ABHD3

Summary

ABHD3 (abhydrolase domain containing 3, phospholipase, HGNC:18718) is a protein-coding gene on chromosome 18q11.2, encoding Phospholipase ABHD3 (Q8WU67). Phospholipase that may play a role in phospholipids remodeling.

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined.

Source: NCBI Gene 171586 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 82 total — 16 pathogenic
• MANE Select transcript: NM_138340

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18718
Approved symbol	ABHD3
Name	abhydrolase domain containing 3, phospholipase
Location	18q11.2
Locus type	gene with protein product
Status	Approved
Aliases	LABH3
Ensembl gene	ENSG00000158201
Ensembl biotype	protein_coding
OMIM	612197
Entrez	171586

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000289119, ENST00000577564, ENST00000577891, ENST00000577928, ENST00000578270, ENST00000579875, ENST00000579982, ENST00000580477, ENST00000580981, ENST00000584464, ENST00000890734, ENST00000890735, ENST00000890736, ENST00000890737, ENST00000971266

RefSeq mRNA: 3 — MANE Select: NM_138340 NM_001308256, NM_001308257, NM_138340

CCDS: CCDS32802, CCDS77159, CCDS77160

Canonical transcript exons

ENST00000289119 — 9 exons

Exon	Start	End
ENSE00001037643	21664118	21664230
ENSE00001146254	21650901	21651763
ENSE00002686331	21704504	21704774
ENSE00003471551	21659170	21659343
ENSE00003526915	21657104	21657152
ENSE00003536808	21702316	21702498
ENSE00003568064	21683920	21683965
ENSE00003633687	21656861	21657026
ENSE00003641854	21703584	21703747

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5728 / max 185.6961, expressed in 1740 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171320	12.3537	1735
171318	0.1108	39
171319	0.1084	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	98.42	gold quality
colonic mucosa	UBERON:0000317	97.29	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.10	gold quality
rectum	UBERON:0001052	96.78	gold quality
mucosa of transverse colon	UBERON:0004991	96.29	gold quality
ventricular zone	UBERON:0003053	94.57	gold quality
monocyte	CL:0000576	94.46	gold quality
mononuclear cell	CL:0000842	94.42	gold quality
leukocyte	CL:0000738	94.20	gold quality
secondary oocyte	CL:0000655	93.02	gold quality
islet of Langerhans	UBERON:0000006	92.89	gold quality
duodenum	UBERON:0002114	92.87	gold quality
choroid plexus epithelium	UBERON:0003911	92.73	gold quality
transverse colon	UBERON:0001157	92.67	gold quality
lower esophagus mucosa	UBERON:0035834	92.54	gold quality
granulocyte	CL:0000094	92.13	gold quality
oocyte	CL:0000023	92.03	gold quality
ileal mucosa	UBERON:0000331	91.83	gold quality
blood	UBERON:0000178	91.72	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.18	gold quality
vermiform appendix	UBERON:0001154	90.99	gold quality
right lobe of liver	UBERON:0001114	90.87	gold quality
pigmented layer of retina	UBERON:0001782	90.53	gold quality
bronchial epithelial cell	CL:0002328	90.42	gold quality
small intestine	UBERON:0002108	90.24	gold quality
epithelium of nasopharynx	UBERON:0001951	90.19	gold quality
jejunum	UBERON:0002115	89.95	gold quality
intestine	UBERON:0000160	89.91	gold quality
large intestine	UBERON:0000059	89.82	gold quality
lymph node	UBERON:0000029	89.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	511.06
E-ANND-3	yes	6.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

140 targeting ABHD3, 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-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-302E	99.96	70.74	2669
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-3910	99.95	71.13	2227
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	abhd3	ENSDARG00000018809
mus_musculus	Abhd3	ENSMUSG00000002475
rattus_norvegicus	Abhd3	ENSRNOG00000029370
drosophila_melanogaster	Hydr1	FBGN0033382
caenorhabditis_elegans		WBGENE00013358
caenorhabditis_elegans		WBGENE00016644

Paralogs (3): ABHD2 (ENSG00000140526), ABHD1 (ENSG00000143994), ABHD15 (ENSG00000168792)

Protein

Protein identifiers

Phospholipase ABHD3 — Q8WU67 (reviewed: Q8WU67)

Alternative names: Abhydrolase domain-containing protein 3

All UniProt accessions (5): Q8WU67, J3KSP1, J3KTE1, J3QQR0, J3QR14

UniProt curated annotations — full annotation on UniProt →

Function. Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain-containing and oxidatively truncated phospholipids.

Subcellular location. Membrane.

Similarity. Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WU67-1	1	yes
Q8WU67-2	2

RefSeq proteins (3): NP_001295185, NP_001295186, NP_612213* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR000952	AB_hydrolase_4_CS	Conserved_site
IPR012020	ABHD4	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR050960	AB_hydrolase_4_sf	Family

Pfam: PF00561

Catalyzed reactions (Rhea), 12 shown:

• a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:15801)
• a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:18689)
• 1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-hexadecyl-sn-glycero-3-phosphocholine + acetate + H(+) (RHEA:40479)
• 1-hexadecanoyl-2-(5-oxopentanoyl)-sn-glycero-3-phosphocholine + H2O = 5-oxopentanoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:40483)
• 1-hexadecanoyl-2-glutaroyl-sn-glycero-3-phosphocholine + H2O = glutarate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:41159)
• 1-hexadecanoyl-2-(9-oxononanoyl)-sn-glycero-3-phosphocholine + H2O = 9-oxononanoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:41179)
• 1-hexadecanoyl-2-nonadioyl-sn-glycero-3-phosphocholine + H2O = nonanedioate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:41388)
• 1-tetradecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + H2O = 2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + tetradecanoate + H(+) (RHEA:54388)
• 1-tetradecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + H2O = 1-tetradecanoyl-sn-glycero-3-phosphocholine + (9Z,12Z)-octadecadienoate + H(+) (RHEA:54392)
• 1-tetradecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine + tetradecanoate + H(+) (RHEA:54396)
• 1-tetradecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphocholine + tetradecanoate + H(+) (RHEA:54400)
• 1,2-ditetradecanoyl-sn-glycero-3-phosphocholine + H2O = 2-tetradecanoyl-sn-glycero-3-phosphocholine + tetradecanoate + H(+) (RHEA:54404)

UniProt features (9 total): active site 3, splice variant 2, chain 1, transmembrane region 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WU67-F1	93.39	0.88

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 (3): 220 (charge relay system); 346 (charge relay system); 375 (charge relay system)

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1483191	Synthesis of PC
R-HSA-1430728	Metabolism
R-HSA-1483206	Glycerophospholipid biosynthesis
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 204 (showing top): GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, RORA1_01, GOBP_PHOSPHATIDYLCHOLINE_BIOSYNTHETIC_PROCESS, TGCACTT_MIR519C_MIR519B_MIR519A, TTTGTAG_MIR520D, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, TGACCTY_ERR1_Q2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (5): phosphatidylcholine biosynthetic process (GO:0006656), phosphatidylcholine metabolic process (GO:0046470), medium-chain fatty acid biosynthetic process (GO:0051792), medium-chain fatty acid catabolic process (GO:0051793), lipid metabolic process (GO:0006629)

GO Molecular Function (6): A2-type glycerophospholipase activity (GO:0004623), acetylesterase activity (GO:0008126), glycerophospholipid phospholipase A1 activity (GO:0008970), monoacylglycerol lipase activity (GO:0047372), hydrolase activity (GO:0016787), carboxylic ester hydrolase activity (GO:0052689)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
medium-chain fatty acid metabolic process	2
carboxylic ester hydrolase activity	2
phosphatidylcholine metabolic process	1
glycerophospholipid biosynthetic process	1
glycerophospholipid metabolic process	1
fatty acid biosynthetic process	1
fatty acid catabolic process	1
primary metabolic process	1
glycerophospholipase activity	1
short-chain carboxylesterase activity	1
A1-type glycerophospholipase activity	1
lipase activity	1
catalytic activity	1
hydrolase activity, acting on ester bonds	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD3	ABHD16A	O95870	647
ABHD3	ABHD4	Q8TB40	612
ABHD3	ABHD6	Q9BV23	601
ABHD3	ABHD12	Q8N2K0	579
ABHD3	ABHD11	Q8NFV4	562
ABHD3	ABHD10	Q9NUJ1	556
ABHD3	ABHD13	Q7L211	502
ABHD3	ABHD12B	Q7Z5M8	480
ABHD3	ABHD16B	Q9H3Z7	474
ABHD3	IAH1	Q2TAA2	457
ABHD3	CABLES1	Q8TDN4	433
ABHD3	THOC1	Q96FV9	425
ABHD3	ABHD14A	Q9BUJ0	403
ABHD3	LYPLA2	O95372	401
ABHD3	GREB1L	Q9C091	398

IntAct

28 interactions, top by confidence:

A	B	Type	Score
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
IL17RC	C2CD2L	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
	PTPRF	psi-mi:“MI:0914”(association)	0.350
KLK15	SPINT1	psi-mi:“MI:0914”(association)	0.350
KCNA2	TMEM129	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
IL17RC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
GPR182	METTL15	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
RXFP1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
OR6T1	PSMD11	psi-mi:“MI:0914”(association)	0.350
PTCHD3	ABCD4	psi-mi:“MI:0914”(association)	0.350
HTR3A	EXTL3	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
GP9	ESYT2	psi-mi:“MI:0914”(association)	0.350
BTNL2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
KLK15	APAF1	psi-mi:“MI:0914”(association)	0.350
GP5	MGST3	psi-mi:“MI:0914”(association)	0.350
SLC4A9	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC7A11	PSMD9	psi-mi:“MI:0914”(association)	0.350
rsmH	ABHD3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS), ABHD3 (Affinity Capture-MS)

ESM2 similar proteins: B5FYY5, C9WPN6, F1LTR1, F1QGW6, F6RQL9, O43504, P06730, P20461, P22234, P23258, P29338, P41091, P63073, P63074, P81795, Q0VC00, Q0VCD2, Q13126, Q13888, Q17QI2, Q2KHU8, Q2TBV5, Q2VIR3, Q3MHF7, Q3SZ68, Q4KLK9, Q5HZM6, Q5R797, Q5SP67, Q5ZHS1, Q5ZJQ7, Q5ZMS3, Q66X52, Q6ICL3, Q6NVL5, Q6P1K8, Q8WU67, Q91ZH7, Q969G6, Q99LG2

Diamond homologs: Q0VC00, Q18610, Q3T0A0, Q40863, Q5RK23, Q8WU67, Q91ZH7, Q96SE0, Q9QZC8, Q02891, Q54H38, P38295, P45524, Q03649

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	16
Likely pathogenic	0
Uncertain significance	52
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	Pathogenic
153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	Pathogenic
155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	Pathogenic
155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	Pathogenic
1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	Pathogenic
253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	Pathogenic
253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	Pathogenic
395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	Pathogenic
395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	Pathogenic
441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	Pathogenic
442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	Pathogenic
443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	Pathogenic
443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	Pathogenic
58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	Pathogenic
58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	Pathogenic
58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	Pathogenic

SpliceAI

1643 predictions. Top by Δscore:

Variant	Effect	Δscore
18:21656905:A:AC	donor_gain	1.0000
18:21656906:C:CC	donor_gain	1.0000
18:21656917:A:AC	donor_gain	1.0000
18:21656918:C:CC	donor_gain	1.0000
18:21656918:CTGA:C	donor_gain	1.0000
18:21656921:A:AC	donor_gain	1.0000
18:21656922:C:CC	donor_gain	1.0000
18:21657022:TTAGC:T	acceptor_gain	1.0000
18:21657023:TAGC:T	acceptor_gain	1.0000
18:21657024:AGCC:A	acceptor_loss	1.0000
18:21657028:T:G	acceptor_loss	1.0000
18:21659168:A:AC	donor_gain	1.0000
18:21659169:C:CC	donor_gain	1.0000
18:21659342:TT:T	acceptor_gain	1.0000
18:21659344:C:CC	acceptor_gain	1.0000
18:21702494:GTTCA:G	acceptor_gain	1.0000
18:21702495:TTCA:T	acceptor_gain	1.0000
18:21702496:TCA:T	acceptor_gain	1.0000
18:21702497:CA:C	acceptor_gain	1.0000
18:21702497:CAC:C	acceptor_gain	1.0000
18:21702498:ACTGA:A	acceptor_loss	1.0000
18:21702499:C:CC	acceptor_gain	1.0000
18:21702499:C:G	acceptor_loss	1.0000
18:21702500:T:G	acceptor_loss	1.0000
18:21703244:A:AC	donor_gain	1.0000
18:21703244:AT:A	donor_gain	1.0000
18:21703245:T:C	donor_gain	1.0000
18:21703580:TTAC:T	donor_loss	1.0000
18:21703582:A:AC	donor_gain	1.0000
18:21703582:ACTT:A	donor_gain	1.0000

AlphaMissense

2668 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:21651687:A:C	F378L	0.999
18:21651687:A:T	F378L	0.999
18:21651689:A:G	F378L	0.999
18:21683944:T:A	R177S	0.999
18:21683944:T:G	R177S	0.999
18:21651696:A:C	H375Q	0.998
18:21651696:A:T	H375Q	0.998
18:21659267:A:G	W249R	0.998
18:21659267:A:T	W249R	0.998
18:21683945:C:G	R177T	0.998
18:21702460:A:G	L122P	0.998
18:21703657:A:G	W85R	0.998
18:21703657:A:T	W85R	0.998
18:21651698:G:C	H375D	0.997
18:21651703:C:T	G373E	0.997
18:21656881:T:A	D346V	0.997
18:21656882:C:G	D346H	0.997
18:21664134:C:A	G218W	0.997
18:21664197:C:G	D197H	0.997
18:21702376:C:T	G150E	0.997
18:21651688:A:G	F378S	0.996
18:21651703:C:A	G373V	0.996
18:21656881:T:G	D346A	0.996
18:21656890:G:A	S343F	0.996
18:21656900:A:G	C340R	0.996
18:21659200:A:G	L271S	0.996
18:21683945:C:A	R177I	0.996
18:21683957:A:T	V173D	0.996
18:21702376:C:A	G150V	0.996
18:21702382:A:G	L148P	0.996

dbSNP variants (sampled 300 via entrez): RS1000084240 (18:21683242 C>T), RS1000108612 (18:21706088 T>C), RS1000118013 (18:21701657 G>A), RS1000304486 (18:21654553 A>T), RS1000359877 (18:21693753 TCC>T), RS1000363307 (18:21653283 C>T), RS1000392554 (18:21668236 GAAAAT>G), RS1000400988 (18:21701978 G>A), RS1000589682 (18:21680828 GTTGT>G), RS1000597952 (18:21678325 T>A,C), RS1000741069 (18:21666174 C>T), RS1000781531 (18:21666483 T>C), RS1000807847 (18:21672772 T>C), RS1000821197 (18:21673790 G>C), RS1000854731 (18:21691734 T>A,C)

Disease associations

OMIM: gene MIM:612197 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): trisomy 18 (MONDO:0018071)

Orphanet (1): Trisomy 18 syndrome (Orphanet:3380)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001414_25	Phospholipid levels (plasma)	1.000000e-08
GCST010703_44	Brain morphology (MOSTest)	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	9
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Calcitriol	increases expression, affects cotreatment	2
Cisplatin	affects cotreatment, increases expression	2
Phenobarbital	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
Particulate Matter	affects expression, increases abundance, decreases expression	2
triphenyl phosphate	affects expression	1
fenofibric acid	affects binding, increases expression	1
bisphenol A	decreases expression	1
trichostatin A	increases expression	1
beta-lapachone	increases expression	1
sulforaphane	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
ciglitazone	affects binding, increases expression	1
avobenzone	increases expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
GW 501516	increases expression, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00770458	Not specified	COMPLETED	Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
NCT00847990	Not specified	COMPLETED	Non-Invasive Screening for Fetal Aneuploidy
NCT00971334	Not specified	COMPLETED	Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
NCT01545674	Not specified	TERMINATED	Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
NCT01663350	Not specified	COMPLETED	Comparison of Aneuploidy Risk Evaluations
NCT01852708	Not specified	COMPLETED	Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
NCT01925742	Not specified	COMPLETED	Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood
NCT01966991	Not specified	COMPLETED	Prenatal Screening for Down Syndrome With DNAFirst
NCT02109770	Not specified	COMPLETED	Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
NCT02201862	Not specified	COMPLETED	Non-Invasive Chromosomal Evaluation of Trisomy Study
NCT02226315	Not specified	TERMINATED	Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies
NCT02278536	Not specified	COMPLETED	Multiple Gestation Study
NCT02278874	Not specified	COMPLETED	High Risk Multiple Gestation Study
NCT02317965	Not specified	UNKNOWN	Non-Invasive Screening for Fetal Aneuploidy
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
NCT02430584	Not specified	UNKNOWN	Whole Blood Specimen Collection From Pregnant Subjects
NCT02787486	Not specified	COMPLETED	Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
NCT03087357	Not specified	COMPLETED	VAlidation of a Lower Cost aneUploidy scrEen
NCT03559374	Not specified	UNKNOWN	Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)
NCT05004337	Not specified	COMPLETED	Verification of Risk Assignment for Whole Chromosome Using SNP-based NIPT in Vanishing Twin Pregnancies