ASPG

Summary

ASPG (asparaginase, HGNC:20123) is a protein-coding gene on chromosome 14q32.33, encoding 60 kDa lysophospholipase (Q86U10). Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities.

Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups; asparaginase activity; and lysophospholipase activity. Predicted to be involved in asparagine metabolic process and phospholipid metabolic process. Predicted to be located in cytosol.

Source: NCBI Gene 374569 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 113 total
• MANE Select transcript: NM_001080464

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20123
Approved symbol	ASPG
Name	asparaginase
Location	14q32.33
Locus type	gene with protein product
Status	Approved
Aliases	LysoLP, hASNase1
Ensembl gene	ENSG00000166183
Ensembl biotype	protein_coding
OMIM	618472
Entrez	374569

Gene structure

Transcript identifiers

Ensembl transcripts: 59 — 54 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000546892, ENST00000548372, ENST00000549809, ENST00000550583, ENST00000551170, ENST00000551177, ENST00000551871, ENST00000552126, ENST00000556267, ENST00000868812, ENST00000868813, ENST00000868814, ENST00000868815, ENST00000868816, ENST00000868817, ENST00000868818, ENST00000868819, ENST00000868820, ENST00000868821, ENST00000868822, ENST00000868823, ENST00000868824, ENST00000868825, ENST00000868826, ENST00000868827, ENST00000868828, ENST00000868829, ENST00000868830, ENST00000868831, ENST00000868832, ENST00000868833, ENST00000868834, ENST00000868835, ENST00000868836, ENST00000868837, ENST00000868838, ENST00000868839, ENST00000868840, ENST00000868841, ENST00000868842, ENST00000868843, ENST00000868844, ENST00000868845, ENST00000868846, ENST00000868847, ENST00000868848, ENST00000941505, ENST00000941506, ENST00000941507, ENST00000941508, ENST00000941509, ENST00000941510, ENST00000941511, ENST00000941512, ENST00000941513, ENST00000941514, ENST00000941515, ENST00000941516, ENST00000941517

RefSeq mRNA: 2 — MANE Select: NM_001080464 NM_001080464, NM_001411060

CCDS: CCDS45170, CCDS91954

Canonical transcript exons

ENST00000551177 — 16 exons

Exon	Start	End
ENSE00001333542	104107182	104107345
ENSE00001549737	104109229	104109315
ENSE00001562727	104111502	104111601
ENSE00001672488	104092633	104092741
ENSE00001768524	104093491	104093602
ENSE00002415862	104112524	104115582
ENSE00002419492	104085700	104085852
ENSE00003534017	104111920	104112000
ENSE00003546375	104104304	104104486
ENSE00003572169	104098853	104098979
ENSE00003584763	104095531	104095656
ENSE00003600929	104097554	104097637
ENSE00003645535	104103563	104103675
ENSE00003653844	104104622	104104735
ENSE00003658102	104105328	104105450
ENSE00003665008	104106799	104106894

Expression profiles

Bgee: expression breadth ubiquitous, 151 present calls, max score 98.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5098 / max 187.6435, expressed in 79 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141788	0.4372	50
141790	0.0345	17
141789	0.0230	10
207384	0.0150	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.64	gold quality
lower esophagus mucosa	UBERON:0035834	97.99	gold quality
right atrium auricular region	UBERON:0006631	97.83	gold quality
cardiac atrium	UBERON:0002081	96.65	gold quality
esophagus mucosa	UBERON:0002469	93.55	gold quality
apex of heart	UBERON:0002098	90.31	gold quality
left ovary	UBERON:0002119	89.69	gold quality
liver	UBERON:0002107	89.65	gold quality
skin of leg	UBERON:0001511	88.07	gold quality
right ovary	UBERON:0002118	87.58	gold quality
skin of abdomen	UBERON:0001416	86.75	gold quality
heart	UBERON:0000948	84.81	gold quality
heart left ventricle	UBERON:0002084	83.23	gold quality
zone of skin	UBERON:0000014	83.22	gold quality
left uterine tube	UBERON:0001303	82.72	gold quality
cardiac ventricle	UBERON:0002082	82.26	gold quality
left lobe of thyroid gland	UBERON:0001120	81.90	gold quality
right lobe of thyroid gland	UBERON:0001119	81.88	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	81.32	gold quality
right coronary artery	UBERON:0001625	80.83	gold quality
ovary	UBERON:0000992	80.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.70	gold quality
thyroid gland	UBERON:0002046	78.97	gold quality
adult mammalian kidney	UBERON:0000082	78.45	gold quality
left coronary artery	UBERON:0001626	77.93	gold quality
biceps brachii	UBERON:0001507	77.76	gold quality
vagina	UBERON:0000996	77.43	gold quality
esophagus	UBERON:0001043	77.25	gold quality
coronary artery	UBERON:0001621	76.85	gold quality
right uterine tube	UBERON:0001302	76.42	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-38	yes	179.83
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting ASPG, 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-4533	100.00	69.48	2758
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-509-3-5P	97.21	67.74	1517
HSA-MIR-509-5P	97.21	67.90	1512

Literature-anchored findings (GeneRIF, showing 8)

• The 60kDa lysophospholipase downregulates basal and Sgk1-dependent ENaC activity. (PMID:21063096)
• In the cleaved state, Thr168 of L-asparaginase directly activates its hydroxyl group (distance of 2.9 A). (PMID:22861376)
• Human 60-kDa lysophospholipase contains an N-terminal L-asparaginase domain that is allosterically regulated by L-asparagine. (PMID:24657844)
• To determine the individual contribution of each of the three conserved active-site threonines (threonine triad Thr168, Thr186, Thr219) for the enzyme-activating autocleavage and asparaginase reactions, we prepared the T168S, T186V and T219A/V mutants. (PMID:24768817)
• Incidence of symptomatic L-asparaginase associated Cerebral Sinovenous Thrombosis during ALL treatment was 1.5% with high case fatality rate (28%). (PMID:29554021)
• Molecular dynamics simulations of human L-asparaginase1: Insights into structural determinants of enzymatic activity. (PMID:34461521)
• In vivo stabilization of a less toxic asparaginase variant leads to a durable antitumor response in acute leukemia. (PMID:35979719)
• L-asparaginase activity and anti-L-asparaginase antibody as biomarkers in estimating PEG-asp-related anaphylaxis risk in childhood acute lymphoblastic leukemia patients. (PMID:37169557)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	aspg	ENSDARG00000052942
mus_musculus	Aspg	ENSMUSG00000037686
rattus_norvegicus	Aspg	ENSRNOG00000012843
drosophila_melanogaster	CG6428	FBGN0029689
drosophila_melanogaster	CG8526	FBGN0037759
caenorhabditis_elegans		WBGENE00007756

Protein

Protein identifiers

60 kDa lysophospholipase — Q86U10 (reviewed: Q86U10)

Alternative names: Lysophospholipase-transacylase

All UniProt accessions (4): Q86U10, G3V1Y8, H0YHD3, H0YHG5

UniProt curated annotations — full annotation on UniProt →

Function. Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities. Can catalyze three types of transacylation reactions: (1) acyl transfer from 1-acyl-sn-glycero-3-phosphocholine (1-acyl-GPC) to the sn-1(3) positions of glycerol and 2-acylglycerol (sn-1 to -1(3) transfer), (2) acyl transfer from 1-acyl-GPC to the sn-2 positions of 1-acyl-GPC, 1-acyl-sn-glycero-3-phosphoethanolamine (1-acyl-GPE), and other lysophospholipids (sn-1 to -2 transfer) and (3) acyl transfer from 2-acyl-GPC to the sn-1 position of 2-acyl-GPC and 2-acyl-GPE (sn-2 to -1 transfer). Mediates the synthesis of 1-arachidonoyl species of phospholipids by transferring the arachidonoyl residue from 2-arachidonoyl lysophospholipid to the sn-1 position of 2-acyl lysophospholipid.

Subunit / interactions. Monomer.

Miscellaneous. May be due to a competing acceptor splice site.

Similarity. In the N-terminal section; belongs to the asparaginase 1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86U10-1	1	yes
Q86U10-3	3

RefSeq proteins (2): NP_001073933, NP_001397989 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR006033	AsnA_fam	Family
IPR006034	Asparaginase/glutaminase-like	Family
IPR027473	L-asparaginase_C	Homologous_superfamily
IPR027474	L-asparaginase_N	Domain
IPR027475	Asparaginase/glutaminase_AS2	Active_site
IPR036152	Asp/glu_Ase-like_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037152	L-asparaginase_N_sf	Homologous_superfamily
IPR040919	Asparaginase_C	Domain
IPR041725	L-asparaginase_I	Family

Pfam: PF00710, PF12796, PF17763

Catalyzed reactions (Rhea), 12 shown:

• a 1-acyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + a fatty acid + H(+) (RHEA:15177)
• a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = a 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+) (RHEA:17777)
• L-asparagine + H2O = L-aspartate + NH4(+) (RHEA:21016)
• 1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + hexadecanoate + H(+) (RHEA:40435)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + (9Z)-octadecenoate + H(+) (RHEA:40807)
• 2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:40827)
• 2 1-hexadecanoyl-sn-glycero-3-phosphocholine = 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + sn-glycerol 3-phosphocholine (RHEA:40879)
• 1-octadecanoyl-sn-glycero-3-phosphocholine + H2O = octadecanoate + sn-glycerol 3-phosphocholine + H(+) (RHEA:40887)
• 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + H2O = sn-glycero-3-phosphoethanolamine + hexadecanoate + H(+) (RHEA:40891)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:40895)
• 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + 1-hexadecanoyl-sn-glycero-3-phosphocholine = 1,2-dihexadecanoyl-sn-glycero-3-phosphoethanolamine + sn-glycerol 3-phosphocholine (RHEA:40899)
• 2-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + hexadecanoate + H(+) (RHEA:40903)

UniProt features (15 total): repeat 5, sequence variant 3, binding site 2, chain 1, domain 1, splice variant 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86U10-F1	90.05	0.77

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 (1): 19 (acyl-ester intermediate)

Ligand- & substrate-binding residues (2): 116–117; 84–86

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8963693	Aspartate and asparagine metabolism
R-HSA-1430728	Metabolism
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 56 (showing top): GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, chr14q32, GOMF_LYSOPHOSPHOLIPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, GOMF_LIPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_LINEAR_AMIDES, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS, GOMF_PHOSPHOLIPASE_ACTIVITY, MIKKELSEN_IPS_LCP_WITH_H3K4ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3

GO Biological Process (5): obsolete aspartate family amino acid metabolic process (GO:0009066), lipid catabolic process (GO:0016042), L-amino acid metabolic process (GO:0170033), amino acid metabolic process (GO:0006520), lipid metabolic process (GO:0006629)

GO Molecular Function (8): 1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847), asparaginase activity (GO:0004067), phosphatidylcholine lysophospholipase A1 activity (GO:0004622), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), hydrolase activity (GO:0016787)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	2
catalytic activity	2
lipid metabolic process	1
catabolic process	1
amino acid metabolic process	1
carboxylic acid metabolic process	1
carboxylic ester hydrolase activity	1
amidase activity	1
lysophospholipase A1 activity	1
acyltransferase activity	1
binding	1
transferase activity	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1442 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASPG	ASRGL1	Q7L266	935
ASPG	TASP1	Q9H6P5	875
ASPG	ASNS	P08184	794
ASPG	CSF3	P09919	639
ASPG	KMT2A	Q03164	612
ASPG	ABL1	P00519	581
ASPG	SERPINC1	P01008	571
ASPG	CHRNE	Q04844	548
ASPG	ALB	P02768	532
ASPG	CD7	P09564	529
ASPG	ETV6	P41212	511
ASPG	MME	P08473	511
ASPG	GP1BA	P07359	493
ASPG	RUNX1	Q01196	484
ASPG	GLUL	P15104	482

IntAct

36 interactions, top by confidence:

A	B	Type	Score
ASPG	VPS25	psi-mi:“MI:0915”(physical association)	0.560
TMEM115	ASPG	psi-mi:“MI:0915”(physical association)	0.560
USP2	ASPG	psi-mi:“MI:0915”(physical association)	0.560
RTP5	ASPG	psi-mi:“MI:0915”(physical association)	0.560
CEACAM6	ASPG	psi-mi:“MI:0915”(physical association)	0.560
ASPG	CIMIP1	psi-mi:“MI:0915”(physical association)	0.560
GSDMD	ASPG	psi-mi:“MI:0915”(physical association)	0.560
ASPG	MYOZ3	psi-mi:“MI:0915”(physical association)	0.560
ASPG	DMRT3	psi-mi:“MI:0915”(physical association)	0.560
ASPG	TEKT3	psi-mi:“MI:0915”(physical association)	0.560
ASPG	SHC3	psi-mi:“MI:0915”(physical association)	0.560
VPS25	ASPG	psi-mi:“MI:0915”(physical association)	0.000
TMEM115	ASPG	psi-mi:“MI:0915”(physical association)	0.000
USP2	ASPG	psi-mi:“MI:0915”(physical association)	0.000
GSDMD	ASPG	psi-mi:“MI:0915”(physical association)	0.000
RTP5	ASPG	psi-mi:“MI:0915”(physical association)	0.000
CEACAM6	ASPG	psi-mi:“MI:0915”(physical association)	0.000
CIMIP1	ASPG	psi-mi:“MI:0915”(physical association)	0.000
MYOZ3	ASPG	psi-mi:“MI:0915”(physical association)	0.000
DMRT3	ASPG	psi-mi:“MI:0915”(physical association)	0.000
TEKT3	ASPG	psi-mi:“MI:0915”(physical association)	0.000
SHC3	ASPG	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): ASPG (Two-hybrid), ASPG (Affinity Capture-Western), SGK1 (Affinity Capture-Western), SGK1 (Reconstituted Complex), ASPG (Affinity Capture-MS), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid), ASPG (Two-hybrid)

ESM2 similar proteins: A0A7N9VSG0, A0JNU3, D3ZBP4, D3ZX08, F1MH07, O43542, O55137, O55171, O88202, O88267, P15575, P16444, P22412, P31429, P41226, P43477, Q08DH8, Q0P5I5, Q14CH7, Q2KHY1, Q2V057, Q32Q92, Q3SZM7, Q3UQ84, Q5E9L5, Q5JTZ9, Q5M876, Q5RCH4, Q66KF6, Q68FW7, Q6P3H4, Q6PAY6, Q86U10, Q8K4F6, Q8K4V2, Q8R123, Q8TDZ2, Q8VCZ9, Q8VDG5, Q8VDP3

Diamond homologs: A0JNU3, A1RX40, A4YHH3, A5UK11, A6VGK5, B0R6H4, C3MPS1, C3MYR5, C3N5E7, C3NE01, C3NHQ2, C4KH13, O26802, O59132, O88202, P0A962, P0A963, P26900, P61400, Q46GJ6, Q571F8, Q5JI77, Q5JIW4, Q60331, Q653P0, Q86U10, Q8TZE8, Q8U0X0, Q97ZH5, Q9HP20, Q9M8S6, Q9U518, Q9UI32, Q9V0T9, Q9Y9T8, A4FWR5, A6UPR4, A9AA46, O29380, P00805

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ASPG	“down-regulates quantity”	“L-asparagine zwitterion”	“chemical modification”
ASPG	“up-regulates quantity”	L-aspartate(1-)	“chemical modification”
ASPG	“up-regulates quantity”	ammonia	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	94
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3507 predictions. Top by Δscore:

Variant	Effect	Δscore
14:104085850:GCG:G	donor_gain	1.0000
14:104085853:G:GG	donor_gain	1.0000
14:104085853:GTGA:G	donor_loss	1.0000
14:104085854:T:G	donor_loss	1.0000
14:104093575:G:GG	donor_gain	1.0000
14:104095529:A:AG	acceptor_gain	1.0000
14:104095530:G:GG	acceptor_gain	1.0000
14:104095530:GA:G	acceptor_gain	1.0000
14:104095653:CCAG:C	donor_loss	1.0000
14:104095655:AGG:A	donor_loss	1.0000
14:104095657:GT:G	donor_loss	1.0000
14:104095658:T:A	donor_loss	1.0000
14:104097622:G:GG	donor_gain	1.0000
14:104098980:G:GG	donor_gain	1.0000
14:104104454:G:GT	donor_gain	1.0000
14:104104487:G:T	donor_gain	1.0000
14:104104496:G:GT	donor_gain	1.0000
14:104104729:G:GT	donor_gain	1.0000
14:104104730:A:T	donor_gain	1.0000
14:104104733:G:GT	donor_gain	1.0000
14:104105325:CAG:C	acceptor_loss	1.0000
14:104105326:A:AG	acceptor_gain	1.0000
14:104105326:AGC:A	acceptor_loss	1.0000
14:104105326:AGCT:A	acceptor_gain	1.0000
14:104105327:G:GA	acceptor_gain	1.0000
14:104105327:GC:G	acceptor_gain	1.0000
14:104105327:GCT:G	acceptor_gain	1.0000
14:104105327:GCTG:G	acceptor_gain	1.0000
14:104105327:GCTGC:G	acceptor_gain	1.0000
14:104105446:GCCAG:G	donor_gain	1.0000

AlphaMissense

3656 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:104104352:T:C	F268L	0.973
14:104104354:C:A	F268L	0.973
14:104104354:C:G	F268L	0.973
14:104095555:T:C	F110L	0.970
14:104095557:T:A	F110L	0.970
14:104095557:T:G	F110L	0.970
14:104098928:T:C	F197L	0.968
14:104098930:C:A	F197L	0.968
14:104098930:C:G	F197L	0.968
14:104095609:T:C	F128L	0.967
14:104095611:C:A	F128L	0.967
14:104095611:C:G	F128L	0.967
14:104093576:T:A	W93R	0.965
14:104093576:T:C	W93R	0.965
14:104104341:T:A	V264D	0.949
14:104095588:T:C	F121L	0.946
14:104095590:T:A	F121L	0.946
14:104095590:T:G	F121L	0.946
14:104098865:T:C	F176L	0.944
14:104098867:C:A	F176L	0.944
14:104098867:C:G	F176L	0.944
14:104104684:G:C	K333N	0.942
14:104104684:G:T	K333N	0.942
14:104095577:A:T	D117V	0.940
14:104107317:A:C	S469R	0.934
14:104107319:C:A	S469R	0.934
14:104107319:C:G	S469R	0.934
14:104098919:T:C	F194L	0.932
14:104098921:C:A	F194L	0.932
14:104098921:C:G	F194L	0.932

dbSNP variants (sampled 300 via entrez): RS1000076238 (14:104095963 G>A), RS1000083959 (14:104083756 G>A), RS1000122555 (14:104087809 G>A), RS1000172047 (14:104113296 G>A), RS1000189389 (14:104084580 G>T), RS1000282521 (14:104108260 C>T), RS1000384699 (14:104094367 G>A), RS1000413910 (14:104094652 C>T), RS1000566911 (14:104109418 G>T), RS1000643006 (14:104087979 G>T), RS1000724654 (14:104086841 G>A,C,T), RS1000859871 (14:104105180 C>A,G,T), RS1000914822 (14:104114469 C>T), RS1000927592 (14:104100441 G>A), RS1000957302 (14:104100199 G>A)

Disease associations

OMIM: gene MIM:618472 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST005648_29	Serum metabolite concentrations in chronic kidney disease	1.000000e-11
GCST005951_9	Body mass index	4.000000e-09
GCST006803_15	Schizophrenia	3.000000e-14
GCST007382_38	Plasma free amino acid levels (adjusted for twenty other PFAAs)	5.000000e-06
GCST007382_7	Plasma free amino acid levels (adjusted for twenty other PFAAs)	3.000000e-107
GCST007383_18	Plasma free amino acid levels (adjusted for one other PFAA)	5.000000e-08
GCST007383_25	Plasma free amino acid levels (adjusted for one other PFAA)	5.000000e-06
GCST007383_27	Plasma free amino acid levels (adjusted for one other PFAA)	2.000000e-08
GCST007383_3	Plasma free amino acid levels (adjusted for one other PFAA)	2.000000e-14
GCST007383_36	Plasma free amino acid levels (adjusted for one other PFAA)	9.000000e-63
GCST007383_37	Plasma free amino acid levels (adjusted for one other PFAA)	3.000000e-62
GCST007383_38	Plasma free amino acid levels (adjusted for one other PFAA)	2.000000e-60
GCST007383_39	Plasma free amino acid levels (adjusted for one other PFAA)	2.000000e-57
GCST007383_40	Plasma free amino acid levels (adjusted for one other PFAA)	8.000000e-56
GCST007383_44	Plasma free amino acid levels (adjusted for one other PFAA)	2.000000e-06
GCST007383_48	Plasma free amino acid levels (adjusted for one other PFAA)	1.000000e-11
GCST007383_5	Plasma free amino acid levels (adjusted for one other PFAA)	9.000000e-24
GCST007383_61	Plasma free amino acid levels (adjusted for one other PFAA)	1.000000e-12
GCST007383_72	Plasma free amino acid levels (adjusted for one other PFAA)	1.000000e-11
GCST007383_73	Plasma free amino acid levels (adjusted for one other PFAA)	8.000000e-27
GCST007383_78	Plasma free amino acid levels (adjusted for one other PFAA)	2.000000e-08
GCST007383_79	Plasma free amino acid levels (adjusted for one other PFAA)	9.000000e-11
GCST007383_8	Plasma free amino acid levels (adjusted for one other PFAA)	1.000000e-12
GCST007386_1	Plasma free asparagine levels	1.000000e-74
GCST010002_161	Refractive error	1.000000e-20
GCST012020_350	Serum metabolite levels	5.000000e-69
GCST012020_351	Serum metabolite levels	3.000000e-15
GCST012020_352	Serum metabolite levels	9.000000e-30

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0005134	amino acid measurement
EFO:0009775	threonine measurement
EFO:0009766	asparagine measurement
EFO:0005001	phenylalanine measurement
EFO:0009765	alanine measurement
EFO:0009777	citrulline measurement
EFO:0009768	glutamine measurement
EFO:0009771	methionine measurement
EFO:0009769	histidine measurement
EFO:0009774	serine measurement
EFO:0008534	tryptophan measurement
EFO:0005058	tyrosine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — 3.1.1.- Carboxylic Ester Hydrolases

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression, increases expression, increases methylation	3
Benzo(a)pyrene	decreases expression, increases methylation	2
bisphenol A	decreases methylation	1
sodium arsenate	decreases expression, increases abundance	1
aflatoxin B2	increases methylation	1
perfluorooctane sulfonic acid	increases expression	1
obeticholic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Methapyrilene	decreases expression, increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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