LPCAT4

gene
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Also known as FLJ10257LPAAT-etaLPEAT2LPLAT10

Summary

LPCAT4 (lysophosphatidylcholine acyltransferase 4, HGNC:30059) is a protein-coding gene on chromosome 15q14, encoding Lysophospholipid acyltransferase LPCAT4 (Q643R3). Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl-lysophatidylethanolamine to 1-alken….

Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).

Source: NCBI Gene 254531 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 83 total
  • MANE Select transcript: NM_153613

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30059
Approved symbolLPCAT4
Namelysophosphatidylcholine acyltransferase 4
Location15q14
Locus typegene with protein product
StatusApproved
AliasesFLJ10257, LPAAT-eta, LPEAT2, LPLAT10
Ensembl geneENSG00000176454
Ensembl biotypeprotein_coding
OMIM612039
Entrez254531

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 5 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 TEC

ENST00000314891, ENST00000562404, ENST00000562431, ENST00000563240, ENST00000563748, ENST00000566581, ENST00000567507, ENST00000569804, ENST00000623384, ENST00000927809, ENST00000927810, ENST00000927811, ENST00000954576

RefSeq mRNA: 1 — MANE Select: NM_153613 NM_153613

CCDS: CCDS32191

Canonical transcript exons

ENST00000314891 — 14 exons

ExonStartEnd
ENSE000012531493436401334364073
ENSE000012532253436342234363456
ENSE000012533413436698734367196
ENSE000013796143436419434364306
ENSE000013804823436366134363719
ENSE000013889573436278234362836
ENSE000034939673436011134360209
ENSE000035242063436219634362321
ENSE000035255963436555934365701
ENSE000035403123436257334362655
ENSE000036302573436140034361532
ENSE000036556513435958934359745
ENSE000036930233436500834365228
ENSE000037141793435863334359302

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5757 / max 213.2970, expressed in 1789 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
14925220.24211787
1492510.3337125

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right hemisphere of cerebellumUBERON:001489099.48gold quality
cerebellar hemisphereUBERON:000224599.42gold quality
cerebellar cortexUBERON:000212999.40gold quality
lower esophagus mucosaUBERON:003583499.19gold quality
cerebellumUBERON:000203798.85gold quality
right frontal lobeUBERON:000281098.31gold quality
mucosa of transverse colonUBERON:000499198.27gold quality
apex of heartUBERON:000209897.73gold quality
transverse colonUBERON:000115797.49gold quality
rectumUBERON:000105297.38gold quality
nucleus accumbensUBERON:000188297.36gold quality
Brodmann (1909) area 9UBERON:001354097.35gold quality
small intestine Peyer’s patchUBERON:000345497.13gold quality
esophagus mucosaUBERON:000246996.93gold quality
cingulate cortexUBERON:000302796.85gold quality
anterior cingulate cortexUBERON:000983596.84gold quality
lateral nuclear group of thalamusUBERON:000273696.80gold quality
caudate nucleusUBERON:000187396.70gold quality
putamenUBERON:000187496.70gold quality
ectocervixUBERON:001224996.70gold quality
cerebellar vermisUBERON:000472096.51gold quality
dorsolateral prefrontal cortexUBERON:000983496.44gold quality
ponsUBERON:000098896.20gold quality
mucosa of stomachUBERON:000119996.18gold quality
body of stomachUBERON:000116196.01gold quality
prefrontal cortexUBERON:000045195.99gold quality
primary visual cortexUBERON:000243695.91gold quality
small intestineUBERON:000210895.82gold quality
frontal poleUBERON:000279595.80gold quality
paraflocculusUBERON:000535195.74gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes18.58
E-GEOD-93593yes6.61
E-MTAB-10137no8.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting LPCAT4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-3163100.0077.238605
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-4283100.0066.422097
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-185-3P99.9567.011743
HSA-MIR-3529-3P99.9073.553045
HSA-MIR-153-5P99.8973.866317
HSA-MIR-431999.7669.832586
HSA-MIR-4649-3P99.5666.901783
HSA-MIR-608199.4866.071446
HSA-MIR-608399.4768.732393
HSA-MIR-125A-5P99.3670.591640
HSA-MIR-125B-5P99.3670.361662
HSA-MIR-410-3P99.2769.982457
HSA-MIR-446898.0166.851187
HSA-MIR-10397-3P97.7865.70601
HSA-MIR-797695.7565.671186
HSA-MIR-874-3P95.0265.66806

Literature-anchored findings (GeneRIF, showing 4)

  • report the cloning and characterization of a novel human 1-acyl-sn-glycerol-3-phosphate acyltransferase member AGPAT7 (1-acyl-sn-glycerol-3-phosphate acyltransferase 7) gene, which was mapped to human chromosome 15q14 (PMID:16243729)
  • LPEAT2 as an important enzyme in the biosynthesis of ethanolamine-containing phospholipids, especially in brain. (PMID:18458083)
  • LPCAT4 is overexpressed and involved in the deregulation of PC(16:0/16:1) in colorectal cancer. (PMID:23815430)
  • LPCAT4 Knockdown Alters Barrier Integrity and Cellular Bioenergetics in Human Urothelium. (PMID:36233185)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriolpcat4ENSDARG00000035028
mus_musculusLpcat4ENSMUSG00000027134
rattus_norvegicusLpcat4ENSRNOG00000005058
drosophila_melanogasterLPCATFBGN0052699

Paralogs (4): LPCAT2 (ENSG00000087253), GPAT3 (ENSG00000138678), LPCAT1 (ENSG00000153395), GPAT4 (ENSG00000158669)

Protein

Protein identifiers

Lysophospholipid acyltransferase LPCAT4Q643R3 (reviewed: Q643R3)

Alternative names: 1-acylglycerol-3-phosphate O-acyltransferase 7, 1-acylglycerophosphocholine O-acyltransferase, 1-acylglycerophosphoserine O-acyltransferase, 1-alkenylglycerophosphoethanolamine O-acyltransferase, 1-alkylglycerophosphocholine O-acetyltransferase, Acyltransferase-like 3, Lysophosphatidylcholine acyltransferase 4, Lysophosphatidylethanolamine acyltransferase 2, Plasmalogen synthase

All UniProt accessions (2): Q643R3, H3BMK4

UniProt curated annotations — full annotation on UniProt →

Function. Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl-lysophatidylethanolamine to 1-alkenyl-phosphatidylethanolamine, lysophosphatidylglycerol and alkyl-lysophosphatidylcholine to phosphatidylglycerol and alkyl-phosphatidylcholine, respectively. In contrast, has no lysophosphatidylinositol, glycerol-3-phosphate, diacylglycerol or lysophosphatidic acid acyltransferase activity. Prefers long chain acyl-CoAs (C16, C18) as acyl donors.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed with predominant level in brain.

Pathway. Lipid metabolism; phospholipid metabolism.

Similarity. Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.

RefSeq proteins (1): NP_705841* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002123Plipid/glycerol_acylTrfaseDomain
IPR045252LPCAT1-likeDomain

Pfam: PF01553

Enzyme classification (BRENDA):

  • EC 2.3.1.23 — 1-acylglycerophosphocholine O-acyltransferase (BRENDA: 25 organisms, 283 substrates, 101 inhibitors, 64 Km, 2 kcat entries)
  • EC 2.3.1.51 — 1-acylglycerol-3-phosphate O-acyltransferase (BRENDA: 39 organisms, 381 substrates, 31 inhibitors, 32 Km, 4 kcat entries)

Substrate kinetics (BRENDA)

25 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
OLEOYL-COA0.0004–0.15215
1-ACYL-SN-GLYCERO-3-PHOSPHOCHOLINE0.0017–0.1079
1-ACYL-SN-GLYCEROL 3-PHOSPHATE0.0053–0.1258
OLEOYL-COA0.0027–0.02158
PALMITOYL-COA0.0014–0.0128
ARACHIDONOYL-COA0.0032–0.71566
1-OLEOYL-SN-GLYCEROL 3-PHOSPHATE0.0048–0.0185
PALMITOYL-COA0.0027–0.04134
STEAROYL-COA0.0021–0.2324
1-PALMITOYL-SN-GLYCERO-3-PHOSPHOCHOLINE0.0018–0.00813
1-PALMITOYL-LYSOPHOSPHATIDYLCHOLINE0.0023–0.72192
DOCOSAHEXANOYL-COA0.0031–0.01322
LINOLEOYL-COA0.0035–0.20142
LYSOPHOSPHATIDYLCHOLINE0.0131–0.0272
1-ACYL-2-LYSOPHOSPHATIDYLETHANOLAMINE0.081

Catalyzed reactions (Rhea), 12 shown:

  • a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA (RHEA:12937)
  • a 1-O-(1Z-alkenyl)-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:16245)
  • a 1-O-alkyl-sn-glycero-3-phosphocholine + acetyl-CoA = a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + CoA (RHEA:18461)
  • a 1-acyl-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:32995)
  • a 1-acyl-sn-glycero-3-phospho-L-serine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phospho-L-serine + CoA (RHEA:33191)
  • a 1-acyl-sn-glycero-3-phosphocholine + (9Z)-octadecenoyl-CoA = a 1-acyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphocholine + CoA (RHEA:33359)
  • 1-hexadecanoyl-sn-glycero-3-phospho-L-serine + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + CoA (RHEA:37531)
  • a 1-acyl-sn-glycero-3-phosphoethanolamine + (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA = 1-acyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37575)
  • a 1-O-(1Z-alkenyl)-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1-O-(1Z)-alkenyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37631)
  • a 1-O-(1Z-alkenyl)-sn-glycero-3-phosphoethanolamine + (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA = 1-O-(1Z)-alkenyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37635)
  • 1-octadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + (9Z)-octadecenoyl-CoA = 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:37647)
  • a 1-acyl-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1-acyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37731)

UniProt features (7 total): transmembrane region 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q643R3-F183.780.51

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 152

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

IDPathway
R-HSA-1482788Acyl chain remodelling of PC
R-HSA-1482801Acyl chain remodelling of PS
R-HSA-1482839Acyl chain remodelling of PE
R-HSA-1482925Acyl chain remodelling of PG
R-HSA-1483166Synthesis of PA
R-HSA-1430728Metabolism
R-HSA-1483206Glycerophospholipid biosynthesis
R-HSA-1483257Phospholipid metabolism
R-HSA-556833Metabolism of lipids

MSigDB gene sets: 157 (showing top): GOBP_PHOSPHATIDYLSERINE_ACYL_CHAIN_REMODELING, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, MATTIOLI_MGUS_VS_PCL, chr15q14, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, USF_C, GOBP_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (8): phospholipid metabolic process (GO:0006644), phosphatidic acid biosynthetic process (GO:0006654), phosphatidylglycerol acyl-chain remodeling (GO:0036148), phosphatidylserine acyl-chain remodeling (GO:0036150), phosphatidylcholine acyl-chain remodeling (GO:0036151), phosphatidylethanolamine acyl-chain remodeling (GO:0036152), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)

GO Molecular Function (12): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), lysophosphatidic acid acyltransferase activity (GO:0042171), 2-acylglycerol-3-phosphate O-acyltransferase activity (GO:0047144), 1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166), 1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184), 1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192), lysophospholipid acyltransferase activity (GO:0071617), 1-acylglycerophosphoethanolamine O-acyltransferase activity (GO:0106262), 1-acylglycerophosphoserine O-acyltransferase activity (GO:0106263), obsolete O-acyltransferase activity (GO:0008374), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Glycerophospholipid biosynthesis5
Phospholipid metabolism1
Metabolism of lipids1
Metabolism1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
acyltransferase activity, transferring groups other than amino-acyl groups5
phosphatidylcholine metabolic process2
lysophosphatidic acid acyltransferase activity2
lipid metabolic process1
organophosphate metabolic process1
phosphatidic acid metabolic process1
glycerophospholipid biosynthetic process1
phosphatidylglycerol metabolic process1
phosphatidylserine metabolic process1
primary metabolic process1
phospholipid metabolic process1
lipid biosynthetic process1
organophosphate biosynthetic process1
acylglycerol O-acyltransferase activity1
lysophospholipid acyltransferase activity1
O-acetyltransferase activity1
catalytic activity1
transferase activity1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cellular anatomical structure1

Protein interactions and networks

STRING

1274 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
LPCAT4LCLAT1Q6UWP7660
LPCAT4LPCAT3Q6P1A2649
LPCAT4AGPAT1Q99943646
LPCAT4AGPAT3Q9NRZ7636
LPCAT4MBOAT2Q6ZWT7630
LPCAT4AGPAT5Q9NUQ2624
LPCAT4AASDHQ4L235603
LPCAT4AGPAT4Q9NRZ5601
LPCAT4AGPAT2O15120541
LPCAT4MBOAT1Q6ZNC8506
LPCAT4TAFAZZINQ16635498
LPCAT4AUP1Q9Y679471
LPCAT4GPAT2Q6NUI2453
LPCAT4TMC4Q7Z404444
LPCAT4MBOAT7Q96N66440

IntAct

52 interactions, top by confidence:

ABTypeScore
HAVCR2TCAF2psi-mi:“MI:0914”(association)0.530
LPCAT4DUSP14psi-mi:“MI:0914”(association)0.530
TNFSF8LGALS8psi-mi:“MI:0914”(association)0.530
LDLRAD1ADAM10psi-mi:“MI:0914”(association)0.530
SLC6A8ILVBLpsi-mi:“MI:0914”(association)0.530
ERBB2LPCAT4psi-mi:“MI:0915”(physical association)0.370
CFTRLPCAT4psi-mi:“MI:0915”(physical association)0.370
SCGB2A2GXYLT2psi-mi:“MI:0914”(association)0.350
TMEM25FUZpsi-mi:“MI:0914”(association)0.350
CHRM4GEMIN2psi-mi:“MI:0914”(association)0.350
TMEM223psi-mi:“MI:0914”(association)0.350
KCNA2TMEM129psi-mi:“MI:0914”(association)0.350
IGHMESYT2psi-mi:“MI:0914”(association)0.350
TTMPTMEM223psi-mi:“MI:0914”(association)0.350
TTYH1TMEM223psi-mi:“MI:0914”(association)0.350
TSPAN15TMEM223psi-mi:“MI:0914”(association)0.350
RAMP2GXYLT2psi-mi:“MI:0914”(association)0.350
HCSTTMEM120Bpsi-mi:“MI:0914”(association)0.350
TSPAN10KLRG2psi-mi:“MI:0914”(association)0.350
LRRC25POTEFpsi-mi:“MI:0914”(association)0.350
PCDHGC4psi-mi:“MI:0914”(association)0.350
TMEM59GPR89Apsi-mi:“MI:0914”(association)0.350
GPR12TLCD2psi-mi:“MI:0914”(association)0.350
TMEM25NME4psi-mi:“MI:0914”(association)0.350
CHRM4TNPO2psi-mi:“MI:0914”(association)0.350
CD3DCLGNpsi-mi:“MI:0914”(association)0.350

BioGRID (74): LPCAT4 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), SPG7 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), USP33 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), LPCAT4 (Affinity Capture-MS), LPCAT4 (Two-hybrid)

ESM2 similar proteins: A0A061IR73, A0A7N9VSG0, A7YSY2, D3KCC4, D3ZU57, D4A2B7, O08644, O15197, O19179, O43542, O75064, O95382, P0C0K6, P0C0K7, P51840, P52785, P52824, P54777, Q02846, Q05932, Q13470, Q13608, Q1HG60, Q3ZBE0, Q4KM32, Q5JZY3, Q643R3, Q6MG64, Q6NVG1, Q6ZPS2, Q76MJ5, Q7TNJ2, Q80SX8, Q8BYG9, Q8IZY2, Q8NFF5, Q8R5G7, Q8TDZ2, Q8WWN8, Q91V24

Diamond homologs: P0C1Q3, Q0KHU5, Q1HAQ0, Q1LWG4, Q28C60, Q3TFD2, Q4V8A1, Q502J0, Q643R3, Q6DCK1, Q6NVG1, Q7L5N7, Q8BYI6, Q8L7R3, Q8NF37, Q9D5U0, Q9HW50, Q8S8S2, O73761, P43080, P46065, Q16982, Q8VBV8, G5EDN6, P48451, Q24214, Q3HRN9, P0A257, P0A258, P26647, A0AAR7, B3DLU1, B3VSB7, F8VPZ3, M9PD06, O73763, O81445, P05933, P21457, P22728

SIGNOR signaling

4 interactions.

AEffectBMechanism
LPCAT4“up-regulates quantity”1,2-diacyl-sn-glycero-3-phosphocholine“chemical modification”
LPCAT4“up-regulates quantity”“coenzyme A(4-)”“chemical modification”
LPCAT4“down-regulates quantity”1-O-acyl-sn-glycero-3-phosphocholine“chemical modification”
LPCAT4“down-regulates quantity”acyl-CoA(4-)“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance61
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1779 predictions. Top by Δscore:

VariantEffectΔscore
15:34359587:A:ACdonor_gain1.0000
15:34359588:C:CCdonor_gain1.0000
15:34359588:CAG:Cdonor_gain1.0000
15:34359588:CAGA:Cdonor_gain1.0000
15:34359588:CAGAG:Cdonor_gain1.0000
15:34359615:G:Adonor_gain1.0000
15:34359741:AAGAG:Aacceptor_gain1.0000
15:34359742:AGAG:Aacceptor_gain1.0000
15:34359743:GAG:Gacceptor_gain1.0000
15:34359744:AG:Aacceptor_gain1.0000
15:34359745:GCTTG:Gacceptor_loss1.0000
15:34359746:C:CCacceptor_gain1.0000
15:34359747:T:Cacceptor_gain1.0000
15:34359747:T:TCacceptor_gain1.0000
15:34360105:CATTA:Cdonor_loss1.0000
15:34360106:ATTAC:Adonor_loss1.0000
15:34360107:TTACC:Tdonor_loss1.0000
15:34360108:TACC:Tdonor_loss1.0000
15:34360109:ACCT:Adonor_loss1.0000
15:34360110:CCTC:Cdonor_loss1.0000
15:34360215:G:Cacceptor_gain1.0000
15:34361399:CCTG:Cdonor_gain1.0000
15:34361529:CAGC:Cacceptor_gain1.0000
15:34361544:T:Cacceptor_gain1.0000
15:34361544:T:TCacceptor_gain1.0000
15:34362571:A:ACdonor_gain1.0000
15:34362572:C:CAdonor_gain1.0000
15:34362572:CTGTG:Cdonor_gain1.0000
15:34362656:C:CCacceptor_gain1.0000
15:34364191:CA:Cdonor_loss1.0000

AlphaMissense

3344 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
15:34363712:G:CF220L1.000
15:34363712:G:TF220L1.000
15:34363714:A:GF220L1.000
15:34364202:A:GW195R1.000
15:34364202:A:TW195R1.000
15:34365044:A:GS148P1.000
15:34365085:T:AD134V1.000
15:34362591:A:TV289D0.999
15:34362654:A:GF268S0.999
15:34362811:A:GS258P0.999
15:34362813:G:TA257D0.999
15:34363444:A:GW242R0.999
15:34363444:A:TW242R0.999
15:34363686:A:TV229D0.999
15:34363689:G:TP228H0.999
15:34363713:A:GF220S0.999
15:34363714:A:TF220I0.999
15:34364017:T:AK216N0.999
15:34364017:T:GK216N0.999
15:34364020:G:CF215L0.999
15:34364020:G:TF215L0.999
15:34364021:A:GF215S0.999
15:34364022:A:GF215L0.999
15:34364055:C:AG204C0.999
15:34364055:C:GG204R0.999
15:34364060:G:TP202H0.999
15:34364062:A:CF201L0.999
15:34364062:A:TF201L0.999
15:34364064:A:GF201L0.999
15:34364200:C:AW195C0.999

dbSNP variants (sampled 300 via entrez): RS1000223760 (15:34362937 G>A,T), RS1000306184 (15:34366644 G>A), RS1000799747 (15:34364800 A>C,G), RS1000888359 (15:34360281 C>T), RS1000923738 (15:34358192 C>T), RS1001208167 (15:34358642 ATC>A), RS1001217642 (15:34365477 C>A,G,T), RS1001639622 (15:34358965 GT>G,GTT), RS1001862568 (15:34364866 T>C), RS1002162686 (15:34358808 T>C), RS1002215330 (15:34364136 G>T), RS1002246388 (15:34364566 A>G), RS1002449711 (15:34358470 G>A,C), RS1002661053 (15:34362030 T>C), RS1003248191 (15:34362708 C>T)

Disease associations

OMIM: gene MIM:612039 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST008595_90Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)8.000000e-10

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004337intelligence
EFO:0004784self reported educational attainment

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, decreases expression, affects expression5
sodium arsenitedecreases expression, increases abundance, increases expression3
entinostatdecreases expression, affects cotreatment2
aristolochic acid Idecreases expression1
triphenyl phosphateaffects expression1
potassium chromate(VI)affects cotreatment, decreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment, decreases expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
avobenzoneincreases expression1
di-n-butylphosphoric acidaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrinedecreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1
Resveratroldecreases expression, affects cotreatment1
Sunitinibdecreases expression1
Vorinostatdecreases expression1
Acetaminophendecreases expression1
Arsenicdecreases expression, increases abundance1
Atrazineincreases expression1
Carbamazepineaffects expression1
Catechinaffects cotreatment, increases expression1
Cisplatinaffects cotreatment, increases expression1
Doxorubicindecreases expression1
Hydralazineaffects cotreatment, increases expression1
Ivermectindecreases expression1
Lipopolysaccharidesaffects response to substance, increases expression, affects cotreatment, decreases expression1
Malathionincreases expression1
Methyl Methanesulfonatedecreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.