ENTPD7

Summary

ENTPD7 (ectonucleoside triphosphate diphosphohydrolase 7, HGNC:19745) is a protein-coding gene on chromosome 10q24.2, encoding Ectonucleoside triphosphate diphosphohydrolase 7 (Q9NQZ7). Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner.

This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence.

Source: NCBI Gene 57089 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_020354

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19745
Approved symbol	ENTPD7
Name	ectonucleoside triphosphate diphosphohydrolase 7
Location	10q24.2
Locus type	gene with protein product
Status	Approved
Aliases	LALP1, FLJ30978
Ensembl gene	ENSG00000198018
Ensembl biotype	protein_coding
OMIM	616753
Entrez	57089

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000370489, ENST00000472998, ENST00000902359, ENST00000902360, ENST00000902361, ENST00000902362, ENST00000923207, ENST00000956595

RefSeq mRNA: 3 — MANE Select: NM_020354 NM_001349962, NM_001349963, NM_020354

CCDS: CCDS7480

Canonical transcript exons

ENST00000370489 — 13 exons

Exon	Start	End
ENSE00000502395	99661446	99661628
ENSE00000502397	99679725	99679875
ENSE00000502398	99685792	99685895
ENSE00000502402	99698534	99698858
ENSE00000502403	99700973	99701058
ENSE00000613576	99679261	99679466
ENSE00000719539	99688694	99688750
ENSE00000719541	99691385	99691518
ENSE00000719543	99695956	99696122
ENSE00000719571	99702512	99702673
ENSE00001020139	99659509	99659588
ENSE00001452848	99704452	99711241
ENSE00001452859	99659862	99659964

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 97.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7879 / max 255.1503, expressed in 1783 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106497	10.7879	1783

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	97.18	gold quality
buccal mucosa cell	CL:0002336	89.02	gold quality
duodenum	UBERON:0002114	85.65	gold quality
adrenal tissue	UBERON:0018303	83.83	gold quality
ileal mucosa	UBERON:0000331	83.47	gold quality
sperm	CL:0000019	83.06	gold quality
secondary oocyte	CL:0000655	81.19	gold quality
male germ cell	CL:0000015	80.81	silver quality
cartilage tissue	UBERON:0002418	79.15	gold quality
stromal cell of endometrium	CL:0002255	78.88	gold quality
mucosa of sigmoid colon	UBERON:0004993	78.58	gold quality
colonic mucosa	UBERON:0000317	78.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.17	gold quality
islet of Langerhans	UBERON:0000006	77.64	gold quality
body of pancreas	UBERON:0001150	77.32	gold quality
bone marrow cell	CL:0002092	77.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	76.95	gold quality
pancreas	UBERON:0001264	76.86	gold quality
bone marrow	UBERON:0002371	76.83	gold quality
urinary bladder	UBERON:0001255	75.56	gold quality
gall bladder	UBERON:0002110	75.27	gold quality
rectum	UBERON:0001052	74.26	gold quality
palpebral conjunctiva	UBERON:0001812	74.20	gold quality
bronchial epithelial cell	CL:0002328	74.00	gold quality
trabecular bone tissue	UBERON:0002483	73.97	silver quality
esophagus mucosa	UBERON:0002469	73.32	gold quality
placenta	UBERON:0001987	73.08	gold quality
endothelial cell	CL:0000115	72.83	gold quality
monocyte	CL:0000576	72.81	gold quality
adrenal gland	UBERON:0002369	72.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	43.79
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

289 targeting ENTPD7, 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-1252-5P	100.00	69.80	2774
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3688-3P	99.97	72.02	2834

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Entpd7	ENSMUSG00000025192
rattus_norvegicus	Entpd7	ENSRNOG00000016883
caenorhabditis_elegans		WBGENE00003254
caenorhabditis_elegans		WBGENE00016380

Paralogs (7): ENTPD2 (ENSG00000054179), ENTPD1 (ENSG00000138185), ENTPD3 (ENSG00000168032), ENTPD5 (ENSG00000187097), ENTPD8 (ENSG00000188833), ENTPD4 (ENSG00000197217), ENTPD6 (ENSG00000197586)

Protein

Protein identifiers

Ectonucleoside triphosphate diphosphohydrolase 7 — Q9NQZ7 (reviewed: Q9NQZ7)

Alternative names: Lysosomal apyrase-like protein 1

All UniProt accessions (2): Q9NQZ7, S4R3B9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner. Preferentially hydrolyzes nucleoside 5’-triphosphates, with substrate preference for UTP > GTP > CTP. Hydrolyzes ATP and nucleoside diphosphates only to a minor extent.

Subcellular location. Cytoplasmic vesicle membrane.

Similarity. Belongs to the GDA1/CD39 NTPase family.

RefSeq proteins (3): NP_001336891, NP_001336892, NP_065087* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000407	GDA1_CD39_NTPase	Family

Pfam: PF01150

Enzyme classification (BRENDA):

• EC 3.6.1.5 — apyrase (BRENDA: 66 organisms, 384 substrates, 230 inhibitors, 158 Km, 64 kcat entries)

Substrate kinetics (BRENDA)

29 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0025–8.7	44
ADP	0.0025–5.3	42
UDP	0.0113–0.555	7
GDP	0.0114–0.357	6
UTP	0.01–0.207	5
N-[5-[4-CARBOXY-3-(3-OXO-9,9A-DIHYDRO-3H-XANTHEN	0.0133–0.105	4
DATP	0.018–0.89	3
DCTP	0.029–0.276	3
DGTP	0.028–0.16	3
IDP	0.0105–0.622	3
1,N6-ETHENO-ADP	0.073–0.114	2
1,N6-ETHENO-ATP	0.024–0.031	2
2’(3’)-O-(2,4,6-TRINITROPHENYL)ADENOSINE 5’-DIPH	0.009–0.019	2
2’(3’)-O-(2,4,6-TRINITROPHENYL)ADENOSINE 5’-TRIP	0.008–0.018	2
3’(2’)-O-(METHYLANTHRANOYL)ADENOSINE 5’-DIPHOSPH	0.014–0.017	2

Catalyzed reactions (Rhea), 4 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
• a ribonucleoside 5’-triphosphate + H2O = a ribonucleoside 5’-diphosphate + phosphate + H(+) (RHEA:23680)
• CTP + H2O = CDP + phosphate + H(+) (RHEA:29387)
• UTP + H2O = UDP + phosphate + H(+) (RHEA:64900)

UniProt features (33 total): binding site 23, topological domain 3, transmembrane region 2, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQZ7-F1	84.57	0.61

Functional residue map

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

Catalytic / active sites (1): 217 (proton acceptor)

Ligand- & substrate-binding residues (23): 92; 93; 93; 93; 174; 174; 174; 174; 261; 261; 261; 261 …

Disulfide bonds (1): 448–477

Glycosylation sites (1): 330

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8850843	Phosphate bond hydrolysis by NTPDase proteins

MSigDB gene sets: 223 (showing top): GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_PYRIMIDINE_CONTAINING_COMPOUND_CATABOLIC_PROCESS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GGGCATT_MIR365, GOBP_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION

GO Biological Process (10): CTP catabolic process (GO:0006254), UDP catabolic process (GO:0006256), nucleobase-containing small molecule catabolic process (GO:0034656), CTP metabolic process (GO:0046036), GTP metabolic process (GO:0046039), UTP catabolic process (GO:0046052), regulation of immune response (GO:0050776), T-helper 17 cell differentiation (GO:0072539), purine ribonucleotide metabolic process (GO:0009150), pyrimidine ribonucleotide catabolic process (GO:0009222)

GO Molecular Function (7): GTPase activity (GO:0003924), GDP phosphatase activity (GO:0004382), ribonucleoside triphosphate phosphatase activity (GO:0017111), CTPase activity (GO:0043273), UDP phosphatase activity (GO:0045134), metal ion binding (GO:0046872), hydrolase activity (GO:0016787)

GO Cellular Component (5): Golgi apparatus (GO:0005794), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), endocytic vesicle membrane (GO:0030666), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Nucleotide catabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
pyrimidine ribonucleotide catabolic process	3
pyrimidine ribonucleoside triphosphate catabolic process	2
pyrimidine ribonucleotide metabolic process	2
ribonucleoside triphosphate phosphatase activity	2
nucleoside diphosphate phosphatase activity	2
cytoplasm	2
CTP metabolic process	1
pyrimidine ribonucleoside diphosphate catabolic process	1
UDP metabolic process	1
nucleobase-containing compound catabolic process	1
small molecule catabolic process	1
nucleobase-containing small molecule metabolic process	1
pyrimidine ribonucleoside triphosphate metabolic process	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
UTP metabolic process	1
regulation of immune system process	1
immune response	1
regulation of response to stimulus	1
alpha-beta T cell activation involved in immune response	1
T cell differentiation involved in immune response	1
T-helper cell differentiation	1
T-helper 17 type immune response	1
purine nucleotide metabolic process	1
ribonucleotide metabolic process	1
pyrimidine nucleotide catabolic process	1
ribonucleotide catabolic process	1
pyrophosphatase activity	1
cation binding	1
catalytic activity	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
vesicle membrane	1
cytoplasmic vesicle	1
endocytic vesicle	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
intracellular vesicle	1

Protein interactions and networks

STRING

404 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ENTPD7	SEMA4G	Q9NTN9	456
ENTPD7	CUTC	Q9NTM9	436
ENTPD7	ENPP3	O14638	400
ENTPD7	C9orf43	Q8TAL5	393
ENTPD7	FAM185A	Q8N0U4	389
ENTPD7	ENTPD6	O75354	383
ENTPD7	ENPP4	Q9Y6X5	376
ENTPD7	ENTPD5	O75356	361
ENTPD7	ENTPD8	Q5MY95	356
ENTPD7	ZDHHC19	Q8WVZ1	337
ENTPD7	CMTM5	Q96DZ9	330
ENTPD7	SLC38A11	Q08AI6	330
ENTPD7	EFHB	Q8N7U6	327
ENTPD7	FHIP2B	Q86V87	325
ENTPD7	CHST13	Q8NET6	321

IntAct

37 interactions, top by confidence:

A	B	Type	Score
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
CD1E	SUSD5	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
TEX264	PER1	psi-mi:“MI:0914”(association)	0.530
SYT12	B4GALT5	psi-mi:“MI:0914”(association)	0.530
TCTN2	TPST2	psi-mi:“MI:0914”(association)	0.530
GAA	B3GAT3	psi-mi:“MI:0914”(association)	0.530
MYORG	HSPA5	psi-mi:“MI:0914”(association)	0.530
ENTPD7	PGK2	psi-mi:“MI:0914”(association)	0.530
CHRNA3	TMEM223	psi-mi:“MI:0914”(association)	0.350
ATP1B4	RTN2	psi-mi:“MI:0914”(association)	0.350
ENTPD7	HLA-A	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
TMEM59	GPR89A	psi-mi:“MI:0914”(association)	0.350
CD1E	ADAM10	psi-mi:“MI:0914”(association)	0.350
B3GALT5	TTI1	psi-mi:“MI:0914”(association)	0.350
B3GNT7	B4GALT5	psi-mi:“MI:0914”(association)	0.350
ATP1B4	SYNGR3	psi-mi:“MI:0914”(association)	0.350
GAA	ENTPD6	psi-mi:“MI:0914”(association)	0.350
DUOXA2	PRKAR1B	psi-mi:“MI:0914”(association)	0.350

BioGRID (78): ENTPD7 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), SPPL2B (Affinity Capture-MS), USP32 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), LAPTM4B (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS)

ESM2 similar proteins: A0JPE1, B1H2T2, D3ZEH5, O18756, O77783, O94923, O95461, P70428, Q2TBU2, Q3TUA9, Q3USZ8, Q4R5B4, Q4V8A9, Q58CX7, Q5NDE9, Q5R634, Q5R903, Q5RAQ5, Q5REF6, Q5RF53, Q5T7M9, Q5XIK2, Q66PG3, Q6GMK0, Q6ZQ11, Q86X52, Q8BFR2, Q8BHY8, Q8BJQ9, Q8C3I9, Q8CIF6, Q8IWV8, Q8N475, Q8NBJ9, Q8NDZ4, Q8TDX6, Q91W96, Q93063, Q95JJ0, Q96F81

Diamond homologs: P40009, Q18411, Q21815, Q28CF8, Q3TCT4, Q5REF6, Q617Y0, Q9DBT4, Q9NQZ7, Q9USP2, Q9XU84, Q9Y227, P52914, P80595, Q9SPM5, Q9SQG2, O75354, Q8H7L6, Q6Z4P2, E1BPW0, Q2QYE1, D2GZV9, E1C1L6, O55026, O75355, O75356, O93295, P32621, Q3U0P5, Q5DRK1, Q6NQA8, Q6P6S9, Q8H1D8, Q8K0L2, Q8TGG8, Q8TGH6, Q9ER31, Q9HEM6, Q9QYC8, Q9UT35

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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 carbohydrates and carbohydrate derivatives	6	21.9×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1819 predictions. Top by Δscore:

Variant	Effect	Δscore
10:99659589:G:GG	donor_gain	1.0000
10:99679462:GCCAG:G	donor_gain	1.0000
10:99679463:CCAG:C	donor_loss	1.0000
10:99679464:CAGGT:C	donor_loss	1.0000
10:99679465:AGG:A	donor_loss	1.0000
10:99679466:GG:G	donor_loss	1.0000
10:99679467:G:GA	donor_loss	1.0000
10:99679468:T:A	donor_loss	1.0000
10:99679717:A:AG	acceptor_gain	1.0000
10:99679718:A:G	acceptor_gain	1.0000
10:99679854:GCA:G	donor_gain	1.0000
10:99679855:C:T	donor_gain	1.0000
10:99685787:TGCA:T	acceptor_loss	1.0000
10:99685790:A:AG	acceptor_gain	1.0000
10:99685790:A:T	acceptor_loss	1.0000
10:99685790:AG:A	acceptor_gain	1.0000
10:99685791:G:GC	acceptor_gain	1.0000
10:99685791:GG:G	acceptor_gain	1.0000
10:99685791:GGAA:G	acceptor_gain	1.0000
10:99685885:G:GT	donor_gain	1.0000
10:99685885:G:T	donor_gain	1.0000
10:99685892:G:GT	donor_gain	1.0000
10:99685893:A:T	donor_gain	1.0000
10:99688692:AGG:A	acceptor_gain	1.0000
10:99688693:GGG:G	acceptor_gain	1.0000
10:99688746:GGATG:G	donor_gain	1.0000
10:99688747:GATG:G	donor_gain	1.0000
10:99688747:GATGG:G	donor_gain	1.0000
10:99688749:TG:T	donor_gain	1.0000
10:99688749:TGGTG:T	donor_loss	1.0000

AlphaMissense

3919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:99679373:T:A	W102R	1.000
10:99679373:T:C	W102R	1.000
10:99679860:G:T	R178M	1.000
10:99685895:G:T	G218W	1.000
10:99688705:T:A	W222R	1.000
10:99688705:T:C	W222R	1.000
10:99688707:G:C	W222C	1.000
10:99688707:G:T	W222C	1.000
10:99688719:C:A	N226K	1.000
10:99688719:C:G	N226K	1.000
10:99691439:G:A	G255E	1.000
10:99698767:T:C	F415S	1.000
10:99698773:G:A	G417D	1.000
10:99700980:G:A	C448Y	1.000
10:99700981:T:G	C448W	1.000
10:99702627:T:A	W513R	1.000
10:99702627:T:C	W513R	1.000
10:99702629:G:C	W513C	1.000
10:99702629:G:T	W513C	1.000
10:99702636:G:A	G516R	1.000
10:99702636:G:C	G516R	1.000
10:99702637:G:A	G516E	1.000
10:99679329:T:A	V87D	0.999
10:99679332:T:A	V88D	0.999
10:99679334:G:C	D89H	0.999
10:99679335:A:C	D89A	0.999
10:99679335:A:G	D89G	0.999
10:99679335:A:T	D89V	0.999
10:99679336:C:A	D89E	0.999
10:99679336:C:G	D89E	0.999

dbSNP variants (sampled 300 via entrez): RS1000034836 (10:99682662 G>A), RS1000086978 (10:99682163 C>T), RS1000180061 (10:99690298 G>A,T), RS1000225970 (10:99698445 A>G), RS1000379231 (10:99674894 C>T), RS1000382040 (10:99705317 A>G), RS1000416338 (10:99698320 G>A,T), RS1000448621 (10:99698194 C>T), RS1000509325 (10:99697121 T>C), RS1000530529 (10:99692271 G>A), RS1000561817 (10:99696792 C>A), RS1000581490 (10:99692738 A>T), RS1000666162 (10:99704027 C>A), RS1000689786 (10:99707288 C>A), RS1000799127 (10:99676450 T>C)

Disease associations

OMIM: gene MIM:616753 | disease phenotypes: MIM:256000

GenCC curated gene-disease

Mondo (1): Leigh syndrome (MONDO:0009723)

Orphanet (1): Leigh syndrome (Orphanet:506)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001438_10	Crohn’s disease	5.000000e-07
GCST003017_4	Colorectal cancer	8.000000e-07
GCST003017_9	Colorectal cancer	4.000000e-08
GCST90013405_37	Liver enzyme levels (alanine transaminase)	9.000000e-32

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007888	Leigh Disease	C10.228.140.163.100.412; C16.320.565.189.412; C16.320.565.202.810.444; C18.452.132.100.412; C18.452.648.189.412; C18.452.648.202.810.444; C18.452.660.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Formaldehyde	decreases expression, increases expression	2
Nickel	increases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	increases expression	2
chloroacetaldehyde	increases expression	1
bisphenol A	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
sodium arsenite	increases abundance, increases expression	1
perfluorooctanoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Rosiglitazone	decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Cidofovir	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Diclofenac	affects expression	1
Doxorubicin	decreases expression	1
Folic Acid	affects cotreatment, increases expression	1
Methotrexate	affects cotreatment, increases expression	1
Oxygen	decreases expression	1
Plant Oils	increases expression	1
Fenofibrate	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01721733	PHASE2	COMPLETED	Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
NCT02352896	PHASE2	COMPLETED	Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
NCT03747328	PHASE2	WITHDRAWN	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
NCT06843811	PHASE2	ENROLLING_BY_INVITATION	Sirolimus for Leigh Syndrome
NCT06990984	PHASE2	NOT_YET_RECRUITING	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01780168	Not specified	RECRUITING	The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01803906	Not specified	ENROLLING_BY_INVITATION	Tissue Sample Study for Mitochondrial Disorders
NCT03137355	Not specified	RECRUITING	The International Registry for Leigh Syndrome
NCT05277363	Not specified	WITHDRAWN	A Study of the Natural Course of SURF1 Deficiency
NCT05554835	Not specified	RECRUITING	Global Registry and Natural History Study for Mitochondrial Disorders
NCT06967831	Not specified	RECRUITING	Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells