ABHD4
gene geneOn this page
Also known as FLJ12816
Summary
ABHD4 (abhydrolase domain containing 4, N-acyl phospholipase B, HGNC:20154) is a protein-coding gene on chromosome 14q11.2, encoding (Lyso)-N-acylphosphatidylethanolamine lipase (Q8TB40). Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE).
Predicted to enable lysophosphatidic acid acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion.
Source: NCBI Gene 63874 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 76 total — 9 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_022060
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20154 |
| Approved symbol | ABHD4 |
| Name | abhydrolase domain containing 4, N-acyl phospholipase B |
| Location | 14q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12816 |
| Ensembl gene | ENSG00000100439 |
| Ensembl biotype | protein_coding |
| OMIM | 619728 |
| Entrez | 63874 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000216327, ENST00000418446, ENST00000428304, ENST00000489928, ENST00000537243, ENST00000539344, ENST00000541962, ENST00000542041, ENST00000544562, ENST00000545034, ENST00000870569, ENST00000919857
RefSeq mRNA: 2 — MANE Select: NM_022060
NM_001392009, NM_022060
CCDS: CCDS9572
Canonical transcript exons
ENST00000428304 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001665036 | 22610859 | 22612963 |
| ENSE00002282278 | 22598300 | 22598329 |
| ENSE00003481727 | 22601667 | 22601755 |
| ENSE00003524408 | 22609724 | 22609910 |
| ENSE00003566699 | 22603390 | 22603762 |
| ENSE00003676412 | 22606422 | 22606533 |
| ENSE00003685278 | 22603925 | 22604079 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 94.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.2880 / max 256.5482, expressed in 1794 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138812 | 25.3072 | 1794 |
| 138811 | 0.6548 | 405 |
| 138814 | 0.3260 | 146 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 94.52 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.96 | gold quality |
| right testis | UBERON:0004534 | 92.89 | gold quality |
| popliteal artery | UBERON:0002250 | 92.68 | gold quality |
| tibial artery | UBERON:0007610 | 92.66 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.51 | gold quality |
| left testis | UBERON:0004533 | 92.48 | gold quality |
| aorta | UBERON:0000947 | 92.36 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.21 | gold quality |
| ascending aorta | UBERON:0001496 | 92.14 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.06 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.70 | gold quality |
| ectocervix | UBERON:0012249 | 91.52 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.50 | gold quality |
| esophagus | UBERON:0001043 | 91.47 | gold quality |
| gall bladder | UBERON:0002110 | 91.46 | gold quality |
| ventricular zone | UBERON:0003053 | 91.41 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.31 | gold quality |
| right coronary artery | UBERON:0001625 | 91.17 | gold quality |
| testis | UBERON:0000473 | 91.05 | gold quality |
| body of stomach | UBERON:0001161 | 91.04 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.94 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.90 | gold quality |
| body of uterus | UBERON:0009853 | 90.67 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.57 | gold quality |
| adrenal gland | UBERON:0002369 | 90.45 | gold quality |
| lower esophagus | UBERON:0013473 | 90.34 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.30 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.28 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 11.39 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- Lysophospholipase/phospholipase B (EC 3.1.1.5) specific for N-acyl phosphatidylethanolamine (NAPE) suggesting a role in the biosynthesis of N-acyl ethanolamines including the endocannabinoid anandamide. (PMID:16818490)
- ABHD4 is a novel genetic regulator of anoikis sensitivity. (PMID:22488300)
- ABHD4-dependent developmental anoikis safeguards the embryonic brain. (PMID:32868797)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | abhd4 | ENSDARG00000102887 |
| mus_musculus | Abhd4 | ENSMUSG00000040997 |
| rattus_norvegicus | Abhd4 | ENSRNOG00000009244 |
| drosophila_melanogaster | puml | FBGN0033226 |
| caenorhabditis_elegans | C31H5.1 | WBGENE00007854 |
| caenorhabditis_elegans | WBGENE00017335 | |
| caenorhabditis_elegans | WBGENE00018077 | |
| caenorhabditis_elegans | WBGENE00019525 | |
| caenorhabditis_elegans | WBGENE00022258 | |
| caenorhabditis_elegans | WBGENE00022259 | |
| caenorhabditis_elegans | WBGENE00022260 |
Paralogs (12): ABHD5 (ENSG00000011198), EPHX3 (ENSG00000105131), ABHD11 (ENSG00000106077), MEST (ENSG00000106484), ABHD14B (ENSG00000114779), EPHX2 (ENSG00000120915), ABHD8 (ENSG00000127220), BPHL (ENSG00000137274), ABHD6 (ENSG00000163686), EPHX4 (ENSG00000172031), SERHL2 (ENSG00000183569), ABHD14A (ENSG00000248487)
Protein
Protein identifiers
(Lyso)-N-acylphosphatidylethanolamine lipase — Q8TB40 (reviewed: Q8TB40)
Alternative names: Alpha/beta hydrolase domain-containing protein 4, Alpha/beta-hydrolase 4
All UniProt accessions (6): Q8TB40, F5GZC9, F5H067, F5H6T0, H0YFD5, J3KMW0
UniProt curated annotations — full annotation on UniProt →
Function. Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine.
Similarity. Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TB40-1 | 1 | yes |
| Q8TB40-2 | 2 |
RefSeq proteins (2): NP_001378938, NP_071343* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000073 | AB_hydrolase_1 | Domain |
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
Pfam: PF00561
Catalyzed reactions (Rhea), 10 shown:
- N-hexadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-hexadecanoyl-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:45384)
- N-octadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-octadecanoyl-sn-glycero-3-phospho-ethanolamine + (9Z)-octadecenoate + H(+) (RHEA:45388)
- N-eicosanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-eicosanoyl-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:45392)
- N,1-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:45396)
- N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:45400)
- N,1-diacyl-sn-glycero-3-phosphoethanolamine + H2O = N-acyl-sn-glycero-3-phosphoethanolamine + a fatty acid + H(+) (RHEA:45420)
- N-hexadecanoyl-1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-hexadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:45424)
- an N-acyl-1,2-diacyl-sn-glycero-3-phosphoethanolamine + H2O = N,1-diacyl-sn-glycero-3-phosphoethanolamine + a fatty acid + H(+) (RHEA:45460)
- 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(N-hexadecanoyl)-serine + H2O = 1-octadecanoyl-2-hydroxy-sn-glycero-3-phospho-(N-hexadecanoyl)-serine + (9Z)-octadecenoate + H(+) (RHEA:55236)
- 1-O-(1Z-octadecenoyl)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-N-hexadecanoyl-ethanolamine + H2O = 1-O-(1Z-octadecenyl)-sn-glycero-3-phospho-N-hexadecanoyl-ethanolamine + (9Z)-octadecenoate + H(+) (RHEA:55240)
UniProt features (5 total): splice variant 2, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TB40-F1 | 88.30 | 0.71 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-1482839 | Acyl chain remodelling of PE |
| R-HSA-1430728 | Metabolism |
| R-HSA-1483206 | Glycerophospholipid biosynthesis |
| R-HSA-1483257 | Phospholipid metabolism |
| R-HSA-556833 | Metabolism of lipids |
MSigDB gene sets: 206 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, AP1_01, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, XU_GH1_AUTOCRINE_TARGETS_UP, FISCHER_G1_S_CELL_CYCLE, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, AP4_Q6, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS
GO Biological Process (7): phosphatidic acid biosynthetic process (GO:0006654), lipid catabolic process (GO:0016042), phosphatidylethanolamine acyl-chain remodeling (GO:0036152), lipid homeostasis (GO:0055088), N-acylphosphatidylethanolamine metabolic process (GO:0070292), lipid metabolic process (GO:0006629), glycerophospholipid metabolic process (GO:0006650)
GO Molecular Function (4): phosphatidylcholine lysophospholipase A1 activity (GO:0004622), hydrolase activity (GO:0016787), lysophosphatidic acid acyltransferase activity (GO:0042171), protein binding (GO:0005515)
GO Cellular Component (2): endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811)
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 |
|---|---|
| phosphatidic acid metabolic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| lipid metabolic process | 1 |
| catabolic process | 1 |
| phosphatidylcholine metabolic process | 1 |
| chemical homeostasis | 1 |
| phosphatidylethanolamine metabolic process | 1 |
| primary metabolic process | 1 |
| phospholipid metabolic process | 1 |
| glycerolipid metabolic process | 1 |
| lysophospholipase A1 activity | 1 |
| catalytic activity | 1 |
| lysophospholipid acyltransferase activity | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1374 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ABHD4 | GDE1 | Q9NZC3 | 864 |
| ABHD4 | NAPEPLD | Q6IQ20 | 852 |
| ABHD4 | ABHD12 | Q8N2K0 | 739 |
| ABHD4 | ABHD6 | Q9BV23 | 735 |
| ABHD4 | MGLL | Q99685 | 721 |
| ABHD4 | FAAH | O00519 | 720 |
| ABHD4 | DAGLA | Q9Y4D2 | 714 |
| ABHD4 | DAGLB | Q8NCG7 | 678 |
| ABHD4 | NAAA | Q02083 | 658 |
| ABHD4 | FAAH2 | Q6GMR7 | 623 |
| ABHD4 | ABHD3 | Q8WU67 | 612 |
| ABHD4 | GPR55 | Q9Y2T6 | 546 |
| ABHD4 | ABHD2 | P08910 | 545 |
| ABHD4 | GDPD1 | Q8N9F7 | 543 |
| ABHD4 | ABHD16A | O95870 | 542 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BNIP2 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD4 | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REEP5 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLIN3 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IGFBP5 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD4 | HTATIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COL4A5 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD4 | DERL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD4 | AURKAIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD4 | RABAC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD4 | INSIG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD4 | CSNK2B | psi-mi:“MI:0915”(physical association) | 0.370 |
| ABHD4 | TK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| ABHD4 | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ABHD4 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ABHD4 | REEP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ABHD4 | PLIN3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| IGFBP5 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| COL4A5 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DERL1 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| INSIG2 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HTATIP2 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): PLIN3 (Two-hybrid), RABAC1 (Two-hybrid), HTATIP2 (Two-hybrid), IGFBP5 (Two-hybrid), INSIG2 (Two-hybrid), REEP5 (Two-hybrid), DERL1 (Two-hybrid), BNIP2 (Two-hybrid), CMTM5 (Two-hybrid), AURKAIP1 (Two-hybrid), DGAT2L6 (Two-hybrid), COL4A5 (Two-hybrid), ABHD4 (Affinity Capture-MS), ABHD4 (Proximity Label-MS), ABHD4 (Two-hybrid)
ESM2 similar proteins: A5GFX0, A8Y5H7, F7B909, O59707, P35200, P49675, P51557, P59095, P59096, P70114, Q03606, Q04006, Q05776, Q0V9N0, Q14849, Q16KN5, Q28996, Q29JQ0, Q4R5S9, Q54G07, Q54VC7, Q58DB0, Q5BKH5, Q5EA59, Q5RBI4, Q61542, Q6GM21, Q6NTS7, Q6P9U4, Q6TMK8, Q8GXB1, Q8TB40, Q8VD66, Q8VE85, Q8WTS1, Q92503, Q96N28, Q9CYY7, Q9DE06, Q9DEB4
Diamond homologs: A1VUV0, A4JPX5, A5I3F5, A8YWL3, B2JQW2, C0ZKI1, C3K630, C7TMK0, D5H0J3, O52866, O83041, P17548, P46541, P46542, P46544, P47229, P52278, P52279, P96084, Q03NE0, Q184M8, Q1G8L9, Q49KF8, Q52011, Q52036, Q59324, Q5EA59, Q5FMT1, Q76KX0, Q87DF8, Q890D8, Q8KZP5, Q8TB40, Q8VD66, Q97A76, Q97UA2, Q9KWQ6, Q9PD69, Q9S2L4, A1AGT6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 9 |
| Likely pathogenic | 1 |
| Uncertain significance | 58 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1703540 | GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) | Pathogenic |
| 253659 | GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 | Pathogenic |
| 3391854 | GRCh37/hg19 14q11.2(chr14:20875269-23659582)x3 | Pathogenic |
| 57246 | GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 | Pathogenic |
| 57743 | GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 | Pathogenic |
| 59932 | GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 | Pathogenic |
| 625814 | GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) | Pathogenic |
| 815628 | GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 | Pathogenic |
| 815629 | GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1 | Pathogenic |
| 666446 | GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3 | Likely pathogenic |
SpliceAI
1068 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:22598327:GCA:G | donor_gain | 1.0000 |
| 14:22598330:G:GG | donor_gain | 1.0000 |
| 14:22601663:CCA:C | acceptor_loss | 1.0000 |
| 14:22601754:GT:G | donor_gain | 1.0000 |
| 14:22601755:TG:T | donor_loss | 1.0000 |
| 14:22601756:G:GA | donor_loss | 1.0000 |
| 14:22601756:G:GG | donor_gain | 1.0000 |
| 14:22601757:T:G | donor_loss | 1.0000 |
| 14:22603386:CCA:C | acceptor_loss | 1.0000 |
| 14:22603388:A:AC | acceptor_loss | 1.0000 |
| 14:22603641:GA:G | donor_gain | 1.0000 |
| 14:22606419:CAG:C | acceptor_loss | 1.0000 |
| 14:22606420:A:AC | acceptor_loss | 1.0000 |
| 14:22606420:A:AG | acceptor_gain | 1.0000 |
| 14:22606420:AG:A | acceptor_gain | 1.0000 |
| 14:22606420:AGG:A | acceptor_gain | 1.0000 |
| 14:22606421:G:GG | acceptor_gain | 1.0000 |
| 14:22606421:GG:G | acceptor_gain | 1.0000 |
| 14:22606421:GGG:G | acceptor_gain | 1.0000 |
| 14:22606421:GGGC:G | acceptor_gain | 1.0000 |
| 14:22606421:GGGCC:G | acceptor_gain | 1.0000 |
| 14:22606530:CCAG:C | donor_loss | 1.0000 |
| 14:22606531:CAGG:C | donor_loss | 1.0000 |
| 14:22606532:AGGTG:A | donor_loss | 1.0000 |
| 14:22606533:GGTGA:G | donor_loss | 1.0000 |
| 14:22606534:G:GA | donor_loss | 1.0000 |
| 14:22606535:T:A | donor_loss | 1.0000 |
| 14:22609719:GACA:G | acceptor_loss | 1.0000 |
| 14:22609721:CA:C | acceptor_loss | 1.0000 |
| 14:22609722:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
2245 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:22603527:T:A | W84R | 1.000 |
| 14:22603527:T:C | W84R | 1.000 |
| 14:22603587:G:C | G104R | 1.000 |
| 14:22603590:T:C | F105L | 1.000 |
| 14:22603592:C:A | F105L | 1.000 |
| 14:22603592:C:G | F105L | 1.000 |
| 14:22603668:T:A | W131R | 1.000 |
| 14:22603668:T:C | W131R | 1.000 |
| 14:22603672:G:C | R132P | 1.000 |
| 14:22604071:G:A | G211E | 1.000 |
| 14:22601726:T:C | L28P | 0.999 |
| 14:22603510:G:A | G78E | 0.999 |
| 14:22603579:A:C | D101A | 0.999 |
| 14:22603579:A:T | D101V | 0.999 |
| 14:22603588:G:A | G104D | 0.999 |
| 14:22603588:G:T | G104V | 0.999 |
| 14:22603593:G:T | G106W | 0.999 |
| 14:22603594:G:A | G106E | 0.999 |
| 14:22603599:A:C | S108R | 0.999 |
| 14:22603600:G:T | S108I | 0.999 |
| 14:22603601:C:A | S108R | 0.999 |
| 14:22603601:C:G | S108R | 0.999 |
| 14:22603606:G:T | R110M | 0.999 |
| 14:22603707:G:T | G144W | 0.999 |
| 14:22603708:G:A | G144E | 0.999 |
| 14:22603708:G:T | G144V | 0.999 |
| 14:22603719:G:A | G148R | 0.999 |
| 14:22603719:G:C | G148R | 0.999 |
| 14:22603720:G:A | G148E | 0.999 |
| 14:22603720:G:T | G148V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000184763 (14:22600513 C>T), RS1000362752 (14:22607530 G>A,C), RS1000403768 (14:22602402 C>T), RS1000652725 (14:22597270 C>A), RS1001284841 (14:22600841 T>G), RS1001289504 (14:22612462 T>C), RS1001637172 (14:22608947 G>A,T), RS1001853342 (14:22610300 G>A), RS1001919628 (14:22609173 T>A,C), RS1002069663 (14:22604471 C>A,T), RS1002276874 (14:22598467 G>A,T), RS1002507771 (14:22600404 C>T), RS1002734384 (14:22598751 G>T), RS1002921238 (14:22608697 T>C), RS1002959981 (14:22602697 C>T)
Disease associations
OMIM: gene MIM:619728 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003253_7 | Microalbuminuria | 4.000000e-06 |
| GCST009391_702 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010356 | lysophosphatidylcholine 14:0 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
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression | 4 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 3 |
| Cisplatin | increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| sulforaphane | increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| chloroacetaldehyde | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| clothianidin | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| 1-(2-trifluoromethoxyphenyl)-2-nitroethanone | increases expression | 1 |
| Dasatinib | increases expression | 1 |
| Cidofovir | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Azathioprine | increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Clodronic Acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.