QPRT

Summary

QPRT (quinolinate phosphoribosyltransferase, HGNC:9755) is a protein-coding gene on chromosome 16p11.2, encoding Nicotinate-nucleotide pyrophosphorylase [carboxylating] (Q15274). Involved in the catabolism of quinolinic acid (QA).

This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer’s disease, and Huntington’s disease. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 23475 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_014298

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9755
Approved symbol	QPRT
Name	quinolinate phosphoribosyltransferase
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	QPRTase
Ensembl gene	ENSG00000103485
Ensembl biotype	protein_coding
OMIM	606248
Entrez	23475

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 22 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000219771, ENST00000395384, ENST00000449759, ENST00000562473, ENST00000564967, ENST00000907261, ENST00000907262, ENST00000907263, ENST00000907264, ENST00000907265, ENST00000907266, ENST00000907267, ENST00000907268, ENST00000907269, ENST00000907270, ENST00000907271, ENST00000907272, ENST00000907273, ENST00000907274, ENST00000907275, ENST00000907276, ENST00000933449, ENST00000933450, ENST00000943553

RefSeq mRNA: 3 — MANE Select: NM_014298 NM_001318249, NM_001318250, NM_014298

CCDS: CCDS10651, CCDS81965

Canonical transcript exons

ENST00000395384 — 4 exons

Exon	Start	End
ENSE00001298023	29697199	29698699
ENSE00001895091	29679180	29679210
ENSE00002681391	29694664	29695199
ENSE00003532198	29696996	29697127

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 98.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.8426 / max 500.5065, expressed in 1430 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153473	50.8426	1430

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	98.15	gold quality
right lobe of liver	UBERON:0001114	97.75	gold quality
right adrenal gland	UBERON:0001233	97.67	gold quality
left adrenal gland	UBERON:0001234	96.86	gold quality
adrenal cortex	UBERON:0001235	96.78	gold quality
corpus epididymis	UBERON:0004359	96.76	gold quality
left adrenal gland cortex	UBERON:0035825	96.69	gold quality
stromal cell of endometrium	CL:0002255	96.21	gold quality
liver	UBERON:0002107	95.99	gold quality
adrenal tissue	UBERON:0018303	95.88	gold quality
adrenal gland	UBERON:0002369	95.62	gold quality
right uterine tube	UBERON:0001302	95.60	gold quality
adult mammalian kidney	UBERON:0000082	95.02	gold quality
renal medulla	UBERON:0000362	94.10	gold quality
kidney	UBERON:0002113	94.05	gold quality
nephron tubule	UBERON:0001231	94.02	gold quality
parotid gland	UBERON:0001831	93.80	gold quality
caput epididymis	UBERON:0004358	93.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.58	gold quality
kidney epithelium	UBERON:0004819	92.79	gold quality
buccal mucosa cell	CL:0002336	92.78	gold quality
cortex of kidney	UBERON:0001225	92.30	gold quality
body of pancreas	UBERON:0001150	92.00	gold quality
endocervix	UBERON:0000458	91.78	gold quality
metanephros	UBERON:0000081	91.34	gold quality
metanephros cortex	UBERON:0010533	91.28	gold quality
jejunal mucosa	UBERON:0000399	90.73	gold quality
mucosa of transverse colon	UBERON:0004991	90.58	gold quality
duodenum	UBERON:0002114	90.56	gold quality
seminal vesicle	UBERON:0000998	90.42	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-8410	yes	241.31
E-MTAB-6701	yes	119.36
E-HCAD-10	yes	47.76
E-HCAD-13	yes	12.03
E-MTAB-8271	yes	8.68
E-CURD-112	yes	5.78
E-GEOD-124472	no	1019.35
E-GEOD-114530	no	851.92
E-MTAB-8221	no	167.95
E-MTAB-5061	no	3.08
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting QPRT, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126

Literature-anchored findings (GeneRIF, showing 9)

• QPRT is a potential new marker for the immunohistochemical screening of follicular thyroid nodules. (PMID:19321014)
• Report of the crystal structure of human QPRT bound to its inhibitor phthalic acid (PHT) and kinetic analysis of PHT inhibition of human QPRT. (PMID:24038671)
• The structural features, size distribution, heat aggregation and ITC studies of the full-length enzyme and the enzyme lacking helix alpha1 strongly suggest that human QPRT acts as a hexamer for cooperative reactant binding via three dimeric subunits and maintaining stability. (PMID:26805589)
• WT1 knock-down gave a corresponding decrease in QPRT gene and protein expression. Chromatin-immunoprecipitation revealed WT1 binding to a conserved site in the first intron of the QPRT gene. (PMID:27889611)
• Hepatic QPRT thus likely served as a cellular factor that dampened productive hepatitis c virus replication. (PMID:28724915)
• Our data suggest that QPRT may play an important role in the pathogenesis of autism spectrum disorders in Chr16p11.2 deletion carriers. (PMID:30443311)
• Targeting NAD(+) Biosynthesis Overcomes Panobinostat and Bortezomib-Induced Malignant Glioma Resistance. (PMID:32238439)
• Silencing DSCAM-AS1 suppresses the growth and invasion of ER-positive breast cancer cells by downregulating both DCTPP1 and QPRT. (PMID:32716908)
• A comprehensive analysis of the role of QPRT in breast cancer. (PMID:37723185)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Qprt	ENSMUSG00000030674
rattus_norvegicus	Qprt	ENSRNOG00000016980

Protein

Protein identifiers

Nicotinate-nucleotide pyrophosphorylase [carboxylating] — Q15274 (reviewed: Q15274)

Alternative names: Quinolinate phosphoribosyltransferase [decarboxylating]

All UniProt accessions (2): Q15274, H3BP73

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the catabolism of quinolinic acid (QA).

Subunit / interactions. Hexamer formed by 3 homodimers.

Activity regulation. Activity toward QA is slightly repressed by phosphoribosylpyrophosphate (PRPP) in both a competitive and a non-competitive manner. Competitively inhibited by phthalic acid (PHT).

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

Similarity. Belongs to the NadC/ModD family.

RefSeq proteins (3): NP_001305178, NP_001305179, NP_055113* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002638	Quinolinate_PRibosylTrfase_C	Domain
IPR004393	NadC	Family
IPR013785	Aldolase_TIM	Homologous_superfamily
IPR022412	Quinolinate_PRibosylTrfase_N	Domain
IPR027277	NadC/ModD	Family
IPR036068	Nicotinate_pribotase-like_C	Homologous_superfamily
IPR037128	Quinolinate_PRibosylTase_N_sf	Homologous_superfamily

Pfam: PF01729, PF02749

Enzyme classification (BRENDA):

• EC 2.4.2.19 — nicotinate-nucleotide diphosphorylase (carboxylating) (BRENDA: 23 organisms, 34 substrates, 106 inhibitors, 60 Km, 20 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
5-PHOSPHO-ALPHA-D-RIBOSE 1-DIPHOSPHATE	0.0156–4.12	28
QUINOLINIC ACID	0.0216–1.478	15
QUINOLINATE	0.0051–0.133	14
NICOTINIC ACID	0.01–0.151	2
PYRIDINE-2,3-DICARBOXYLATE	0.01	1

Catalyzed reactions (Rhea), 1 shown:

• nicotinate beta-D-ribonucleotide + CO2 + diphosphate = quinolinate + 5-phospho-alpha-D-ribose 1-diphosphate + 2 H(+) (RHEA:12733)

UniProt features (55 total): helix 12, mutagenesis site 11, strand 11, binding site 8, sequence conflict 6, turn 3, sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
2JBM	X-RAY DIFFRACTION	2
4KWW	X-RAY DIFFRACTION	2.55
5AYZ	X-RAY DIFFRACTION	2.6
4KWV	X-RAY DIFFRACTION	2.8
5AYX	X-RAY DIFFRACTION	2.8
5AYY	X-RAY DIFFRACTION	3.09

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15274-F1	96.81	0.96

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 (8): 102; 138–139; 160–161; 171; 201; 222; 248–250; 270

Mutagenesis-validated functional residues (11):

Position	Phenotype
1–12	forms dimers instead of hexamers.
1–10	forms dimers instead of hexamers.
1–9	forms dimers instead of hexamers.
1–8	forms dimers instead of hexamers.
1–4	no effect on hexamer formation.
102	reduced activity.
138	loss of activity.
139	loss of activity.
161	reduced activity.
161	loss of activity.
171	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-196807	Nicotinate metabolism
R-HSA-1430728	Metabolism
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors
R-HSA-196854	Metabolism of vitamins and cofactors

MSigDB gene sets: 213 (showing top): VALK_AML_WITH_FLT3_ITD, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GNF2_HPN, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, KOINUMA_COLON_CANCER_MSI_DN, GOBP_NADPLUS_METABOLIC_PROCESS

GO Biological Process (6): NAD+ biosynthetic process (GO:0009435), quinolinate catabolic process (GO:0034213), ‘de novo’ NAD+ biosynthetic process from L-tryptophan (GO:0034354), pyridine nucleotide biosynthetic process (GO:0019363), NAD+ metabolic process (GO:0019674), quinolinate metabolic process (GO:0046874)

GO Molecular Function (6): nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514), identical protein binding (GO:0042802), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), pentosyltransferase activity (GO:0016763)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062), catalytic complex (GO:1902494)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of water-soluble vitamins and cofactors	1
Metabolism of vitamins and cofactors	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
purine nucleotide biosynthetic process	1
nicotinamide nucleotide biosynthetic process	1
NAD+ metabolic process	1
dicarboxylic acid catabolic process	1
quinolinate metabolic process	1
pyridine-containing compound catabolic process	1
aromatic amino acid metabolic process	1
NAD+ biosynthetic process	1
indole-containing compound metabolic process	1
L-amino acid metabolic process	1
proteinogenic amino acid metabolic process	1
nucleotide biosynthetic process	1
pyridine-containing compound biosynthetic process	1
purine nucleotide metabolic process	1
nicotinamide nucleotide metabolic process	1
dicarboxylic acid metabolic process	1
pyridine-containing compound metabolic process	1
pentosyltransferase activity	1
protein binding	1
binding	1
catalytic activity	1
transferase activity	1
glycosyltransferase activity	1
intracellular anatomical structure	1
cytoplasm	1
extracellular vesicle	1
protein-containing complex	1

Protein interactions and networks

STRING

1336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
QPRT	HAAO	P46952	865
QPRT	KYNU	Q16719	847
QPRT	NAPRT	Q6XQN6	844
QPRT	ACMSD	Q8TDX5	840
QPRT	KMO	O15229	814
QPRT	NMNAT1	Q9HAN9	743
QPRT	TDO2	P48775	737
QPRT	NMRK1	Q9NWW6	722
QPRT	C16orf54	Q6UWD8	715
QPRT	IDO1	P14902	712
QPRT	A0A2R8YFG2	A0A2R8YFG2	710
QPRT	AFMID	Q63HM1	707
QPRT	KCTD13	Q8WZ19	704
QPRT	IDO2	Q6ZQW0	698
QPRT	AADAT	Q8N5Z0	691

IntAct

42 interactions, top by confidence:

A	B	Type	Score
CNOT3	CNOT1	psi-mi:“MI:0914”(association)	0.740
QPRT	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
KRTAP1-1	QPRT	psi-mi:“MI:0915”(physical association)	0.560
QPRT	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	QPRT	psi-mi:“MI:0915”(physical association)	0.560
QPRT	QPRT	psi-mi:“MI:0915”(physical association)	0.560
NLGN3	QPRT	psi-mi:“MI:0915”(physical association)	0.540
QPRT	NLGN3	psi-mi:“MI:0915”(physical association)	0.540
QPRT	NLGN3	psi-mi:“MI:0403”(colocalization)	0.540
NPL	QPRT	psi-mi:“MI:0915”(physical association)	0.400
QPRT	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.370
QPRT	GIT2	psi-mi:“MI:0915”(physical association)	0.370
QPRT	KRTAP4-12	psi-mi:“MI:0915”(physical association)	0.370
QPRT	SUFU	psi-mi:“MI:0915”(physical association)	0.370
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
GBX1	DNAJC6	psi-mi:“MI:0914”(association)	0.350
TNS4	PPP3CB	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
FECH	POTEF	psi-mi:“MI:0914”(association)	0.350
GAB2	UBA6	psi-mi:“MI:0914”(association)	0.350
ITM2C	UBA6	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
PCDHGA9	UBA6	psi-mi:“MI:0914”(association)	0.350
SNRNP27	BPNT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (182): QPRT (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), PRRC2C (Affinity Capture-MS), SMARCD2 (Affinity Capture-MS), SEH1L (Affinity Capture-MS), RAVER2 (Affinity Capture-MS), SRCAP (Affinity Capture-MS), BCOR (Affinity Capture-MS), MIA3 (Affinity Capture-MS), SF3A1 (Affinity Capture-MS), PER1 (Affinity Capture-MS), TRIM24 (Affinity Capture-MS)

ESM2 similar proteins: A0A6N3IN21, A5GFZ6, A7MBC0, D3ZDK7, E1BNQ4, E2QUI9, I3LK75, P11172, P13439, P19971, P31754, P38918, P50336, P51175, P56602, P84850, Q0VGK3, Q15274, Q1JPD3, Q2KJF7, Q3T063, Q5BJY6, Q5E9M9, Q5FVR2, Q5I0M2, Q5PQQ1, Q5R514, Q5R824, Q60HD5, Q6PCB7, Q6SKR2, Q6XQN1, Q8CC86, Q8CHP8, Q8CIM3, Q8IVS8, Q8IW45, Q8IXI1, Q8JZV7, Q8N465

Diamond homologs: A0A1S4CL59, A0A1S4D475, A0A1S4DF18, A0A1S4DFD3, A7SG73, B2RFS9, B2RFT0, I3LK75, O27860, O28439, P30011, P30012, P30819, P39666, P43619, P46714, P74301, P77938, P9WJJ6, P9WJJ7, Q0IZS0, Q15274, Q3T063, Q57916, Q5I0M2, Q75JX0, Q91X91, Q9CLU4, Q9ZU32, O25909, Q9ZJN2, Q08384, P58496, P59245, P94777, Q57278

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1691 predictions. Top by Δscore:

Variant	Effect	Δscore
16:29679118:A:AG	acceptor_gain	1.0000
16:29679119:G:GG	acceptor_gain	1.0000
16:29679208:AAGGT:A	donor_loss	1.0000
16:29679209:AGGTA:A	donor_loss	1.0000
16:29679210:GGTAA:G	donor_loss	1.0000
16:29679211:G:GA	donor_loss	1.0000
16:29679212:T:A	donor_loss	1.0000
16:29694659:CCCA:C	acceptor_loss	1.0000
16:29694660:CCA:C	acceptor_loss	1.0000
16:29694660:CCAG:C	acceptor_loss	1.0000
16:29694661:CAG:C	acceptor_loss	1.0000
16:29694662:A:AG	acceptor_gain	1.0000
16:29694662:A:C	acceptor_loss	1.0000
16:29694662:AGGC:A	acceptor_loss	1.0000
16:29694663:G:GG	acceptor_gain	1.0000
16:29694663:GGC:G	acceptor_gain	1.0000
16:29694663:GGCC:G	acceptor_gain	1.0000
16:29694663:GGCCT:G	acceptor_gain	1.0000
16:29695094:G:GT	donor_gain	1.0000
16:29695377:C:G	donor_gain	1.0000
16:29697124:AGAG:A	donor_loss	1.0000
16:29697125:GAG:G	donor_gain	1.0000
16:29697128:GT:G	donor_loss	1.0000
16:29664613:GC:G	donor_gain	0.9900
16:29679119:GT:G	acceptor_gain	0.9900
16:29679119:GTC:G	acceptor_gain	0.9900
16:29679119:GTCC:G	acceptor_gain	0.9900
16:29679119:GTCCC:G	acceptor_gain	0.9900
16:29679207:GAAG:G	donor_gain	0.9900
16:29679209:AGG:A	donor_loss	0.9900

AlphaMissense

1892 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:29695063:G:T	R138M	0.994
16:29695163:G:C	K171N	0.994
16:29695163:G:T	K171N	0.994
16:29694913:C:A	A88D	0.992
16:29694961:C:A	A104D	0.991
16:29694984:A:C	S112R	0.991
16:29694986:T:A	S112R	0.991
16:29694986:T:G	S112R	0.991
16:29695093:A:T	E148V	0.989
16:29697259:A:C	S248R	0.989
16:29697261:T:A	S248R	0.989
16:29697261:T:G	S248R	0.989
16:29694838:T:A	I63K	0.988
16:29694912:G:C	A88P	0.988
16:29694726:G:C	D26H	0.987
16:29694952:A:T	E101V	0.987
16:29695067:G:C	K139N	0.987
16:29695067:G:T	K139N	0.987
16:29697102:T:A	V219D	0.987
16:29697111:A:T	D222V	0.986
16:29694817:G:A	G56E	0.985
16:29694949:G:A	G100E	0.984
16:29695161:A:G	K171E	0.984
16:29695162:A:T	K171M	0.984
16:29695101:G:T	G151W	0.983
16:29695102:G:A	G151E	0.983
16:29697359:T:C	F281S	0.983
16:29694714:T:A	W22R	0.981
16:29694714:T:C	W22R	0.981
16:29694948:G:T	G100W	0.981

dbSNP variants (sampled 300 via entrez): RS1000048681 (16:29690612 T>A,C), RS1000087710 (16:29679003 C>T), RS1000177587 (16:29693038 G>A), RS1000260351 (16:29684839 T>C), RS1000460906 (16:29697014 C>T), RS1000572086 (16:29696742 C>G), RS1000637999 (16:29681178 A>T), RS1000714358 (16:29693485 C>A,T), RS1000850657 (16:29690302 G>C), RS1001502543 (16:29680302 GT>G), RS1001504957 (16:29687127 C>T), RS1001812125 (16:29693770 A>G), RS1001843378 (16:29691066 AAG>A), RS1001896004 (16:29684898 G>T), RS1002020583 (16:29681309 A>C,G)

Disease associations

OMIM: gene MIM:606248 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression	3
Valproic Acid	affects expression, decreases expression	3
methylmercuric chloride	decreases expression	2
Resveratrol	decreases expression, increases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Nickel	decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
deoxynivalenol	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
puag-haad	decreases expression	1
avobenzone	increases expression	1
Am 580	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
entinostat	increases expression	1
monomethylarsonous acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dimethylarsinous acid	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
ormosil	affects binding, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Rosiglitazone	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_TH90	HAP1 QPRT (-) 1	Cancer cell line	Male
CVCL_TH91	HAP1 QPRT (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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