NAGK

Summary

NAGK (N-acetylglucosamine kinase, HGNC:17174) is a protein-coding gene on chromosome 2p13.3, encoding N-acetyl-D-glucosamine kinase (Q9UJ70). Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate.

This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars.

Source: NCBI Gene 55577 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 87 total
• Druggable target: yes
• MANE Select transcript: NM_017567

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17174
Approved symbol	NAGK
Name	N-acetylglucosamine kinase
Location	2p13.3
Locus type	gene with protein product
Status	Approved
Aliases	GNK
Ensembl gene	ENSG00000124357
Ensembl biotype	protein_coding
OMIM	606828
Entrez	55577

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 14 protein_coding, 14 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000244204, ENST00000418807, ENST00000428360, ENST00000443872, ENST00000443938, ENST00000450272, ENST00000455197, ENST00000455662, ENST00000464638, ENST00000465105, ENST00000468601, ENST00000472519, ENST00000475709, ENST00000478659, ENST00000479854, ENST00000480411, ENST00000484984, ENST00000489309, ENST00000490998, ENST00000493102, ENST00000497690, ENST00000498022, ENST00000524537, ENST00000524736, ENST00000529236, ENST00000531799, ENST00000531934, ENST00000533981, ENST00000613852, ENST00000868350, ENST00000868351, ENST00000936945, ENST00000951785

RefSeq mRNA: 4 — MANE Select: NM_017567 NM_001330425, NM_001330426, NM_001365466, NM_017567

CCDS: CCDS33220, CCDS82466

Canonical transcript exons

ENST00000244204 — 10 exons

Exon	Start	End
ENSE00003551759	71070502	71070586
ENSE00003584948	71070741	71070839
ENSE00003686072	71072641	71072751
ENSE00003687087	71068648	71068712
ENSE00003703162	71078318	71079808
ENSE00003705179	71077558	71077636
ENSE00003706129	71073482	71073594
ENSE00003706346	71071686	71071827
ENSE00003707458	71076604	71076701
ENSE00003708324	71075555	71075642

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 99.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.3374 / max 475.1155, expressed in 1817 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20870	36.2847	1816
20867	4.7442	1724
20868	3.2884	1463
20869	2.6344	1328
20871	0.2720	116
20872	0.1136	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.37	gold quality
mononuclear cell	CL:0000842	99.25	gold quality
leukocyte	CL:0000738	99.21	gold quality
lower esophagus mucosa	UBERON:0035834	99.12	gold quality
granulocyte	CL:0000094	98.73	gold quality
esophagus squamous epithelium	UBERON:0006920	98.68	gold quality
epithelium of esophagus	UBERON:0001976	98.46	gold quality
esophagus mucosa	UBERON:0002469	98.45	gold quality
oral cavity	UBERON:0000167	98.34	gold quality
spleen	UBERON:0002106	98.03	gold quality
blood	UBERON:0000178	97.74	gold quality
stromal cell of endometrium	CL:0002255	97.47	gold quality
lymph node	UBERON:0000029	97.36	gold quality
gall bladder	UBERON:0002110	97.16	gold quality
tonsil	UBERON:0002372	97.15	gold quality
pharyngeal mucosa	UBERON:0000355	97.09	gold quality
skin of abdomen	UBERON:0001416	96.91	gold quality
mouth mucosa	UBERON:0003729	96.91	gold quality
saliva-secreting gland	UBERON:0001044	96.90	gold quality
minor salivary gland	UBERON:0001830	96.84	gold quality
vermiform appendix	UBERON:0001154	96.81	gold quality
pituitary gland	UBERON:0000007	96.76	gold quality
cortical plate	UBERON:0005343	96.71	gold quality
right coronary artery	UBERON:0001625	96.68	gold quality
esophagus	UBERON:0001043	96.67	gold quality
adenohypophysis	UBERON:0002196	96.57	gold quality
ectocervix	UBERON:0012249	96.57	gold quality
parotid gland	UBERON:0001831	96.50	gold quality
skin of leg	UBERON:0001511	96.47	gold quality
mammalian vulva	UBERON:0000997	96.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.21

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 11)

• The cell-free system was validated for MNK activity, and it revealed that mutations in one enzymatic domain (in MNK, A631V, M712T) affected not only that domain’s enzyme activity, but also the activity of the other domain. (PMID:15987957)
• Phosphorylation of Tyr205 may modulate GlcNAc kinase activity and/or specificity. (PMID:17010375)
• Participants with homozygous mutations in the N-acetylmannosamine kinase (GNK) domain have an earlier disease onset than heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine 2-epimerase (GNE) and GNK domains. (PMID:22507750)
• Data shows associations between NAGK, speckle, paraspeckle and general transcription factor suggesting its regulatory roles in gene expression. (PMID:25921606)
• results indicate that the NAGK-dynein interaction with the involvements of Lis1 and NudE1 plays an important role in prophase nuclear envelope breakdown (NEB) and metaphase MT-KT attachment during eukaryotic cell division. (PMID:27646688)
• In a screen for human kinases that regulate Xenopus laevis embryogenesis, we identified Nagk and other components of the UDP-GlcNAc glycosylation salvage pathway as regulators of anteroposterior patterning and Wnt signaling. (PMID:30904594)
• Implementation of the plasma MYCN/NAGK ratio to detect MYCN amplification in patients with neuroblastoma. (PMID:32896084)
• N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein Motor Complex and Promotes Cell Migration. (PMID:33374456)
• Glutamine deprivation triggers NAGK-dependent hexosamine salvage. (PMID:34844667)
• N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein Polypeptide N Interaction Promotes Axodendritic Branching in Neurons via Dynein-Mediated Microtubule Transport. (PMID:37511433)
• The Immunometabolic Gene N-Acetylglucosamine Kinase Is Uniquely Involved in the Heritability of Multiple Sclerosis Severity. (PMID:38612613)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	nagk	ENSDARG00000099116
mus_musculus	Nagk	ENSMUSG00000034744
rattus_norvegicus	Nagk	ENSRNOG00000013911
drosophila_melanogaster	Nagk	FBGN0038321
caenorhabditis_elegans		WBGENE00021056
caenorhabditis_elegans		WBGENE00021057

Protein

Protein identifiers

N-acetyl-D-glucosamine kinase — Q9UJ70 (reviewed: Q9UJ70)

Alternative names: GlcNAc kinase, Muramyl dipeptide kinase, N-acetyl-D-mannosamine kinase

All UniProt accessions (12): A0A384N6G7, C9JEV6, C9JMR7, E9PPU6, H0YC94, H0YE82, H0YEB7, H0YF44, H7C1L7, H7C286, H7C3G9, Q9UJ70

UniProt curated annotations — full annotation on UniProt →

Function. Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has N-acetylmannosamine (ManNAc) kinase activity. Also involved in innate immunity by promoting detection of bacterial peptidoglycan by NOD2: acts by catalyzing phosphorylation of muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, to generate 6-O-phospho-muramyl dipeptide, which acts as a direct ligand for NOD2.

Subunit / interactions. Homodimer.

Tissue specificity. Ubiquitous.

Pathway. Amino-sugar metabolism; N-acetylneuraminate degradation.

Similarity. Belongs to the eukaryotic-type N-acetylglucosamine kinase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UJ70-1	1	yes
Q9UJ70-2	2

RefSeq proteins (4): NP_001317354, NP_001317355, NP_001352395, NP_060037* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002731	ATPase_BadF	Domain
IPR039758	NAGK-like	Family
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF01869

Enzyme classification (BRENDA):

• EC 2.7.1.59 — N-acetylglucosamine kinase (BRENDA: 14 organisms, 41 substrates, 31 inhibitors, 48 Km, 7 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-ACETYL-D-GLUCOSAMINE	0.0001–1.33	18
ATP	0.0001–1.82	14
D-GLUCOSE	0.0011–600	8
N-ACETYL-D-MANNOSAMINE	0.95–1	3
D-MANNOSE	0.426–67	2
ITP	0.0003	1
N-ACETYL-D-GALACTOSAMINE	0.268	1

Catalyzed reactions (Rhea), 3 shown:

• N-acetyl-D-glucosamine + ATP = N-acetyl-D-glucosamine 6-phosphate + ADP + H(+) (RHEA:17417)
• aldehydo-N-acetyl-D-mannosamine + ATP = aldehydo-N-acetyl-D-mannosamine 6-phosphate + ADP + H(+) (RHEA:25253)
• N-acetyl-D-muramoyl-L-alanyl-D-isoglutamine + ATP = 6-O-phospho-N-acetyl-D-muramoyl-L-alanyl-D-isoglutamine + ADP + H(+) (RHEA:75935)

UniProt features (58 total): helix 16, strand 14, binding site 10, sequence conflict 5, turn 4, modified residue 3, sequence variant 2, initiator methionine 1, chain 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2CH5	X-RAY DIFFRACTION	1.9
2CH6	X-RAY DIFFRACTION	2.72

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJ70-F1	94.92	0.90

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 (10): 271; 275; 13; 36; 107; 127; 129–130; 145–147; 152; 214

Post-translational modifications (3): 2, 76, 205

Mutagenesis-validated functional residues (1):

Position	Phenotype
107	abolished ability to phosphorylate muramyl dipeptide.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-446210	Synthesis of UDP-N-acetyl-glucosamine
R-HSA-392499	Metabolism of proteins
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-446219	Synthesis of substrates in N-glycan biosythesis
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 237 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_SIGNALING_PATHWAY, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_PHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_AMINO_SUGAR_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_RESPONSE_TO_MURAMYL_DIPEPTIDE, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (18): N-acetylglucosamine metabolic process (GO:0006044), N-acetylglucosamine catabolic process (GO:0006046), UDP-N-acetylglucosamine biosynthetic process (GO:0006048), N-acetylmannosamine metabolic process (GO:0006051), N-acetylneuraminate catabolic process (GO:0019262), response to muramyl dipeptide (GO:0032495), defense response to bacterium (GO:0042742), innate immune response (GO:0045087), positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434), immune system process (GO:0002376), canonical NF-kappaB signal transduction (GO:0007249), p38MAPK cascade (GO:0038066), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), carbohydrate phosphorylation (GO:0046835), nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431), protein K63-linked ubiquitination (GO:0070534), protein linear polyubiquitination (GO:0097039)

GO Molecular Function (8): ATP binding (GO:0005524), N-acylmannosamine kinase activity (GO:0009384), N-acetylglucosamine kinase activity (GO:0045127), muramyl dipeptide kinase activity (GO:0160047), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1
Asparagine N-linked glycosylation	1
Post-translational protein modification	1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
amino sugar metabolic process	2
canonical NF-kappaB signal transduction	2
regulation of canonical NF-kappaB signal transduction	2
protein polyubiquitination	2
carbohydrate kinase activity	2
N-acetylglucosamine metabolic process	1
glucosamine-containing compound catabolic process	1
UDP-N-acetylglucosamine metabolic process	1
nucleotide-sugar biosynthetic process	1
amino sugar biosynthetic process	1
N-acetylneuraminate metabolic process	1
amino sugar catabolic process	1
carboxylic acid catabolic process	1
response to nitrogen compound	1
response to oxygen-containing compound	1
defense response	1
response to bacterium	1
immune response	1
defense response to symbiont	1
positive regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	1
nucleotide-binding oligomerization domain containing 2 signaling pathway	1
regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	1
biological_process	1
intracellular signaling cassette	1
MAPK cascade	1
positive regulation of intracellular signal transduction	1
negative regulation of intracellular signal transduction	1
carbohydrate metabolic process	1
phosphorylation	1
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
phosphotransferase activity, alcohol group as acceptor	1
kinase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
cytoplasm	1

Protein interactions and networks

STRING

1016 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAGK	GNPNAT1	Q96EK6	791
NAGK	PGM3	O95394	689
NAGK	GFPT1	Q06210	679
NAGK	GFPT2	O94808	629
NAGK	UAP1	Q16222	626
NAGK	GNPDA1	P46926	623
NAGK	H3BQ15	H3BQ15	607
NAGK	AMDHD2	Q9Y303	605
NAGK	GNE	Q9Y223	579
NAGK	NAGS	Q8N159	578
NAGK	GNPDA2	Q8TDQ7	578
NAGK	RENBP	P51606	513
NAGK	GALE	Q14376	496
NAGK	HK1	P19367	479
NAGK	DYNLRB1	Q9NP97	461

IntAct

131 interactions, top by confidence:

A	B	Type	Score
RBBP5	KMT2D	psi-mi:“MI:0914”(association)	0.840
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NAGK	CDKN2C	psi-mi:“MI:0915”(physical association)	0.670
CDKN2C	NAGK	psi-mi:“MI:0915”(physical association)	0.670
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
STIM2	PRKAB2	psi-mi:“MI:0914”(association)	0.640
WIPI2	BNIP3L	psi-mi:“MI:0914”(association)	0.640
NAGK	LNX1	psi-mi:“MI:0915”(physical association)	0.630
NAGK	Snrpn	psi-mi:“MI:0915”(physical association)	0.600
NAGK	Snrpn	psi-mi:“MI:0407”(direct interaction)	0.600
	NAGK	psi-mi:“MI:0915”(physical association)	0.560
NAGK	SDCBP	psi-mi:“MI:0915”(physical association)	0.560
NAGK	ACTR10	psi-mi:“MI:0915”(physical association)	0.560
DACH1	NAGK	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	NAGK	psi-mi:“MI:0915”(physical association)	0.560
NAGK	MEOX1	psi-mi:“MI:0915”(physical association)	0.560
REL	NAGK	psi-mi:“MI:0915”(physical association)	0.560
TCF12	NAGK	psi-mi:“MI:0915”(physical association)	0.560
ACTR10	NAGK	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (213): NAGK (Two-hybrid), NAGK (Two-hybrid), NAGK (Two-hybrid), NAGK (Two-hybrid), NAGK (Two-hybrid), NAGK (Two-hybrid), NAGK (Two-hybrid), NAGK (Two-hybrid), ACTR10 (Two-hybrid), NAGK (Affinity Capture-MS), NAGK (Affinity Capture-MS), NAGK (Affinity Capture-MS), NAGK (Affinity Capture-MS), NAGK (Affinity Capture-MS), NAGK (Affinity Capture-MS)

ESM2 similar proteins: A1L1L6, B1H369, B1WC68, O00764, O35331, O46560, O54956, O95803, P10155, P38024, P52848, P56965, P58710, P81799, P82197, Q02353, Q0II59, Q0VCB2, Q2HJF8, Q2QNG7, Q3SZM9, Q3U129, Q3UHN9, Q4R4U1, Q5R5F8, Q5U4X8, Q5ZM83, Q6GPA7, Q6GQK9, Q6GV29, Q6NVC5, Q7SXM0, Q80YV4, Q8BG51, Q8IXI2, Q8K183, Q8VH37, Q91WA3, Q923S8, Q969T7

Diamond homologs: P81799, P86200, Q3SZM9, Q9QZ08, Q9UJ70

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	68
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1615 predictions. Top by Δscore:

Variant	Effect	Δscore
2:71068710:GGG:G	donor_gain	1.0000
2:71068711:GGG:G	donor_gain	1.0000
2:71070728:T:A	acceptor_gain	1.0000
2:71070732:T:TA	acceptor_gain	1.0000
2:71070733:G:A	acceptor_gain	1.0000
2:71071823:GGATG:G	donor_gain	1.0000
2:71071824:GATG:G	donor_gain	1.0000
2:71071824:GATGG:G	donor_gain	1.0000
2:71071825:ATG:A	donor_loss	1.0000
2:71071827:GGTGA:G	donor_loss	1.0000
2:71071828:GTGAG:G	donor_loss	1.0000
2:71071829:T:A	donor_loss	1.0000
2:71071833:G:GT	donor_gain	1.0000
2:71076600:CCA:C	acceptor_loss	1.0000
2:71076601:CA:C	acceptor_loss	1.0000
2:71076602:A:AC	acceptor_loss	1.0000
2:71076603:G:GT	acceptor_loss	1.0000
2:71076603:GGT:G	acceptor_gain	1.0000
2:71076703:T:A	donor_loss	1.0000
2:71076704:GAG:G	donor_loss	1.0000
2:71077557:GGT:G	acceptor_gain	1.0000
2:71077632:GGAAG:G	donor_gain	1.0000
2:71077633:G:GT	donor_gain	1.0000
2:71077633:GAAG:G	donor_gain	1.0000
2:71077634:A:T	donor_gain	1.0000
2:71077634:AAGG:A	donor_loss	1.0000
2:71077635:AGGT:A	donor_loss	1.0000
2:71077636:GGTGA:G	donor_loss	1.0000
2:71077637:G:GA	donor_loss	1.0000
2:71077637:G:GG	donor_gain	1.0000

AlphaMissense

2248 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:71073502:G:C	A163P	0.991
2:71077609:T:A	W273R	0.991
2:71077609:T:C	W273R	0.991
2:71071698:A:C	S76R	0.989
2:71071700:C:A	S76R	0.989
2:71071700:C:G	S76R	0.989
2:71072678:C:G	C131W	0.988
2:71072748:T:C	S155P	0.988
2:71076651:G:T	G239W	0.988
2:71075626:C:G	C217W	0.987
2:71071767:A:C	S99R	0.986
2:71071769:T:A	S99R	0.986
2:71071769:T:G	S99R	0.986
2:71072739:G:C	D152H	0.986
2:71072740:A:T	D152V	0.986
2:71072670:T:C	S129P	0.985
2:71072721:T:A	W146R	0.984
2:71072721:T:C	W146R	0.984
2:71072745:G:C	G154R	0.983
2:71072724:G:C	G147R	0.982
2:71072740:A:C	D152A	0.982
2:71072676:T:C	C131R	0.981
2:71072683:T:C	L133P	0.981
2:71076648:G:C	A238P	0.980
2:71076664:G:A	G243D	0.980
2:71075616:C:A	A214D	0.979
2:71068699:G:A	G6R	0.978
2:71068699:G:C	G6R	0.978
2:71070792:G:C	A56P	0.978
2:71072662:G:A	G126E	0.978

dbSNP variants (sampled 300 via entrez): RS1000022345 (2:71069491 A>T), RS1000033671 (2:71069089 T>C), RS1000087760 (2:71075483 G>A,T), RS1000592129 (2:71075123 A>G), RS1000696839 (2:71077008 G>A), RS1000745863 (2:71077356 T>C), RS1001464675 (2:71066558 A>C), RS1001699101 (2:71068290 C>T), RS1001835503 (2:71076870 T>G), RS1002047726 (2:71066692 G>A), RS1002101997 (2:71072619 G>A), RS1002535324 (2:71071398 A>T), RS1002550516 (2:71077067 C>T), RS1002600326 (2:71072377 G>A), RS1002838038 (2:71075399 T>C)

Disease associations

OMIM: gene MIM:606828 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002380_1	Erythema nodosum in inflammatory bowel disease	3.000000e-06
GCST006585_2021	Blood protein levels	2.000000e-57

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295978 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Cisplatin	increases expression	1
Dinitrochlorobenzene	affects binding	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118660	Binding	Binding affinity to NAGK in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1NW	Abcam K-562 NAGK KO	Cancer cell line	Female
CVCL_DX36	HAP1 GALK2 (-) NAGK (-)	Cancer cell line	Male
CVCL_SZ84	HAP1 NAGK (-) 1	Cancer cell line	Male
CVCL_UQ98	Abcam Jurkat NAGK KO	Cancer cell line	Male
CVCL_XQ86	HAP1 NAGK (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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