AGPAT4

Summary

AGPAT4 (1-acylglycerol-3-phosphate O-acyltransferase 4, HGNC:20885) is a protein-coding gene on chromosome 6q26, encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase delta (Q9NRZ5). Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis.

Source: NCBI Gene 56895 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_020133

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20885
Approved symbol	AGPAT4
Name	1-acylglycerol-3-phosphate O-acyltransferase 4
Location	6q26
Locus type	gene with protein product
Status	Approved
Aliases	LPAAT-delta, dJ473J16.2, LPAAT4, LPLAT4
Ensembl gene	ENSG00000026652
Ensembl biotype	protein_coding
OMIM	614795
Entrez	56895

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000320285, ENST00000366905, ENST00000366911, ENST00000436279, ENST00000437165, ENST00000624499, ENST00000860937, ENST00000860938, ENST00000928274, ENST00000928275, ENST00000950649

RefSeq mRNA: 1 — MANE Select: NM_020133 NM_020133

CCDS: CCDS5280

Canonical transcript exons

ENST00000320285 — 9 exons

Exon	Start	End
ENSE00001260918	161129967	161136634
ENSE00001510855	161273938	161274061
ENSE00002309164	161232036	161232302
ENSE00003469870	161149187	161149289
ENSE00003487542	161153346	161153499
ENSE00003578831	161166248	161166417
ENSE00003619291	161146524	161146599
ENSE00003647711	161139422	161139620
ENSE00003656791	161154149	161154310

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 96.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.2486 / max 705.5640, expressed in 1688 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76566	10.8033	1631
76565	7.4972	1477
76564	5.0703	1093
76567	0.8022	385
76568	0.0756	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	96.74	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.19	gold quality
spinal cord	UBERON:0002240	94.08	gold quality
medial globus pallidus	UBERON:0002477	93.59	gold quality
cartilage tissue	UBERON:0002418	93.24	gold quality
corpus callosum	UBERON:0002336	92.87	gold quality
endothelial cell	CL:0000115	92.81	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.40	gold quality
middle temporal gyrus	UBERON:0002771	92.04	gold quality
globus pallidus	UBERON:0001875	91.34	gold quality
inferior vagus X ganglion	UBERON:0005363	89.77	gold quality
primary visual cortex	UBERON:0002436	88.28	gold quality
tibia	UBERON:0000979	87.05	gold quality
Ammon’s horn	UBERON:0001954	86.44	gold quality
cortical plate	UBERON:0005343	86.21	gold quality
postcentral gyrus	UBERON:0002581	85.63	gold quality
ganglionic eminence	UBERON:0004023	84.96	gold quality
occipital lobe	UBERON:0002021	84.85	gold quality
subthalamic nucleus	UBERON:0001906	84.83	gold quality
substantia nigra	UBERON:0002038	84.50	gold quality
midbrain	UBERON:0001891	84.14	gold quality
superior frontal gyrus	UBERON:0002661	84.13	gold quality
parietal lobe	UBERON:0001872	84.02	gold quality
right frontal lobe	UBERON:0002810	83.97	gold quality
buccal mucosa cell	CL:0002336	83.70	silver quality
cerebral cortex	UBERON:0000956	83.53	gold quality
prefrontal cortex	UBERON:0000451	83.17	gold quality
neocortex	UBERON:0001950	83.17	gold quality
granulocyte	CL:0000094	83.15	gold quality
frontal cortex	UBERON:0001870	83.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	908.48
E-ANND-3	yes	4.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

137 targeting AGPAT4, 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-12118	100.00	65.88	1270
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-124-3P	99.89	73.74	3043

Literature-anchored findings (GeneRIF, showing 1)

• The Agpat4/LPA axis in colorectal cancer cells regulates antitumor responses via p38/p65 signaling in macrophages. (PMID:32296017)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	agpat4	ENSDARG00000069044
mus_musculus	Agpat4	ENSMUSG00000023827
rattus_norvegicus	Agpat4	ENSRNOG00000017731
drosophila_melanogaster	Agpat4	FBGN0036622
drosophila_melanogaster	Agpat3	FBGN0036623

Paralogs (4): LPGAT1 (ENSG00000123684), AGPAT5 (ENSG00000155189), AGPAT3 (ENSG00000160216), LCLAT1 (ENSG00000172954)

Protein

Protein identifiers

1-acyl-sn-glycerol-3-phosphate acyltransferase delta — Q9NRZ5 (reviewed: Q9NRZ5)

Alternative names: 1-acylglycerol-3-phosphate O-acyltransferase 4, Lysophosphatidic acid acyltransferase delta

All UniProt accessions (5): Q9NRZ5, G3XAF1, H0Y5R3, Q5TEE8, Q6AI25

UniProt curated annotations — full annotation on UniProt →

Function. Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Exhibits high acyl-CoA specificity for polyunsaturated fatty acyl-CoA, especially docosahexaenoyl-CoA (22:6-CoA, DHA-CoA).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed with highest levels in skeletal muscle, followed by heart, liver, prostate and thymus.

Domain organisation. The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.

Pathway. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NRZ5-1	1	yes
Q9NRZ5-2	2

RefSeq proteins (1): NP_064518* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002123	Plipid/glycerol_acylTrfase	Domain
IPR032098	Acyltransf_C	Domain

Pfam: PF01553, PF16076

Enzyme classification (BRENDA):

• 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)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
1-ACYL-SN-GLYCEROL 3-PHOSPHATE	0.0053–0.125	8
OLEOYL-COA	0.0027–0.0215	8
PALMITOYL-COA	0.0014–0.012	8
1-OLEOYL-SN-GLYCEROL 3-PHOSPHATE	0.0048–0.018	5
1-PALMITOYL-SN-GLYCEROL 3-PHOSPHATE	0.003	1
DOCOSAHEXAENOYL-COA	0.0138	1
PAMITOLEOYL-COA	0.0368	1

Catalyzed reactions (Rhea), 5 shown:

• a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA (RHEA:19709)
• (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phosphate = 1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphate + CoA (RHEA:55300)
• 1-octadecanoyl-sn-glycero-3-phosphate + (9Z,12Z)-octadecadienoyl-CoA = 1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + CoA (RHEA:55304)
• 1-octadecanoyl-sn-glycero-3-phosphate + (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA = 1-octadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphate + CoA (RHEA:55308)
• (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z-octadecenoyl)-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphate + CoA (RHEA:55312)

UniProt features (8 total): transmembrane region 4, splice variant 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRZ5-F1	94.20	0.87

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1483166	Synthesis of PA

MSigDB gene sets: 229 (showing top): ATF_B, TGGTGCT_MIR29A_MIR29B_MIR29C, GCM_MAP4K4, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, CREBP1_Q2, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, RACCACAR_AML_Q6, GGGTGGRR_PAX4_03, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, TCGATGG_MIR213, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, IRF7_01, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN

GO Biological Process (5): phosphatidic acid biosynthetic process (GO:0006654), phospholipid biosynthetic process (GO:0008654), CDP-diacylglycerol biosynthetic process (GO:0016024), lipid metabolic process (GO:0006629), phospholipid metabolic process (GO:0006644)

GO Molecular Function (5): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), lysophosphatidic acid acyltransferase activity (GO:0042171)

GO Cellular Component (5): mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycerophospholipid biosynthetic process	2
cellular anatomical structure	2
phosphatidic acid metabolic process	1
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
CDP-diacylglycerol metabolic process	1
primary metabolic process	1
lipid metabolic process	1
organophosphate metabolic process	1
acylglycerol O-acyltransferase activity	1
lysophosphatidic acid acyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
lysophospholipid acyltransferase activity	1
mitochondrial membrane	1
organelle outer membrane	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1564 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGPAT4	AGPAT1	Q99943	751
AGPAT4	GPAT3	Q53EU6	709
AGPAT4	GPAM	Q9HCL2	676
AGPAT4	GPAT4	Q86UL3	670
AGPAT4	AGPAT2	O15120	667
AGPAT4	GPAT2	Q6NUI2	613
AGPAT4	LPCAT4	Q643R3	601
AGPAT4	LPIN3	Q9BQK8	576
AGPAT4	LPCAT2	Q7L5N7	537
AGPAT4	PLPP3	O14495	525
AGPAT4	DGAT2	Q96PD7	488
AGPAT4	MBOAT2	Q6ZWT7	483
AGPAT4	LPIN1	Q14693	477
AGPAT4	PI4KB	P78405	463
AGPAT4	MBOAT1	Q6ZNC8	463

IntAct

148 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
REL	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
AGPAT4	GPR101	psi-mi:“MI:0915”(physical association)	0.560
AGPAT4	SCN3B	psi-mi:“MI:0915”(physical association)	0.560
AGPAT4	AQP6	psi-mi:“MI:0915”(physical association)	0.560
AGPAT4	TMX2	psi-mi:“MI:0915”(physical association)	0.560
AGPAT4	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
MFF	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
RETREG3	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
LRRC25	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
FCGR2A	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
SLC35C2	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
GPR101	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
CREB3L1	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
LEPROTL1	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
AGPAT4	SLC7A8	psi-mi:“MI:0915”(physical association)	0.560
LEUTX	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
SPACA1	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560
AGPAT4	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
AQP12B	AGPAT4	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (101): AGPAT4 (Two-hybrid), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), SLC35C2 (Two-hybrid), AQP6 (Two-hybrid), SLC7A8 (Two-hybrid), LEPROTL1 (Two-hybrid), SPACA1 (Two-hybrid)

ESM2 similar proteins: A5A6S6, B8AT51, D3ZEH5, G5AY81, O00219, O08650, O35776, O57424, O57425, O57426, O57427, O97711, P11029, P70312, Q02563, Q0JAW2, Q13085, Q17QZ3, Q29397, Q2TBU2, Q4R4U1, Q4R4X3, Q4R581, Q5E9R2, Q5R4L9, Q5R5F8, Q5R757, Q5RA57, Q61647, Q6NYF1, Q6PC62, Q6X893, Q7L0J3, Q8CIF6, Q8NBJ9, Q8R418, Q8RU27, Q8VCW4, Q8VII6, Q8WWI5

Diamond homologs: P33333, Q3UN02, Q41745, Q4R581, Q5E9R2, Q5F3X0, Q5R757, Q5RA57, Q6IWY1, Q6NYV8, Q6UWP7, Q8K4X7, Q8L4Y2, Q8LG50, Q924S1, Q9D1E8, Q9D517, Q9LHN4, Q9NRZ5, Q9NRZ7, Q9NUQ2, Q9SYC8, Q9XFW4, Q9US20, O94361, Q20800, Q12185, A8J0J0, O15120, O25903, O35083, P44848, Q22267, Q2YQS9, Q42670, Q42868, Q42870, Q8K3K7, Q95JH0, Q95JH2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AGPAT4	up-regulates	“phosphatidic acid”	“chemical modification”
AGPAT4	“down-regulates quantity”	“1-acyl-sn-glycerol 3-phosphate(2-)”	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 108 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
R-HSA-425366	9	25.9×	8e-09
Amino acid transport across the plasma membrane	5	23.9×	1e-04
SLC-mediated transmembrane transport	10	9.4×	7e-06
Transport of small molecules	11	4.4×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	5	37.4×	5e-05
amino acid transport	9	29.9×	9e-09
intracellular zinc ion homeostasis	5	25.6×	2e-04
transport across blood-brain barrier	7	13.3×	2e-04
sodium ion transmembrane transport	6	13.0×	6e-04
adenylate cyclase-activating G protein-coupled receptor signaling pathway	6	7.2×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3067 predictions. Top by Δscore:

Variant	Effect	Δscore
6:161136532:T:TA	donor_gain	1.0000
6:161136533:C:CA	donor_gain	1.0000
6:161136635:C:CC	acceptor_gain	1.0000
6:161139417:CTCA:C	donor_loss	1.0000
6:161139418:TCA:T	donor_loss	1.0000
6:161139420:AC:A	donor_gain	1.0000
6:161139421:C:CG	donor_loss	1.0000
6:161139421:CC:C	donor_gain	1.0000
6:161139421:CCCA:C	donor_gain	1.0000
6:161149290:C:CC	acceptor_gain	1.0000
6:161154147:A:AC	donor_gain	1.0000
6:161154148:C:CC	donor_gain	1.0000
6:161154157:T:TA	donor_gain	1.0000
6:161166242:ACTT:A	donor_loss	1.0000
6:161166243:CTT:C	donor_loss	1.0000
6:161166244:TTAC:T	donor_loss	1.0000
6:161166245:T:TG	donor_loss	1.0000
6:161166246:A:AC	donor_gain	1.0000
6:161166246:AC:A	donor_gain	1.0000
6:161166246:ACC:A	donor_gain	1.0000
6:161166247:C:A	donor_loss	1.0000
6:161166247:C:CC	donor_gain	1.0000
6:161166247:CC:C	donor_gain	1.0000
6:161166247:CCC:C	donor_gain	1.0000
6:161166413:CAGCT:C	acceptor_gain	1.0000
6:161166416:CT:C	acceptor_gain	1.0000
6:161166418:C:CC	acceptor_gain	1.0000
6:161232034:A:AC	donor_gain	1.0000
6:161232035:C:CC	donor_gain	1.0000
6:161232035:CGG:C	donor_gain	1.0000

AlphaMissense

2478 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:161154290:C:A	K123N	1.000
6:161154290:C:G	K123N	1.000
6:161153393:G:T	P206Q	0.999
6:161153399:A:G	L204P	0.999
6:161153446:G:C	S188R	0.999
6:161153446:G:T	S188R	0.999
6:161153448:T:G	S188R	0.999
6:161153481:C:A	G177C	0.999
6:161153481:C:G	G177R	0.999
6:161153483:T:A	E176V	0.999
6:161153485:A:C	C175W	0.999
6:161153486:C:T	C175Y	0.999
6:161154208:C:G	D151H	0.999
6:161154215:C:A	W148C	0.999
6:161154215:C:G	W148C	0.999
6:161154253:A:G	W136R	0.999
6:161154253:A:T	W136R	0.999
6:161154259:A:G	W134R	0.999
6:161154259:A:T	W134R	0.999
6:161154261:C:A	G133V	0.999
6:161154261:C:T	G133D	0.999
6:161154262:C:G	G133R	0.999
6:161166280:A:G	W106R	0.999
6:161166280:A:T	W106R	0.999
6:161166290:A:C	F102L	0.999
6:161166290:A:T	F102L	0.999
6:161166291:A:G	F102S	0.999
6:161166292:A:G	F102L	0.999
6:161166294:T:A	D101V	0.999
6:161166294:T:C	D101G	0.999

dbSNP variants (sampled 300 via entrez): RS1000011781 (6:161250843 A>G), RS1000035192 (6:161162074 A>G), RS1000038096 (6:161236181 T>A), RS1000038327 (6:161130474 C>T), RS1000076288 (6:161256724 C>G), RS1000083935 (6:161196814 G>A,C), RS1000096967 (6:161156741 C>A), RS1000109875 (6:161236459 C>T), RS1000123268 (6:161209111 C>G), RS1000161089 (6:161183069 C>T), RS1000173965 (6:161144501 C>T), RS1000174846 (6:161206882 C>A,G,T), RS1000193377 (6:161223680 C>T), RS1000208153 (6:161151186 C>A,G), RS1000221116 (6:161185420 A>G)

Disease associations

OMIM: gene MIM:614795 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002202_5	Anxiety in major depressive disorder	8.000000e-06
GCST002746_15	Lipoprotein (a) - cholesterol levels	3.000000e-08
GCST003127_17	Lipoprotein (a) levels	3.000000e-13
GCST004524_2	Energy expenditure (24h)	1.000000e-06
GCST004524_7	Energy expenditure (24h)	6.000000e-06
GCST004706_1	Fear of pain	1.000000e-06
GCST006627_18	Diastolic blood pressure	3.000000e-10
GCST009391_1906	Metabolite levels	4.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006925	lipoprotein A measurement
EFO:0008330	fear of pain measurement
EFO:0006336	diastolic blood pressure
EFO:0010463	asymmetric dimethylarginine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
sodium arsenite	increases expression, affects methylation, decreases expression	3
bisphenol A	affects methylation, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
methylmercuric chloride	decreases expression	1
potassium chromate(VI)	decreases expression	1
cupric chloride	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
Am 580	increases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	affects cotreatment, increases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Rosiglitazone	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression, affects cotreatment	1
Progesterone	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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