REEP3

Summary

REEP3 (receptor accessory protein 3, HGNC:23711) is a protein-coding gene on chromosome 10q21.3, encoding Receptor expression-enhancing protein 3 (Q6NUK4). Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis.

Predicted to enable microtubule binding activity. Involved in mitotic nuclear membrane reassembly. Predicted to be located in endoplasmic reticulum; membrane; and microtubule. Predicted to be active in cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network.

Source: NCBI Gene 221035 — RefSeq curated summary.

At a glance

• GWAS associations: 43
• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_001001330

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23711
Approved symbol	REEP3
Name	receptor accessory protein 3
Location	10q21.3
Locus type	gene with protein product
Status	Approved
Aliases	Yip2b
Ensembl gene	ENSG00000165476
Ensembl biotype	protein_coding
OMIM	609348
Entrez	221035

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000373758, ENST00000634963, ENST00000879582, ENST00000879583, ENST00000879584

RefSeq mRNA: 1 — MANE Select: NM_001001330 NM_001001330

CCDS: CCDS44411

Canonical transcript exons

ENST00000373758 — 8 exons

Exon	Start	End
ENSE00001093417	63610187	63610334
ENSE00001093418	63599170	63599283
ENSE00001093423	63598024	63598144
ENSE00001093424	63594778	63594854
ENSE00001154443	63619655	63619800
ENSE00001537147	63620813	63625128
ENSE00003544715	63566338	63566410
ENSE00003566253	63521401	63521577

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.1152 / max 206.8703, expressed in 1812 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105175	17.6357	1804
105177	4.6234	1653
105176	0.5536	325
105178	0.1849	46
105174	0.0896	19
105173	0.0280	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	98.01	gold quality
epithelial cell of pancreas	CL:0000083	97.91	gold quality
inferior vagus X ganglion	UBERON:0005363	97.62	gold quality
calcaneal tendon	UBERON:0003701	97.44	gold quality
jejunal mucosa	UBERON:0000399	97.24	gold quality
corpus callosum	UBERON:0002336	97.21	gold quality
subthalamic nucleus	UBERON:0001906	96.85	gold quality
saphenous vein	UBERON:0007318	96.75	gold quality
urethra	UBERON:0000057	96.61	gold quality
upper arm skin	UBERON:0004263	96.58	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.43	gold quality
medulla oblongata	UBERON:0001896	96.24	gold quality
ileal mucosa	UBERON:0000331	96.10	gold quality
penis	UBERON:0000989	96.05	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.00	gold quality
visceral pleura	UBERON:0002401	95.94	gold quality
seminal vesicle	UBERON:0000998	95.79	gold quality
pigmented layer of retina	UBERON:0001782	95.45	gold quality
synovial joint	UBERON:0002217	95.44	gold quality
superficial temporal artery	UBERON:0001614	95.29	gold quality
layer of synovial tissue	UBERON:0007616	95.18	gold quality
pons	UBERON:0000988	95.16	gold quality
lower lobe of lung	UBERON:0008949	95.07	gold quality
pericardium	UBERON:0002407	95.04	gold quality
tibia	UBERON:0000979	94.97	gold quality
skin of hip	UBERON:0001554	94.86	gold quality
upper leg skin	UBERON:0004262	94.86	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.85	gold quality
superior vestibular nucleus	UBERON:0007227	94.83	gold quality
germinal epithelium of ovary	UBERON:0001304	94.81	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-81383	no	1155.46
E-MTAB-6678	no	3.81
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

278 targeting REEP3, 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-8485	100.00	77.57	4731
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587

Literature-anchored findings (GeneRIF, showing 5)

• Receptor Expression-Enhancing Proteins (REEP) 3 is one of the six human homologs of yeast Yop1p, a probable regulator of cellular vesicle trafficking between the endoplasmatic reticulum and the Golgi network. Positional candidate gene for autism. (PMID:17290275)
• Our results show that REEP3/4 function redundantly to clear the endoplasmic reticulum from metaphase chromatin, thereby ensuring correct progression through mitosis and proper nuclear envelope architecture. (PMID:23911198)
• the endoplasmic reticulum (ER) membrane proteins REEP3 and REEP4 as major determinants of ER morphology in metaphase cells. (PMID:30995177)
• CircFAT1 promotes hepatocellular carcinoma progression via miR-30a-5p/REEP3 pathway. (PMID:33179443)
• REEP3 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in pancreatic cancer. (PMID:38879709)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	reep3b	ENSDARG00000004160
danio_rerio	reep3a	ENSDARG00000017569
mus_musculus	Reep3	ENSMUSG00000019873
rattus_norvegicus	Reep3	ENSRNOG00000000645
drosophila_melanogaster	Reepl1	FBGN0030313
drosophila_melanogaster	CG5539	FBGN0034907
caenorhabditis_elegans		WBGENE00011401
caenorhabditis_elegans		WBGENE00012180
caenorhabditis_elegans		WBGENE00018930
caenorhabditis_elegans		WBGENE00020562
caenorhabditis_elegans	yop-1	WBGENE00022127

Paralogs (5): REEP1 (ENSG00000068615), REEP6 (ENSG00000115255), REEP5 (ENSG00000129625), REEP2 (ENSG00000132563), REEP4 (ENSG00000168476)

Protein

Protein identifiers

Receptor expression-enhancing protein 3 — Q6NUK4 (reviewed: Q6NUK4)

All UniProt accessions (3): A0A0U1RR85, Q6NUK4, X5DR89

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in circumvallate papillae.

Similarity. Belongs to the DP1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NUK4-1	1	yes
Q6NUK4-2	2

RefSeq proteins (1): NP_001001330* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004345	TB2_DP1_HVA22	Family

Pfam: PF03134

UniProt features (11 total): transmembrane region 3, modified residue 2, splice variant 2, chain 1, sequence variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NUK4-F1	64.74	0.07

Functional residue map

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

Post-translational modifications (2): 201, 210

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 254 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, WENDT_COHESIN_TARGETS_UP, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, TGCGCANK_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MEMBRANE_BIOGENESIS, chr10q21, GOBP_ORGANELLE_FISSION, GOBP_NUCLEUS_ORGANIZATION, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_MITOTIC_CELL_CYCLE, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, SENESE_HDAC1_TARGETS_UP

GO Biological Process (4): nuclear envelope organization (GO:0006998), mitotic nuclear membrane reassembly (GO:0007084), cell division (GO:0051301), endoplasmic reticulum tubular network organization (GO:0071786)

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), cytoplasmic microtubule (GO:0005881), endoplasmic reticulum tubular network (GO:0071782), endoplasmic reticulum (GO:0005783), microtubule (GO:0005874), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endoplasmic reticulum subcompartment	2
cytoplasm	2
nucleus organization	1
endomembrane system organization	1
membrane organization	1
mitotic cell cycle	1
nuclear membrane reassembly	1
mitotic nuclear membrane organization	1
cellular process	1
endoplasmic reticulum organization	1
tubulin binding	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
microtubule	1
endomembrane system	1
intracellular membrane-bounded organelle	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
cellular anatomical structure	1

Protein interactions and networks

STRING

642 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
REEP3	JMJD1C	Q15652	900
REEP3	ALPL	P05186	763
REEP3	CTTNBP2	Q8WZ74	520
REEP3	FRMD4A	Q9P2Q2	498
REEP3	AFF3	P51826	481
REEP3	ATL2	Q8NHH9	453
REEP3	NRBF2	Q96F24	450
REEP3	SGCZ	Q96LD1	443
REEP3	ATL3	Q6DD88	441
REEP3	ZNF584	Q8IVC4	438
REEP3	ATL1	Q8WXF7	413
REEP3	XXYLT1	Q8NBI6	406
REEP3	SKAP1	Q86WV1	400
REEP3	BEGAIN	Q9BUH8	396
REEP3	DLGAP3	O95886	391

IntAct

54 interactions, top by confidence:

A	B	Type	Score
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
TTMP	REEP3	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
SFN	REEP3	psi-mi:“MI:0915”(physical association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAB	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
REEP1	PLSCR1	psi-mi:“MI:0914”(association)	0.530
REEP3	UBE2O	psi-mi:“MI:0914”(association)	0.530
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
BAG6	CNOT1	psi-mi:“MI:0914”(association)	0.350
YEATS4	ING3	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
SAMD1		psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
SFN	ANKRD17	psi-mi:“MI:0914”(association)	0.350
YWHAQ	MCRIP1	psi-mi:“MI:0914”(association)	0.350
YWHAB	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAH	BRAF	psi-mi:“MI:0914”(association)	0.350

BioGRID (52): REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-MS), REEP3 (Affinity Capture-RNA), REEP3 (Biochemical Activity), REEP3 (Affinity Capture-MS)

ESM2 similar proteins: A8NJ91, A8WTH5, B1WC88, B3P5J1, B4GPI0, B4R3W7, C1BY38, C3KHG1, O01323, O54851, O70610, O77286, O97172, P0C8Y2, P0DKX4, P28236, P48165, P56695, Q05B71, Q15053, Q16EE5, Q28I13, Q29BX8, Q2KI30, Q2TBG9, Q3ZC78, Q5F3A1, Q5HZP8, Q5I027, Q5R4Q3, Q5R7A0, Q6AZM3, Q6NUK4, Q6P418, Q6PCF8, Q7PSY2, Q8AVX1, Q8BU14, Q8K4Q9, Q8N5K1

Diamond homologs: A0A509ADH4, B2RZ37, P0CN16, P0CN17, Q00765, Q07764, Q10010, Q12402, Q29RM3, Q2KI30, Q32LG5, Q3ZCI8, Q4KMI4, Q4P0H0, Q4QQW1, Q4WTW3, Q51VY4, Q5BB01, Q5BL63, Q5HZP8, Q5R598, Q5RE33, Q5XI60, Q60870, Q66IF1, Q682H0, Q6AZM3, Q6BWH8, Q6CE07, Q6CP93, Q6FMU3, Q6NLY8, Q6NUK4, Q6PBX9, Q75A56, Q7ZVX5, Q871R7, Q8BGH4, Q8K072, Q8LE10

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 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
Activation of BAD and translocation to mitochondria	7	140.2×	2e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	123.8×	3e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	123.8×	3e-12
Activation of BH3-only proteins	7	91.5×	3e-11
RHO GTPases activate PKNs	7	58.4×	7e-10
Intrinsic Pathway for Apoptosis	7	53.9×	1e-09
FOXO-mediated transcription	5	44.2×	1e-06
SARS-CoV-1-host interactions	8	37.0×	1e-09

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	45.8×	1e-06
intracellular protein localization	8	17.4×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1375 predictions. Top by Δscore:

Variant	Effect	Δscore
10:63521573:GTGGT:G	donor_gain	1.0000
10:63521574:TGGT:T	donor_gain	1.0000
10:63521575:GGTG:G	donor_gain	1.0000
10:63521576:GT:G	donor_gain	1.0000
10:63521578:G:GG	donor_gain	1.0000
10:63566336:AGGCT:A	acceptor_gain	1.0000
10:63566337:GGCTG:G	acceptor_gain	1.0000
10:63566405:GAA:G	donor_gain	1.0000
10:63566407:ATAT:A	donor_gain	1.0000
10:63566408:TAT:T	donor_gain	1.0000
10:63566409:ATG:A	donor_loss	1.0000
10:63566410:TGTAA:T	donor_loss	1.0000
10:63566411:G:GG	donor_gain	1.0000
10:63566412:TA:T	donor_loss	1.0000
10:63566413:AAGTA:A	donor_loss	1.0000
10:63566414:AG:A	donor_loss	1.0000
10:63599168:A:AG	acceptor_gain	1.0000
10:63599168:A:AT	acceptor_loss	1.0000
10:63599168:AG:A	acceptor_gain	1.0000
10:63599169:G:GT	acceptor_gain	1.0000
10:63599169:GG:G	acceptor_gain	1.0000
10:63599169:GGA:G	acceptor_gain	1.0000
10:63599169:GGAGA:G	acceptor_gain	1.0000
10:63599280:AAAG:A	donor_loss	1.0000
10:63599281:AAG:A	donor_gain	1.0000
10:63599281:AAGGT:A	donor_loss	1.0000
10:63599282:AGGTA:A	donor_loss	1.0000
10:63599284:G:GG	donor_gain	1.0000
10:63599285:T:G	donor_loss	1.0000
10:63619798:GAG:G	donor_gain	1.0000

AlphaMissense

1638 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:63594784:T:A	W38R	1.000
10:63594784:T:C	W38R	1.000
10:63594796:T:A	W42R	1.000
10:63594796:T:C	W42R	1.000
10:63598064:T:A	W75R	1.000
10:63598064:T:C	W75R	1.000
10:63598068:T:C	L76P	1.000
10:63599255:C:A	A130D	1.000
10:63599260:G:C	A132P	1.000
10:63599264:C:A	A133D	1.000
10:63599272:G:C	A136P	1.000
10:63566360:C:T	P19S	0.999
10:63566361:C:A	P19H	0.999
10:63566366:T:G	Y21D	0.999
10:63566372:T:C	S23P	0.999
10:63566375:T:G	Y24D	0.999
10:63566380:A:C	K25N	0.999
10:63566380:A:T	K25N	0.999
10:63594798:G:C	W42C	0.999
10:63594798:G:T	W42C	0.999
10:63594809:C:A	A46D	0.999
10:63598048:G:C	K69N	0.999
10:63598048:G:T	K69N	0.999
10:63598053:C:A	A71D	0.999
10:63598088:G:A	G83R	0.999
10:63598088:G:C	G83R	0.999
10:63598089:G:A	G83E	0.999
10:63598128:T:C	L96P	0.999
10:63599194:G:C	A110P	0.999
10:63599231:G:A	G122E	0.999

dbSNP variants (sampled 300 via entrez): RS1000026624 (10:63529671 T>A), RS1000028363 (10:63593127 A>G), RS1000038389 (10:63622215 C>G,T), RS1000071449 (10:63552402 C>G,T), RS1000123431 (10:63552730 T>C), RS1000124477 (10:63566169 C>T), RS1000133407 (10:63575028 G>A), RS1000162871 (10:63613942 C>T), RS1000222338 (10:63531991 T>A), RS1000227899 (10:63557072 T>C,G), RS1000234545 (10:63621361 A>G), RS1000249846 (10:63600877 G>C), RS1000251462 (10:63559138 A>C), RS1000265704 (10:63621033 G>A), RS1000292585 (10:63536574 G>A)

Disease associations

OMIM: gene MIM:609348 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

43 associations (top):

Study	Trait	p-value
GCST000248_10	Liver enzyme levels	7.000000e-10
GCST001417_3	Arthritis (juvenile idiopathic)	3.000000e-07
GCST002184_9	Mean platelet volume	3.000000e-18
GCST002446_4	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8.000000e-09
GCST002448_4	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	7.000000e-07
GCST002598_59	Educational attainment	1.000000e-06
GCST002783_1	Body mass index	3.000000e-06
GCST003831_49	Asthma	5.000000e-08
GCST003832_27	Asthma (childhood onset)	1.000000e-07
GCST004904_84	Body mass index	2.000000e-08
GCST005316_457	Intelligence (MTAG)	3.000000e-08
GCST005316_67	Intelligence (MTAG)	5.000000e-11
GCST005991_22	Platelet count	5.000000e-21
GCST006061_187	Atrial fibrillation	5.000000e-16
GCST006061_188	Atrial fibrillation	2.000000e-14
GCST006367_1	Central corneal thickness	9.000000e-09
GCST006414_135	Atrial fibrillation	2.000000e-12
GCST006613_29	Triglycerides	1.000000e-26
GCST007094_194	Diastolic blood pressure	1.000000e-09
GCST007401_1	Factor VII activity	7.000000e-10
GCST007401_24	Factor VII activity	1.000000e-09
GCST007402_6	Factor VII activity or levels	4.000000e-09
GCST007638_42	Glycine levels	1.000000e-12
GCST008167_3	Mean platelet volume	7.000000e-11
GCST009367_89	HDL cholesterol levels x short total sleep time interaction (2df test)	1.000000e-09
GCST009524_14	Household income (MTAG)	2.000000e-10
GCST010245_88	LDL cholesterol levels	2.000000e-08
GCST010796_5266	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_5267	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_5268	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08

EFO canonical traits (20, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0004784	self reported educational attainment
EFO:0004340	body mass index
EFO:0004337	intelligence
EFO:0004309	platelet count
EFO:0005213	central corneal thickness
EFO:0004530	triglyceride measurement
EFO:0006336	diastolic blood pressure
EFO:0004619	factor VII measurement
EFO:0009767	glycine measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009695	household income
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004327	electrocardiography
EFO:0006781	coffee consumption measurement
EFO:0010091	tea consumption measurement
EFO:1002009	macular telangiectasia type 2
EFO:0007992	basophil percentage of leukocytes
EFO:0008039	BMI-adjusted hip circumference

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
perfluorooctane sulfonic acid	decreases expression	2
Valproic Acid	increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	increases phosphorylation	1
K 7174	increases expression	1
bisphenol B	increases expression	1
Rosiglitazone	decreases reaction, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Pioglitazone	decreases reaction, increases expression	1
Decitabine	decreases expression, affects reaction	1
Troglitazone	decreases reaction, increases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases expression	1
Caffeine	affects phosphorylation	1
Coumestrol	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Oxyquinoline	decreases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	increases methylation	1

Clinical trials (associated diseases)

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