NUDT12

Summary

NUDT12 (nudix hydrolase 12, HGNC:18826) is a protein-coding gene on chromosome 5q21.2, encoding NAD-capped RNA hydrolase NUDT12 (Q9BQG2). mRNA decapping enzyme that specifically removes the nicotinamide adenine dinucleotide (NAD) cap from a subset of mRNAs by hydrolyzing the diphosphate linkage to produce nicotinamide mononucleotide (NMN) and 5’ monophosphate mRNA.

Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).

Source: NCBI Gene 83594 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_031438

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18826
Approved symbol	NUDT12
Name	nudix hydrolase 12
Location	5q21.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP761I172
Ensembl gene	ENSG00000112874
Ensembl biotype	protein_coding
OMIM	609232
Entrez	83594

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000230792, ENST00000507423, ENST00000508889, ENST00000515407, ENST00000879998, ENST00000879999, ENST00000880000, ENST00000880001, ENST00000880002, ENST00000918487, ENST00000918488, ENST00000963871

RefSeq mRNA: 2 — MANE Select: NM_031438 NM_001300741, NM_031438

CCDS: CCDS4096, CCDS75284

Canonical transcript exons

ENST00000230792 — 7 exons

Exon	Start	End
ENSE00000759807	103555931	103556098
ENSE00000759808	103554740	103554853
ENSE00000759809	103552217	103552416
ENSE00000862397	103558879	103559468
ENSE00001008467	103560043	103560254
ENSE00001008469	103548855	103550971
ENSE00002050262	103562703	103562789

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 90.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5959 / max 247.2464, expressed in 1550 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62796	6.7707	1524
62795	0.8252	532

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	90.66	gold quality
adrenal tissue	UBERON:0018303	90.10	gold quality
jejunal mucosa	UBERON:0000399	87.67	gold quality
rectum	UBERON:0001052	87.54	gold quality
calcaneal tendon	UBERON:0003701	86.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.60	gold quality
pancreas	UBERON:0001264	86.58	gold quality
body of pancreas	UBERON:0001150	86.28	gold quality
right adrenal gland cortex	UBERON:0035827	84.72	gold quality
vastus lateralis	UBERON:0001379	84.39	gold quality
right adrenal gland	UBERON:0001233	83.90	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.86	gold quality
left adrenal gland	UBERON:0001234	83.68	gold quality
ventricular zone	UBERON:0003053	83.65	gold quality
pigmented layer of retina	UBERON:0001782	83.52	gold quality
colonic mucosa	UBERON:0000317	83.28	gold quality
duodenum	UBERON:0002114	83.28	gold quality
left adrenal gland cortex	UBERON:0035825	83.26	gold quality
adrenal gland	UBERON:0002369	83.17	gold quality
right lobe of liver	UBERON:0001114	83.07	gold quality
quadriceps femoris	UBERON:0001377	82.89	silver quality
mucosa of sigmoid colon	UBERON:0004993	82.56	gold quality
adrenal cortex	UBERON:0001235	82.47	gold quality
muscle of leg	UBERON:0001383	82.36	gold quality
liver	UBERON:0002107	82.33	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.29	gold quality
gastrocnemius	UBERON:0001388	82.07	gold quality
biceps brachii	UBERON:0001507	81.99	gold quality
adult mammalian kidney	UBERON:0000082	81.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting NUDT12, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
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-223-3P	99.99	70.14	1140
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-381-3P	99.93	71.87	2854

Literature-anchored findings (GeneRIF, showing 3)

• NUDT12 may act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. (PMID:12790796)
• The crystal structure of mouse Nudt12 in complex with the deNADding product AMP and three Mg(2+) ions at 1.6 A resolution provides insights into the molecular basis of the deNADding activity in the NAD pyrophosphate. (PMID:31101919)
• Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic Surveillance of NAD-Capped RNAs. (PMID:31875550)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nudt12	ENSDARG00000100813
mus_musculus	Nudt12	ENSMUSG00000024228
rattus_norvegicus	Nudt12	ENSRNOG00000022576
caenorhabditis_elegans		WBGENE00003586

Paralogs (3): NUDT1 (ENSG00000106268), NUDT17 (ENSG00000186364), NUDT18 (ENSG00000275074)

Protein

Protein identifiers

NAD-capped RNA hydrolase NUDT12 — Q9BQG2 (reviewed: Q9BQG2)

Alternative names: NADH pyrophosphatase NUDT12, Nucleoside diphosphate-linked moiety X motif 12

All UniProt accessions (1): Q9BQG2

UniProt curated annotations — full annotation on UniProt →

Function. mRNA decapping enzyme that specifically removes the nicotinamide adenine dinucleotide (NAD) cap from a subset of mRNAs by hydrolyzing the diphosphate linkage to produce nicotinamide mononucleotide (NMN) and 5’ monophosphate mRNA. The NAD-cap is present at the 5’-end of some RNAs; in contrast to the canonical N7 methylguanosine (m7G) cap, the NAD cap promotes mRNA decay. Preferentially acts on NAD-capped transcripts in response to nutrient stress. Also acts on free nicotinamide adenine dinucleotide molecules: hydrolyzes NAD(H) into NMN(H) and AMP, and NADPH into NMNH and 2’,5’-ADP. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. Regulates the levels of circadian clock components PER1, PER2, PER3 and CRY2 in the liver.

Subunit / interactions. Homodimer. Homodimerization is essential for its catalytic activity and protein stability. Interacts (via ANK repeats) with BLMH.

Subcellular location. Cytoplasm. Peroxisome. Cytoplasmic granule.

Cofactor. Binds 3 Mg(2+) ions per subunit. Binds 1 zinc ion per subunit.

Similarity. Belongs to the Nudix hydrolase family. NudC subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BQG2-1	1	yes
Q9BQG2-2	2

RefSeq proteins (2): NP_001287670, NP_113626* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000086	NUDIX_hydrolase_dom	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR015375	NADH_PPase-like_N	Domain
IPR015376	Znr_NADH_PPase	Domain
IPR015797	NUDIX_hydrolase-like_dom_sf	Homologous_superfamily
IPR020084	NUDIX_hydrolase_CS	Conserved_site
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR049734	NudC-like_C	Domain
IPR050241	NAD-cap_RNA_hydrolase_NudC	Family

Pfam: PF00293, PF09296, PF09297, PF12796

Catalyzed reactions (Rhea), 4 shown:

• NAD(+) + H2O = beta-nicotinamide D-ribonucleotide + AMP + 2 H(+) (RHEA:11800)
• NADH + H2O = reduced beta-nicotinamide D-ribonucleotide + AMP + 2 H(+) (RHEA:48868)
• NADPH + H2O = reduced beta-nicotinamide D-ribonucleotide + adenosine 2’,5’-bisphosphate + 2 H(+) (RHEA:60820)
• a 5’-end NAD(+)-phospho-ribonucleoside in mRNA + H2O = a 5’-end phospho-adenosine-phospho-ribonucleoside in mRNA + beta-nicotinamide D-ribonucleotide + 2 H(+) (RHEA:60876)

UniProt features (71 total): strand 17, binding site 16, helix 12, mutagenesis site 11, repeat 3, modified residue 2, sequence variant 2, short sequence motif 2, turn 2, chain 1, splice variant 1, sequence conflict 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6SCX	X-RAY DIFFRACTION	2.92

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQG2-F1	87.43	0.67

Functional residue map

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

Ligand- & substrate-binding residues (16): 307; 318; 354–356; 354; 370; 370; 370; 374; 374; 374; 415; 415 …

Post-translational modifications (2): 185, 292

Mutagenesis-validated functional residues (11):

Position	Phenotype
281	loss of homodimerization; when associated with a-283; a-284; a-287 and a-384.
283	loss of homodimerization; when associated with a-281; a-284; a-287 and a-384.
284	loss of homodimerization; when associated with a-281; a-283; a-287 and a-384.
287	loss of homodimerization; when associated with a-281; a-283; a-284 and a-384.
318	partial loss of decapping activity towards nad-capped rnas.
356	loss of decapping activity towards nad-capped rnas.
370	loss of decapping activity towards nad-capped rnas.
374	loss of decapping activity towards nad-capped rnas.
384	no effect on decapping activity towards nad-capped rnas. loss of homodimerization; when associated with a-281; a-283; a-
390	partial loss of decapping activity towards nad-capped rnas.
460–462	abolishes localization to peroxisomes.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-196807	Nicotinate metabolism

MSigDB gene sets: 145 (showing top): GOBP_CIRCADIAN_RHYTHM, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_NADPPLUS_METABOLIC_PROCESS, GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION, DARWICHE_PAPILLOMA_PROGRESSION_RISK, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS

GO Biological Process (11): mRNA catabolic process (GO:0006402), NADP+ catabolic process (GO:0006742), NAD+ catabolic process (GO:0019677), circadian regulation of gene expression (GO:0032922), NAD-cap decapping (GO:0110155), mRNA methylguanosine-cap decapping (GO:0110156), nicotinate metabolic process (GO:1901847), obsolete NADH metabolic process (GO:0006734), mRNA metabolic process (GO:0016071), NAD+ biosynthetic process via the salvage pathway (GO:0034355), nucleobase-containing compound catabolic process (GO:0034655)

GO Molecular Function (12): NAD+ diphosphatase activity (GO:0000210), magnesium ion binding (GO:0000287), zinc ion binding (GO:0008270), NADPH pyrophosphatase activity (GO:0010943), NADH pyrophosphatase activity (GO:0035529), RNA NAD-cap (NMN-forming) hydrolase activity (GO:0110153), phosphodiesterase decapping endonuclease activity (GO:1990174), protein binding (GO:0005515), pyrophosphatase activity (GO:0016462), hydrolase activity (GO:0016787), metal ion binding (GO:0046872), catalytic activity, acting on RNA (GO:0140098)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), peroxisome (GO:0005777), peroxisomal matrix (GO:0005782)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of water-soluble vitamins and cofactors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
dinucleotide phosphatase activity	3
mRNA metabolic process	2
purine nucleotide catabolic process	2
pyridine nucleotide catabolic process	2
RNA decapping	2
RNA catabolic process	1
negative regulation of gene expression	1
NADP+ metabolic process	1
NAD+ metabolic process	1
circadian rhythm	1
regulation of gene expression	1
alkaloid metabolic process	1
monocarboxylic acid metabolic process	1
pyridine-containing compound metabolic process	1
RNA metabolic process	1
NAD+ biosynthetic process	1
pyridine nucleotide salvage	1
purine nucleotide salvage	1
nucleobase-containing compound metabolic process	1
catabolic process	1
metal ion binding	1
transition metal ion binding	1
pyrophosphatase activity	1
catalytic activity, acting on RNA	1
RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism	1
binding	1
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	1
catalytic activity	1
cation binding	1
catalytic activity, acting on a nucleic acid	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
microbody	1
peroxisome	1
microbody lumen	1

Protein interactions and networks

STRING

1762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUDT12	NUDT14	O95848	790
NUDT12	NUDT2	P50583	772
NUDT12	NUDT19	A8MXV4	765
NUDT12	NUDT17	P0C025	762
NUDT12	NUDT15	Q9NV35	744
NUDT12	NUDT5	Q9UKK9	736
NUDT12	NUDT22	Q9BRQ3	724
NUDT12	NUDT18	Q6ZVK8	715
NUDT12	NUDT9	Q9BW91	712
NUDT12	NUDT7	P0C024	679
NUDT12	NUDT3	O95989	676
NUDT12	NUDT16	Q96DE0	661
NUDT12	NUDT8	Q8WV74	574
NUDT12	DCP2	Q8IU60	570
NUDT12	NUDC	Q9Y266	537

IntAct

48 interactions, top by confidence:

A	B	Type	Score
BLMH	NUDT12	psi-mi:“MI:0915”(physical association)	0.880
NUDT12	BLMH	psi-mi:“MI:0915”(physical association)	0.880
PDLIM1	ACTN4	psi-mi:“MI:0914”(association)	0.800
ZNF517	GGPS1	psi-mi:“MI:0914”(association)	0.530
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
IGFBP4	CETN3	psi-mi:“MI:0914”(association)	0.530
EPS8L1	DHPS	psi-mi:“MI:0914”(association)	0.530
THRAP3	HNRNPC	psi-mi:“MI:0914”(association)	0.480
NUDT12	AHNAK	psi-mi:“MI:0915”(physical association)	0.400
KERA	VWA8	psi-mi:“MI:0914”(association)	0.350
NUDT12	VWA8	psi-mi:“MI:0914”(association)	0.350
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.350
ADD2	ROCK2	psi-mi:“MI:0914”(association)	0.350
PTP4A1	FDFT1	psi-mi:“MI:0914”(association)	0.350
TEK	LANCL1	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
SAA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ZNF467	ZNF320	psi-mi:“MI:0914”(association)	0.350

BioGRID (73): NUDT12 (Two-hybrid), NUDT12 (Affinity Capture-MS), NCOA5 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), LZTR1 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), BLMH (Affinity Capture-MS), TJP2 (Affinity Capture-MS), SIRT2 (Affinity Capture-MS), NUDT12 (Two-hybrid), NUDT12 (Affinity Capture-MS), NUDT12 (Affinity Capture-MS), NUDT12 (Affinity Capture-MS), LZTR1 (Affinity Capture-MS), NUDT12 (Affinity Capture-MS)

ESM2 similar proteins: A0A0K0JFP3, A0A0S2UWC9, A0A314LG79, O04854, O13648, O13935, O24149, O24150, O24151, O48658, O48659, O48660, O48661, O49499, O65162, O65862, O65922, O82147, O94634, P15565, P41888, P56523, Q06490, Q09644, Q12455, Q29RH3, Q42945, Q42963, Q43095, Q4R7L8, Q5RD76, Q61E36, Q7F8T6, Q93XQ4, Q93XQ5, Q94BN2, Q96556, Q96557, Q9BQG2, Q9I7X6

Diamond homologs: A1AIG7, A1JIJ0, A4TS22, A4VLQ5, A4W5B9, A5F3M9, A5UA57, A5UGU3, A5W1F2, A6TGQ3, A6V6Z8, A6VQT1, A7FNH4, A7MJ81, A7ZUL1, A8A796, A8AKS7, A9N0K8, A9R8D3, B0KMR5, B1IUQ1, B1J6H6, B1JJK8, B1LNU8, B1XBZ9, B2K122, B2TWI3, B2VG76, B4T0Z8, B4TCT5, B4TQK6, B5BJR5, B5F1H9, B5FQL1, B5QYF1, B5RFI8, B5XYE2, B5Z092, B6I5K7, B7LA85

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1020 predictions. Top by Δscore:

Variant	Effect	Δscore
5:103550968:GGACC:G	acceptor_loss	1.0000
5:103550969:GACC:G	acceptor_loss	1.0000
5:103550970:ACC:A	acceptor_loss	1.0000
5:103550972:C:CG	acceptor_loss	1.0000
5:103550973:T:C	acceptor_loss	1.0000
5:103552211:CTTTA:C	donor_loss	1.0000
5:103552212:TTTA:T	donor_loss	1.0000
5:103552213:TTA:T	donor_loss	1.0000
5:103552214:TACCT:T	donor_loss	1.0000
5:103552215:ACC:A	donor_loss	1.0000
5:103552416:CCTAA:C	acceptor_gain	1.0000
5:103554734:GCTTA:G	donor_loss	1.0000
5:103554735:CTTA:C	donor_loss	1.0000
5:103554736:TTA:T	donor_loss	1.0000
5:103554737:TACCA:T	donor_loss	1.0000
5:103554738:A:AC	donor_gain	1.0000
5:103554738:ACC:A	donor_loss	1.0000
5:103554739:C:CC	donor_gain	1.0000
5:103554739:C:G	donor_loss	1.0000
5:103554739:CCAGG:C	donor_gain	1.0000
5:103554853:TC:T	acceptor_loss	1.0000
5:103554854:C:CC	acceptor_gain	1.0000
5:103554854:C:G	acceptor_loss	1.0000
5:103554855:T:A	acceptor_loss	1.0000
5:103554857:T:TC	acceptor_gain	1.0000
5:103555925:GCTTA:G	donor_loss	1.0000
5:103555926:CTTA:C	donor_loss	1.0000
5:103555927:TTA:T	donor_loss	1.0000
5:103555928:TACC:T	donor_loss	1.0000
5:103555929:A:AC	donor_gain	1.0000

AlphaMissense

3039 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:103552234:A:G	W421R	1.000
5:103552234:A:T	W421R	1.000
5:103552232:C:A	W421C	0.999
5:103552232:C:G	W421C	0.999
5:103552327:A:G	W390R	0.999
5:103552327:A:T	W390R	0.999
5:103554750:A:C	F356L	0.999
5:103554750:A:T	F356L	0.999
5:103554752:A:G	F356L	0.999
5:103556045:A:G	C284R	0.999
5:103556066:A:G	W277R	0.999
5:103556066:A:T	W277R	0.999
5:103552399:C:G	A366P	0.998
5:103554762:G:C	C352W	0.998
5:103552304:C:A	M397I	0.997
5:103552304:C:G	M397I	0.997
5:103552304:C:T	M397I	0.997
5:103555991:A:G	C302R	0.997
5:103556043:G:C	C284W	0.997
5:103556084:C:G	A271P	0.997
5:103556089:G:T	A269D	0.997
5:103559276:T:A	R133S	0.997
5:103559276:T:G	R133S	0.997
5:103552233:C:G	W421S	0.996
5:103552305:A:G	M397T	0.996
5:103552325:C:A	W390C	0.996
5:103552325:C:G	W390C	0.996
5:103552350:A:T	V382D	0.996
5:103552385:T:A	E370D	0.996
5:103552385:T:G	E370D	0.996

dbSNP variants (sampled 300 via entrez): RS1000040794 (5:103555140 A>T), RS1000180213 (5:103559897 T>G), RS1000458769 (5:103558123 T>C,G), RS1000701442 (5:103563703 T>G), RS1000844536 (5:103559965 A>G), RS1000896426 (5:103553262 T>C), RS1001120767 (5:103553715 C>G,T), RS1001187508 (5:103558435 C>A,G,T), RS1001248706 (5:103564410 GTT>G), RS1001350248 (5:103553575 A>T), RS1001506087 (5:103556893 G>A), RS1001573662 (5:103550604 G>A), RS1001718659 (5:103552452 A>C), RS1001972547 (5:103562603 G>C), RS1002221920 (5:103563438 C>T)

Disease associations

OMIM: gene MIM:609232 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST001113_8	Age at smoking initiation in chronic obstructive pulmonary disease	2.000000e-06
GCST001802_1	Depression (quantitative trait)	8.000000e-08
GCST001859_58	Thiazide-induced adverse metabolic effects in hypertensive patients	8.000000e-06
GCST002337_55	Amyotrophic lateral sclerosis (sporadic)	5.000000e-09
GCST002616_9	Mitochondrial DNA levels	5.000000e-06
GCST003487_16	Response to fenofibrate (total cholesterol levels)	9.000000e-06
GCST003854_41	Gut microbiota (functional units)	3.000000e-08
GCST005830_17	Hand grip strength	2.000000e-15
GCST006658_7	Longevity	7.000000e-06
GCST007323_69	Risk-taking tendency (4-domain principal component model)	1.000000e-11
GCST007326_37	Number of sexual partners	4.000000e-10
GCST007326_86	Number of sexual partners	7.000000e-14
GCST007327_136	Smoking status (ever vs never smokers)	4.000000e-09
GCST007851_3	Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis	2.000000e-06
GCST008367_14	Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis)	4.000000e-06
GCST008503_3	Fasting glucose change	2.000000e-06
GCST009597_165	Multiple sclerosis	8.000000e-06
GCST010242_191	HDL cholesterol levels	5.000000e-08
GCST010244_116	Triglyceride levels	9.000000e-09
GCST010989_254	Body size at age 10	2.000000e-12
GCST011358_16	Academic attainment (English)	2.000000e-06
GCST011703_71	Smoking initiation	1.000000e-08

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0005670	smoking initiation
EFO:0004530	triglyceride measurement
EFO:0006312	mitochondrial DNA measurement
EFO:0007806	total cholesterol change measurement
EFO:0007874	gut microbiome measurement
EFO:0006941	grip strength measurement
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0011015	educational attainment

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
Acetaminophen	decreases expression, increases expression	3
trichostatin A	affects cotreatment, decreases expression	2
Air Pollutants	affects methylation, increases abundance, decreases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
belinostat	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Cisplatin	increases expression, affects cotreatment	1
Gold	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ozone	affects methylation, increases abundance	1
Thiram	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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