BAIAP3

Summary

BAIAP3 (BAI1 associated protein 3, HGNC:948) is a protein-coding gene on chromosome 16p13.3, encoding BAI1-associated protein 3 (O94812). Functions in endosome to Golgi retrograde transport.

This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 8938 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 329 total — 4 pathogenic
• MANE Select transcript: NM_001199097

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:948
Approved symbol	BAIAP3
Name	BAI1 associated protein 3
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	BAP3, KIAA0734
Ensembl gene	ENSG00000007516
Ensembl biotype	protein_coding
OMIM	604009
Entrez	8938

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 22 protein_coding, 7 retained_intron, 4 nonsense_mediated_decay

ENST00000324385, ENST00000397488, ENST00000421665, ENST00000426824, ENST00000561602, ENST00000561793, ENST00000562208, ENST00000564213, ENST00000565665, ENST00000566389, ENST00000567203, ENST00000567825, ENST00000568198, ENST00000568887, ENST00000711102, ENST00000711103, ENST00000711104, ENST00000711105, ENST00000711106, ENST00000711107, ENST00000711108, ENST00000711109, ENST00000711110, ENST00000711111, ENST00000858414, ENST00000858415, ENST00000858416, ENST00000858417, ENST00000858418, ENST00000858419, ENST00000858420, ENST00000956656, ENST00000956657

RefSeq mRNA: 6 — MANE Select: NM_001199097 NM_001199096, NM_001199097, NM_001199098, NM_001199099, NM_001286464, NM_003933

CCDS: CCDS10434, CCDS55978, CCDS55979, CCDS58402, CCDS58403, CCDS66894

Canonical transcript exons

ENST00000426824 — 34 exons

Exon	Start	End
ENSE00000346122	1339164	1339244
ENSE00000346139	1344969	1345099
ENSE00000346141	1345747	1345890
ENSE00000665662	1346847	1346955
ENSE00000665665	1346170	1346361
ENSE00000665669	1345249	1345372
ENSE00000665674	1344227	1344317
ENSE00000665675	1344022	1344146
ENSE00000665676	1343393	1343513
ENSE00000665726	1342181	1342283
ENSE00000873584	1342527	1342634
ENSE00000873585	1342719	1342814
ENSE00000873586	1342913	1343016
ENSE00002268929	1348379	1349439
ENSE00003476026	1341129	1341195
ENSE00003495526	1344798	1344849
ENSE00003521051	1345986	1346078
ENSE00003530279	1340922	1340981
ENSE00003530473	1346442	1346510
ENSE00003533877	1338902	1338989
ENSE00003534020	1341986	1342063
ENSE00003537525	1348096	1348301
ENSE00003574935	1347701	1347821
ENSE00003575055	1341294	1341489
ENSE00003606275	1344469	1344525
ENSE00003609854	1346605	1346684
ENSE00003610066	1347298	1347369
ENSE00003627833	1341822	1341866
ENSE00003637947	1344601	1344698
ENSE00003655524	1347894	1348017
ENSE00003664924	1347545	1347625
ENSE00003680475	1338540	1338680
ENSE00003685677	1339496	1339603
ENSE00003900535	1333645	1333749

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 99.35.

FANTOM5 (CAGE): breadth broad, TPM avg 4.8226 / max 663.9828, expressed in 672 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152094	4.4525	605
152095	0.3702	175

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.35	gold quality
adenohypophysis	UBERON:0002196	99.32	gold quality
pituitary gland	UBERON:0000007	99.28	gold quality
right frontal lobe	UBERON:0002810	95.73	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.68	gold quality
cingulate cortex	UBERON:0003027	94.57	gold quality
anterior cingulate cortex	UBERON:0009835	94.54	gold quality
hypothalamus	UBERON:0001898	94.43	gold quality
amygdala	UBERON:0001876	93.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.18	gold quality
prefrontal cortex	UBERON:0000451	92.80	gold quality
frontal cortex	UBERON:0001870	92.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.11	gold quality
nucleus accumbens	UBERON:0001882	91.99	gold quality
neocortex	UBERON:0001950	91.70	gold quality
left testis	UBERON:0004533	91.43	gold quality
temporal lobe	UBERON:0001871	90.85	gold quality
cerebral cortex	UBERON:0000956	90.59	gold quality
right testis	UBERON:0004534	90.48	gold quality
forebrain	UBERON:0001890	90.04	gold quality
Ammon’s horn	UBERON:0001954	89.15	gold quality
telencephalon	UBERON:0001893	89.04	gold quality
islet of Langerhans	UBERON:0000006	88.45	gold quality
middle temporal gyrus	UBERON:0002771	88.41	gold quality
entorhinal cortex	UBERON:0002728	88.13	gold quality
testis	UBERON:0000473	87.84	gold quality
superior frontal gyrus	UBERON:0002661	87.73	gold quality
orbitofrontal cortex	UBERON:0004167	86.97	gold quality
caudate nucleus	UBERON:0001873	86.36	gold quality
brain	UBERON:0000955	86.15	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	534.98
E-GEOD-81608	yes	4.75
E-ENAD-27	yes	4.69
E-ANND-3	yes	4.53
E-GEOD-81547	yes	4.53
E-GEOD-83139	yes	3.93

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): WT1

miRNA regulators (miRDB)

35 targeting BAIAP3, 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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-1262	98.17	66.52	757
HSA-MIR-4701-3P	98.17	66.25	788
HSA-MIR-6736-5P	98.17	66.43	760
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-9851-5P	97.57	67.49	1067
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-3126-5P	96.87	65.83	912
HSA-MIR-6875-5P	96.87	65.49	958
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-500B-3P	96.49	65.40	1087

Literature-anchored findings (GeneRIF, showing 3)

• Baiap3 is gender specifically associated with anxiety and benzodiazepine use disorder. (PMID:23698091)
• BAIAP3 functions indirectly in dense-core vesicle exocytosis by affecting DCV maturation through its role in DCV protein recycling. (PMID:28626000)
• Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions. (PMID:33561007)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	baiap3	ENSDARG00000079264
mus_musculus	Baiap3	ENSMUSG00000047507
rattus_norvegicus	Baiap3	ENSRNOG00000017893
drosophila_melanogaster	unc-13-4A	FBGN0035756
drosophila_melanogaster	stac	FBGN0266719
caenorhabditis_elegans		WBGENE00018837

Paralogs (1): UNC13D (ENSG00000092929)

Protein

Protein identifiers

BAI1-associated protein 3 — O94812 (reviewed: O94812)

Alternative names: Brain-specific angiogenesis inhibitor I-associated protein 3

All UniProt accessions (12): O94812, A0AA34QVM2, A0AA34QVM4, A0AA34QVM8, A0AA34QVM9, A0AA34QVV4, A0AA34QVV7, A0AA34QVY1, A0AA34QVY3, A0AA34QW15, A0AA34QW16, H3BPP9

UniProt curated annotations — full annotation on UniProt →

Function. Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans-Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin. Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission.

Subunit / interactions. Interacts with ADGRB1; this interaction is direct. Interacts with endosomal SNARE proteins VAMP3, VAMP4, STX6 and STX16; this interaction is increased in the presence of calcium.

Subcellular location. Cytoplasm. Cytosol. Recycling endosome membrane. Late endosome membrane. Golgi apparatus. trans-Golgi network membrane. Cell membrane.

Tissue specificity. Predominantly expressed in brain. Also expressed in nonneural tissues such as breast and testes epithelium.

Cofactor. Binds 3 Ca(2+) ions per C2 domain.

Similarity. Belongs to the unc-13 family.

Isoforms (6)

UniProt ID	Names	Canonical?
O94812-1	1	yes
O94812-2	2
O94812-3	3
O94812-5	4
O94812-6	5
O94812-7	6

RefSeq proteins (6): NP_001186025, NP_001186026, NP_001186027, NP_001186028, NP_001273393, NP_003924 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR010439	MUN_dom	Domain
IPR014770	Munc13_1	Domain
IPR014772	Munc13_dom-2	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR052095	UNC-13_domain	Family

Pfam: PF00168, PF06292

UniProt features (35 total): binding site 16, sequence conflict 6, splice variant 5, domain 4, sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94812-F1	81.27	0.53

Functional residue map

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

Ligand- & substrate-binding residues (16): 1040; 1041; 1041; 1047; 1105; 1105; 1107; 1107; 1107; 1110; 1113; 1113 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 277 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, MODULE_92, GOBP_BEHAVIOR, GOBP_VESICLE_LOCALIZATION, MODULE_255, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, GOBP_INSULIN_SECRETION, MODULE_563, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_EXOCYTOSIS, MODULE_317, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_NEUROTRANSMITTER_TRANSPORT

GO Biological Process (10): positive regulation of neurotransmitter secretion (GO:0001956), exocytosis (GO:0006887), G protein-coupled receptor signaling pathway (GO:0007186), regulation of synaptic transmission, GABAergic (GO:0032228), positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774), retrograde transport, endosome to Golgi (GO:0042147), regulation of behavior (GO:0050795), regulation of dense core granule exocytosis (GO:1905413), dense core granule maturation (GO:1990502), modulation of chemical synaptic transmission (GO:0050804)

GO Molecular Function (6): SNARE binding (GO:0000149), calcium ion binding (GO:0005509), phospholipid binding (GO:0005543), syntaxin binding (GO:0019905), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (14): cytosol (GO:0005829), plasma membrane (GO:0005886), late endosome membrane (GO:0031902), trans-Golgi network membrane (GO:0032588), recycling endosome membrane (GO:0055038), presynapse (GO:0098793), GABA-ergic synapse (GO:0098982), secretory vesicle (GO:0099503), cytoplasm (GO:0005737), endosome (GO:0005768), late endosome (GO:0005770), Golgi apparatus (GO:0005794), membrane (GO:0016020), recycling endosome (GO:0055037)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
endosome membrane	2
synapse	2
cytoplasmic vesicle	2
endomembrane system	2
endosome	2
neurotransmitter secretion	1
regulation of neurotransmitter secretion	1
positive regulation of synaptic transmission	1
positive regulation of neurotransmitter transport	1
positive regulation of secretion by cell	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
G protein-coupled receptor activity	1
signal transduction	1
modulation of chemical synaptic transmission	1
synaptic transmission, GABAergic	1
positive regulation of insulin secretion	1
insulin secretion involved in cellular response to glucose stimulus	1
regulation of insulin secretion involved in cellular response to glucose stimulus	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
behavior	1
regulation of multicellular organismal process	1
regulation of calcium ion-dependent exocytosis	1
presynapse	1
dense core granule exocytosis	1
secretory granule maturation	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
protein binding	1
metal ion binding	1
lipid binding	1
SNARE binding	1
binding	1
cation binding	1
membrane	1

Protein interactions and networks

STRING

650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BAIAP3	ADGRB1	O14514	815
BAIAP3	IPO13	O94829	813
BAIAP3	SCTR	P47872	701
BAIAP3	BAIAP2	Q9UQB8	507
BAIAP3	STX16	O14662	504
BAIAP3	STX6	O43752	482
BAIAP3	KLHL34	Q8N239	482
BAIAP3	KCNN1	Q92952	419
BAIAP3	PSG9	Q00887	411
BAIAP3	SHANK1	Q9Y566	392
BAIAP3	RBM8A	Q9Y5S9	388
BAIAP3	GOLGA6L4	A6NEF3	373
BAIAP3	EIPR1	Q53HC9	369
BAIAP3	PSG6	Q00889	368
BAIAP3	TSPAN7	P41732	348
BAIAP3	OR2T12	Q8NG77	348

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ADGRB1	BAIAP3	psi-mi:“MI:0915”(physical association)	0.480
ADGRB1	BAIAP3	psi-mi:“MI:0914”(association)	0.480
BAIAP3	PHB1	psi-mi:“MI:0915”(physical association)	0.400
ERBB2	BAIAP3	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (9): BAIAP3 (Affinity Capture-RNA), BAIAP3 (Affinity Capture-RNA), PHB (Proximity Label-MS), BAIAP3 (Affinity Capture-RNA), BAIAP3 (Two-hybrid), BAIAP3 (Affinity Capture-Western), BAIAP3 (Co-fractionation), BAIAP3 (Co-fractionation), BAIAP3 (Co-fractionation)

ESM2 similar proteins: A0JN53, A1L3T7, C9JE40, D2I4M3, G3HQ82, O43299, O75800, O94812, P58660, Q0P5G1, Q15572, Q1RMI8, Q1W1Y5, Q3T1I9, Q3U829, Q56B11, Q571B6, Q58CQ5, Q5ND34, Q5R8S0, Q66H85, Q6NZL6, Q6ZNJ1, Q6ZQA0, Q76MJ5, Q80TE0, Q80UU1, Q80UW5, Q8BGI5, Q8BMG1, Q8C3R1, Q8C3S2, Q8C7B8, Q8CE13, Q8IZL8, Q8N163, Q8VDP4, Q8WXE1, Q96HA7, Q9BQG0

Diamond homologs: A0JJX5, A1CQG2, A1ZBD6, A2QQ28, A3KGK3, A4IFJ5, A6QQP7, A8KBH6, B1WAZ6, B8N7E5, G0S9J5, O14065, O14795, O43581, O75131, O75923, O94812, P04409, P05126, P05128, P05129, P05696, P05771, P05772, P0C869, P0C871, P10102, P10829, P13677, P17252, P20444, P21521, P27715, P29101, P41823, P41885, P46097, P46935, P49147, P63318

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	262
Likely benign	21
Benign	7

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
3243666	NC_000016.9:g.(?1398579)(1402009_?)del	Pathogenic
58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	Pathogenic
58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	Pathogenic
833445	NC_000016.9:g.(?1203718)(2185710_?)del	Pathogenic

SpliceAI

4732 predictions. Top by Δscore:

Variant	Effect	Δscore
16:1334753:GTCG:G	donor_gain	1.0000
16:1334767:G:GT	donor_gain	1.0000
16:1338989:GGT:G	donor_loss	1.0000
16:1338990:G:GA	donor_loss	1.0000
16:1338991:T:A	donor_loss	1.0000
16:1339600:GCAG:G	donor_gain	1.0000
16:1339601:CAGGT:C	donor_loss	1.0000
16:1339602:AG:A	donor_loss	1.0000
16:1339603:GG:G	donor_loss	1.0000
16:1341120:T:A	acceptor_gain	1.0000
16:1341126:CAGG:C	acceptor_loss	1.0000
16:1341127:A:AG	acceptor_gain	1.0000
16:1341127:AG:A	acceptor_gain	1.0000
16:1341127:AGG:A	acceptor_loss	1.0000
16:1341128:G:GC	acceptor_gain	1.0000
16:1341128:GG:G	acceptor_gain	1.0000
16:1341128:GGC:G	acceptor_gain	1.0000
16:1341128:GGCC:G	acceptor_gain	1.0000
16:1341128:GGCCC:G	acceptor_gain	1.0000
16:1341472:G:GT	donor_gain	1.0000
16:1341476:G:GT	donor_gain	1.0000
16:1341490:G:GG	donor_gain	1.0000
16:1342171:T:TA	acceptor_gain	1.0000
16:1342281:CGGG:C	donor_loss	1.0000
16:1342282:GG:G	donor_gain	1.0000
16:1342283:GG:G	donor_gain	1.0000
16:1342284:G:A	donor_loss	1.0000
16:1342284:G:GG	donor_gain	1.0000
16:1342285:T:G	donor_loss	1.0000
16:1342523:CCAG:C	acceptor_loss	1.0000

AlphaMissense

7487 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:1341470:T:A	W273R	0.999
16:1341470:T:C	W273R	0.999
16:1341472:G:C	W273C	0.999
16:1341472:G:T	W273C	0.999
16:1341157:T:A	V201D	0.998
16:1341299:A:C	S216R	0.998
16:1341301:C:A	S216R	0.998
16:1341301:C:G	S216R	0.998
16:1341306:C:A	P218Q	0.998
16:1341313:C:G	C220W	0.998
16:1341471:G:C	W273S	0.998
16:1341988:A:C	D295A	0.998
16:1342261:G:A	G347E	0.998
16:1341308:T:G	Y219D	0.997
16:1341465:C:A	P271H	0.997
16:1341989:T:A	D295E	0.997
16:1341989:T:G	D295E	0.997
16:1342254:T:C	F345L	0.997
16:1342256:C:A	F345L	0.997
16:1342256:C:G	F345L	0.997
16:1342260:G:A	G347R	0.997
16:1342260:G:C	G347R	0.997
16:1342260:G:T	G347W	0.997
16:1341145:T:C	L197P	0.996
16:1341175:T:A	L207H	0.996
16:1341185:G:C	K210N	0.996
16:1341185:G:T	K210N	0.996
16:1341311:T:C	C220R	0.996
16:1341312:G:A	C220Y	0.996
16:1341438:C:T	T262I	0.996

dbSNP variants (sampled 300 via entrez): RS1000119435 (16:1347075 T>C,G), RS1000150188 (16:1333850 G>T), RS1000172157 (16:1347211 G>A), RS1000410815 (16:1339167 C>A,G,T), RS1000762119 (16:1334976 C>G), RS1001002415 (16:1343834 G>A), RS1001215611 (16:1335285 C>G), RS1001316162 (16:1334359 C>G,T), RS1001327512 (16:1338736 T>G), RS1001439574 (16:1333106 G>T), RS1001517016 (16:1343611 C>T), RS1001554124 (16:1343344 A>T), RS1001664231 (16:1334204 C>G), RS1001672937 (16:1347269 G>A), RS1001715643 (16:1348964 G>A,T)

Disease associations

OMIM: gene MIM:604009 | disease phenotypes: MIM:613254

GenCC curated gene-disease

Mondo (2): long QT syndrome (MONDO:0002442), tuberous sclerosis 2 (MONDO:0013199)

Orphanet (1): Tuberous sclerosis complex (Orphanet:805)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST010002_107	Refractive error	6.000000e-18
GCST90002385_71	High light scatter reticulocyte count	2.000000e-10
GCST90002386_279	High light scatter reticulocyte percentage of red cells	3.000000e-11
GCST90002405_355	Reticulocyte count	1.000000e-09
GCST90002406_430	Reticulocyte fraction of red cells	2.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
C566021	Tuberous Sclerosis 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9597	BAIAP3, RPS20P2, UBE2I	3	3.00	1	cisplatin;irinotecan

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, increases methylation	2
Valproic Acid	increases methylation, affects expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	increases abundance, increases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	increases methylation	1
Carmustine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	increases methylation	1
Lead	affects expression	1
Manganese	increases abundance, increases expression	1
Methamphetamine	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT02201212	PHASE2	COMPLETED	Everolimus for Cancer With TSC1 or TSC2 Mutation
NCT05103358	PHASE2	ACTIVE_NOT_RECRUITING	Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT05906732	PHASE1/PHASE2	TERMINATED	Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
NCT00005176	Not specified	COMPLETED	Long QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250	Not specified	COMPLETED	Linkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367	Not specified	COMPLETED	Epidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832	Not specified	UNKNOWN	Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032	Not specified	COMPLETED	Registry of Unexplained Cardiac Arrest
NCT00335036	Not specified	TERMINATED	Pediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412	Not specified	COMPLETED	ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254	Not specified	COMPLETED	The Long QT Syndrome in Pregnancy
NCT00588965	Not specified	COMPLETED	Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects
NCT01705925	Not specified	COMPLETED	Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome
NCT01903564	Not specified	COMPLETED	Fetal and Neonatal Magnetophysiology
NCT02082431	Not specified	COMPLETED	Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02413450	Not specified	ENROLLING_BY_INVITATION	Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02425189	Not specified	COMPLETED	The Canadian National Long QT Syndrome Registry
NCT02439645	Not specified	TERMINATED	A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439658	Not specified	UNKNOWN	Genetics of QT Prolongation With Antiarrhythmics
NCT02549664	Not specified	COMPLETED	Exercise in Genetic Cardiovascular Conditions
NCT02581241	Not specified	COMPLETED	Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome
NCT02680080	Not specified	COMPLETED	Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
NCT02775513	Not specified	UNKNOWN	Metabolism of Patients With Genetically Caused Cardiac Arrhythmia
NCT02814981	Not specified	UNKNOWN	Hydroxyzine and Risk of Prolongation of QT Interval
NCT02876380	Not specified	COMPLETED	Prospective Identification of Long QT Syndrome in Fetal Life
NCT03182777	Not specified	COMPLETED	Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies
NCT03544918	Not specified	COMPLETED	Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort