ABHD2
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Also known as LABH2
Summary
ABHD2 (abhydrolase domain containing 2, acylglycerol lipase, HGNC:18717) is a protein-coding gene on chromosome 15q26.1, encoding Monoacylglycerol lipase ABHD2 (P08910). Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane.
This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein.
Source: NCBI Gene 11057 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 70 total — 9 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_152924
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18717 |
| Approved symbol | ABHD2 |
| Name | abhydrolase domain containing 2, acylglycerol lipase |
| Location | 15q26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LABH2 |
| Ensembl gene | ENSG00000140526 |
| Ensembl biotype | protein_coding |
| OMIM | 612196 |
| Entrez | 11057 |
Gene structure
Transcript identifiers
Ensembl transcripts: 33 — 28 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000352732, ENST00000562073, ENST00000562254, ENST00000564876, ENST00000565066, ENST00000565825, ENST00000565973, ENST00000568308, ENST00000569411, ENST00000569550, ENST00000864961, ENST00000864962, ENST00000864963, ENST00000864964, ENST00000864965, ENST00000864966, ENST00000864967, ENST00000864968, ENST00000864969, ENST00000864970, ENST00000864971, ENST00000864972, ENST00000864973, ENST00000864974, ENST00000864975, ENST00000951588, ENST00000951589, ENST00000951590, ENST00000951591, ENST00000951592, ENST00000951593, ENST00000951594, ENST00000951595
RefSeq mRNA: 15 — MANE Select: NM_152924
NM_001416412, NM_001416413, NM_001416414, NM_001416415, NM_001416416, NM_001416417, NM_001416418, NM_001416419, NM_001416420, NM_001416421, NM_001416422, NM_001416423, NM_001416424, NM_007011, NM_152924
CCDS: CCDS10348
Canonical transcript exons
ENST00000352732 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000943593 | 89116322 | 89116521 |
| ENSE00000943597 | 89185424 | 89185516 |
| ENSE00000943600 | 89193235 | 89193319 |
| ENSE00001226848 | 89113725 | 89113824 |
| ENSE00001226852 | 89088456 | 89088563 |
| ENSE00001416083 | 89195227 | 89202355 |
| ENSE00003474586 | 89175812 | 89175995 |
| ENSE00003540267 | 89191080 | 89191149 |
| ENSE00003617891 | 89155367 | 89155534 |
| ENSE00003619409 | 89188193 | 89188303 |
| ENSE00003788699 | 89151677 | 89151852 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 97.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.2819 / max 1340.0136, expressed in 1825 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 148321 | 52.8592 | 1824 |
| 148322 | 5.7667 | 962 |
| 148337 | 0.1992 | 94 |
| 148335 | 0.1506 | 86 |
| 148350 | 0.1501 | 39 |
| 148334 | 0.0979 | 66 |
| 148336 | 0.0432 | 23 |
| 148320 | 0.0118 | 3 |
| 148319 | 0.0031 | 3 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 97.01 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.29 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.83 | gold quality |
| gall bladder | UBERON:0002110 | 95.65 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 95.63 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.56 | gold quality |
| sperm | CL:0000019 | 95.41 | gold quality |
| tendon | UBERON:0000043 | 94.95 | gold quality |
| duodenum | UBERON:0002114 | 94.94 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.87 | gold quality |
| left testis | UBERON:0004533 | 94.55 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.47 | gold quality |
| pylorus | UBERON:0001166 | 94.16 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.15 | gold quality |
| blood | UBERON:0000178 | 94.10 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.03 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.02 | gold quality |
| liver | UBERON:0002107 | 93.97 | gold quality |
| right testis | UBERON:0004534 | 93.91 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.66 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.62 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.57 | gold quality |
| caput epididymis | UBERON:0004358 | 93.33 | gold quality |
| male germ cell | CL:0000015 | 93.26 | gold quality |
| cardia of stomach | UBERON:0001162 | 93.14 | gold quality |
| globus pallidus | UBERON:0001875 | 93.00 | gold quality |
| testis | UBERON:0000473 | 92.96 | gold quality |
| pancreas | UBERON:0001264 | 92.88 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 92.68 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.60 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 49.71 |
| E-GEOD-84465 | yes | 24.10 |
| E-MTAB-9689 | no | 145.57 |
| E-CURD-112 | no | 3.23 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 10)
- Our results showed that the ABHD2 was expressed in atherosclerotic lesions, and that the ABHD2 expression was significantly higher in the patients with UA than with SA. (PMID:17980156)
- Patients with selective immunoglobulin (Ig)A deficiency have a highly significant increase of homozygousity of HS1.2 allele *1, with an increase of 2.6-fold; the HS1.2 polymorphism influences Ig seric production, but not IgG switch. (PMID:20007591)
- ABHD2 gene single nucleotide polymorphisms, such as rs12442260 contribute to chronic obstructive pulmonary disease susceptibility in the Chinese Han population. (PMID:25880496)
- ABHD2 is highly expressed in spermatozoa, binds progesterone, and acts as a progesterone-dependent lipid hydrolase by depleting the endocannabinoid 2-arachidonoylglycerol (2AG) from plasma membrane. (PMID:26989199)
- A mutant ABHD2 developed with alanine in place of Ser(207). (PMID:27247428)
- Suppression of ABHD2 in OVCA420 cells increased phosphorylated p38 and ERK, platinum resistance, and side population cells (p<0.01, respectively). Conversely, overexpression of ABHD2 decreased resistance to anoikis (p<0.05) and the amount of phosphorylated p38 and ERK in OVCA420 and SKOV3 cells. (PMID:27323405)
- These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone. (PMID:28813576)
- Circular RNA circ_0079593 enhances malignant melanoma progression by the regulation of the miR-573/ABHD2 axis. (PMID:33648800)
- Membrane Cholesterol Inhibits Progesterone-Mediated Sperm Function through the Possible Involvement of ABHD2. (PMID:37298205)
- Abhd2, a Candidate Gene Regulating Airway Remodeling in COPD via TGF-beta. (PMID:38197032)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | abhd2a | ENSDARG00000025797 |
| danio_rerio | abhd2b | ENSDARG00000045804 |
| mus_musculus | Abhd2 | ENSMUSG00000039202 |
| rattus_norvegicus | Abhd2 | ENSRNOG00000017120 |
| drosophila_melanogaster | Hydr2 | FBGN0014906 |
Paralogs (3): ABHD1 (ENSG00000143994), ABHD3 (ENSG00000158201), ABHD15 (ENSG00000168792)
Protein
Protein identifiers
Monoacylglycerol lipase ABHD2 — P08910 (reviewed: P08910)
Alternative names: 2-arachidonoylglycerol hydrolase, Abhydrolase domain-containing protein 2, Acetylesterase, Lung alpha/beta hydrolase 2, Progesterone-sensitive lipase, Protein PHPS1-2
All UniProt accessions (5): A0A024RC89, P08910, H3BMT2, H3BN19, H3BUZ6
UniProt curated annotations — full annotation on UniProt →
Function. Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane. Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA). Also displays an ester hydrolase activity against acetyl ester, butanoate ester and hexadecanoate ester. Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation. May also play a role in smooth muscle cells migration.
Subcellular location. Cell projection. Cilium. Flagellum membrane. Cell membrane.
Tissue specificity. Present in sperm (at protein level).
Activity regulation. Acylglycerol lipase activity is activated upon binding to progesterone.
Similarity. Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
RefSeq proteins (15): NP_001403341, NP_001403342, NP_001403343, NP_001403344, NP_001403345, NP_001403346, NP_001403347, NP_001403348, NP_001403349, NP_001403350, NP_001403351, NP_001403352, NP_001403353, NP_008942, NP_690888* (*=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), 5 shown:
- a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+) (RHEA:12044)
- an acetyl ester + H2O = an aliphatic alcohol + acetate + H(+) (RHEA:12957)
- 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = glycerol + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:26132)
- a butanoate ester + H2O = an aliphatic alcohol + butanoate + H(+) (RHEA:47348)
- hexadecanoate ester + H2O = an aliphatic alcohol + hexadecanoate + H(+) (RHEA:47392)
UniProt features (12 total): active site 3, topological domain 2, sequence conflict 2, chain 1, transmembrane region 1, domain 1, glycosylation site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P08910-F1 | 91.06 | 0.76 |
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): 207 (nucleophile); 345 (charge relay system); 376 (charge relay system)
Glycosylation sites (1): 136
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 344 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, MULLIGHAN_NPM1_SIGNATURE_3_UP, PAX4_01, GOBP_CELLULAR_RESPONSE_TO_LIPID, JAEGER_METASTASIS_DN, TGCACTT_MIR519C_MIR519B_MIR519A, GOCC_SECRETORY_GRANULE, CMYB_01, GOZGIT_ESR1_TARGETS_DN, GOBP_MALE_GAMETE_GENERATION, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SPERM_CAPACITATION, GOBP_GLYCEROLIPID_METABOLIC_PROCESS
GO Biological Process (13): acrosome reaction (GO:0007340), response to wounding (GO:0009611), smooth muscle cell migration (GO:0014909), negative regulation of smooth muscle cell migration (GO:0014912), response to progesterone (GO:0032570), steroid hormone receptor signaling pathway (GO:0043401), acylglycerol catabolic process (GO:0046464), sperm capacitation (GO:0048240), medium-chain fatty acid biosynthetic process (GO:0051792), medium-chain fatty acid catabolic process (GO:0051793), lipid metabolic process (GO:0006629), lipid catabolic process (GO:0016042), nuclear receptor-mediated steroid hormone signaling pathway (GO:0030518)
GO Molecular Function (8): nuclear steroid receptor activity (GO:0003707), triacylglycerol lipase activity (GO:0004806), acetylesterase activity (GO:0008126), hormone binding (GO:0042562), monoacylglycerol lipase activity (GO:0047372), diacylglycerol lipase activity (GO:0120516), hydrolase activity (GO:0016787), carboxylic ester hydrolase activity (GO:0052689)
GO Cellular Component (8): acrosomal vesicle (GO:0001669), sperm flagellum (GO:0036126), sperm plasma membrane (GO:0097524), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020), motile cilium (GO:0031514), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipase activity | 3 |
| medium-chain fatty acid metabolic process | 2 |
| carboxylic ester hydrolase activity | 2 |
| cellular anatomical structure | 2 |
| membrane fusion involved in acrosome reaction | 1 |
| single fertilization | 1 |
| reproductive process | 1 |
| acrosomal vesicle exocytosis | 1 |
| response to stress | 1 |
| muscle cell migration | 1 |
| smooth muscle cell migration | 1 |
| regulation of smooth muscle cell migration | 1 |
| negative regulation of cell migration | 1 |
| response to steroid hormone | 1 |
| response to ketone | 1 |
| hormone-mediated signaling pathway | 1 |
| cellular response to steroid hormone stimulus | 1 |
| acylglycerol metabolic process | 1 |
| neutral lipid catabolic process | 1 |
| glycerolipid catabolic process | 1 |
| developmental process involved in reproduction | 1 |
| spermatid development | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| cell maturation | 1 |
| fatty acid biosynthetic process | 1 |
| fatty acid catabolic process | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| catabolic process | 1 |
| steroid hormone receptor signaling pathway | 1 |
| nuclear receptor-mediated signaling pathway | 1 |
| nuclear receptor activity | 1 |
| nuclear receptor-mediated steroid hormone signaling pathway | 1 |
| short-chain carboxylesterase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| secretory granule | 1 |
| 9+2 motile cilium | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1006 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ABHD2 | SPA17 | Q15506 | 829 |
| ABHD2 | ZPBP | Q9BS86 | 689 |
| ABHD2 | PRKAR2A | P13861 | 592 |
| ABHD2 | CATSPER1 | Q8NEC5 | 589 |
| ABHD2 | ABHD16A | O95870 | 568 |
| ABHD2 | ABHD16B | Q9H3Z7 | 548 |
| ABHD2 | ABHD4 | Q8TB40 | 545 |
| ABHD2 | SIAE | Q9HAT2 | 519 |
| ABHD2 | ABHD10 | Q9NUJ1 | 500 |
| ABHD2 | ABHD8 | Q96I13 | 489 |
| ABHD2 | ABHD11 | Q8NFV4 | 483 |
| ABHD2 | ABHD12 | Q8N2K0 | 483 |
| ABHD2 | ABHD18 | Q0P651 | 478 |
| ABHD2 | ABHD6 | Q9BV23 | 476 |
| ABHD2 | ABHD14A | Q9BUJ0 | 469 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LAMP5 | ABHD2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A6 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (17): ABHD2 (Affinity Capture-RNA), ABHD2 (Affinity Capture-RNA), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Affinity Capture-MS), ABHD2 (Affinity Capture-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS), ABHD2 (Proximity Label-MS)
ESM2 similar proteins: A2A7Z8, A7LB60, P08910, P0DKC5, P0DKC6, P22760, P70683, P83006, Q05AK6, Q0P5B7, Q13093, Q14032, Q1LZ86, Q28017, Q32LS6, Q4R2Y9, Q4V8A1, Q502J0, Q5EA42, Q5PPS7, Q5VUY0, Q5VUY2, Q5XI64, Q5ZJL8, Q5ZKL5, Q60963, Q63276, Q6DHN0, Q6GLL2, Q6IE26, Q6P093, Q7L211, Q7M370, Q7SY73, Q7Z5M8, Q802V6, Q80UX8, Q8BM81, Q8IUS5, Q8R2Y0
Diamond homologs: P08910, Q05AK6, Q24093, Q4R2Y9, Q5EA42, Q802V6, Q9QXM0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 9 |
| Likely pathogenic | 1 |
| Uncertain significance | 44 |
| Likely benign | 1 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1340806 | GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 | Pathogenic |
| 146259 | GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 | Pathogenic |
| 147691 | GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 | Pathogenic |
| 153554 | GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 | Pathogenic |
| 394871 | GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 | Pathogenic |
| 395560 | GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 | Pathogenic |
| 564229 | GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 | Pathogenic |
| 815743 | GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 | Pathogenic |
| 983158 | GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 | Pathogenic |
| 443650 | GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 | Likely pathogenic |
SpliceAI
2771 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:89116319:CAGAT:C | acceptor_loss | 1.0000 |
| 15:89116320:A:AG | acceptor_gain | 1.0000 |
| 15:89116320:A:T | acceptor_loss | 1.0000 |
| 15:89116321:G:GA | acceptor_gain | 1.0000 |
| 15:89116517:AAAGA:A | donor_gain | 1.0000 |
| 15:89116518:AAGA:A | donor_gain | 1.0000 |
| 15:89116518:AAGAG:A | donor_loss | 1.0000 |
| 15:89116519:AGA:A | donor_gain | 1.0000 |
| 15:89116519:AGAG:A | donor_loss | 1.0000 |
| 15:89116520:GA:G | donor_gain | 1.0000 |
| 15:89116520:GAG:G | donor_gain | 1.0000 |
| 15:89116521:AGT:A | donor_loss | 1.0000 |
| 15:89116522:G:GG | donor_gain | 1.0000 |
| 15:89116523:TGA:T | donor_loss | 1.0000 |
| 15:89116524:GAG:G | donor_loss | 1.0000 |
| 15:89116525:A:AC | donor_loss | 1.0000 |
| 15:89151675:A:AG | acceptor_gain | 1.0000 |
| 15:89151676:G:GA | acceptor_gain | 1.0000 |
| 15:89151676:GAT:G | acceptor_gain | 1.0000 |
| 15:89151676:GATAC:G | acceptor_gain | 1.0000 |
| 15:89151851:AGGTG:A | donor_loss | 1.0000 |
| 15:89151852:GGTG:G | donor_loss | 1.0000 |
| 15:89151853:G:T | donor_loss | 1.0000 |
| 15:89151854:T:A | donor_loss | 1.0000 |
| 15:89155365:A:AG | acceptor_gain | 1.0000 |
| 15:89155365:AGAT:A | acceptor_gain | 1.0000 |
| 15:89155366:G:GG | acceptor_gain | 1.0000 |
| 15:89155366:GAT:G | acceptor_gain | 1.0000 |
| 15:89155366:GATG:G | acceptor_gain | 1.0000 |
| 15:89155531:TATGG:T | donor_loss | 1.0000 |
AlphaMissense
2805 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:89116395:C:A | A23D | 1.000 |
| 15:89151696:T:A | W72R | 1.000 |
| 15:89151696:T:C | W72R | 1.000 |
| 15:89151699:G:A | G73R | 1.000 |
| 15:89151699:G:C | G73R | 1.000 |
| 15:89151699:G:T | G73W | 1.000 |
| 15:89151700:G:A | G73E | 1.000 |
| 15:89155387:T:C | C131R | 1.000 |
| 15:89155389:C:G | C131W | 1.000 |
| 15:89155393:G:A | G133R | 1.000 |
| 15:89155393:G:C | G133R | 1.000 |
| 15:89155394:G:A | G133E | 1.000 |
| 15:89155436:T:A | V147D | 1.000 |
| 15:89155463:G:C | R156P | 1.000 |
| 15:89155479:C:A | N161K | 1.000 |
| 15:89155479:C:G | N161K | 1.000 |
| 15:89155486:G:C | G164R | 1.000 |
| 15:89155487:G:A | G164D | 1.000 |
| 15:89155525:T:C | F177L | 1.000 |
| 15:89155527:C:A | F177L | 1.000 |
| 15:89155527:C:G | F177L | 1.000 |
| 15:89175886:G:C | G205R | 1.000 |
| 15:89175887:G:A | G205D | 1.000 |
| 15:89175887:G:T | G205V | 1.000 |
| 15:89175893:G:T | S207I | 1.000 |
| 15:89175898:G:C | G209R | 1.000 |
| 15:89175899:G:A | G209D | 1.000 |
| 15:89175899:G:T | G209V | 1.000 |
| 15:89175906:C:A | N211K | 1.000 |
| 15:89175906:C:G | N211K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000048597 (15:89104073 A>G), RS1000079589 (15:89097913 G>A), RS1000080088 (15:89145262 G>A), RS1000148780 (15:89099330 G>A), RS1000157687 (15:89149317 G>A), RS1000184764 (15:89134867 A>G), RS1000247301 (15:89103807 C>T), RS1000273718 (15:89181255 A>G,T), RS1000280295 (15:89115915 G>A), RS1000310868 (15:89086603 C>T), RS1000365585 (15:89156521 T>G), RS1000379745 (15:89161887 C>T), RS1000423404 (15:89097601 T>A), RS1000431116 (15:89200100 ATG>A), RS1000438383 (15:89119374 G>A)
Disease associations
OMIM: gene MIM:612196 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary amenorrhea (MONDO:1060208)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_356 | Obesity-related traits | 8.000000e-06 |
| GCST003116_4 | Coronary artery disease | 4.000000e-08 |
| GCST003876_11 | Gut microbiota (beta diversity) | 5.000000e-08 |
| GCST004750_10 | Squamous cell lung carcinoma | 9.000000e-06 |
| GCST004787_61 | Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) | 1.000000e-07 |
| GCST004862_104 | Itch intensity from mosquito bite adjusted by bite size | 2.000000e-06 |
| GCST004865_17 | Itch intensity from mosquito bite adjusted by bite size | 6.000000e-07 |
| GCST004868_2 | Advanced age-related macular degeneration | 1.000000e-07 |
| GCST007096_9 | Pulse pressure | 2.000000e-08 |
| GCST008839_83 | Height | 2.000000e-12 |
| GCST010479_38 | Coronary artery disease | 4.000000e-10 |
| GCST010866_64 | Coronary artery disease | 2.000000e-26 |
| GCST010867_13 | Coronary artery disease | 9.000000e-18 |
| GCST011365_146 | Myocardial infarction | 6.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005115 | metabolic rate measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0005763 | pulse pressure 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 — 2-Acylglycerol ester turnover
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases expression, increases reaction | 6 |
| Valproic Acid | affects expression, decreases methylation, increases expression | 4 |
| bisphenol A | increases expression, decreases expression | 3 |
| Acetaminophen | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases methylation | 3 |
| sodium arsenite | affects expression, affects cotreatment, decreases expression, increases abundance | 2 |
| bisphenol S | decreases methylation, affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methyleugenol | decreases expression | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| trichostatin A | affects expression | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | decreases expression | 1 |
| picene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| dimethylarsinous acid | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | decreases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07164248 | Not specified | COMPLETED | Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): age-related macular degeneration, primary amenorrhea, squamous cell lung carcinoma