MOAP1

Summary

MOAP1 (modulator of apoptosis 1, HGNC:16658) is a protein-coding gene on chromosome 14q32.12, encoding Modulator of apoptosis 1 (Q96BY2). Retrotransposon-derived protein that forms virion-like capsids.

The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis.

Source: NCBI Gene 64112 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_022151

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16658
Approved symbol	MOAP1
Name	modulator of apoptosis 1
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Aliases	MAP-1, PNMA4
Ensembl gene	ENSG00000165943
Ensembl biotype	protein_coding
OMIM	609485
Entrez	64112

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000298894, ENST00000556883, ENST00000865602, ENST00000865603, ENST00000865604

RefSeq mRNA: 1 — MANE Select: NM_022151 NM_022151

CCDS: CCDS9908

Canonical transcript exons

ENST00000298894 — 3 exons

Exon	Start	End
ENSE00001098312	93184559	93184713
ENSE00001243116	93184810	93184897
ENSE00002460749	93182199	93184362

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 98.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.1414 / max 574.1446, expressed in 1791 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144630	18.6763	1790
144631	0.3052	151
144629	0.1600	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
superior frontal gyrus	UBERON:0002661	98.56	gold quality
prefrontal cortex	UBERON:0000451	97.98	gold quality
frontal cortex	UBERON:0001870	97.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.56	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.55	gold quality
primary visual cortex	UBERON:0002436	97.51	gold quality
right frontal lobe	UBERON:0002810	97.29	gold quality
cerebral cortex	UBERON:0000956	97.00	gold quality
hypothalamus	UBERON:0001898	96.68	gold quality
anterior cingulate cortex	UBERON:0009835	96.52	gold quality
telencephalon	UBERON:0001893	96.25	gold quality
cerebellum	UBERON:0002037	96.09	gold quality
cerebellar cortex	UBERON:0002129	96.09	gold quality
cerebellar hemisphere	UBERON:0002245	96.06	gold quality
nucleus accumbens	UBERON:0001882	95.85	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.82	gold quality
brain	UBERON:0000955	95.78	gold quality
cortical plate	UBERON:0005343	95.34	gold quality
putamen	UBERON:0001874	95.09	gold quality
caudate nucleus	UBERON:0001873	94.99	gold quality
Ammon’s horn	UBERON:0001954	94.73	gold quality
temporal lobe	UBERON:0001871	94.64	gold quality
amygdala	UBERON:0001876	94.60	gold quality
substantia nigra	UBERON:0002038	94.34	gold quality
heart left ventricle	UBERON:0002084	93.02	gold quality
mucosa of stomach	UBERON:0001199	92.99	gold quality
right atrium auricular region	UBERON:0006631	92.68	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.65	gold quality
lower esophagus	UBERON:0013473	92.60	gold quality
heart	UBERON:0000948	92.55	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting MOAP1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-425-5P	99.59	67.67	900
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-5587-5P	99.07	68.58	838
HSA-MIR-1228-3P	99.00	66.53	857
HSA-MIR-5001-3P	98.91	67.28	1394

Literature-anchored findings (GeneRIF, showing 20)

• RASSF1A and MAP-1 are important components between death receptors and the apoptotic machenery. (PMID:15949439)
• RASSF1A is a tumor suppressor that activates Bax via MOAP-1 (PMID:16344548)
• Inhibition of ubiquitin-mediated degradation of MOAP1 by apoptotic stimuli promotes BAX function in mitochondria. (PMID:17535899)
• The association of RASSF1A and MOAP-1 with death receptors involves an ordered recruitment to receptor complexes to promote cell death and inhibit tumor formation. (PMID:18474619)
• Data suggest that TRIM39 can promote apoptosis signalling through stabilization of MOAP-1. (PMID:19100260)
• Enforced miR-1228 expression can reduce MOAP1 expression and delay the progression of stress-induced cell apoptosis. (PMID:22434376)
• PB1-F2 protein of influenza A virus interacts with human MOAP-1 protein. (PMID:23236846)
• Paraneoplastic Ma antigen-like 1 is suggested as a novel potential clinically useful prognostic biomarker for patients with pancreatic ductal adenocarcinoma. (PMID:25251443)
• miR-25 promotes cell proliferation and inhibits apoptosis in non-small cell lung cancer cells by negatively regulating MOAP1 expression. (PMID:25998847)
• MOAP-1 is a tumor suppressor protein linked to the RASSF1A protein (PMID:26269600)
• PNMA2 functions as antagonist of MOAP-1 and PNMA1 through heterodimeric interaction (PMID:27003254)
• These findings reveal a role for MOAP-1 in Fas signaling in the liver by promoting MTCH2-mediated tBid recruitment to mitochondria. (PMID:27320914)
• UBR5 downregulates proapoptotic MOAP-1 and suggest that UBR5 can confer cisplatin resistance in ovarian cancer. (PMID:27721409)
• RACK1 associates with MOAP-1 via electrostatic associations similar to those observed between MOAP-1/RASSF1A and MOAP-1/TNF-R1. These events illustrate the complex nature of MOAP-1 regulation and characterizes the important role of the scaffolding protein, RACK1, in influencing MOAP-1 biology. (PMID:29470995)
• both in vitro and in vivo data presented strongly support the conclusion that MOAP-1 is an important apoptotic modulator in ischemic injury. These results may suggest that a reduction of MOAP-1 function in the brain could be a potential therapeutic approach in the treatment of acute stroke. (PMID:30132384)
• Results indicate that MOAP1 is a downstream target of miR-92a in colorectal cancer cells. (PMID:31064356)
• The BAX-binding protein MOAP1 associates with LC3 and promotes closure of the phagophore. (PMID:33783314)
• Structural evidence that MOAP1 and PEG10 are derived from retrovirus/retrotransposon Gag proteins. (PMID:34357660)
• Human Cytomegalovirus miR-UL70-3p Downregulates the H2O2-Induced Apoptosis by Targeting the Modulator of Apoptosis-1 (MOAP1). (PMID:35008453)
• Tripartite motif-containing 68-stabilized modulator of apoptosis-1 retards the proliferation and metastasis of lung cancer. (PMID:36724555)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Moap1	ENSMUSG00000096458
rattus_norvegicus		ENSRNOG00000072937
rattus_norvegicus	Moap1	ENSRNOG00000085134

Paralogs (13): ZCCHC18 (ENSG00000166707), CCDC8 (ENSG00000169515), ZCCHC12 (ENSG00000174460), PNMA1 (ENSG00000176903), PNMA8A (ENSG00000182013), PNMA3 (ENSG00000183837), PNMA5 (ENSG00000198883), PNMA8B (ENSG00000204851), PNMA6E (ENSG00000214897), PNMA6F (ENSG00000225110), PNMA6A (ENSG00000235961), PNMA2 (ENSG00000240694), PNMA8C (ENSG00000277531)

Protein

Protein identifiers

Modulator of apoptosis 1 — Q96BY2 (reviewed: Q96BY2)

Alternative names: Paraneoplastic antigen Ma4

All UniProt accessions (1): Q96BY2

UniProt curated annotations — full annotation on UniProt →

Function. Retrotransposon-derived protein that forms virion-like capsids. Acts as an effector of BAX during apoptosis: enriched at outer mitochondria membrane and associates with BAX upon induction of apoptosis, facilitating BAX-dependent mitochondrial outer membrane permeabilization and apoptosis. Required for death receptor-dependent apoptosis. When associated with RASSF1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Also promotes autophagy: promotes phagophore closure via association with ATG8 proteins. Acts as an inhibitor of the NFE2L2/NRF2 pathway via interaction with SQSTM1: interaction promotes dissociation of SQSTM1 inclusion bodies that sequester KEAP1, relieving inactivation of the BCR(KEAP1) complex.

Subunit / interactions. Homodimer. Under normal circumstances, held in an inactive conformation by an intramolecular interaction. Interacts with BAX. Binding to RASSF1 isoform A (RASSF1A) relieves this inhibitory interaction and allows further binding to BAX. Also binds to BCL2 and BCLX. Recruited to the TNFRSF1A and TNFRSF10A complexes in response to their respective cognate ligand, after internalization. Interacts with TRIM39. Interacts with RASSF6. Interacts with ATG8 proteins MAP1LC3A, MAP1LC3B and MAP1LC3C. Does not interact with ATG8 proteins GABARAPL1, GABARAPL2 and GABARAP. Interacts with SQSTM1; promoting dissociation of SQSTM1 inclusion bodies that sequester KEAP1.

Subcellular location. Cytoplasm. Cytosol. Mitochondrion outer membrane. Extracellular vesicle membrane.

Tissue specificity. Widely expressed, with high levels in heart and brain.

Post-translational modifications. Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1, this modification is inhibited by TRIM39.

Domain organisation. The protein is evolutionarily related to retrotransposon Gag proteins: it contains the capsid (CA)subdomain of gag. The BH3-like domain is required for association with BAX and for mediating apoptosis. The three BH domains (BH1, BH2, and BH3) of BAX are all required for mediating protein-protein interaction. The LIR motif (LC3-interacting region) is required for the interaction with the ATG8 family proteins MAP1LC3A, MAP1LC3B and MAP1LC3C.

Similarity. Belongs to the PNMA family.

RefSeq proteins (1): NP_071434* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026523	PNMA	Family
IPR048270	PNMA_C	Domain
IPR048271	PNMA_N	Domain

Pfam: PF14893, PF20846

UniProt features (22 total): mutagenesis site 9, helix 6, sequence conflict 3, region of interest 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7LGC	X-RAY DIFFRACTION	1.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96BY2-F1	78.34	0.24

Functional residue map

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

Mutagenesis-validated functional residues (9):

Position	Phenotype
162–165	does not affect interaction with atg8 proteins map1lc3a, map1lc3b and map1lc3c.
178–180	no effect on rassf1-binding; interacts with bax in the absence of rassf1.
202–205	loss of rassf1-binding; interacts with bax in the absence of rassf1.
49–52	abolished interaction with atg8 proteins map1lc3a, map1lc3b and map1lc3c.
89–92	does not affect interaction with atg8 proteins map1lc3a, map1lc3b and map1lc3c.
120–127	abrogates interaction with bax, resulting in a nonapoptotic protein.
120	weakened interaction with bax, resulting in a nonapoptotic protein.
125–127	abrogates interaction with bax, resulting in a nonapoptotic protein.
161–166	no effect on rassf1-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 231 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_AUTOPHAGY, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, GCM_PTPRD, GOBP_VACUOLE_ORGANIZATION, YANG_BREAST_CANCER_ESR1_LASER_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, AMIT_EGF_RESPONSE_60_HELA, GOBP_POSITIVE_REGULATION_OF_VACUOLE_ORGANIZATION, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, BROWNE_HCMV_INFECTION_16HR_UP

GO Biological Process (11): autophagy (GO:0006914), extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625), intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630), regulation of apoptotic process (GO:0042981), positive regulation of apoptotic process (GO:0043065), protein insertion into mitochondrial membrane (GO:0051204), positive regulation of release of cytochrome c from mitochondria (GO:0090200), apoptotic signaling pathway (GO:0097190), extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192), positive regulation of autophagosome assembly (GO:2000786), apoptotic process (GO:0006915)

GO Molecular Function (2): ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), cytosol (GO:0005829), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic process	3
cellular anatomical structure	3
extrinsic apoptotic signaling pathway	2
cytoplasm	2
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
DNA damage response	1
intrinsic apoptotic signaling pathway	1
regulation of programmed cell death	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
mitochondrial membrane organization	1
protein insertion into membrane	1
establishment of localization in cell	1
protein localization to mitochondrion	1
establishment of protein localization to organelle	1
release of cytochrome c from mitochondria	1
positive regulation of organelle organization	1
regulation of release of cytochrome c from mitochondria	1
signal transduction	1
signal transduction in absence of ligand	1
autophagosome assembly	1
positive regulation of macroautophagy	1
positive regulation of vacuole organization	1
positive regulation of organelle assembly	1
regulation of autophagosome assembly	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
ubiquitin-like protein ligase binding	1
binding	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1

Protein interactions and networks

STRING

700 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MOAP1	RASSF1	Q9NS23	911
MOAP1	RASSF6	Q6ZTQ3	866
MOAP1	RASSF5	Q8WWW0	811
MOAP1	TRIM39	Q9HCM9	729
MOAP1	EZH1	Q92800	641
MOAP1	RASSF7	Q02833	629
MOAP1	ENDOG	Q14249	616
MOAP1	CDC20	Q12834	609
MOAP1	YAP1	P46937	594
MOAP1	RASSF2	P50749	563
MOAP1	RASSF3	Q86WH2	514
MOAP1	BCL2L1	Q07817	512
MOAP1	LATS1	O95835	499
MOAP1	HOXB3	P14651	497
MOAP1	E4F1	Q66K89	467

IntAct

66 interactions, top by confidence:

A	B	Type	Score
PNMA1	ZCCHC12	psi-mi:“MI:0914”(association)	0.890
THOC1	MOAP1	psi-mi:“MI:0915”(physical association)	0.780
MOAP1	THOC1	psi-mi:“MI:0915”(physical association)	0.780
LATS1	MOAP1	psi-mi:“MI:0915”(physical association)	0.560
CAMK2D	MOAP1	psi-mi:“MI:0915”(physical association)	0.560
PNMA5	MOAP1	psi-mi:“MI:0915”(physical association)	0.560
MBIP	MOAP1	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	LATS1	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	PNMA5	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	MBIP	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	CAMK2D	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	MOAP1	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	RUSC1	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	MOAP1	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	ZMYND12	psi-mi:“MI:0915”(physical association)	0.560
MOAP1	PNMA8A	psi-mi:“MI:0914”(association)	0.530
	MOAP1	psi-mi:“MI:0915”(physical association)	0.520
MOAP1	PLEC	psi-mi:“MI:0915”(physical association)	0.400
MOAP1	yscO	psi-mi:“MI:0915”(physical association)	0.370
LATS1	MOAP1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (71): MOAP1 (Two-hybrid), MOAP1 (Two-hybrid), MOAP1 (Two-hybrid), MOAP1 (Two-hybrid), PNMA5 (Two-hybrid), MOAP1 (Two-hybrid), DPPA2 (Two-hybrid), MOAP1 (Two-hybrid), UBR5 (Affinity Capture-Western), UBR5 (Reconstituted Complex), MOAP1 (Affinity Capture-Western), MOAP1 (Biochemical Activity), DDB1 (Affinity Capture-Western), DYRK2 (Affinity Capture-Western), VPRBP (Affinity Capture-Western)

ESM2 similar proteins: A0A1B0GUJ8, A1Z651, A6QLK5, G1SRW8, P03330, P03334, P03336, P03340, P03359, P0CG32, P0CW24, P10262, P11227, P11269, P21414, P21416, P26805, P26806, P26807, P27460, P31622, P31623, P31625, P32594, Q08DL1, Q27ID9, Q2F7I9, Q2F7J0, Q2F7J2, Q2F7J3, Q2KIT6, Q5HZA3, Q5R486, Q6PEW1, Q7SVK7, Q8BHK0, Q8C1C8, Q8JZW8, Q8ND90, Q8VD24

Diamond homologs: A0A0J9YX94, A0A0J9YXQ4, A0A1B0GUJ8, A6QLK5, A7E321, D3YZV8, P0CW24, P62521, Q2KIT6, Q5DTT8, Q5R486, Q5R6R8, Q80VM8, Q86V59, Q8BHK0, Q8C1C8, Q8JZW8, Q8ND90, Q8VHZ4, Q95KI4, Q96BY2, Q96PV4, Q9ERH6, Q9GMU3, Q9H0W5, Q9UL41, Q9UL42, Q9ULN7, P0CG32, Q08DL1, Q5HZA3, Q6PEW1, Q8VD24, Q9CZA5

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
TRIM39	“up-regulates quantity by stabilization”	MOAP1	binding
APC-c	“down-regulates quantity by destabilization”	MOAP1	polyubiquitination
FZR1	“down-regulates quantity by destabilization”	MOAP1	binding
MOAP1	“up-regulates activity”	RASSF1	binding
UBR5	“down-regulates quantity by destabilization”	MOAP1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

143 predictions. Top by Δscore:

Variant	Effect	Δscore
14:93184359:CAGC:C	acceptor_gain	1.0000
14:93184361:GCC:G	acceptor_loss	1.0000
14:93184362:CCTG:C	acceptor_loss	1.0000
14:93184363:C:CC	acceptor_gain	1.0000
14:93184363:CTGC:C	acceptor_loss	1.0000
14:93184364:T:A	acceptor_loss	1.0000
14:93184554:CTCA:C	donor_loss	1.0000
14:93184555:TCA:T	donor_loss	1.0000
14:93184557:A:AC	donor_gain	1.0000
14:93184557:AC:A	donor_gain	1.0000
14:93184558:C:A	donor_loss	1.0000
14:93184558:C:CC	donor_gain	1.0000
14:93184558:CC:C	donor_gain	1.0000
14:93184558:CCGTG:C	donor_gain	1.0000
14:93184358:GCAGC:G	acceptor_gain	0.9900
14:93184359:CAGCC:C	acceptor_gain	0.9900
14:93184360:AGC:A	acceptor_gain	0.9900
14:93184361:GC:G	acceptor_gain	0.9900
14:93184362:CC:C	acceptor_gain	0.9900
14:93184558:CCGT:C	donor_gain	0.9900
14:93184710:CTGT:C	acceptor_gain	0.9900
14:93184805:CCCA:C	donor_loss	0.9900
14:93184807:CA:C	donor_loss	0.9900
14:93184808:AC:A	donor_loss	0.9900
14:93184809:CC:C	donor_loss	0.9900
14:93184558:CCG:C	donor_gain	0.9800
14:93184714:C:CC	acceptor_gain	0.9700
14:93184713:TC:T	acceptor_loss	0.9600
14:93184714:C:A	acceptor_loss	0.9600
14:93184293:C:CT	donor_gain	0.9500

AlphaMissense

2286 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:93183739:G:C	F168L	0.988
14:93183739:G:T	F168L	0.988
14:93183741:A:G	F168L	0.988
14:93184075:G:C	F56L	0.978
14:93184075:G:T	F56L	0.978
14:93184077:A:G	F56L	0.978
14:93183520:A:C	F241L	0.976
14:93183520:A:T	F241L	0.976
14:93183522:A:G	F241L	0.976
14:93183740:A:G	F168S	0.962
14:93183616:G:C	S209R	0.953
14:93183616:G:T	S209R	0.953
14:93183618:T:G	S209R	0.953
14:93183483:A:C	Y254D	0.950
14:93183626:A:G	L206S	0.946
14:93183466:C:A	Q259H	0.944
14:93183466:C:G	Q259H	0.944
14:93183533:A:T	L237H	0.940
14:93183416:A:G	L276S	0.939
14:93183691:C:A	W184C	0.938
14:93183691:C:G	W184C	0.938
14:93183740:A:C	F168C	0.937
14:93183441:A:C	Y268D	0.935
14:93183614:A:T	L210H	0.935
14:93183700:A:C	F181L	0.934
14:93183700:A:T	F181L	0.934
14:93183702:A:G	F181L	0.934
14:93183693:A:G	W184R	0.933
14:93183693:A:T	W184R	0.933
14:93184178:A:G	L22S	0.931

dbSNP variants (sampled 300 via entrez): RS1000116037 (14:93185023 G>C), RS1001434329 (14:93183483 A>G), RS1001484907 (14:93183908 C>T), RS1003831490 (14:93182389 C>T), RS1004348853 (14:93182494 A>C), RS1004788104 (14:93184405 C>T), RS1005566874 (14:93186082 G>C), RS1006076180 (14:93185743 T>G), RS1007087425 (14:93185077 C>T), RS1007491973 (14:93186304 G>A), RS1008486268 (14:93184468 C>G), RS1008582673 (14:93184721 G>A), RS1009135483 (14:93182384 T>C), RS1009207508 (14:93185342 C>T), RS1009950463 (14:93181701 G>A)

Disease associations

OMIM: gene MIM:609485 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001894_15	Endometriosis	3.000000e-06
GCST003986_15	Migraine	4.000000e-09
GCST005951_7	Body mass index	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
epigallocatechin gallate	decreases expression, affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Valproic Acid	affects expression, decreases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
beauvericin	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
nickel chloride	decreases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
resorcinol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
(+)-JQ1 compound	increases expression	1
Acetaminophen	decreases expression, affects cotreatment	1
Acetylcysteine	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dietary Carbohydrates	affects cotreatment, decreases expression	1
Doxorubicin	increases expression	1
Estradiol	decreases expression	1
Lead	affects expression	1
Menthol	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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