AAR2

Summary

AAR2 (AAR2 splicing factor, HGNC:15886) is a protein-coding gene on chromosome 20q11.23, encoding Protein AAR2 homolog (Q9Y312). Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing.

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene.

Source: NCBI Gene 25980 — RefSeq curated summary.

At a glance

• Gene–disease (curated): multiple congenital anomalies/dysmorphic syndrome (Limited, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 73 total — 5 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 3
• MANE Select transcript: NM_001271874

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15886
Approved symbol	AAR2
Name	AAR2 splicing factor
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	bA234K24.2
Ensembl gene	ENSG00000131043
Ensembl biotype	protein_coding
OMIM	617365
Entrez	25980

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 24 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000320849, ENST00000373932, ENST00000397286, ENST00000679519, ENST00000679667, ENST00000680185, ENST00000680247, ENST00000680412, ENST00000680639, ENST00000680811, ENST00000680933, ENST00000681771, ENST00000873086, ENST00000873087, ENST00000873088, ENST00000873089, ENST00000873090, ENST00000921595, ENST00000921596, ENST00000921597, ENST00000921598, ENST00000921599, ENST00000921600, ENST00000957173, ENST00000957174, ENST00000957175, ENST00000957176

RefSeq mRNA: 2 — MANE Select: NM_001271874 NM_001271874, NM_015511

CCDS: CCDS13273

Canonical transcript exons

ENST00000320849 — 4 exons

Exon	Start	End
ENSE00000661758	36244697	36244926
ENSE00000860355	36239821	36240625
ENSE00001413579	36236478	36236503
ENSE00001902927	36255578	36256933

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 90.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8875 / max 57.5152, expressed in 1798 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184385	13.9907	1793
184387	0.7348	469
184386	0.1620	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus muscularis layer	UBERON:0035833	90.82	gold quality
lower esophagus	UBERON:0013473	90.80	gold quality
smooth muscle tissue	UBERON:0001135	90.69	gold quality
popliteal artery	UBERON:0002250	90.01	gold quality
tibial artery	UBERON:0007610	90.00	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.42	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.26	gold quality
aorta	UBERON:0000947	88.96	gold quality
right adrenal gland cortex	UBERON:0035827	88.88	gold quality
right coronary artery	UBERON:0001625	88.69	gold quality
right adrenal gland	UBERON:0001233	88.62	gold quality
pancreatic ductal cell	CL:0002079	88.60	silver quality
islet of Langerhans	UBERON:0000006	88.51	gold quality
type B pancreatic cell	CL:0000169	88.50	gold quality
left coronary artery	UBERON:0001626	88.45	gold quality
descending thoracic aorta	UBERON:0002345	88.43	gold quality
coronary artery	UBERON:0001621	88.16	gold quality
left uterine tube	UBERON:0001303	88.07	gold quality
olfactory bulb	UBERON:0002264	88.05	gold quality
body of stomach	UBERON:0001161	88.01	gold quality
left adrenal gland	UBERON:0001234	87.96	gold quality
mucosa of stomach	UBERON:0001199	87.93	gold quality
skin of leg	UBERON:0001511	87.90	gold quality
thoracic aorta	UBERON:0001515	87.70	gold quality
left adrenal gland cortex	UBERON:0035825	87.64	gold quality
stromal cell of endometrium	CL:0002255	87.63	gold quality
ascending aorta	UBERON:0001496	87.50	gold quality
gastrocnemius	UBERON:0001388	87.48	gold quality
adrenal cortex	UBERON:0001235	87.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.35
E-MTAB-4850	no	953.26

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NACC1, SPI1, TP53

miRNA regulators (miRDB)

51 targeting AAR2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-2392	99.43	67.50	708
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-6830-5P	99.01	68.73	1884

Literature-anchored findings (GeneRIF, showing 2)

• Arabidopsis AAR2, a conserved splicing factor in eukaryotes, acts in microRNA biogenesis. (PMID:36191209)
• Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8. (PMID:36322420)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	aar2	ENSDARG00000018658
mus_musculus	Aar2	ENSMUSG00000027628
rattus_norvegicus	Aar2	ENSRNOG00000020086
drosophila_melanogaster	CG12320	FBGN0038590
caenorhabditis_elegans		WBGENE00008639

Protein

Protein identifiers

Protein AAR2 homolog — Q9Y312 (reviewed: Q9Y312)

Alternative names: AAR2 splicing factor homolog

All UniProt accessions (4): Q9Y312, A0A7P0T8J7, A0A7P0TA70, A2A2Q9

UniProt curated annotations — full annotation on UniProt →

Function. Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing.

Subunit / interactions. Interacts with PRPF8 (via RNase H homology domain). Component of a U5 snRNP complex that contains PRPF8.

Similarity. Belongs to the AAR2 family.

RefSeq proteins (2): NP_001258803, NP_056326 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007946	AAR2	Family
IPR033647	Aar2_N	Domain
IPR033648	AAR2_C	Domain
IPR038514	AAR2_C_sf	Homologous_superfamily
IPR038516	AAR2_N_sf	Homologous_superfamily

Pfam: PF05282, PF20981

UniProt features (39 total): helix 16, strand 10, sequence conflict 8, initiator methionine 1, chain 1, modified residue 1, turn 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7PJH	X-RAY DIFFRACTION	2.35

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y312-F1	89.74	0.72

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 (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 119 (showing top): NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, CEBPB_01, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, TTGGAGA_MIR5155P_MIR519E, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, GCM_NF2, chr20q11, MODULE_207, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, LIAN_LIPA_TARGETS_3M

GO Biological Process (3): spliceosomal tri-snRNP complex assembly (GO:0000244), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): spliceosomal complex (GO:0005681), U5 snRNP (GO:0005682)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
spliceosomal snRNP assembly	1
mRNA metabolic process	1
binding	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
spliceosomal snRNP complex	1

Protein interactions and networks

STRING

2152 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AAR2	EFTUD2	Q15029	916
AAR2	SNRNP200	O75643	907
AAR2	PRPF8	Q6P2Q9	814
AAR2	ZNHIT2	Q9UHR6	748
AAR2	CD2BP2	O95400	689
AAR2	ECD	O95905	672
AAR2	COPS5	Q92905	647
AAR2	NCDN	Q9UBB6	611
AAR2	PRPF6	O94906	605
AAR2	DDX23	Q9BUQ8	593
AAR2	TXNL4A	P83876	569
AAR2	RUVBL2	Q9Y230	564
AAR2	RUVBL1	P82276	559
AAR2	PRPF31	Q8WWY3	549
AAR2	PIH1D1	Q9NWS0	539
AAR2	SNU13	P55769	539

IntAct

77 interactions, top by confidence:

A	B	Type	Score
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
SMARCC2	ARID1A	psi-mi:“MI:0914”(association)	0.790
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
AAR2	EAPP	psi-mi:“MI:0915”(physical association)	0.660
	PMPCB	psi-mi:“MI:0914”(association)	0.640
PRPF8	PRPF4	psi-mi:“MI:0914”(association)	0.640
DDX23	PRPF4	psi-mi:“MI:0914”(association)	0.640
EFTUD2	SART1	psi-mi:“MI:0914”(association)	0.610
AAR2	SNRNP200	psi-mi:“MI:0914”(association)	0.530
KIAA1143	AQR	psi-mi:“MI:0914”(association)	0.530
EAPP	SNRNP200	psi-mi:“MI:0914”(association)	0.530
EFTUD2	AQR	psi-mi:“MI:0914”(association)	0.530
ECD	SNRNP200	psi-mi:“MI:0914”(association)	0.530
KLHL36	HSPA8	psi-mi:“MI:0914”(association)	0.530
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
SNRPE	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRPN	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRNP40	AQR	psi-mi:“MI:0914”(association)	0.530
DDX23	SNRNP200	psi-mi:“MI:0914”(association)	0.530
Cdk1		psi-mi:“MI:0915”(physical association)	0.400

BioGRID (777): AAR2 (Affinity Capture-MS), AAR2 (Affinity Capture-MS), AAR2 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), TTC5 (Affinity Capture-MS), GHDC (Affinity Capture-MS), ECD (Affinity Capture-MS), NCDN (Affinity Capture-MS), SLC7A6OS (Affinity Capture-MS), MICA (Affinity Capture-MS), ZNHIT2 (Affinity Capture-MS), KLHL36 (Affinity Capture-MS), EAPP (Two-hybrid)

ESM2 similar proteins: A0AUR5, A0JNG7, A2VE39, A5PKL6, A8MYZ0, B0BM95, B0V3H4, B5DG51, D2HRF1, O02697, P48736, P60670, Q0IIH8, Q4KLT3, Q4R4D7, Q4R528, Q4R6Y8, Q4R760, Q4V8W7, Q5R981, Q5RBW9, Q5RL51, Q5U2Z5, Q5XH30, Q68EP9, Q6NX27, Q7ZYP6, Q803A6, Q803R5, Q80V94, Q811C2, Q8CD92, Q8CDM8, Q8K4M9, Q8N1G2, Q8NEC7, Q8R3N6, Q8TAT6, Q8VDY4, Q91WR3

Diamond homologs: O77682, Q08DJ7, Q09305, Q4R7D0, Q5R5N9, Q9D2V5, Q9Y312

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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
Metabolism of non-coding RNA	6	64.5×	2e-08
mRNA Splicing - Minor Pathway	11	41.8×	2e-13
snRNP Assembly	7	25.1×	6e-07
SARS-CoV-2 modulates host translation machinery	6	22.8×	9e-06
mRNA Splicing	11	20.5×	5e-10
mRNA Splicing - Major Pathway	19	17.6×	1e-16
Processing of Capped Intron-Containing Pre-mRNA	11	15.3×	8e-09
The role of GTSE1 in G2/M progression after G2 checkpoint	5	13.6×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal snRNP assembly	9	69.7×	1e-12
RNA splicing, via transesterification reactions	6	49.9×	2e-07
U2-type prespliceosome assembly	5	41.6×	1e-05
mRNA splicing, via spliceosome	19	23.2×	2e-18
RNA splicing	13	15.3×	4e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	56
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	Pathogenic
146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	Pathogenic
443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	Pathogenic
59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	Pathogenic
689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	Pathogenic
1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	Likely pathogenic
242897	NM_001271874.2(AAR2):c.520G>A (p.Val174Met)	Likely pathogenic

SpliceAI

761 predictions. Top by Δscore:

Variant	Effect	Δscore
20:36239819:A:AG	acceptor_gain	1.0000
20:36239819:A:T	acceptor_loss	1.0000
20:36239819:AGCT:A	acceptor_gain	1.0000
20:36239820:G:GA	acceptor_gain	1.0000
20:36239820:GC:G	acceptor_gain	1.0000
20:36239820:GCT:G	acceptor_gain	1.0000
20:36239820:GCTG:G	acceptor_gain	1.0000
20:36239820:GCTGT:G	acceptor_gain	1.0000
20:36240616:G:GT	donor_gain	1.0000
20:36244692:TTCA:T	acceptor_loss	1.0000
20:36244694:CAG:C	acceptor_loss	1.0000
20:36244695:AGGT:A	acceptor_gain	1.0000
20:36244696:GGT:G	acceptor_gain	1.0000
20:36244696:GGTG:G	acceptor_gain	1.0000
20:36244925:AGG:A	donor_loss	1.0000
20:36244926:GGTGA:G	donor_loss	1.0000
20:36244928:T:G	donor_loss	1.0000
20:36236500:GGCG:G	donor_gain	0.9900
20:36236501:GCGG:G	donor_gain	0.9900
20:36236783:G:GG	donor_gain	0.9900
20:36239816:CTCAG:C	acceptor_gain	0.9900
20:36239817:TCAG:T	acceptor_gain	0.9900
20:36239818:CAGCT:C	acceptor_gain	0.9900
20:36239819:AGCTG:A	acceptor_gain	0.9900
20:36239822:T:A	acceptor_gain	0.9900
20:36240621:GCTTG:G	donor_gain	0.9900
20:36240622:CTTGG:C	donor_loss	0.9900
20:36240623:TTGGT:T	donor_loss	0.9900
20:36240624:TGGT:T	donor_loss	0.9900
20:36240626:G:A	donor_loss	0.9900

AlphaMissense

2542 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:36240265:T:A	W133R	0.999
20:36240265:T:C	W133R	0.999
20:36240001:T:C	F45L	0.998
20:36240003:C:A	F45L	0.998
20:36240003:C:G	F45L	0.998
20:36240034:C:G	H56D	0.998
20:36244759:T:A	W274R	0.998
20:36244759:T:C	W274R	0.998
20:36255654:T:C	L355P	0.998
20:36240241:T:G	Y125D	0.997
20:36244703:T:C	L255P	0.997
20:36255671:T:A	W361R	0.997
20:36255671:T:C	W361R	0.997
20:36240007:G:C	G47R	0.996
20:36240008:G:A	G47D	0.996
20:36240015:G:C	K49N	0.996
20:36240015:G:T	K49N	0.996
20:36244714:T:C	F259L	0.996
20:36244716:T:A	F259L	0.996
20:36244716:T:G	F259L	0.996
20:36244720:T:C	C261R	0.996
20:36244761:G:C	W274C	0.996
20:36244761:G:T	W274C	0.996
20:36244905:C:A	N322K	0.996
20:36244905:C:G	N322K	0.996
20:36244910:T:A	L324H	0.996
20:36239971:G:C	D35H	0.995
20:36240002:T:C	F45S	0.995
20:36240094:G:C	G76R	0.995
20:36240267:G:C	W133C	0.995

dbSNP variants (sampled 300 via entrez): RS1000014282 (20:36256446 C>T), RS1000142299 (20:36237378 G>A,C), RS1000231495 (20:36253374 A>G), RS1000680916 (20:36244509 G>A), RS1000962831 (20:36246282 C>T), RS1001065492 (20:36247518 CTT>C), RS1001115790 (20:36244783 T>G), RS1001340116 (20:36240749 T>C), RS1001472021 (20:36252405 C>G,T), RS1001574383 (20:36238406 C>G), RS1001610059 (20:36243597 T>A), RS1001818010 (20:36252646 C>T), RS1002096307 (20:36237044 A>G), RS1002180324 (20:36240113 A>C,T), RS1002279726 (20:36247122 T>C)

Disease associations

OMIM: gene MIM:617365 | disease phenotypes: MIM:614429

GenCC curated gene-disease

Disease	Classification	Inheritance
multiple congenital anomalies/dysmorphic syndrome	Limited	Autosomal recessive

Mondo (4): microcephaly (MONDO:0001149), ventricular septal defect (MONDO:0002070), patent foramen ovale (MONDO:0020439), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042)

Orphanet (3): Cerebellar malformation (Orphanet:182061), NON RARE IN EUROPE: Ventricular septal defect (Orphanet:1480), NON RARE IN EUROPE: Patent foramen ovale (Orphanet:99108)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000252	Microcephaly
HP:0001629	Ventricular septal defect
HP:0001655	Patent foramen ovale

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001762_220	Obesity-related traits	4.000000e-06
GCST010002_66	Refractive error	2.000000e-20
GCST012227_1105	Hip circumference adjusted for BMI	2.000000e-11
GCST90020029_197	Waist circumference adjusted for body mass index	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0003940	physical activity
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D054092	Foramen Ovale, Patent	C14.240.400.560.375.258; C14.280.400.560.375.258; C16.131.240.400.560.375.258
D006345	Heart Septal Defects, Ventricular	C14.240.400.560.540; C14.280.400.560.540; C16.131.240.400.560.540
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
aristolochic acid I	increases expression	1
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	decreases expression	1
cobaltous chloride	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
bisphenol S	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	decreases expression	1
Arsenic	increases methylation	1
Benzene	increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Phthalic Acids	decreases methylation	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1IC	HAP1 AAR2 (-) 1	Cancer cell line	Male
CVCL_E1ID	HAP1 AAR2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02914652	PHASE4	COMPLETED	The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects.
NCT05688670	PHASE4	COMPLETED	Regional Anesthesia Following Pediatric Cardiac Surgery
NCT00697151	PHASE4	COMPLETED	Patent Foramen Ovale in Cryptogenic Stroke Study
NCT01550588	PHASE4	UNKNOWN	Device Closure Versus Medical Therapy for Cryptogenic Stroke Patients With High-Risk Patent Foramen Ovale (DEFENSE-PFO)
NCT05561660	PHASE4	UNKNOWN	COMParison of the EffecT of dEvice Closure in Alleviating Migraine With PFO (COMPETE-2)
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00113698	PHASE3	TERMINATED	Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation
NCT05253209	PHASE3	TERMINATED	A Study Evaluating the Efficacy and Safety of IV L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects
NCT00562289	PHASE3	COMPLETED	Patent Foramen Ovale Closure or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence
NCT01333761	PHASE3	TERMINATED	Cardiox Shunt Detection Technology Study
NCT01773252	PHASE3	TERMINATED	Right to Left Cardiac Shunt Detection
NCT05213104	PHASE3	ACTIVE_NOT_RECRUITING	Assessment of Flecainide to Lower the Patent Foramen Ovale Closure Risk of Atrial Arrhythmia or Tachycardia
NCT05387954	PHASE3	RECRUITING	PFO Closure, Oral Anticoagulants or Antiplatelet Therapy After PFO-associated Stroke in Patients Aged 60 to 80 Years
NCT00199771	PHASE2	COMPLETED	Hypertonic Saline Dextran in Pediatric Cardiac Surgery
NCT00556361	PHASE2	COMPLETED	Use of Ketamine Prior to Cardiopulmonary Bypass in Children
NCT00848393	PHASE2	COMPLETED	Measures to Lower the Stress Response in Pediatric Cardiac Surgery
NCT04017975	PHASE2	ACTIVE_NOT_RECRUITING	Optical Tissue Identification for Myocardial Architecture
NCT00505570	PHASE2	TERMINATED	PRIMA PFO Migraine Trial
NCT02378623	PHASE2	WITHDRAWN	Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli
NCT02777359	PHASE2	UNKNOWN	Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches
NCT05546320	PHASE2	COMPLETED	Comparison of the Effect of Medication Therapy in Alleviating Migraine With Patent Foramen Ovale
NCT01825369	PHASE1	WITHDRAWN	Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow
NCT01915277	PHASE1	COMPLETED	A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687	Not specified	COMPLETED	Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594	Not specified	TERMINATED	Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175	Not specified	COMPLETED	Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980	Not specified	COMPLETED	Summary of Infants Weighing 500 Grams or Less
NCT06019182	Not specified	RECRUITING	MEHMO Natural History and Biomarkers
NCT06566066	Not specified	RECRUITING	Register for Patients With Thyroid Hormone Resistance.