NUDT19

Summary

NUDT19 (nudix hydrolase 19, HGNC:32036) is a protein-coding gene on chromosome 19q13.11, encoding Acyl-coenzyme A diphosphatase NUDT19 (A8MXV4). Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4’-phosphopantetheine and adenosine 3’,5’-bisphosphate.

Predicted to enable magnesium ion binding activity. Predicted to be involved in acyl-CoA metabolic process and coenzyme A catabolic process. Located in mitochondrion.

Source: NCBI Gene 390916 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 93 total
• Phenotypes (HPO): 47
• MANE Select transcript: NM_001105570

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32036
Approved symbol	NUDT19
Name	nudix hydrolase 19
Location	19q13.11
Locus type	gene with protein product
Status	Approved
Aliases	RP2
Ensembl gene	ENSG00000213965
Ensembl biotype	protein_coding
Entrez	390916

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000397061

RefSeq mRNA: 1 — MANE Select: NM_001105570 NM_001105570

CCDS: CCDS42543

Canonical transcript exons

ENST00000397061 — 3 exons

Exon	Start	End
ENSE00001527157	32711752	32713792
ENSE00001527159	32709185	32709392
ENSE00001527160	32691821	32692674

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 96.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.9419 / max 193.0698, expressed in 1802 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175061	22.2438	1796
175063	3.1959	1436
175062	1.1254	594
175064	0.3768	205

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	96.85	gold quality
quadriceps femoris	UBERON:0001377	96.71	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.97	gold quality
ileal mucosa	UBERON:0000331	95.91	gold quality
tibialis anterior	UBERON:0001385	95.62	silver quality
biceps brachii	UBERON:0001507	95.58	gold quality
left ventricle myocardium	UBERON:0006566	94.34	silver quality
deltoid	UBERON:0001476	94.32	gold quality
amniotic fluid	UBERON:0000173	93.76	gold quality
jejunal mucosa	UBERON:0000399	93.13	gold quality
jejunum	UBERON:0002115	92.76	gold quality
heart right ventricle	UBERON:0002080	92.58	gold quality
palpebral conjunctiva	UBERON:0001812	92.21	gold quality
skeletal muscle tissue	UBERON:0001134	92.10	gold quality
nasal cavity epithelium	UBERON:0005384	92.03	silver quality
cardiac muscle of right atrium	UBERON:0003379	91.86	silver quality
pigmented layer of retina	UBERON:0001782	91.34	gold quality
upper leg skin	UBERON:0004262	91.34	gold quality
oral cavity	UBERON:0000167	91.33	gold quality
body of tongue	UBERON:0011876	90.85	gold quality
skin of hip	UBERON:0001554	90.74	gold quality
muscle tissue	UBERON:0002385	90.50	gold quality
epithelium of nasopharynx	UBERON:0001951	90.49	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.16	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.12	gold quality
colonic mucosa	UBERON:0000317	90.03	gold quality
upper arm skin	UBERON:0004263	89.38	silver quality
esophagus squamous epithelium	UBERON:0006920	89.24	gold quality
myocardium	UBERON:0002349	89.22	silver quality
epithelial cell of pancreas	CL:0000083	88.76	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.69
E-MTAB-4850	no	368.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

97 targeting NUDT19, 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-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-1296-3P	99.72	64.04	636

Literature-anchored findings (GeneRIF, showing 2)

• Isolation and functional characterization of the NUDT19 ortholog in mouse. (PMID:16185196)
• LncRNA LINC00958 Activates mTORC1/P70S6K Signalling Pathway to Promote Epithelial-Mesenchymal Transition Process in the Hepatocellular Carcinoma. (PMID:33979257)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	nudt19	ENSDARG00000077537
mus_musculus	Nudt19	ENSMUSG00000034875
rattus_norvegicus	Nudt19	ENSRNOG00000059386
drosophila_melanogaster	CG10195	FBGN0032787
drosophila_melanogaster	CG10194	FBGN0032790
drosophila_melanogaster	CG18094	FBGN0032791
caenorhabditis_elegans	ndx-7	WBGENE00003584

Protein

Protein identifiers

Acyl-coenzyme A diphosphatase NUDT19 — A8MXV4 (reviewed: A8MXV4)

Alternative names: Nucleoside diphosphate-linked moiety X motif 19

All UniProt accessions (1): A8MXV4

UniProt curated annotations — full annotation on UniProt →

Function. Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4’-phosphopantetheine and adenosine 3’,5’-bisphosphate. Mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched-chain fatty-acyl-CoA esters and at low substrate concentrations medium and long-chain fatty-acyl-CoA esters are the primary substrates. Highest activity seen with medium-chain acyl-CoA esters and higher rates of activity seen with the unsaturated acyl-CoA esters compared with the saturated esters. Exhibits decapping activity towards dpCoA-capped RNAs in vitro.

Subunit / interactions. Monomer.

Subcellular location. Peroxisome.

Similarity. Belongs to the Nudix hydrolase family.

RefSeq proteins (1): NP_001099040* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000086	NUDIX_hydrolase_dom	Domain
IPR015797	NUDIX_hydrolase-like_dom_sf	Homologous_superfamily
IPR039121	NUDT19	Family

Catalyzed reactions (Rhea), 12 shown:

• butanoyl-CoA + H2O = S-butanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:49976)
• hexanoyl-CoA + H2O = hexanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:49980)
• octanoyl-CoA + H2O = S-octanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50016)
• dodecanoyl-CoA + H2O = S-dodecanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50024)
• tetradecanoyl-CoA + H2O = tetradecanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50028)
• hexadecanoyl-CoA + H2O = S-hexadecanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50032)
• choloyl-CoA + H2O = S-choloyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50036)
• an acyl-CoA + H2O = an acyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50044)
• CoA + H2O = (R)-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:64988)
• propanoyl-CoA + H2O = propanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:67464)
• malonyl-CoA + H2O = malonyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:67468)
• succinyl-CoA + H2O = succinyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:67472)

UniProt features (11 total): site 3, short sequence motif 2, binding site 2, chain 1, domain 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MXV4-F1	88.21	0.70

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 (3): 49 (important for coenzyme a binding); 55 (important for coenzyme a binding); 210 (important for coenzyme a binding)

Ligand- & substrate-binding residues (2): 131; 135

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-390918	Peroxisomal lipid metabolism
R-HSA-9033241	Peroxisomal protein import

MSigDB gene sets: 412 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_COENZYME_A_METABOLIC_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, CROONQUIST_NRAS_SIGNALING_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX

GO Biological Process (7): fatty acid catabolic process (GO:0009062), coenzyme A catabolic process (GO:0015938), medium-chain fatty-acyl-CoA catabolic process (GO:0036114), butyryl-CoA catabolic process (GO:0044580), succinyl-CoA catabolic process (GO:1901289), propionyl-CoA metabolic process (GO:1902858), malonyl-CoA catabolic process (GO:2001294)

GO Molecular Function (5): magnesium ion binding (GO:0000287), coenzyme A diphosphatase activity (GO:0010945), hydrolase activity (GO:0016787), hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818), metal ion binding (GO:0046872)

GO Cellular Component (4): mitochondrion (GO:0005739), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), peroxisome (GO:0005777)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Fatty acid metabolism	1
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sulfur compound catabolic process	3
purine-containing compound catabolic process	3
nucleoside phosphate catabolic process	3
fatty-acyl-CoA catabolic process	2
cytoplasm	2
fatty acid metabolic process	1
lipid catabolic process	1
monocarboxylic acid catabolic process	1
coenzyme A metabolic process	1
medium-chain fatty-acyl-CoA metabolic process	1
fatty acid catabolic process	1
succinyl-CoA metabolic process	1
fatty-acyl-CoA metabolic process	1
malonyl-CoA metabolic process	1
metal ion binding	1
pyrophosphatase activity	1
catalytic activity	1
hydrolase activity, acting on acid anhydrides	1
cation binding	1
intracellular membrane-bounded organelle	1
peroxisome	1
microbody lumen	1
cellular anatomical structure	1
microbody	1

Protein interactions and networks

STRING

1197 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUDT19	NUDT12	Q9BQG2	765
NUDT19	NUDT17	P0C025	740
NUDT19	NUDT7	P0C024	736
NUDT19	NUDT8	Q8WV74	658
NUDT19	NUDT15	Q9NV35	637
NUDT19	NUDT2	P50583	613
NUDT19	NUDT14	O95848	567
NUDT19	NUDT3	O95989	545
NUDT19	NUDT5	Q9UKK9	517
NUDT19	PTGR3	Q8N4Q0	513
NUDT19	NUDT22	Q9BRQ3	506
NUDT19	NUDT13	Q86X67	504
NUDT19	PXMP4	Q9Y6I8	490
NUDT19	NUDT16	Q96DE0	484
NUDT19	TYSND1	Q2T9J0	459

IntAct

63 interactions, top by confidence:

A	B	Type	Score
HSPD1	NUDT19	psi-mi:“MI:0914”(association)	0.710
BPNT1	GTPBP10	psi-mi:“MI:0914”(association)	0.530
DEFA5	NUDT19	psi-mi:“MI:0914”(association)	0.530
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
CAT	NUDT19	psi-mi:“MI:0914”(association)	0.420
BCL2L14		psi-mi:“MI:0914”(association)	0.350
IRF2	VWA8	psi-mi:“MI:0914”(association)	0.350
NT5C3A	VWA8	psi-mi:“MI:0914”(association)	0.350
TNFRSF10A	NAP1L4	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
YBEY	NUDT19	psi-mi:“MI:0914”(association)	0.350
OXLD1	NUDT19	psi-mi:“MI:0914”(association)	0.350
ACSM5	NUDT19	psi-mi:“MI:0914”(association)	0.350
NIT1	NUDT19	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NUDT19	psi-mi:“MI:0914”(association)	0.350
	NUDT19	psi-mi:“MI:0914”(association)	0.350
ARRDC3	ESYT2	psi-mi:“MI:0914”(association)	0.350
UQCRFS1	VWA8	psi-mi:“MI:0914”(association)	0.350
SLC25A41	VPS37C	psi-mi:“MI:0914”(association)	0.350
VAC14	NUDT19	psi-mi:“MI:0914”(association)	0.350
MRPS24	NUDT19	psi-mi:“MI:0914”(association)	0.350
ACSM3	NUDT19	psi-mi:“MI:0914”(association)	0.350

BioGRID (168): NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Proximity Label-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Affinity Capture-MS), NUDT19 (Proximity Label-MS), NUDT19 (Proximity Label-MS)

ESM2 similar proteins: A5PK74, A8MXV4, D3ZBP4, D3ZU57, E2RDP2, F1MH07, P0C5W1, P10937, P10938, P11086, P11930, P53370, P70563, Q002B5, Q08DM2, Q32LB9, Q3SX05, Q4KM32, Q4R5Q4, Q568Y2, Q5JZY3, Q5ZL13, Q684M2, Q6AYD9, Q76MJ5, Q7M0H3, Q7M0H4, Q80TE0, Q86TL0, Q8BGV9, Q8BMZ5, Q8C052, Q8CH40, Q8N159, Q8NC60, Q8NFF5, Q8TDZ2, Q8VDP3, Q8WV74, Q91ZJ0

Diamond homologs: A8MXV4, P11930, Q5PQ50, Q5ZL13, Q6AYD9, Q7M0H3, Q7M0H4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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.

GO biological processes:

GO term	Partners	Fold	FDR
cell surface receptor protein tyrosine kinase signaling pathway	8	25.7×	5e-07
protein autophosphorylation	6	16.1×	6e-04
positive regulation of MAPK cascade	7	10.4×	8e-04
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	7	10.2×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

622 predictions. Top by Δscore:

Variant	Effect	Δscore
19:32711746:TTTCA:T	acceptor_loss	1.0000
19:32711749:CAG:C	acceptor_loss	1.0000
19:32711750:A:AG	acceptor_gain	1.0000
19:32711750:AG:A	acceptor_gain	1.0000
19:32711750:AGGT:A	acceptor_gain	1.0000
19:32711751:G:GA	acceptor_gain	1.0000
19:32711751:GG:G	acceptor_gain	1.0000
19:32711751:GGT:G	acceptor_gain	1.0000
19:32711751:GGTG:G	acceptor_gain	1.0000
19:32711751:GGTGA:G	acceptor_gain	1.0000
19:32692670:ACCAG:A	donor_loss	0.9900
19:32692672:CAGGT:C	donor_loss	0.9900
19:32692674:GGTA:G	donor_loss	0.9900
19:32692675:GTAAG:G	donor_loss	0.9900
19:32709181:ACAGT:A	acceptor_gain	0.9900
19:32709183:A:AG	acceptor_gain	0.9900
19:32709184:G:GG	acceptor_gain	0.9900
19:32709184:GT:G	acceptor_gain	0.9900
19:32709183:AGT:A	acceptor_gain	0.9800
19:32709184:GTG:G	acceptor_gain	0.9800
19:32711893:C:G	donor_gain	0.9800
19:32711934:GTA:G	donor_gain	0.9800
19:32692662:G:GA	donor_gain	0.9700
19:32708934:TC:T	donor_gain	0.9700
19:32709313:G:A	acceptor_gain	0.9700
19:32709388:ACCAG:A	donor_loss	0.9700
19:32709389:CCAGG:C	donor_loss	0.9700
19:32709390:CAG:C	donor_loss	0.9700
19:32709391:AGGT:A	donor_loss	0.9700
19:32709392:G:GA	donor_loss	0.9700

AlphaMissense

2409 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:32709185:T:A	W239R	0.961
19:32709185:T:C	W239R	0.961
19:32692594:T:C	F212L	0.958
19:32692596:T:A	F212L	0.958
19:32692596:T:G	F212L	0.958
19:32692357:T:C	F133L	0.955
19:32692359:T:A	F133L	0.955
19:32692359:T:G	F133L	0.955
19:32692123:T:C	F55L	0.938
19:32692125:C:A	F55L	0.938
19:32692125:C:G	F55L	0.938
19:32692084:T:C	F42L	0.937
19:32692086:C:A	F42L	0.937
19:32692086:C:G	F42L	0.937
19:32692225:T:C	F89L	0.925
19:32692227:C:A	F89L	0.925
19:32692227:C:G	F89L	0.925
19:32692144:T:C	F62L	0.924
19:32692146:C:A	F62L	0.924
19:32692146:C:G	F62L	0.924
19:32711851:G:C	R341P	0.924
19:32709305:T:C	F279L	0.923
19:32709307:T:A	F279L	0.923
19:32709307:T:G	F279L	0.923
19:32692606:T:C	F216L	0.920
19:32692608:C:A	F216L	0.920
19:32692608:C:G	F216L	0.920
19:32709187:G:C	W239C	0.920
19:32709187:G:T	W239C	0.920
19:32692337:T:C	I126T	0.915

dbSNP variants (sampled 300 via entrez): RS1000124726 (19:32707572 C>T), RS1000169189 (19:32701569 T>C,G), RS1000222423 (19:32699429 G>A), RS1000330733 (19:32697126 A>G), RS1000334847 (19:32701861 T>C), RS1000427098 (19:32697359 G>A), RS1000515086 (19:32707870 C>T), RS1000524590 (19:32692715 T>A), RS1000537144 (19:32693340 G>A,C,T), RS1000815929 (19:32698504 A>G), RS1001060229 (19:32698450 C>T), RS1001071781 (19:32703244 G>A,T), RS1001127663 (19:32694269 C>A,T), RS1001211616 (19:32692035 G>A,C), RS1001664426 (19:32692132 G>A,C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

47 total (30 of 47 shown, HPO-id order):

HPO	Term
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000533	Chorioretinal atrophy
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000603	Central scotoma
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001099	Atrophic fundus lesion
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0001417	X-linked inheritance
HP:0003621	Juvenile onset
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001765_25	Red blood cell traits	1.000000e-10
GCST001850_7	Major depressive disorder	7.000000e-07
GCST009391_1538	Metabolite levels	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010510	NG-monomethyl-arginine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	2
Cadmium Chloride	decreases expression	2
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
jinfukang	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases mutagenesis	1
Carbamazepine	affects expression	1
Copper	decreases expression, affects binding	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Urethane	increases 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_TB36	HAP1 NUDT19 (-) 1	Cancer cell line	Male
CVCL_TB37	HAP1 NUDT19 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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