ATE1

Summary

ATE1 (arginyltransferase 1, HGNC:782) is a protein-coding gene on chromosome 10q26.13, encoding Arginyl-tRNA–protein transferase 1 (O95260). Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein.

This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 11101 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital heart disease (Disputed, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 96 total — 1 pathogenic
• MANE Select transcript: NM_001001976

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:782
Approved symbol	ATE1
Name	arginyltransferase 1
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000107669
Ensembl biotype	protein_coding
OMIM	607103
Entrez	11101

Gene structure

Transcript identifiers

Ensembl transcripts: 79 — 39 protein_coding, 32 nonsense_mediated_decay, 4 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000224652, ENST00000369040, ENST00000369043, ENST00000423243, ENST00000485281, ENST00000540606, ENST00000684876, ENST00000684967, ENST00000685007, ENST00000685072, ENST00000685289, ENST00000685427, ENST00000685890, ENST00000686451, ENST00000686786, ENST00000686811, ENST00000686894, ENST00000686907, ENST00000687089, ENST00000687144, ENST00000687168, ENST00000687206, ENST00000687251, ENST00000687319, ENST00000687458, ENST00000687583, ENST00000687607, ENST00000687935, ENST00000688057, ENST00000688153, ENST00000688424, ENST00000688526, ENST00000689057, ENST00000689199, ENST00000689297, ENST00000689393, ENST00000689455, ENST00000689571, ENST00000689704, ENST00000689834, ENST00000689974, ENST00000690128, ENST00000690324, ENST00000690355, ENST00000690415, ENST00000690488, ENST00000690706, ENST00000690748, ENST00000690773, ENST00000690795, ENST00000690984, ENST00000691041, ENST00000691087, ENST00000691108, ENST00000691226, ENST00000691573, ENST00000691728, ENST00000691765, ENST00000691830, ENST00000692034, ENST00000692087, ENST00000692255, ENST00000692278, ENST00000692329, ENST00000692491, ENST00000692513, ENST00000692718, ENST00000692743, ENST00000693276, ENST00000693395, ENST00000693411, ENST00000693486, ENST00000693655, ENST00000904050, ENST00000904051, ENST00000904052, ENST00000952092, ENST00000952093, ENST00000952094

RefSeq mRNA: 5 — MANE Select: NM_001001976 NM_001001976, NM_001288734, NM_001288735, NM_001288736, NM_007041

CCDS: CCDS31299, CCDS31300, CCDS73213

Canonical transcript exons

ENST00000224652 — 12 exons

Exon	Start	End
ENSE00001775830	121790169	121790289
ENSE00001869716	121740424	121743858
ENSE00001901246	121927844	121928031
ENSE00002193875	121902391	121902620
ENSE00003464821	121870006	121870038
ENSE00003467049	121841082	121841263
ENSE00003472954	121913790	121913893
ENSE00003512370	121924266	121924329
ENSE00003563695	121836718	121836817
ENSE00003644076	121899866	121899994
ENSE00003686076	121910906	121911151
ENSE00003691131	121922349	121922411

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 95.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.2033 / max 229.6578, expressed in 1795 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111749	10.3051	1776
111750	2.7744	1424
111746	0.4469	194
111748	0.4153	219
111747	0.2617	102

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	95.30	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.93	gold quality
pigmented layer of retina	UBERON:0001782	91.86	gold quality
left ventricle myocardium	UBERON:0006566	91.86	gold quality
ileal mucosa	UBERON:0000331	91.68	gold quality
epithelial cell of pancreas	CL:0000083	91.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.49	gold quality
deltoid	UBERON:0001476	90.29	silver quality
oviduct epithelium	UBERON:0004804	89.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.77	gold quality
adrenal tissue	UBERON:0018303	89.70	gold quality
endothelial cell	CL:0000115	89.58	silver quality
mucosa of paranasal sinus	UBERON:0005030	89.02	gold quality
myocardium	UBERON:0002349	88.67	gold quality
kidney epithelium	UBERON:0004819	88.51	gold quality
calcaneal tendon	UBERON:0003701	87.48	gold quality
islet of Langerhans	UBERON:0000006	87.37	gold quality
gastrocnemius	UBERON:0001388	87.09	gold quality
corpus callosum	UBERON:0002336	87.08	gold quality
muscle of leg	UBERON:0001383	86.88	gold quality
skeletal muscle organ	UBERON:0014892	86.74	gold quality
muscle tissue	UBERON:0002385	86.57	gold quality
quadriceps femoris	UBERON:0001377	86.36	gold quality
vastus lateralis	UBERON:0001379	86.32	gold quality
rectum	UBERON:0001052	86.29	gold quality
skeletal muscle tissue	UBERON:0001134	86.13	gold quality
heart right ventricle	UBERON:0002080	85.80	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.71	gold quality
smooth muscle tissue	UBERON:0001135	85.05	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

177 targeting ATE1, 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-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
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-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6759-5P	99.99	66.54	785

Literature-anchored findings (GeneRIF, showing 8)

• Data indicate that arginyltransferase 1 (ATE1) function controls Myocardin-related transcription factor A (MRTF-A) activity. (PMID:25381249)
• Ate1 is downregulated in several types of human cancer samples at the protein level, and that its transcription level inversely correlates with metastatic progression and patient survival. (PMID:26686093)
• study revealed a novel role of Ate1 in suppressing prostate cancer metastasis, which has a profound significance for establishing metastatic indicators for prostate cancer, and for finding potential treatments to prevent its metastasis. (PMID:30177837)
• Multiple competing RNA structures dynamically control alternative splicing in the human ATE1 gene. (PMID:33330934)
• ATE1 Inhibits Liver Cancer Progression through RGS5-Mediated Suppression of Wnt/beta-Catenin Signaling. (PMID:34158395)
• Arginyl-tRNA-protein transferase 1 contributes to governing optimal stability of the human immunodeficiency virus type 1 core. (PMID:34565409)
• The Final Maturation State of beta-actin Involves N-terminal Acetylation by NAA80, not N-terminal Arginylation by ATE1. (PMID:34896361)
• Arginyltransferase 1 (ATE1)-mediated proteasomal degradation of viral haemagglutinin protein: a unique host defence mechanism. (PMID:39207120)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ATE1	ENSDARG00000103813
mus_musculus	Ate1	ENSMUSG00000030850
rattus_norvegicus	Ate1	ENSRNOG00000024414
drosophila_melanogaster	Ate1	FBGN0025720
caenorhabditis_elegans	ate-1	WBGENE00010615

Protein

Protein identifiers

Arginyl-tRNA–protein transferase 1 — O95260 (reviewed: O95260)

Alternative names: Arginine-tRNA–protein transferase 1

All UniProt accessions (43): O95260, A0A8I5KNT9, A0A8I5KNV5, A0A8I5KP66, A0A8I5KQ75, A0A8I5KQS6, A0A8I5KQW8, A0A8I5KR11, A0A8I5KS65, A0A8I5KSC8, A0A8I5KSP7, A0A8I5KSU2, A0A8I5KT53, A0A8I5KTG4, A0A8I5KTH0, A0A8I5KU86, A0A8I5KUJ8, A0A8I5KVF5, A0A8I5KVR2, A0A8I5KW01, A0A8I5KWA6, A0A8I5KWF1, A0A8I5KWU7, A0A8I5KX41, A0A8I5KX52, A0A8I5KX91, A0A8I5KXB4, A0A8I5KXC6, A0A8I5KXF6, A0A8I5KXU0, A0A8I5KY27, A0A8I5KYL1, A0A8I5KZ10, A0A8I5KZ24, A0A8I5KZ28, A0A8I5QJC4, A0A8I5QJQ8, A0A8I5QKM5, A0A8I5QKV3, A0A8I5QKZ7, F5GXE4, F8WAC9, H0Y5C2

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues.

Subunit / interactions. Monomer. Interacts with LIAT1; LIAT1 is not a substrate of ATE1, the interaction takes place in the cytoplasm and seems to increase ATE1 arginyltransferase activity.

Subcellular location. Nucleus. Cytoplasm.

Similarity. Belongs to the R-transferase family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95260-1	ATE1-1	yes
O95260-2	ATE1-2

RefSeq proteins (5): NP_001001976, NP_001275663, NP_001275664, NP_001275665, NP_008972 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007471	N-end_Aminoacyl_Trfase_N	Domain
IPR007472	N-end_Aminoacyl_Trfase_C	Domain
IPR016181	Acyl_CoA_acyltransferase	Homologous_superfamily
IPR017137	Arg-tRNA-P_Trfase_1_euk	Family
IPR030700	N-end_Aminoacyl_Trfase	Family

Pfam: PF04376, PF04377

Enzyme classification (BRENDA):

• EC 2.3.2.8 — arginyltransferase (BRENDA: 17 organisms, 83 substrates, 28 inhibitors, 2 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ARGINYL-TRNA	0.0005	1
N-L-ASPARTYL-N’-DANSYLAMIDO-1,4-BUTANEDIAMINE	0.03	1
L-ARGINYL-TRNA	—	0

Catalyzed reactions (Rhea), 1 shown:

• an N-terminal L-alpha-aminoacyl-[protein] + L-arginyl-tRNA(Arg) = an N-terminal L-arginyl-L-aminoacyl-[protein] + tRNA(Arg) + H(+) (RHEA:10208)

UniProt features (38 total): strand 13, helix 13, turn 7, chain 1, region of interest 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8TZV	ELECTRON MICROSCOPY	2.8
8UAU	ELECTRON MICROSCOPY	5.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95260-F1	80.56	0.62

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): 169

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): E2F_Q4_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, E2F_Q3, MCAATNNNNNGCG_UNKNOWN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, YY1_02, MODULE_480, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, E2F1_Q3, DOUGLAS_BMI1_TARGETS_UP, EGR1_01, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS

GO Biological Process (8): ubiquitin-dependent protein catabolic process (GO:0006511), response to oxidative stress (GO:0006979), proteasomal protein catabolic process (GO:0010498), protein arginylation (GO:0016598), ubiquitin-dependent protein catabolic process via the N-end rule pathway (GO:0071596), protein K27-linked ubiquitination (GO:0044314), protein K63-linked ubiquitination (GO:0070534), protein targeting to vacuole involved in autophagy (GO:0071211)

GO Molecular Function (4): arginyl-tRNA–protein transferase activity (GO:0004057), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein polyubiquitination	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
response to stress	1
protein catabolic process	1
ubiquitin-dependent protein catabolic process	1
protein modification process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
protein targeting to vacuole	1
autophagy	1
aminoacyltransferase activity	1
catalytic activity, acting on a protein	1
catalytic activity, acting on a tRNA	1
binding	1
catalytic activity	1
transferase activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1054 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATE1	RGS4	P49798	763
ATE1	RGS16	O15492	745
ATE1	UBR1	Q8IWV7	729
ATE1	NTAQ1	Q96HA8	728
ATE1	UBR2	Q8IWV8	725
ATE1	ACTG1	P02571	692
ATE1	ACTB	P02570	688
ATE1	UBR4	Q5T4S7	663
ATE1	NTAN1	Q96AB6	616
ATE1	NAA80	Q93015	585
ATE1	UBR5	O95071	559
ATE1	DYNLL1	P63167	542
ATE1	LIAT1	Q6ZQX7	504
ATE1	MYH1	P12882	491
ATE1	RGS11	O94810	437

IntAct

132 interactions, top by confidence:

A	B	Type	Score
COPRS	PRMT5	psi-mi:“MI:0914”(association)	0.770
MAPK8	WDR62	psi-mi:“MI:0914”(association)	0.730
QKI	RBFOX2	psi-mi:“MI:0914”(association)	0.720
TOB1	CNOT1	psi-mi:“MI:0914”(association)	0.710
rep	MPHOSPH10	psi-mi:“MI:0914”(association)	0.660
rep	ATE1	psi-mi:“MI:0914”(association)	0.640
POU2AF1	ATE1	psi-mi:“MI:0915”(physical association)	0.590
HLA-DQB2	POTEF	psi-mi:“MI:0914”(association)	0.530
BMERB1	DCTN6	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
GAST	ZZEF1	psi-mi:“MI:0914”(association)	0.530
GPR37	ATE1	psi-mi:“MI:0914”(association)	0.530
RAB5A	ATE1	psi-mi:“MI:0914”(association)	0.530
P2RX1	ATE1	psi-mi:“MI:0914”(association)	0.530
CLDN10	ATE1	psi-mi:“MI:0914”(association)	0.530
RAB7B	ATE1	psi-mi:“MI:0914”(association)	0.530
DPH3	ATE1	psi-mi:“MI:0914”(association)	0.530
CNN2	ATE1	psi-mi:“MI:0914”(association)	0.530
REG4	ATE1	psi-mi:“MI:0914”(association)	0.530
AVP	ATE1	psi-mi:“MI:0914”(association)	0.530

BioGRID (124): ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ATE1 (Affinity Capture-MS)

ESM2 similar proteins: E1BGQ2, O54804, O94888, O95260, O95453, P0C0T1, P42694, P54198, P69341, P97679, Q0VGM9, Q2PFX0, Q3UNW5, Q4V8I4, Q5BJZ6, Q5RC51, Q5REY7, Q5RJZ1, Q5T6S3, Q5ZIA0, Q61666, Q6DC64, Q6DDJ3, Q6DFV5, Q6DJB3, Q6GR37, Q6H1L8, Q6IE70, Q6PD10, Q7SXS7, Q7Z624, Q80UY1, Q86W50, Q8BGF7, Q8BYN3, Q8CIW5, Q8NHH1, Q8VDG3, Q922P9, Q92551

Diamond homologs: A0K730, A0KJD9, A1U1G9, A1V4A4, A1W023, A2S373, A3M311, A3MJ99, A3N926, A3NUS2, A4G7T6, A4JE23, A4SNL5, A4SWU6, A4VLV4, A4XUY1, A6T105, A6U7N6, A7H303, A8FM84, A8HXU1, A9AJX3, A9BME3, B0V8X8, B0VTF8, B1K0S5, B1XV76, B1YPI7, B2HUQ9, B2UFW5, B3PL52, B4E8N5, B7I7S8, B8GVD8, B9JV68, C5CYP5, O95260, O96539, P16639, P59794

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATE1	“down-regulates quantity by destabilization”	HSPA5	“post transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	73
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59729	GRCh38/hg38 10q26.13(chr10:121507745-121870082)x3	Pathogenic

SpliceAI

3655 predictions. Top by Δscore:

Variant	Effect	Δscore
10:121743854:ATCCA:A	acceptor_gain	1.0000
10:121743855:TCCA:T	acceptor_gain	1.0000
10:121743856:CCA:C	acceptor_gain	1.0000
10:121743856:CCAC:C	acceptor_gain	1.0000
10:121743857:CA:C	acceptor_gain	1.0000
10:121743857:CAC:C	acceptor_gain	1.0000
10:121743858:AC:A	acceptor_loss	1.0000
10:121743859:C:CC	acceptor_gain	1.0000
10:121743859:CTGCA:C	acceptor_loss	1.0000
10:121790164:CATA:C	donor_loss	1.0000
10:121790165:ATAC:A	donor_loss	1.0000
10:121790166:TA:T	donor_loss	1.0000
10:121790167:A:T	donor_loss	1.0000
10:121790168:CCTG:C	donor_gain	1.0000
10:121870073:A:T	acceptor_gain	1.0000
10:121870079:C:CT	acceptor_gain	1.0000
10:121870080:A:T	acceptor_gain	1.0000
10:121870084:G:T	acceptor_gain	1.0000
10:121870086:C:CT	acceptor_gain	1.0000
10:121870087:A:T	acceptor_gain	1.0000
10:121870096:C:CT	acceptor_gain	1.0000
10:121870098:C:CT	acceptor_gain	1.0000
10:121899683:A:C	donor_gain	1.0000
10:121899993:ACCT:A	acceptor_loss	1.0000
10:121899994:CCT:C	acceptor_loss	1.0000
10:121900005:A:T	acceptor_gain	1.0000
10:121910932:A:C	donor_gain	1.0000
10:121910967:T:A	donor_gain	1.0000
10:121910995:T:TA	donor_gain	1.0000
10:121911149:CAT:C	acceptor_gain	1.0000

AlphaMissense

3405 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:121836718:C:A	K419N	1.000
10:121836718:C:G	K419N	1.000
10:121924273:A:G	W55R	1.000
10:121924273:A:T	W55R	1.000
10:121924278:C:G	R53P	1.000
10:121841082:C:G	R386P	0.999
10:121841085:A:G	L385P	0.999
10:121841149:A:G	S364P	0.999
10:121841163:A:G	L359P	0.999
10:121841169:T:A	D357V	0.999
10:121841169:T:C	D357G	0.999
10:121841169:T:G	D357A	0.999
10:121841170:C:G	D357H	0.999
10:121841184:G:T	A352D	0.999
10:121841185:C:G	A352P	0.999
10:121870027:G:C	F318L	0.999
10:121870027:G:T	F318L	0.999
10:121870029:A:G	F318L	0.999
10:121922352:A:T	I77K	0.999
10:121922411:T:A	R57S	0.999
10:121922411:T:G	R57S	0.999
10:121924266:C:G	R57T	0.999
10:121924275:C:T	G54E	0.999
10:121924287:A:G	L50P	0.999
10:121790244:A:G	W435R	0.998
10:121790244:A:T	W435R	0.998
10:121790262:A:G	C429R	0.998
10:121790267:A:G	L427S	0.998
10:121836756:C:G	G407R	0.998
10:121841170:C:A	D357Y	0.998

dbSNP variants (sampled 300 via entrez): RS1000027516 (10:121835377 C>T), RS1000032107 (10:121912343 T>A), RS1000039739 (10:121783384 C>T), RS1000049246 (10:121740752 T>C), RS1000086373 (10:121762369 G>C), RS1000098673 (10:121867729 G>A), RS1000104555 (10:121848414 C>T), RS1000110686 (10:121907184 G>A), RS1000137094 (10:121872091 G>A,C), RS1000145791 (10:121880316 T>A,C), RS1000170680 (10:121879905 A>C), RS1000204353 (10:121799166 G>A), RS1000225197 (10:121839227 T>C), RS1000246972 (10:121895099 A>G), RS1000262936 (10:121866378 GTAA>G)

Disease associations

OMIM: gene MIM:607103 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital heart disease	Disputed Evidence	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital heart disease	Disputed	AR

Mondo (1): congenital heart disease (MONDO:0005453)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007576_162	Chronotype	4.000000e-09
GCST007576_437	Chronotype	4.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	2
Acrolein	affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Ozone	affects cotreatment, decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
bisphenol S	affects cotreatment, increases methylation	1
(+)-JQ1 compound	decreases expression	1
Bortezomib	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1
Volatile Organic Compounds	affects cotreatment, decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B5JK	HAP1 ATE1 (-) 2	Cancer cell line	Male
CVCL_D8ZJ	Ubigene HEK293 ATE1 KO	Transformed cell line	Female
CVCL_XL64	HAP1 ATE1 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262	PHASE3	COMPLETED	Intraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137	PHASE3	COMPLETED	Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476	PHASE3	COMPLETED	Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194	PHASE3	COMPLETED	Dopamine Versus Norepinephrine Under General Anesthesia
NCT04702373	PHASE3	ACTIVE_NOT_RECRUITING	Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590	PHASE3	COMPLETED	Acute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517	PHASE3	UNKNOWN	Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674	PHASE3	RECRUITING	Effect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260	PHASE3	NOT_YET_RECRUITING	SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT00115375	PHASE2	COMPLETED	Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO)
NCT00350220	PHASE2	COMPLETED	Transfusion Strategies in Pediatric Cardiothoracic Surgery
NCT00374088	PHASE2	COMPLETED	N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
NCT00538785	PHASE2	COMPLETED	A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease
NCT00770705	PHASE2	WITHDRAWN	Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery
NCT00919945	PHASE2	TERMINATED	Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn
NCT01063712	PHASE2	COMPLETED	Safety and Effectiveness of the Device Nit-Occlud® PDA-R
NCT01069510	PHASE2	COMPLETED	Spironolactone in Adult Congenital Heart Disease
NCT01189981	PHASE2	COMPLETED	Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease
NCT01330433	PHASE2	COMPLETED	Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery
NCT01662037	PHASE2	COMPLETED	Bosentan Therapy in Children With Functional Single Ventricle
NCT01668264	PHASE2	UNKNOWN	Imaging Assessment of Diastolic Function
NCT01827059	PHASE2	UNKNOWN	Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE