“MI:0915”(physical association)	0.590
GP1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.540
GP1	PARD3B	psi-mi:“MI:0915”(physical association)	0.540
Tax	PARD3B	psi-mi:“MI:0915”(physical association)	0.540
Tax	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.540
PARD3B	E6	psi-mi:“MI:0407”(direct interaction)	0.440
PTEN	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
NET1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
WHRN	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
BANF1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
VAC14	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
GRIA2	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
JAM3	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
GNG4	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
APBA1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
AMOTL1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
JAM2	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
EPHA6	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
PRLHR	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
CACNA1D	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
GRIA3	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (53): PARD3B (Affinity Capture-RNA), PARD3B (Affinity Capture-RNA), PARD3B (Affinity Capture-MS), YWHAE (Two-hybrid), PARD3B (Two-hybrid), PARD3B (Two-hybrid), PARD3B (Two-hybrid), PARD3B (Two-hybrid), MARK2 (Two-hybrid), PARD3B (Affinity Capture-MS), PARD3B (Affinity Capture-MS), PARD3B (Protein-peptide), PARD3B (Affinity Capture-RNA), PARD3B (Proximity Label-MS), PARD3B (Proximity Label-MS)

ESM2 similar proteins: A0JN71, A4IFK0, A5PMU4, A6QQV9, O15034, O15040, O62666, O62674, O62675, O62676, O62677, O62678, O75995, P49796, P52734, P59672, P78314, P97432, P98174, Q06649, Q0V8R5, Q13905, Q14596, Q3U0J8, Q501R9, Q53GL0, Q5BJM5, Q5F3C8, Q5RC94, Q5SUE8, Q6AI12, Q6ZMT1, Q7Z5H3, Q80U40, Q80UZ0, Q80XA6, Q80YS6, Q8BL80, Q8K352, Q8N556

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

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 188 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	7	37.3×	1e-07
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	32.9×	1e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	32.9×	1e-07
Activation of BH3-only proteins	7	24.3×	8e-07
Signaling by Hippo	5	19.0×	2e-04
RHO GTPases activate PKNs	7	15.5×	2e-05
Intrinsic Pathway for Apoptosis	7	14.3×	3e-05
FOXO-mediated transcription	6	14.1×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal snRNP assembly	6	19.7×	7e-04
protein-containing complex assembly	10	6.4×	3e-03
chemical synaptic transmission	11	4.8×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	207
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3897611	NM_001302769.2(PARD3B):c.3346del (p.Ala1116fs)	Likely pathogenic
545254	NC_000002.12:g.(?205102232)(205198713_?)del	Likely pathogenic
545255	NC_000002.12:g.(?205264941)(205497509_?)del	Likely pathogenic

SpliceAI

7473 predictions. Top by Δscore:

Variant	Effect	Δscore
2:204686176:TATAG:T	acceptor_loss	1.0000
2:204686177:ATAG:A	acceptor_gain	1.0000
2:204686178:TA:T	acceptor_loss	1.0000
2:204686179:AG:A	acceptor_gain	1.0000
2:204686179:AGGGT:A	acceptor_loss	1.0000
2:204686180:GG:G	acceptor_gain	1.0000
2:204710824:A:AG	acceptor_gain	1.0000
2:204841134:T:G	donor_gain	1.0000
2:204965143:T:TA	acceptor_gain	1.0000
2:204965147:T:TA	acceptor_gain	1.0000
2:204965147:TGTA:T	acceptor_loss	1.0000
2:204965148:GTA:G	acceptor_loss	1.0000
2:204965149:TA:T	acceptor_loss	1.0000
2:204965150:A:AC	acceptor_loss	1.0000
2:204965150:A:AG	acceptor_gain	1.0000
2:204965150:AGCT:A	acceptor_gain	1.0000
2:204965151:G:GT	acceptor_gain	1.0000
2:204965151:GC:G	acceptor_gain	1.0000
2:204965151:GCT:G	acceptor_gain	1.0000
2:204965151:GCTG:G	acceptor_gain	1.0000
2:204965151:GCTGA:G	acceptor_gain	1.0000
2:204965320:CTAGG:C	donor_loss	1.0000
2:204965322:AGGTA:A	donor_loss	1.0000
2:204965324:G:GG	donor_gain	1.0000
2:204965324:GT:G	donor_loss	1.0000
2:204965325:T:G	donor_loss	1.0000
2:205018895:C:G	donor_gain	1.0000
2:205047691:G:GG	donor_gain	1.0000
2:204546115:AGAAG:A	donor_loss	0.9900
2:204546116:GAAGG:G	donor_loss	0.9900

AlphaMissense

7863 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:205124345:T:C	F395S	1.000
2:205172248:T:A	V553D	1.000
2:205172299:T:C	L570P	1.000
2:205300685:T:C	F781L	1.000
2:205300686:T:C	F781S	1.000
2:205300686:T:G	F781C	1.000
2:205300687:T:A	F781L	1.000
2:205300687:T:G	F781L	1.000
2:205121941:T:C	L386P	0.999
2:205124344:T:C	F395L	0.999
2:205124346:C:A	F395L	0.999
2:205124346:C:G	F395L	0.999
2:205124399:A:T	K413I	0.999
2:205124441:T:C	L427P	0.999
2:205124459:T:C	I433T	0.999
2:205124459:T:G	I433S	0.999
2:205125649:T:C	L449P	0.999
2:205125661:T:A	L453H	0.999
2:205125661:T:C	L453P	0.999
2:205158789:T:C	L501P	0.999
2:205158813:T:A	L509H	0.999
2:205158816:G:A	G510E	0.999
2:205158821:A:C	S512R	0.999
2:205158823:C:A	S512R	0.999
2:205158823:C:G	S512R	0.999
2:205158829:A:C	K514N	0.999
2:205158829:A:T	K514N	0.999
2:205158863:G:A	G526R	0.999
2:205158863:G:C	G526R	0.999
2:205158863:G:T	G526W	0.999

dbSNP variants (sampled 300 via entrez): RS1000000118 (2:204733075 G>A), RS1000000485 (2:205343642 G>A), RS1000007413 (2:205425051 T>A,C), RS1000007648 (2:205458965 G>T), RS1000015648 (2:205241168 C>G,T), RS1000017360 (2:204608212 A>C,G), RS1000018279 (2:204651350 A>G), RS1000024661 (2:205285240 C>G), RS1000030139 (2:204758043 C>A), RS1000032599 (2:204853680 AT>A,ATT), RS1000036320 (2:205251581 T>C), RS1000038253 (2:205506970 A>G), RS1000039711 (2:205537194 A>G), RS1000040785 (2:205057891 T>C), RS1000044575 (2:205088275 A>T)

Disease associations

OMIM: gene MIM:619353 | disease phenotypes: MIM:181500

GenCC curated gene-disease

Mondo (2): autism spectrum disorder (MONDO:0005258), schizophrenia (MONDO:0005090)

Orphanet (2): NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0100753	Schizophrenia

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000186_2	Knee osteoarthritis	6.000000e-06
GCST001060_4	AIDS progression	3.000000e-09
GCST001619_1	Autism	4.000000e-07
GCST002761_5	Hippocampal volume	3.000000e-06
GCST002875_78	Diisocyanate-induced asthma	1.000000e-06
GCST002931_9	Aluminium levels	3.000000e-07
GCST003264_1405	Post bronchodilator FEV1/FVC ratio	2.000000e-07
GCST004068_22	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	3.000000e-06
GCST004412_2	Craniofacial microsomia	7.000000e-10
GCST004904_151	Body mass index	4.000000e-08
GCST005576_22	Intracranial aneurysm	4.000000e-06
GCST005580_272	Intraocular pressure	5.000000e-10
GCST005580_96	Intraocular pressure	6.000000e-11
GCST005588_17	Idiopathic dilated cardiomyopathy	5.000000e-06
GCST006394_49	Intraocular pressure	6.000000e-10
GCST006412_29	Intraocular pressure	2.000000e-10
GCST006916_8	Attention deficit hyperactivity disorder	5.000000e-06
GCST007325_155	General risk tolerance (MTAG)	9.000000e-12
GCST008156_113	Hip circumference adjusted for BMI	2.000000e-06
GCST009725_54	Intraocular pressure	1.000000e-09
GCST010105_116	Nicotine dependence symptom count	8.000000e-06
GCST010105_156	Nicotine dependence symptom count	8.000000e-06
GCST010988_199	Adult body size	2.000000e-13
GCST011693_4	Triglyceride levels	5.000000e-08
GCST011693_5	Triglyceride levels	3.000000e-07
GCST012325_2	HDL levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder	5.000000e-07

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume
EFO:0006995	response to diisocyanate
EFO:0004713	FEV/FVC ratio
EFO:0004340	body mass index
EFO:0004695	intraocular pressure measurement
EFO:0009094	idiopathic dilated cardiomyopathy
EFO:0008579	risk-taking behaviour
EFO:0008039	BMI-adjusted hip circumference
EFO:0009262	nicotine dependence symptom count
EFO:0004530	triglyceride measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0005658	response to selective serotonin reuptake inhibitor

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs17626122	Toxicity	3	fluorouracil;oxaliplatin	Colorectal Neoplasms;Drug Toxicity

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17626122	PARD3B	3	0.00	1	fluorouracil;oxaliplatin

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression, decreases methylation	4
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methyleugenol	decreases expression	1
bisphenol A	affects cotreatment, affects methylation, decreases methylation	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
polyhexamethyleneguanidine	affects expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
trans-10,cis-12-conjugated linoleic acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Vorinostat	decreases expression, affects cotreatment	1
Cannabidiol	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Methotrexate	increases expression	1
Nickel	decreases expression	1
Niclosamide	increases expression	1
Phthalic Acids	decreases expression	1
Smoke	increases abundance, increases expression	1

Cellosaurus cell lines

8 cell lines: 8 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_1174	DMS 114	Cancer cell line	Male
CVCL_1783	UM-UC-3	Cancer cell line	Male
CVCL_A5WS	UM-UC-3 LLWO1	Cancer cell line	Male
CVCL_A5WT	UM-UC-3 LLWO2F	Cancer cell line	Male
CVCL_RL88	Gli36	Cancer cell line
CVCL_VL56	UM-UC-3-Luc	Cancer cell line	Male
CVCL_VL57	UM-UC-3-LuL-1	Cancer cell line	Male
CVCL_VL58	UM-UC-3-LuL-2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder