NMNAT3

Summary

NMNAT3 (nicotinamide nucleotide adenylyltransferase 3, HGNC:20989) is a protein-coding gene on chromosome 3q23, encoding Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (Q96T66). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP.

This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 349565 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001401600

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20989
Approved symbol	NMNAT3
Name	nicotinamide nucleotide adenylyltransferase 3
Location	3q23
Locus type	gene with protein product
Status	Approved
Aliases	PNAT3
Ensembl gene	ENSG00000163864
Ensembl biotype	protein_coding
OMIM	608702
Entrez	349565

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 28 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000296202, ENST00000339837, ENST00000413939, ENST00000505779, ENST00000506254, ENST00000507242, ENST00000509034, ENST00000509291, ENST00000509447, ENST00000509737, ENST00000511003, ENST00000511444, ENST00000512391, ENST00000514703, ENST00000642987, ENST00000643695, ENST00000645083, ENST00000645290, ENST00000645507, ENST00000646611, ENST00000647257, ENST00000704800, ENST00000873210, ENST00000873211, ENST00000873212, ENST00000873213, ENST00000873214, ENST00000873215, ENST00000873216, ENST00000916134, ENST00000944236, ENST00000944237, ENST00000944238, ENST00000944239, ENST00000944240, ENST00000944241

RefSeq mRNA: 22 — MANE Select: NM_001401600 NM_001200047, NM_001320510, NM_001320511, NM_001320512, NM_001320513, NM_001363968, NM_001401598, NM_001401599, NM_001401600, NM_001401601, NM_001401602, NM_001401603, NM_001401604, NM_001401605, NM_001401606, NM_001401607, NM_001401608, NM_001401609, NM_001401610, NM_001401611, NM_001401612, NM_178177

CCDS: CCDS3111, CCDS56282, CCDS82846, CCDS87145, CCDS87147, CCDS93397, CCDS93398

Canonical transcript exons

ENST00000704800 — 7 exons

Exon	Start	End
ENSE00001259240	139637963	139638062
ENSE00002022256	139634611	139634647
ENSE00002040766	139573598	139573680
ENSE00002072910	139677705	139677972
ENSE00003638971	139627616	139627764
ENSE00003682979	139578872	139579055
ENSE00003992499	139560191	139561392

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 90.60.

FANTOM5 (CAGE): breadth broad, TPM avg 2.9923 / max 96.2539, expressed in 876 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44802	2.7250	850
44803	0.1298	59
44801	0.1252	40
44800	0.0123	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.60	gold quality
left testis	UBERON:0004533	89.09	gold quality
oviduct epithelium	UBERON:0004804	88.61	gold quality
testis	UBERON:0000473	87.92	gold quality
right testis	UBERON:0004534	87.88	gold quality
sperm	CL:0000019	87.28	gold quality
upper arm skin	UBERON:0004263	87.10	silver quality
hindlimb stylopod muscle	UBERON:0004252	87.09	gold quality
pancreatic ductal cell	CL:0002079	86.71	silver quality
left ovary	UBERON:0002119	85.35	gold quality
skin of leg	UBERON:0001511	85.30	gold quality
muscle of leg	UBERON:0001383	84.81	gold quality
kidney epithelium	UBERON:0004819	84.71	gold quality
colonic epithelium	UBERON:0000397	84.44	gold quality
skeletal muscle organ	UBERON:0014892	84.44	gold quality
gastrocnemius	UBERON:0001388	84.18	gold quality
skin of abdomen	UBERON:0001416	84.15	gold quality
zone of skin	UBERON:0000014	83.99	gold quality
parotid gland	UBERON:0001831	83.85	silver quality
right ovary	UBERON:0002118	83.85	gold quality
skeletal muscle tissue	UBERON:0001134	83.83	gold quality
deltoid	UBERON:0001476	83.82	silver quality
ovary	UBERON:0000992	83.42	gold quality
vena cava	UBERON:0004087	83.34	silver quality
quadriceps femoris	UBERON:0001377	83.12	silver quality
tibialis anterior	UBERON:0001385	83.01	silver quality
right uterine tube	UBERON:0001302	82.99	gold quality
fallopian tube	UBERON:0003889	82.91	gold quality
muscle tissue	UBERON:0002385	82.88	gold quality
vastus lateralis	UBERON:0001379	82.28	silver quality

Single-cell (SCXA)

Detected in 36 experiment(s), a significant marker in 24.

Experiment	Marker?	Max mean expression
E-GEOD-150728	yes	9108.67
E-GEOD-89232	yes	8865.60
E-HCAD-31	yes	6057.23
E-MTAB-6678	yes	4574.50
E-GEOD-106540	yes	4450.27
E-GEOD-130473	yes	3856.85
E-MTAB-8205	yes	3101.94
E-MTAB-9067	yes	2848.46
E-HCAD-23	yes	2464.08
E-CURD-79	yes	1951.37
E-MTAB-5061	yes	1809.62
E-GEOD-124263	yes	1356.30
E-GEOD-75688	yes	1339.93
E-MTAB-7249	yes	1210.09
E-CURD-97	yes	1168.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting NMNAT3, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-3192-3P	98.62	65.80	970
HSA-MIR-619-3P	98.38	65.58	693
HSA-MIR-7111-3P	97.80	66.75	1467
HSA-MIR-490-3P	97.79	65.54	606
HSA-MIR-3684	96.90	67.51	293
HSA-MIR-4750-3P	96.65	64.38	512
HSA-MIR-514A-3P	96.43	67.77	1048
HSA-MIR-514B-3P	96.43	67.77	1048
HSA-MIR-4296	96.35	63.55	1233

Literature-anchored findings (GeneRIF, showing 5)

• NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are localized to the Golgi complex and the mitochondria (PMID:16118205)
• NMN binds before ATP with the mitochondrial isozyme NMNAT3. Only NMNAT3 utilizes ITP efficiently in place of ATP, and NMNH conversion to NADH by NMNAT1 and NMNAT3 occurs at similar rates. (PMID:17402747)
• analysis of isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases (PMID:20388704)
• Red blood cells represent the first human cell type with a remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent. (PMID:20457531)
• NMNAT3 is absent in mitochondria in human cells, and, akin to plants and yeast, cytosolic NAD maintains the mitochondrial NAD pool. (PMID:24155910)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	nmnat3	ENSDARG00000077034
mus_musculus	Nmnat3	ENSMUSG00000032456
rattus_norvegicus	Nmnat3	ENSRNOG00000013585

Paralogs (2): NMNAT2 (ENSG00000157064), NMNAT1 (ENSG00000173614)

Protein

Protein identifiers

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 — Q96T66 (reviewed: Q96T66)

Alternative names: Nicotinamide-nucleotide adenylyltransferase 3, Nicotinate-nucleotide adenylyltransferase 3, Pyridine nucleotide adenylyltransferase 3

All UniProt accessions (11): A0A2R8Y594, A0A2R8YE08, A0A2R8YEU0, A0A2R8YFG2, A0A2R8YGL3, D6R975, D6REC8, D6RGG8, D6RGH7, D6RHV4, Q96T66

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD(+), NADH, NaAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following injury. May be involved in the maintenance of axonal integrity. Also functions as a stress-response chaperone protein that prevents toxic aggregation of proteins; this function may be independent of its NAD(+) synthesis activity.

Subunit / interactions. Homotetramer.

Subcellular location. Mitochondrion.

Tissue specificity. Expressed in lung and spleen with lower levels in placenta and kidney.

Activity regulation. Activity is strongly inhibited by galotannin. Inhibited by P1-(adenosine-5’)-P4-(nicotinic-acid-riboside-5’)-tetraphosphate (Nap4AD).

Cofactor. Divalent metal cations. Mg(2+) confers the highest activity.

Pathway. Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1. Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1.

Similarity. Belongs to the eukaryotic NMN adenylyltransferase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96T66-1	1	yes
Q96T66-2	2
Q96T66-3	3

RefSeq proteins (22): NP_001186976, NP_001307439, NP_001307440, NP_001307441, NP_001307442, NP_001350897, NP_001388527, NP_001388528, NP_001388529, NP_001388530, NP_001388531, NP_001388532, NP_001388533, NP_001388534, NP_001388535, NP_001388536, NP_001388537, NP_001388538, NP_001388539, NP_001388540, NP_001388541, NP_835471 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004821	Cyt_trans-like	Domain
IPR005248	NadD/NMNAT	Family
IPR014729	Rossmann-like_a/b/a_fold	Homologous_superfamily
IPR045094	NMNAT_euk	Family
IPR051182	Euk_NMN_adenylyltrnsfrase	Family

Pfam: PF01467

Enzyme classification (BRENDA):

• EC 2.7.7.1 — nicotinamide-nucleotide adenylyltransferase (BRENDA: 35 organisms, 118 substrates, 59 inhibitors, 203 Km, 57 kcat entries)
• EC 2.7.7.18 — nicotinate-nucleotide adenylyltransferase (BRENDA: 18 organisms, 31 substrates, 52 inhibitors, 74 Km, 22 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
ATP	0.0008–3.5	53
NMN	—	37
NICOTINAMIDE RIBONUCLEOTIDE	0.0029–178.5	32
ATP	0.0017–4	22
DIPHOSPHATE	0.083–166.6	13
NICOTINATE BETA-D-RIBONUCLEOTIDE	0.0358–2.8	12
NAD+	0.023–412.2	11
NICOTINIC ACID MONONUCLEOTIDE	0.0145–0.15	11
NMNH	0.13–0.304	6
DIPHOSPHATE	0.083–4.2	5
NAD+	0.069–1.7	5
NICOTINATE RIBONUCLEOTIDE	0.025–1.3	5
NICOTINATE RIBONUCLEOTIDE	0.08–5	4
NICOTINIC ACID RIBONUCLEOTIDE	0.011–0.323	4
NICOTINAMIDE MONONUCLEOTIDE	0.021–0.7	3

Catalyzed reactions (Rhea), 2 shown:

• beta-nicotinamide D-ribonucleotide + ATP + H(+) = diphosphate + NAD(+) (RHEA:21360)
• nicotinate beta-D-ribonucleotide + ATP + H(+) = deamido-NAD(+) + diphosphate (RHEA:22860)

UniProt features (40 total): binding site 14, helix 12, strand 8, splice variant 2, turn 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
1NUP	X-RAY DIFFRACTION	1.9
1NUQ	X-RAY DIFFRACTION	1.9
1NUT	X-RAY DIFFRACTION	1.9
1NUU	X-RAY DIFFRACTION	1.9
1NUR	X-RAY DIFFRACTION	2.15
1NUS	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96T66-F1	89.58	0.81

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 (14): 14; 147; 148; 167; 198; 203–206 (in other chain); 15; 22 (in other chain); 56 (in other chain); 90; 93; 135 …

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-196807	Nicotinate metabolism

MSigDB gene sets: 110 (showing top): GOBP_RESPONSE_TO_PEPTIDE, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_SALVAGE, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOCC_NEURON_PROJECTION, DOUGLAS_BMI1_TARGETS_UP, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_RESPONSE_TO_TUMOR_NECROSIS_FACTOR, EVI1_04, GOBP_NUCLEOTIDE_SALVAGE, GOBP_METABOLIC_COMPOUND_SALVAGE

GO Biological Process (10): nicotinamide metabolic process (GO:0006769), nucleotide biosynthetic process (GO:0009165), NAD+ biosynthetic process (GO:0009435), response to wounding (GO:0009611), NAD+ biosynthetic process via the salvage pathway (GO:0034355), response to tumor necrosis factor (GO:0034612), tRNA processing (GO:0008033), biosynthetic process (GO:0009058), pyridine nucleotide biosynthetic process (GO:0019363), organophosphate biosynthetic process (GO:0090407)

GO Molecular Function (9): nicotinamide-nucleotide adenylyltransferase activity (GO:0000309), nicotinate-nucleotide adenylyltransferase activity (GO:0004515), ATP binding (GO:0005524), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), tRNA-uridine aminocarboxypropyltransferase activity (GO:0016432), transferase activity (GO:0016740), nucleotidyltransferase activity (GO:0016779), adenylyltransferase activity (GO:0070566)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), axon (GO:0030424), neuronal cell body (GO:0043025)

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
adenylyltransferase activity	2
alkaloid metabolic process	1
pyridine-containing compound metabolic process	1
nucleotide metabolic process	1
nucleoside phosphate biosynthetic process	1
purine nucleotide biosynthetic process	1
nicotinamide nucleotide biosynthetic process	1
NAD+ metabolic process	1
response to stress	1
NAD+ biosynthetic process	1
pyridine nucleotide salvage	1
purine nucleotide salvage	1
response to cytokine	1
RNA processing	1
tRNA metabolic process	1
metabolic process	1
nucleotide biosynthetic process	1
pyridine-containing compound biosynthetic process	1
biosynthetic process	1
organophosphate metabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
transferase activity, transferring alkyl or aryl (other than methyl) groups	1
catalytic activity, acting on a tRNA	1
catalytic activity	1
transferase activity, transferring phosphorus-containing groups	1
nucleotidyltransferase activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
neuron projection	1
somatodendritic compartment	1
cell body	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

5 interactions, top by confidence:

A	B	Type	Score
HS2ST1	SLC7A1	psi-mi:“MI:0914”(association)	0.730
DCX	DCLK1	psi-mi:“MI:0914”(association)	0.530
NMNAT3	HSPA8	psi-mi:“MI:0914”(association)	0.350
HS2ST1	DENND11	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): NMNAT3 (Affinity Capture-MS), NMNAT3 (Affinity Capture-MS), NMNAT3 (Affinity Capture-MS), NMNAT3 (Affinity Capture-MS), SPTB (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), NMNAT3 (Proximity Label-MS), NMNAT3 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), SPTB (Affinity Capture-MS), NMNAT3 (Affinity Capture-MS), NMNAT3 (Affinity Capture-MS), RBPMS (Affinity Capture-MS)

ESM2 similar proteins: A8X9U4, B0JYW5, B3MZN7, B4PYH5, F4K687, F4NZ38, G5EDZ2, O01824, O14242, O43976, O65583, O74386, O74421, P04803, P09556, P56523, P91851, Q09899, Q0DWH7, Q0VD50, Q16GH0, Q16P90, Q21657, Q25566, Q290Z2, Q295P6, Q503L4, Q66HC4, Q68EH8, Q6NWG4, Q7K3B9, Q8SRV7, Q8VYB2, Q96T66, Q99JR6, Q9CYK1, Q9D9M5, Q9EPA7, Q9FKS0, Q9HAN9

Diamond homologs: A4IH61, A8ZXR7, B0TGU9, F4K687, Q0HA29, Q0VC59, Q0VD50, Q5RBL5, Q6PC93, Q7UFN6, Q8BNJ3, Q96T66, Q99JR6, Q9BZQ4, Q9EPA7, Q9HAN9, Q9UT53, Q9VC03, P53204, P91851, Q06178, Q0DWH7, B5EEI3, A3DEU4, A6V0A4, B0K413, B0KAB6, B0KJY4, B1J134, B1YKR5, B4U7J9, B9M0D7, C1A4H9, Q1AVU4, Q2JNW7, Q2JWZ1, Q2LU86, Q2S0V3, Q3A1E1, Q3MAP9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

977 predictions. Top by Δscore:

Variant	Effect	Δscore
3:139561390:CAG:C	acceptor_gain	1.0000
3:139561388:CACAG:C	acceptor_gain	0.9900
3:139561389:ACAG:A	acceptor_gain	0.9900
3:139561390:CAGC:C	acceptor_gain	0.9900
3:139561391:AG:A	acceptor_gain	0.9900
3:139561392:GC:G	acceptor_loss	0.9900
3:139561393:C:CA	acceptor_loss	0.9900
3:139561393:C:CC	acceptor_gain	0.9900
3:139561394:T:A	acceptor_loss	0.9900
3:139578914:T:A	donor_gain	0.9900
3:139579051:CATTC:C	acceptor_gain	0.9900
3:139579053:TTC:T	acceptor_gain	0.9900
3:139627611:CTGA:C	donor_loss	0.9900
3:139627613:GA:G	donor_loss	0.9900
3:139627615:CCTGT:C	donor_loss	0.9900
3:139578910:A:AC	donor_gain	0.9800
3:139578911:C:CC	donor_gain	0.9800
3:139579053:TTCC:T	acceptor_loss	0.9800
3:139579054:TC:T	acceptor_gain	0.9800
3:139579055:CC:C	acceptor_gain	0.9800
3:139579056:C:CC	acceptor_gain	0.9800
3:139623312:T:TA	donor_gain	0.9800
3:139578862:C:CT	donor_gain	0.9700
3:139578863:T:TT	donor_gain	0.9700
3:139578911:CT:C	donor_gain	0.9600
3:139579052:ATTCC:A	acceptor_gain	0.9600
3:139579053:TTCCT:T	acceptor_gain	0.9600
3:139627637:TGGC:T	donor_gain	0.9600
3:139561396:C:CT	acceptor_gain	0.9500
3:139561402:C:CT	acceptor_gain	0.9500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000075823 (3:139566970 T>C,G), RS1000078997 (3:139657855 G>T), RS1000156863 (3:139561598 A>G), RS1000187896 (3:139625010 G>A), RS1000214650 (3:139670366 G>C), RS1000216602 (3:139570608 C>T), RS1000282172 (3:139663131 G>A), RS1000327149 (3:139630501 T>G), RS1000335442 (3:139591269 G>A), RS1000356577 (3:139663881 T>C), RS1000369641 (3:139571777 A>G), RS1000380932 (3:139637726 G>A), RS1000527845 (3:139657086 G>A), RS1000531388 (3:139611269 TAGG>T), RS1000552465 (3:139591388 G>A,C)

Disease associations

OMIM: gene MIM:608702 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003854_36	Gut microbiota (functional units)	2.000000e-08
GCST008755_7	Phenylephrine infusion rate during anesthesia	2.000000e-06
GCST009391_426	Metabolite levels	3.000000e-06
GCST010916_10	Proportion of activated microglia (inferior temporal cortex)	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0010384	phosphatidylcholine 38:2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	4
Valproic Acid	increases expression, increases methylation	3
Nickel	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
aflatoxin B2	increases methylation	1
dinophysistoxin 1	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, increases expression	1
Decitabine	decreases expression, decreases reaction	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Hydrogen Peroxide	increases expression	1
Lead	affects expression	1
Rotenone	increases expression	1
Smoke	decreases expression, decreases reaction	1
Triclosan	increases expression	1
Urethane	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Sodium Selenite	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TA78	HAP1 NMNAT3 (-) 1	Cancer cell line	Male
CVCL_XQ99	HAP1 NMNAT3 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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