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Atlas / Gene / MBOAT2

MBOAT2

gene
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Also known as FLJ14415FLJ90298LPLAT13

Summary

MBOAT2 (membrane bound glycerophospholipid O-acyltransferase 2, HGNC:25193) is a protein-coding gene on chromosome 2p25.1, encoding Membrane-bound glycerophospholipid O-acyltransferase 2 (Q6ZWT7). Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophospholipid leading to the production of a phospholipid and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.

Enables 1-acylglycerophosphocholine O-acyltransferase activity; 1-acylglycerophosphoethanolamine O-acyltransferase activity; and 1-acylglycerophosphoserine O-acyltransferase activity. Involved in phosphatidylcholine acyl-chain remodeling; phosphatidylethanolamine acyl-chain remodeling; and phosphatidylserine acyl-chain remodeling. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane.

Source: NCBI Gene 129642 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 73 total
  • MANE Select transcript: NM_138799

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25193
Approved symbolMBOAT2
Namemembrane bound glycerophospholipid O-acyltransferase 2
Location2p25.1
Locus typegene with protein product
StatusApproved
AliasesFLJ14415, FLJ90298, LPLAT13
Ensembl geneENSG00000143797
Ensembl biotypeprotein_coding
OMIM611949
Entrez129642

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000305997, ENST00000460786, ENST00000462696, ENST00000471753, ENST00000473432, ENST00000474341, ENST00000477073, ENST00000486315, ENST00000486484, ENST00000494760, ENST00000910715, ENST00000910716, ENST00000910717, ENST00000961702, ENST00000961703

RefSeq mRNA: 4 — MANE Select: NM_138799 NM_001321265, NM_001321266, NM_001321267, NM_138799

CCDS: CCDS1660

Canonical transcript exons

ENST00000305997 — 13 exons

ExonStartEnd
ENSE0000107055388526908858904
ENSE0000182248890035409003684
ENSE0000351440388731088873300
ENSE0000356028188825118882565
ENSE0000357928688625908862722
ENSE0000360717588641708864234
ENSE0000362427789584978958642
ENSE0000365739588684468868549
ENSE0000366035689086218908716
ENSE0000367705289431878943264
ENSE0000368186188770308877213
ENSE0000368576488606138860764
ENSE0000369192188880188888073

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 96.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.6253 / max 262.6372, expressed in 1648 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
2680716.62531648

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
corpus callosumUBERON:000233696.44gold quality
esophagus mucosaUBERON:000246996.25gold quality
gingivaUBERON:000182895.81gold quality
gingival epitheliumUBERON:000194995.70gold quality
oral cavityUBERON:000016795.69gold quality
esophagus squamous epitheliumUBERON:000692095.60gold quality
lower esophagus mucosaUBERON:003583495.48gold quality
cortical plateUBERON:000534395.08gold quality
ganglionic eminenceUBERON:000402394.23gold quality
tibial nerveUBERON:000132394.12gold quality
skin of legUBERON:000151194.08gold quality
squamous epitheliumUBERON:000691494.08gold quality
trabecular bone tissueUBERON:000248393.89gold quality
C1 segment of cervical spinal cordUBERON:000646993.61gold quality
pharyngeal mucosaUBERON:000035593.59gold quality
skin of abdomenUBERON:000141693.56gold quality
palpebral conjunctivaUBERON:000181293.45gold quality
ventricular zoneUBERON:000305393.44gold quality
CA1 field of hippocampusUBERON:000388193.34gold quality
bone marrowUBERON:000237193.25gold quality
spinal cordUBERON:000224093.18gold quality
zone of skinUBERON:000001493.11gold quality
epithelium of esophagusUBERON:000197693.09gold quality
cranial nerve IIUBERON:000094192.79gold quality
bone elementUBERON:000147492.76gold quality
tongue squamous epitheliumUBERON:000691992.63gold quality
vaginaUBERON:000099692.57gold quality
sural nerveUBERON:001548892.52gold quality
upper leg skinUBERON:000426292.33gold quality
nasal cavity epitheliumUBERON:000538492.07gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-GEOD-100618yes709.91
E-CURD-119yes17.29
E-MTAB-4850no107.21
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

248 targeting MBOAT2, 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-8485100.0077.574731
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-4262100.0073.263931
HSA-MIR-3163100.0077.238605
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-3646100.0073.565283
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-656-3P100.0072.152788
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-428299.9975.366408
HSA-MIR-520G-5P99.9966.76658
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-186-5P99.9970.833707
HSA-MIR-548N99.9871.944170
HSA-MIR-569699.9872.364487

Literature-anchored findings (GeneRIF, showing 2)

  • Circ-MBOAT2 knockdown represses tumor progression and glutamine catabolism by miR-433-3p/GOT1 axis in pancreatic cancer. (PMID:33832516)
  • CircRNA MBOAT2 promotes intrahepatic cholangiocarcinoma progression and lipid metabolism reprogramming by stabilizing PTBP1 to facilitate FASN mRNA cytoplasmic export. (PMID:36635270)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriomboat2aENSDARG00000031845
danio_reriomboat2bENSDARG00000042551
mus_musculusMboat2ENSMUSG00000020646
rattus_norvegicusMboat2ENSRNOG00000061050
drosophila_melanogasteroysFBGN0033476
caenorhabditis_elegansWBGENE00007446
caenorhabditis_elegansWBGENE00016934

Paralogs (5): PORCN (ENSG00000102312), LPCAT3 (ENSG00000111684), MBOAT7 (ENSG00000125505), MBOAT1 (ENSG00000172197), MBOAT4 (ENSG00000177669)

Protein

Protein identifiers

Membrane-bound glycerophospholipid O-acyltransferase 2 — Q6ZWT7 (reviewed: Q6ZWT7)

Alternative names: 1-acylglycerophosphate O-acyltransferase MBOAT2, 1-acylglycerophosphocholine O-acyltransferase MBOAT2, 1-acylglycerophosphoethanolamine MBOAT2 O-acyltransferase, Lysophosphatidic acid acyltransferase, Lysophosphatidylcholine acyltransferase, Lysophosphatidylcholine acyltransferase 4, Lysophosphatidylethanolamine acyltransferase, Lysophospholipid acyltransferase 2, Membrane-bound O-acyltransferase domain-containing protein 2

All UniProt accessions (4): Q6ZWT7, C9J2H7, F8WDJ6, H7C5D1

UniProt curated annotations — full annotation on UniProt →

Function. Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophospholipid leading to the production of a phospholipid and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Catalyzes preferentially the acylation of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) and lysophosphatidic acid (LPA) and to a lesser extend lysophosphatidylcholine (LPC) and lysophosphatidylserine (LPS). Prefers oleoyl-CoA as the acyl donor. May be involved in chondrocyte differentiation.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in neutrophils.

Activity regulation. Partially inhibited by thimerosal.

Pathway. Lipid metabolism; phospholipid metabolism.

Similarity. Belongs to the membrane-bound acyltransferase family.

RefSeq proteins (4): NP_001308194, NP_001308195, NP_001308196, NP_620154* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004299MBOAT_famFamily
IPR049941LPLAT_7/PORCN-likeFamily

Pfam: PF03062

Enzyme classification (BRENDA):

  • EC 2.3.1.23 — 1-acylglycerophosphocholine O-acyltransferase (BRENDA: 25 organisms, 283 substrates, 101 inhibitors, 64 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

18 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
ARACHIDONOYL-COA0.0032–0.71566
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
1-ACYL-SN-GLYCERO-3-PHOSPHOINOSITOL0.01381
1-ALKENYL-SN-GLYCERO-3-PHOSPHOCHOLINE0.0921
ALPHA-LINOLENOYL-COA0.2141
ARACHIDONYL-COA0.00051

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-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA (RHEA:19709)
  • a 1-acyl-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:32995)
  • 1-hexadecanoyl-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA (RHEA:33187)
  • 1-hexadecanoyl-sn-glycero-3-phosphocholine + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + CoA (RHEA:35991)
  • (9Z,12Z)-octadecadienoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phosphocholine = 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + CoA (RHEA:35995)
  • 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + CoA (RHEA:36015)
  • (9Z)-hexadecenoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phosphocholine = 1-hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phosphocholine + CoA (RHEA:37207)
  • 1-hexadecanoyl-sn-glycero-3-phosphate + (9Z)-hexadecenoyl-CoA = 1-hexadecanoyl-2-[(9Z)-hexadec-9-enoyl]-sn-glycero-3-phosphate + CoA (RHEA:37223)
  • 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + hexadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-hexadecanoyl-sn-glycero-3-phosphoserine + CoA (RHEA:37415)
  • 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + (9Z)-hexadecenoyl-CoA = 1-hexadecanoyl-2-(9Z)-hexadecenoyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37419)
  • 1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37499)

UniProt features (15 total): transmembrane region 9, active site 2, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6ZWT7-F186.160.76

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 (2): 342; 373

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

IDPathway
R-HSA-1482788Acyl chain remodelling of PC
R-HSA-1482839Acyl chain remodelling of PE
R-HSA-1430728Metabolism
R-HSA-1483206Glycerophospholipid biosynthesis
R-HSA-1483257Phospholipid metabolism
R-HSA-556833Metabolism of lipids

MSigDB gene sets: 225 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_PHOSPHATIDYLSERINE_ACYL_CHAIN_REMODELING, GOBP_LIPID_MODIFICATION, chr2p25, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, AGGCACT_MIR5153P

GO Biological Process (8): phospholipid biosynthetic process (GO:0008654), lipid modification (GO:0030258), regulation of chondrocyte differentiation (GO:0032330), phosphatidylserine acyl-chain remodeling (GO:0036150), phosphatidylcholine acyl-chain remodeling (GO:0036151), phosphatidylethanolamine acyl-chain remodeling (GO:0036152), lipid metabolic process (GO:0006629), phospholipid metabolic process (GO:0006644)

GO Molecular Function (7): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), acyltransferase activity (GO:0016746), 2-acylglycerol-3-phosphate O-acyltransferase activity (GO:0047144), 1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184), 1-acylglycerophosphoethanolamine O-acyltransferase activity (GO:0106262), 1-acylglycerophosphoserine O-acyltransferase activity (GO:0106263), transferase activity (GO:0016740)

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

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Glycerophospholipid biosynthesis2
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 groups3
lipid metabolic process2
phosphatidylcholine metabolic process2
lysophosphatidic acid acyltransferase activity2
phospholipid metabolic process1
lipid biosynthetic process1
organophosphate biosynthetic process1
chondrocyte differentiation1
regulation of cell differentiation1
regulation of cartilage development1
phosphatidylserine metabolic process1
primary metabolic process1
organophosphate metabolic process1
acylglycerol O-acyltransferase activity1
transferase activity1
catalytic activity1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cellular anatomical structure1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1254 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MBOAT2GPAT4Q86UL3862
MBOAT2DGAT1O75907717
MBOAT2SH3GLB2Q9NR46648
MBOAT2SH3GLB1Q9Y371648
MBOAT2AGPAT2O15120646
MBOAT2CHPT1Q8WUD6644
MBOAT2ZNF516Q92618636
MBOAT2LPCAT4Q643R3630
MBOAT2PLPP2O43688612
MBOAT2TAMM41Q96BW9600
MBOAT2SYNJ1O43426599
MBOAT2NRIP1P48552599
MBOAT2LPCAT2Q7L5N7591
MBOAT2AGPAT1Q99943572
MBOAT2ACSL3O95573565

IntAct

12 interactions, top by confidence:

ABTypeScore
LPAR1TMEM223psi-mi:“MI:0914”(association)0.530
MBOAT2ADRB2psi-mi:“MI:0915”(physical association)0.370
CCDC47ESYT2psi-mi:“MI:0914”(association)0.350
SLC22A2FADS1psi-mi:“MI:0914”(association)0.350
LAMP5ABHD2psi-mi:“MI:0914”(association)0.350
RAMP3TMEM223psi-mi:“MI:0914”(association)0.350
MFSD10NDUFS8psi-mi:“MI:0914”(association)0.350
MFSD5ILVBLpsi-mi:“MI:0914”(association)0.350
SLC9A6GOLIM4psi-mi:“MI:0914”(association)0.350
TCTN2TMEM120Bpsi-mi:“MI:2364”(proximity)0.270
TCTN3TMEM120Bpsi-mi:“MI:2364”(proximity)0.270

BioGRID (38): MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Affinity Capture-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Two-hybrid), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS), MBOAT2 (Proximity Label-MS)

ESM2 similar proteins: A0A0P0WY03, A0A161IUT7, A7T1N0, A8WXS4, A8WZ09, G5ECD6, G5ED45, I1MSF2, K7LC65, O04940, O42579, O49639, O59802, O94673, P25628, P53629, P84285, Q08929, Q09758, Q0JJZ6, Q10269, Q19468, Q1PE48, Q22329, Q28GF5, Q3T1J2, Q4V7N7, Q55BH9, Q5GKZ7, Q5I396, Q5ZKL6, Q61086, Q6CK18, Q6ZNC8, Q6ZWT7, Q7Q5R9, Q7TSN4, Q7Z139, Q7Z7B1, Q876L3

Diamond homologs: O42916, Q08548, Q3T1J2, Q5ZKL6, Q6NN55, Q6ZNC8, Q6ZWT7, Q8BH98, Q8R3I2, Q91V01

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance46
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3565 predictions. Top by Δscore:

VariantEffectΔscore
2:8858666:AGAG:Adonor_gain1.0000
2:8868440:ACTC:Adonor_loss1.0000
2:8868441:CTCA:Cdonor_loss1.0000
2:8868442:TCACC:Tdonor_loss1.0000
2:8868443:CACC:Cdonor_loss1.0000
2:8868444:A:AGdonor_loss1.0000
2:8868445:C:CAdonor_loss1.0000
2:8868445:CCT:Cdonor_gain1.0000
2:8868547:CAG:Cacceptor_gain1.0000
2:8868550:C:CCacceptor_gain1.0000
2:8868552:A:Cacceptor_gain1.0000
2:8877028:A:ACdonor_gain1.0000
2:8877029:C:CCdonor_gain1.0000
2:8888074:C:CCacceptor_gain1.0000
2:8895657:A:Cdonor_gain1.0000
2:8895697:T:TAdonor_gain1.0000
2:8908619:AC:Adonor_gain1.0000
2:8908620:CC:Cdonor_gain1.0000
2:8908712:AGTAA:Aacceptor_gain1.0000
2:8908713:GTAA:Gacceptor_gain1.0000
2:8908714:TAA:Tacceptor_gain1.0000
2:8908715:AA:Aacceptor_gain1.0000
2:8908715:AAC:Aacceptor_loss1.0000
2:8908716:AC:Aacceptor_loss1.0000
2:8908717:C:CCacceptor_gain1.0000
2:8943183:TTA:Tdonor_loss1.0000
2:8943184:TAC:Tdonor_loss1.0000
2:8943185:A:ACdonor_gain1.0000
2:8943185:AC:Adonor_loss1.0000
2:8943186:C:CGdonor_gain1.0000

AlphaMissense

3403 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:8862654:C:TG374E1.000
2:8862661:A:GW372R1.000
2:8862661:A:TW372R1.000
2:8873117:A:GW292R1.000
2:8873117:A:TW292R1.000
2:8860651:A:CF433L0.999
2:8860651:A:TF433L0.999
2:8860653:A:GF433L0.999
2:8862626:A:CF383L0.999
2:8862626:A:TF383L0.999
2:8862628:A:GF383L0.999
2:8862654:C:AG374V0.999
2:8862655:C:AG374W0.999
2:8862655:C:GG374R0.999
2:8862655:C:TG374R0.999
2:8862656:G:CH373Q0.999
2:8862656:G:TH373Q0.999
2:8862658:G:CH373D0.999
2:8862659:C:AW372C0.999
2:8862659:C:GW372C0.999
2:8862666:G:TA370D0.999
2:8864180:A:GW348R0.999
2:8864180:A:TW348R0.999
2:8864196:A:CN342K0.999
2:8864196:A:TN342K0.999
2:8864199:C:AW341C0.999
2:8864199:C:GW341C0.999
2:8864201:A:GW341R0.999
2:8864201:A:TW341R0.999
2:8873115:C:AW292C0.999

dbSNP variants (sampled 300 via entrez): RS1000007777 (2:8963516 C>A,T), RS1000012202 (2:8973422 GC>G), RS1000023646 (2:8937513 G>C), RS1000030721 (2:8932873 C>T), RS1000062908 (2:8861093 CA>C,CAA,CAAA,CAAAAAAA), RS1000068878 (2:8896113 C>A,T), RS1000074274 (2:8861387 G>A), RS1000081917 (2:8988131 A>G), RS1000100274 (2:8941263 A>G), RS1000114615 (2:8959960 A>G), RS1000115984 (2:8881709 T>G), RS1000131268 (2:8901709 G>C), RS1000136734 (2:8943423 A>G), RS1000152685 (2:8941607 T>C), RS1000167158 (2:8960259 T>G)

Disease associations

OMIM: gene MIM:611949 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST004749_97Lung cancer in ever smokers8.000000e-06
GCST004860_70Alcoholic chronic pancreatitis7.000000e-06
GCST007096_20Pulse pressure7.000000e-09
GCST007097_99Pulse pressure3.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0005763pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, increases expression2
Aflatoxin B1increases methylation, decreases methylation2
aristolochic acid Idecreases expression1
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
bisphenol Aaffects cotreatment, decreases methylation1
methylparabenincreases expression1
mono-(2-ethylhexyl)phthalatedecreases expression1
afimoxifenedecreases expression, decreases reaction1
sodium arseniteincreases expression1
hydroquinoneincreases expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic aciddecreases expression1
abrinedecreases expression1
Sunitinibincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Benzo(a)pyrenedecreases methylation1
Diethylstilbestrolincreases expression1
Doxorubicindecreases expression1
Estradiolaffects cotreatment, increases expression1
Estrogensdecreases expression, decreases reaction1
Nickeldecreases expression1
Dihydrotestosteroneincreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoindecreases expression1
Isotretinoindecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcoholic pancreatitis

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot