GNPDA2

Summary

GNPDA2 (glucosamine-6-phosphate deaminase 2, HGNC:21526) is a protein-coding gene on chromosome 4p12, encoding Glucosamine-6-phosphate deaminase 2 (Q8TDQ7). Catalyzes the reversible conversion of alpha-D-glucosamine 6-phosphate (GlcN-6P) into beta-D-fructose 6-phosphate (Fru-6P) and ammonium ion, a regulatory reaction step in de novo uridine diphosphate-N-acetyl-alpha-D-glucosamine (UDP-GlcNAc) biosynthesis via hexosamine pathway.

The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Source: NCBI Gene 132789 — RefSeq curated summary.

At a glance

• GWAS associations: 75
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_138335

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21526
Approved symbol	GNPDA2
Name	glucosamine-6-phosphate deaminase 2
Location	4p12
Locus type	gene with protein product
Status	Approved
Aliases	SB52
Ensembl gene	ENSG00000163281
Ensembl biotype	protein_coding
OMIM	613222
Entrez	132789

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000295448, ENST00000507534, ENST00000507917, ENST00000509756, ENST00000511187, ENST00000608855, ENST00000609092, ENST00000862288, ENST00000960307

RefSeq mRNA: 3 — MANE Select: NM_138335 NM_001270880, NM_001270881, NM_138335

CCDS: CCDS3469, CCDS59472, CCDS59473

Canonical transcript exons

ENST00000295448 — 7 exons

Exon	Start	End
ENSE00001072991	44710953	44711137
ENSE00001072992	44717113	44717295
ENSE00001072995	44722084	44722242
ENSE00001072998	44701795	44703142
ENSE00001141883	44726474	44726556
ENSE00001632438	44707752	44707926
ENSE00003503217	44718309	44718410

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 99.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8379 / max 332.3969, expressed in 1732 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51988	11.5373	1721
51987	0.7909	505
51989	0.5098	282

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.42	gold quality
oocyte	CL:0000023	98.63	gold quality
calcaneal tendon	UBERON:0003701	93.88	gold quality
ventricular zone	UBERON:0003053	91.22	gold quality
islet of Langerhans	UBERON:0000006	90.06	gold quality
embryo	UBERON:0000922	89.50	gold quality
ganglionic eminence	UBERON:0004023	89.50	gold quality
adrenal tissue	UBERON:0018303	88.64	gold quality
smooth muscle tissue	UBERON:0001135	88.59	gold quality
cortical plate	UBERON:0005343	88.31	gold quality
cerebellar hemisphere	UBERON:0002245	88.29	gold quality
cerebellar cortex	UBERON:0002129	88.19	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.84	gold quality
tendon	UBERON:0000043	87.31	gold quality
Brodmann (1909) area 9	UBERON:0013540	86.96	gold quality
cerebellum	UBERON:0002037	86.61	gold quality
descending thoracic aorta	UBERON:0002345	86.06	gold quality
right coronary artery	UBERON:0001625	85.83	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.73	gold quality
lower esophagus	UBERON:0013473	85.71	gold quality
mucosa of stomach	UBERON:0001199	85.49	gold quality
tibialis anterior	UBERON:0001385	85.47	silver quality
stromal cell of endometrium	CL:0002255	85.39	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.32	gold quality
tibial artery	UBERON:0007610	85.31	gold quality
popliteal artery	UBERON:0002250	85.30	gold quality
anterior cingulate cortex	UBERON:0009835	85.24	gold quality
prefrontal cortex	UBERON:0000451	85.21	gold quality
left ovary	UBERON:0002119	85.14	gold quality
left coronary artery	UBERON:0001626	85.08	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-36552	yes	344.36
E-GEOD-100618	no	337.73
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

108 targeting GNPDA2, 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-4425	100.00	67.59	1049
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-15A-5P	99.90	72.80	2787

Literature-anchored findings (GeneRIF, showing 2)

• Data show that SNPs in SEC16B and TMEM18 were significantly associated with obesity, and the SNPs in GNPDA2, BDNF, FAIM2 and MC4R were marginally associated with obesity in Japanese. (PMID:19851340)
• GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration. (PMID:26887390)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gnpda2	ENSDARG00000024443
mus_musculus	Gnpda2	ENSMUSG00000029209
rattus_norvegicus	Gnpda2	ENSRNOG00000002177
drosophila_melanogaster	Oscillin	FBGN0031717
caenorhabditis_elegans		WBGENE00011399

Paralogs (1): GNPDA1 (ENSG00000113552)

Protein

Protein identifiers

Glucosamine-6-phosphate deaminase 2 — Q8TDQ7 (reviewed: Q8TDQ7)

Alternative names: Glucosamine-6-phosphate isomerase 2, Glucosamine-6-phosphate isomerase SB52

All UniProt accessions (3): Q8TDQ7, V9GYK3, V9GYW0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reversible conversion of alpha-D-glucosamine 6-phosphate (GlcN-6P) into beta-D-fructose 6-phosphate (Fru-6P) and ammonium ion, a regulatory reaction step in de novo uridine diphosphate-N-acetyl-alpha-D-glucosamine (UDP-GlcNAc) biosynthesis via hexosamine pathway. Deamination is coupled to aldo-keto isomerization mediating the metabolic flux from UDP-GlcNAc toward Fru-6P. At high ammonium level can drive amination and isomerization of Fru-6P toward hexosamines and UDP-GlcNAc synthesis. Has a role in fine tuning the metabolic fluctuations of cytosolic UDP-GlcNAc and their effects on hyaluronan synthesis that occur during tissue remodeling.

Subunit / interactions. Homohexamer.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitous, with highest expression detected in testis, ovary, placenta, and heart.

Activity regulation. Allosterically activated by N-acetylglucosamine-6-phosphate (GlcNAc6P).

Pathway. Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.

Similarity. Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8TDQ7-1	1	yes
Q8TDQ7-2	2
Q8TDQ7-3	3
Q8TDQ7-4	4
Q8TDQ7-5	5

RefSeq proteins (3): NP_001257809, NP_001257810, NP_612208* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004547	Glucosamine6P_isomerase	Family
IPR006148	Glc/Gal-6P_isomerase	Domain
IPR018321	Glucosamine6P_isomerase_CS	Conserved_site
IPR037171	NagB/RpiA_transferase-like	Homologous_superfamily

Pfam: PF01182

Enzyme classification (BRENDA):

• EC 3.5.99.6 — glucosamine-6-phosphate deaminase (BRENDA: 26 organisms, 33 substrates, 29 inhibitors, 103 Km, 48 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
D-GLUCOSAMINE 6-PHOSPHATE	0.041–17	51
ALPHA-D-GLUCOSAMINE 6-PHOSPHATE	0.24–45.2	15
D-FRUCTOSE 6-PHOSPHATE	1.1–36	14
NH4+	3.7–300	10
NH3	14–41.6	3
FRUCTOSE 6-PHOSPHATE	1.7	1
GLUCOSAMINE 6-PHOSPHATE	5	1

Catalyzed reactions (Rhea), 1 shown:

• alpha-D-glucosamine 6-phosphate + H2O = beta-D-fructose 6-phosphate + NH4(+) (RHEA:12172)

UniProt features (13 total): splice variant 4, active site 4, chain 1, coiled-coil region 1, sequence variant 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TDQ7-F1	97.48	0.98

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 (4): 72 (proton acceptor; for enolization step); 141 (for ring-opening step); 143 (proton acceptor; for ring-opening step); 148 (for ring-opening step)

Post-translational modifications (1): 161

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-70171	Glycolysis

MSigDB gene sets: 144 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_AMINO_SUGAR_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, chr4p12, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, ACATTCC_MIR1_MIR206

GO Biological Process (6): carbohydrate metabolic process (GO:0005975), D-glucosamine catabolic process (GO:0006043), N-acetylglucosamine catabolic process (GO:0006046), UDP-N-acetylglucosamine biosynthetic process (GO:0006048), N-acetylneuraminate catabolic process (GO:0019262), N-acetylglucosamine metabolic process (GO:0006044)

GO Molecular Function (5): glucosamine-6-phosphate deaminase activity (GO:0004342), isomerase activity (GO:0016853), identical protein binding (GO:0042802), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glucose metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glucosamine-containing compound catabolic process	2
catalytic activity	2
cellular anatomical structure	2
primary metabolic process	1
D-glucosamine metabolic process	1
N-acetylglucosamine metabolic 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
amino sugar metabolic process	1
deaminase activity	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1514 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GNPDA2	TMEM18	Q96B42	956
GNPDA2	KCTD15	Q96SI1	955
GNPDA2	NEGR1	Q7Z3B1	931
GNPDA2	MTCH2	Q9Y6C9	913
GNPDA2	SH2B1	Q9NRF2	903
GNPDA2	FTO	Q9C0B1	880
GNPDA2	MC4R	P32245	874
GNPDA2	SEC16B	Q96JE7	872
GNPDA2	H3BQ15	H3BQ15	788
GNPDA2	AMDHD2	Q9Y303	788
GNPDA2	FAIM2	Q9BWQ8	770
GNPDA2	PCSK1	P29120	673
GNPDA2	V9GXZ4	V9GXZ4	666
GNPDA2	ETV5	P41161	663
GNPDA2	TFAP2B	Q92481	663

IntAct

30 interactions, top by confidence:

A	B	Type	Score
AMDHD2	GNPDA2	psi-mi:“MI:0915”(physical association)	0.800
GNPDA2	AMDHD2	psi-mi:“MI:0915”(physical association)	0.800
GNPDA2	TRIM27	psi-mi:“MI:0915”(physical association)	0.670
TRIM27	GNPDA2	psi-mi:“MI:0915”(physical association)	0.670
MARCHF5	MFN2	psi-mi:“MI:0914”(association)	0.670
GNPDA2	GNPDA1	psi-mi:“MI:0914”(association)	0.640
HSCB	GNPDA2	psi-mi:“MI:0915”(physical association)	0.370
GNPDA1	SEC31A	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
IGHD	POTEF	psi-mi:“MI:0914”(association)	0.350
GNPDA2	MYH11	psi-mi:“MI:0914”(association)	0.350
UBE2L6	UBA6	psi-mi:“MI:0914”(association)	0.350
SPRY2	NDUFA2	psi-mi:“MI:0914”(association)	0.350
CABCOCO1	NARS1	psi-mi:“MI:0914”(association)	0.350
LRTM1	PTPRF	psi-mi:“MI:0914”(association)	0.350
LTBR	PTPRF	psi-mi:“MI:0914”(association)	0.350
PRR11	ARHGAP1	psi-mi:“MI:0914”(association)	0.350
IFT74	ZC3HAV1	psi-mi:“MI:0914”(association)	0.350
SET	CBX6	psi-mi:“MI:0914”(association)	0.350
IGHD	OBSL1	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): GNPDA2 (Two-hybrid), GNPDA2 (Two-hybrid), GNPDA2 (Affinity Capture-MS), ADI1 (Co-fractionation), C11orf54 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Co-fractionation), GNPDA2 (Two-hybrid)

ESM2 similar proteins: A0A0K9RL25, A0A0U1WZ18, A0A1S4A695, A4FV08, A4IHW6, O15305, O35621, O80840, O88958, O97555, O97556, P21856, P31150, P38024, P46926, P50395, P50396, P50397, P50398, P50399, P60028, Q1W374, Q1W375, Q1W376, Q1W377, Q259G4, Q3SZJ9, Q42521, Q4R5Y2, Q5E982, Q5R8T8, Q5RCE1, Q5ZID6, Q5ZJL4, Q60HD6, Q61598, Q64422, Q6IA69, Q6PA43, Q6Q7J2

Diamond homologs: A0JY49, A0QU88, A3QB39, A4QH44, A4W844, A5I5R9, A6L7Q8, A6LHV2, A6TVP5, A6VVU9, A7FX73, A7GH51, A7MQT6, A7Z975, A7ZJ60, A8AJE0, A8FHS6, A8FRI2, A8MIX7, A9KIR8, A9MKA9, A9MUG8, B0K0J7, B0K934, B0TTP5, B1HUU8, B1IKY4, B1KFS0, B1KZ07, B1VI88, B2RJ01, B2V163, B2VBN5, B3DQQ9, B3PBV0, B4SYN7, B4TB82, B4TPZ8, B5BCC5, B5EZC1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2830 predictions. Top by Δscore:

Variant	Effect	Δscore
4:44682328:TTTCA:T	acceptor_loss	1.0000
4:44682329:TTCA:T	acceptor_loss	1.0000
4:44682330:TCAGG:T	acceptor_loss	1.0000
4:44682331:CA:C	acceptor_loss	1.0000
4:44682332:A:AG	acceptor_gain	1.0000
4:44682332:AG:A	acceptor_gain	1.0000
4:44682332:AGG:A	acceptor_gain	1.0000
4:44682332:AGGGA:A	acceptor_loss	1.0000
4:44682333:G:GG	acceptor_gain	1.0000
4:44682333:GG:G	acceptor_gain	1.0000
4:44682333:GGG:G	acceptor_gain	1.0000
4:44682333:GGGA:G	acceptor_gain	1.0000
4:44682409:AAGGT:A	donor_loss	1.0000
4:44682410:AGGTA:A	donor_loss	1.0000
4:44682411:GG:G	donor_loss	1.0000
4:44682412:G:GA	donor_loss	1.0000
4:44682413:T:G	donor_loss	1.0000
4:44683231:A:AG	acceptor_gain	1.0000
4:44683233:A:AG	acceptor_gain	1.0000
4:44683234:G:GG	acceptor_gain	1.0000
4:44683234:GAT:G	acceptor_gain	1.0000
4:44683234:GATA:G	acceptor_gain	1.0000
4:44683315:TAAG:T	donor_loss	1.0000
4:44683316:AAGG:A	donor_loss	1.0000
4:44683317:AGGTA:A	donor_loss	1.0000
4:44683318:GGT:G	donor_loss	1.0000
4:44683319:G:A	donor_loss	1.0000
4:44683320:T:A	donor_loss	1.0000
4:44685946:T:G	acceptor_gain	1.0000
4:44686024:G:GG	donor_gain	1.0000

AlphaMissense

1843 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:44707804:G:C	C239W	0.999
4:44711106:A:C	N147K	0.999
4:44711106:A:T	N147K	0.999
4:44711109:G:C	F146L	0.999
4:44711109:G:T	F146L	0.999
4:44711111:A:G	F146L	0.999
4:44711122:C:T	G142D	0.999
4:44707793:G:T	A243D	0.998
4:44707805:C:T	C239Y	0.998
4:44707806:A:G	C239R	0.998
4:44707841:G:A	S227F	0.998
4:44707889:G:T	A211D	0.998
4:44707897:C:A	K208N	0.998
4:44707897:C:G	K208N	0.998
4:44707908:C:A	G205W	0.998
4:44710987:G:A	T187I	0.998
4:44711025:A:C	F174L	0.998
4:44711025:A:T	F174L	0.998
4:44711027:A:G	F174L	0.998
4:44711113:G:T	A145D	0.998
4:44711118:A:C	H143Q	0.998
4:44711118:A:T	H143Q	0.998
4:44711120:G:C	H143D	0.998
4:44711122:C:A	G142V	0.998
4:44711123:C:G	G142R	0.998
4:44717115:C:T	G136E	0.998
4:44717124:A:G	L133P	0.998
4:44718315:A:G	Y74H	0.998
4:44718319:A:C	D72E	0.998
4:44718319:A:T	D72E	0.998

dbSNP variants (sampled 300 via entrez): RS1000043502 (4:44714501 G>A), RS1000072246 (4:44723156 A>G), RS1000134023 (4:44721490 C>T), RS1000157310 (4:44701652 C>T), RS1000237136 (4:44708615 A>G), RS1000351206 (4:44708642 C>G,T), RS1000435480 (4:44701306 T>C), RS1000490653 (4:44703193 C>A,G), RS1000538203 (4:44719880 A>G), RS1000635799 (4:44725865 C>CTGAA), RS1000721282 (4:44709951 T>G), RS1000784167 (4:44708351 A>T), RS1000930011 (4:44720186 C>T), RS10009805 (4:44719910 C>T), RS10010606 (4:44702259 G>A)

Disease associations

OMIM: gene MIM:613222 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

75 associations (top):

Study	Trait	p-value
GCST000298_10	Body mass index	3.000000e-16
GCST000830_11	Body mass index	4.000000e-31
GCST001953_2	Obesity	3.000000e-18
GCST001953_20	Obesity	3.000000e-34
GCST001953_66	Obesity	4.000000e-28
GCST001955_5	Body mass index	2.000000e-13
GCST001967_3	Body mass index	2.000000e-10
GCST002021_6	Body mass index	6.000000e-09
GCST002461_14	Body mass index	4.000000e-09
GCST002541_9	Menarche (age at onset)	4.000000e-13
GCST002783_3	Body mass index	3.000000e-23
GCST002783_406	Body mass index	1.000000e-40
GCST002783_532	Body mass index	3.000000e-38
GCST002783_82	Body mass index	2.000000e-22
GCST003177_14	Childhood body mass index	2.000000e-23
GCST003670_15	Systolic blood pressure	9.000000e-07
GCST004065_37	Waist circumference	3.000000e-14
GCST004065_45	Waist circumference	6.000000e-20
GCST004065_53	Waist circumference	4.000000e-10
GCST004066_2	Hip circumference	3.000000e-09
GCST004066_29	Hip circumference	7.000000e-12
GCST004066_80	Hip circumference	9.000000e-17
GCST004495_127	BMI (adjusted for smoking behaviour)	4.000000e-13
GCST004495_128	BMI (adjusted for smoking behaviour)	2.000000e-23
GCST004495_129	BMI (adjusted for smoking behaviour)	2.000000e-13
GCST004497_100	Body mass index (joint analysis main effects and smoking interaction)	2.000000e-13
GCST004497_101	Body mass index (joint analysis main effects and smoking interaction)	3.000000e-11
GCST004497_99	Body mass index (joint analysis main effects and smoking interaction)	7.000000e-23
GCST004498_14	BMI in smokers	3.000000e-07
GCST004499_61	BMI in non-smokers	2.000000e-12

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004703	age at menarche
EFO:0006335	systolic blood pressure
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0006941	grip strength measurement
EFO:0007041	obese body mass index status
EFO:0008579	risk-taking behaviour
EFO:0021575	adipic acid measurement
EFO:0005937	longitudinal BMI measurement
EFO:0009819	comparative body size at age 10, self-reported

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
Particulate Matter	decreases reaction, increases expression, decreases expression, increases abundance	3
bisphenol A	increases expression, increases methylation	2
Arsenic	affects methylation, affects cotreatment, increases abundance, increases expression	2
Vehicle Emissions	increases abundance, decreases reaction, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Cyclosporine	increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
sodium arsenite	increases expression, affects cotreatment, increases abundance	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
bisphenol S	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases expression	1
Clorgyline	increases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Testosterone	increases expression	1
Dronabinol	decreases methylation	1
Tretinoin	decreases expression	1
Urethane	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XP25	HAP1 GNPDA2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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