ZFYVE1

Summary

ZFYVE1 (zinc finger FYVE-type containing 1, HGNC:13180) is a protein-coding gene on chromosome 14q24.2, encoding Zinc finger FYVE domain-containing protein 1 (Q9HBF4). Plays a role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis.

The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 53349 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_021260

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13180
Approved symbol	ZFYVE1
Name	zinc finger FYVE-type containing 1
Location	14q24.2
Locus type	gene with protein product
Status	Approved
Aliases	DFCP1, KIAA1589, TAFF1, PPP1R172
Ensembl gene	ENSG00000165861
Ensembl biotype	protein_coding
OMIM	605471
Entrez	53349

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000318876, ENST00000394207, ENST00000553891, ENST00000554145, ENST00000554250, ENST00000555072, ENST00000556040, ENST00000556143, ENST00000556761, ENST00000864216, ENST00000864217, ENST00000864218, ENST00000864219, ENST00000864220

RefSeq mRNA: 4 — MANE Select: NM_021260 NM_001281734, NM_001281735, NM_021260, NM_178441

CCDS: CCDS41969, CCDS61498, CCDS9811

Canonical transcript exons

ENST00000556143 — 12 exons

Exon	Start	End
ENSE00001097329	72978861	72978969
ENSE00001654948	72993143	72993357
ENSE00001692954	72997811	72998315
ENSE00002252518	73024026	73024942
ENSE00002479146	73026926	73027106
ENSE00003468006	72977927	72978044
ENSE00003548051	72978137	72978234
ENSE00003626894	72975551	72975721
ENSE00003634286	72974080	72974193
ENSE00003683301	72981789	72981895
ENSE00003693539	72974779	72974959
ENSE00003842537	72969451	72971114

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 94.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0600 / max 206.7544, expressed in 1809 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143947	15.2777	1802
143948	5.6488	1705
143946	0.1335	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	94.81	silver quality
middle temporal gyrus	UBERON:0002771	94.57	gold quality
amniotic fluid	UBERON:0000173	94.14	gold quality
ileal mucosa	UBERON:0000331	93.67	gold quality
epithelial cell of pancreas	CL:0000083	92.86	gold quality
saphenous vein	UBERON:0007318	92.63	gold quality
deltoid	UBERON:0001476	92.34	gold quality
endothelial cell	CL:0000115	92.03	gold quality
substantia nigra pars compacta	UBERON:0001965	91.99	gold quality
kidney epithelium	UBERON:0004819	91.49	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.45	gold quality
esophagus squamous epithelium	UBERON:0006920	91.37	gold quality
upper arm skin	UBERON:0004263	90.73	silver quality
lateral globus pallidus	UBERON:0002476	90.69	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.55	gold quality
germinal epithelium of ovary	UBERON:0001304	90.48	gold quality
layer of synovial tissue	UBERON:0007616	90.47	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.46	gold quality
renal medulla	UBERON:0000362	90.08	gold quality
nipple	UBERON:0002030	90.01	gold quality
lower esophagus mucosa	UBERON:0035834	89.95	gold quality
decidua	UBERON:0002450	89.74	gold quality
gingival epithelium	UBERON:0001949	89.32	gold quality
quadriceps femoris	UBERON:0001377	89.28	gold quality
ventral tegmental area	UBERON:0002691	89.28	gold quality
trabecular bone tissue	UBERON:0002483	89.27	gold quality
vastus lateralis	UBERON:0001379	89.21	gold quality
stromal cell of endometrium	CL:0002255	89.20	gold quality
sperm	CL:0000019	89.05	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting ZFYVE1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4319	99.76	69.83	2586

Literature-anchored findings (GeneRIF, showing 1)

• Study reveals that fusion of DFCP1-labeled nascent structures contributes to initial LD growth and that the DFCP1-Rab18 complex is involved in tethering the ER-LD contact for LD expansion. (PMID:30970241)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	zfyve1	ENSDARG00000078652
mus_musculus	Zfyve1	ENSMUSG00000042628
rattus_norvegicus	Zfyve1	ENSRNOG00000008614
drosophila_melanogaster	CG6051	FBGN0039492
drosophila_melanogaster	CG31064	FBGN0051064
caenorhabditis_elegans		WBGENE00003084

Paralogs (13): RUFY3 (ENSG00000018189), ZFYVE16 (ENSG00000039319), SNX29 (ENSG00000048471), ZFYVE26 (ENSG00000072121), RUNDC3B (ENSG00000105784), RUNDC3A (ENSG00000108309), PLEKHM2 (ENSG00000116786), ZFYVE28 (ENSG00000159733), ZFYVE19 (ENSG00000166140), PLEKHF1 (ENSG00000166289), PLEKHF2 (ENSG00000175895), RUFY1 (ENSG00000176783), RUFY2 (ENSG00000204130)

Protein

Protein identifiers

Zinc finger FYVE domain-containing protein 1 — Q9HBF4 (reviewed: Q9HBF4)

Alternative names: Double FYVE-containing protein 1, SR3, Tandem FYVE fingers-1

All UniProt accessions (2): Q9HBF4, G3V5N8

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis. Regulates the morphology, size and distribution of LDs. Mediates the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts by forming a complex with RAB18 and ZW10. Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through FYVE-type zinc finger. (Microbial infection) Upon SARS coronavirus-2/SARS-CoV-2 infection, mediates through binding with non-structural protein 6 (nsp6) the replication organelle-lipid droplet association required to sustain viral replication.

Subunit / interactions. Interacts with RAB18 (in GTP-bound form). Interacts with BSCL2 in a RAB18-dependent manner. Interacts with ZW10. (Microbial infection) Interacts with SARS coronavirus-2/SARS-CoV-2 non-structural protein 6 (nsp6); the interaction is independent of PtdIns3P-binding and leads to endoplasmic reticulum (ER) and double membrane vesicles (DMVs) binding to lipid droplets.

Subcellular location. Golgi apparatus. Golgi stack. Endoplasmic reticulum. Lipid droplet. Preautophagosomal structure. Mitochondrion.

Tissue specificity. Highly expressed in heart. Also detected in the testis. Expressed in all tissues examined, including, brain, placenta, lung, liver, skeletal muscle, pancreas and kidney. Highly expressed in heart.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9HBF4-1	1	yes
Q9HBF4-2	2
Q9HBF4-3	3

RefSeq proteins (4): NP_001268663, NP_001268664, NP_067083, NP_848535 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000306	Znf_FYVE	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017455	Znf_FYVE-rel	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR042427	ZFYV1	Family
IPR047855	ZFYVE1_second_BBox1	Domain
IPR047856	ZFYVE1_first_BBox1	Domain

Pfam: PF01363, PF22586

UniProt features (34 total): binding site 16, mutagenesis site 11, zinc finger region 2, splice variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HBF4-F1	77.00	0.28

Functional residue map

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

Ligand- & substrate-binding residues (16): 651; 654; 721; 724; 737; 740; 745; 748; 767; 770; 604; 607 …

Mutagenesis-validated functional residues (11):

Position	Phenotype
543	disrupts its localization to lipid droplets.
616	partially restore ptdins3p binding; when associated with r-733.
617	drastically reduce ptdins3p binding; when associated with a-619 and a-621. abolishes ptdins3p binding; when associated w
619	drastically reduce ptdins3p binding; when associated with a-617 and a-621. abolishes ptdins3p binding; when associated w
621	drastically reduce ptdins3p binding; when associated with a-617 and a-619. abolishes ptdins3p binding; when associated w
654	abolishes ptdins3p binding but has no effect on its localization to lipid droplets or its interaction with rab18; when a
733	partially restored ptdins3p binding; when associated with r-616.
734	drastically reduce ptdins3p binding; when associated with a-736 and a-738. abolishes ptdins3p binding; when associated w
736	drastically reduce ptdins3p binding; when associated with a-734 and a-738. abolishes ptdins3p binding; when associated w
738	drastically reduce ptdins3p binding; when associated with a-734 and a-736. abolishes ptdins3p binding; when associated w
770	abolishes ptdins3p binding but has no effect on its localization to lipid droplets or its interaction with rab18; when a

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 182 (showing top): BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, PEREZ_TP63_TARGETS, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, FOXO1_01, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, SREBP1_02, GOBP_MACROAUTOPHAGY, SOX9_B1, chr14q24, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, HFH8_01, GOBP_ORGANELLE_ASSEMBLY, GOBP_HOST_MEDIATED_ACTIVATION_OF_VIRAL_PROCESS

GO Biological Process (4): cellular response to starvation (GO:0009267), macroautophagy (GO:0016236), host-mediated activation of viral genome replication (GO:0044829), lipid droplet formation (GO:0140042)

GO Molecular Function (7): 1-phosphatidylinositol binding (GO:0005545), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), zinc ion binding (GO:0008270), phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (13): phagophore assembly site (GO:0000407), mitochondrion (GO:0005739), autophagosome (GO:0005776), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), Golgi stack (GO:0005795), lipid droplet (GO:0005811), mitochondria-associated endoplasmic reticulum membrane contact site (GO:0044233), perinuclear region of cytoplasm (GO:0048471), extrinsic component of omegasome membrane (GO:0097629), omegasome (GO:1990462), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	5
intracellular membrane-bounded organelle	4
cellular anatomical structure	3
endomembrane system	3
phosphatidylinositol phosphate binding	2
cellular response to nutrient levels	1
cellular response to stress	1
response to starvation	1
autophagosome assembly	1
autophagy	1
host-mediated activation of viral process	1
host-mediated perturbation of viral genome replication	1
lipid storage	1
lipid droplet organization	1
membraneless organelle assembly	1
phospholipid binding	1
anion binding	1
transition metal ion binding	1
phosphatidylinositol bisphosphate binding	1
binding	1
cation binding	1
vacuole	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
Golgi apparatus subcompartment	1
intracellular membraneless organelle	1
organelle membrane contact site	1
extrinsic component of organelle membrane	1
omegasome membrane	1

Protein interactions and networks

STRING

1479 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZFYVE1	WIPI2	Q9Y4P8	870
ZFYVE1	PIK3C3	Q8NEB9	862
ZFYVE1	WIPI1	Q5MNZ9	853
ZFYVE1	ATG14	Q6ZNE5	841
ZFYVE1	BECN1	Q14457	793
ZFYVE1	ATG5	Q9H1Y0	786
ZFYVE1	ATG12	O94817	785
ZFYVE1	CALCOCO2	Q13137	776
ZFYVE1	ZPR1	O75312	765
ZFYVE1	PIK3R4	Q99570	729
ZFYVE1	RB1CC1	Q8TDY2	710
ZFYVE1	ATG16L1	Q676U5	695
ZFYVE1	ATG101	Q9BSB4	691
ZFYVE1	ATG13	O75143	688
ZFYVE1	ULK1	O75385	679

IntAct

18 interactions, top by confidence:

A	B	Type	Score
	ZFYVE1	psi-mi:“MI:0407”(direct interaction)	0.600
MAGOHB	ZFYVE1	psi-mi:“MI:0915”(physical association)	0.560
ZFYVE1	PPP1CA	psi-mi:“MI:0915”(physical association)	0.540
PPP1CA	ZFYVE1	psi-mi:“MI:0407”(direct interaction)	0.540
ZFYVE1	MID1	psi-mi:“MI:0914”(association)	0.530
ZFYVE1	PCM1	psi-mi:“MI:0403”(colocalization)	0.430
ZFYVE1	HDAC1	psi-mi:“MI:0915”(physical association)	0.400
ZFYVE1	H1-1	psi-mi:“MI:0915”(physical association)	0.400
ZFYVE1	BCL2L1	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
ZFYVE1	ULK1	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
TBC1D5	ZFYVE1	psi-mi:“MI:0403”(colocalization)	0.270
MAGOHB	ZFYVE1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (64): ZFYVE1 (Affinity Capture-MS), MID1 (Affinity Capture-MS), KCTD6 (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), LONRF2 (Affinity Capture-MS), ZFYVE1 (Two-hybrid), ZFYVE1 (Proximity Label-MS), ZFYVE1 (Proximity Label-MS), ZFYVE1 (Proximity Label-MS), ZFYVE1 (Affinity Capture-MS), ZFYVE1 (Affinity Capture-MS), LONRF2 (Affinity Capture-MS), MID1 (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), KCTD6 (Affinity Capture-MS)

ESM2 similar proteins: A0A0M5K865, A0A2H5RJD4, A0JND4, A4RKC3, A8N5E5, A8NS89, B0D0N9, B4IB36, B4QL99, B6K0N7, E9M7A1, F4IF36, F4JPP0, G4YRT1, G4YUT3, P06623, P09543, P0CV73, P93042, Q0E0Q3, Q0JLS6, Q0UI93, Q1LZE8, Q2H0G2, Q2M3Z7, Q2M3Z8, Q2M405, Q2M408, Q2QMH2, Q2R224, Q2VF19, Q43827, Q5M888, Q5RFD0, Q5RFL4, Q6FLD4, Q75EG6, Q7S8J7, Q803H0, Q810J8

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A4QTV1, A8QCE4, A8XJZ8, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, E1BLZ4, F1MM41, F7EP40, O13821, O14964, O59722, O76902, O95405, O96838, P0CS26, P0CS27, P34756, P40343, Q05B78, Q08CN9, Q0CJV3, Q0P4S0, Q0U4Z8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PIP3	up-regulates	ZFYVE1	“chemical activation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2499 predictions. Top by Δscore:

Variant	Effect	Δscore
14:72971114:CCTAA:C	acceptor_loss	1.0000
14:72971116:T:G	acceptor_loss	1.0000
14:72974075:CCCA:C	donor_loss	1.0000
14:72974076:CCAC:C	donor_loss	1.0000
14:72974078:AC:A	donor_loss	1.0000
14:72974082:A:AC	donor_gain	1.0000
14:72974189:AACAG:A	acceptor_gain	1.0000
14:72974190:ACAG:A	acceptor_gain	1.0000
14:72974191:CAG:C	acceptor_gain	1.0000
14:72974191:CAGC:C	acceptor_gain	1.0000
14:72974192:AG:A	acceptor_gain	1.0000
14:72974194:C:CC	acceptor_gain	1.0000
14:72974194:C:CG	acceptor_loss	1.0000
14:72974202:A:T	acceptor_gain	1.0000
14:72974778:CCTAA:C	donor_gain	1.0000
14:72974782:A:C	donor_gain	1.0000
14:72974791:T:A	donor_gain	1.0000
14:72974955:CAGCT:C	acceptor_gain	1.0000
14:72974958:CT:C	acceptor_gain	1.0000
14:72974966:C:CT	acceptor_gain	1.0000
14:72974967:A:T	acceptor_gain	1.0000
14:72974972:C:CT	acceptor_gain	1.0000
14:72974973:A:T	acceptor_gain	1.0000
14:72977917:CAGTT:C	donor_gain	1.0000
14:72977922:CTTA:C	donor_loss	1.0000
14:72977923:TTA:T	donor_loss	1.0000
14:72977924:TA:T	donor_loss	1.0000
14:72977925:A:AC	donor_gain	1.0000
14:72977925:A:AG	donor_loss	1.0000
14:72977925:ACT:A	donor_gain	1.0000

AlphaMissense

5121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:72970936:C:A	W760C	1.000
14:72970936:C:G	W760C	1.000
14:72970938:A:G	W760R	1.000
14:72970938:A:T	W760R	1.000
14:72970994:C:A	G741V	1.000
14:72970994:C:T	G741E	1.000
14:72971005:G:C	C737W	1.000
14:72971006:C:G	C737S	1.000
14:72971006:C:T	C737Y	1.000
14:72971007:A:G	C737R	1.000
14:72971007:A:T	C737S	1.000
14:72971008:G:C	H736Q	1.000
14:72971008:G:T	H736Q	1.000
14:72971010:G:C	H736D	1.000
14:72971055:A:G	C721R	1.000
14:72971080:C:A	W712C	1.000
14:72971080:C:G	W712C	1.000
14:72971082:A:G	W712R	1.000
14:72971082:A:T	W712R	1.000
14:72971096:G:T	A707D	1.000
14:72974815:A:G	C651R	1.000
14:72974837:C:A	W643C	1.000
14:72974837:C:G	W643C	1.000
14:72974839:A:G	W643R	1.000
14:72974839:A:T	W643R	1.000
14:72974895:C:A	G624V	1.000
14:72974895:C:T	G624E	1.000
14:72974896:C:A	G624W	1.000
14:72974906:G:C	C620W	1.000
14:72974907:C:A	C620F	1.000

dbSNP variants (sampled 300 via entrez): RS1000001815 (14:73025775 G>A), RS1000007796 (14:73018040 C>A,T), RS1000023711 (14:72983279 C>T), RS1000079766 (14:73018379 T>A,C), RS1000137944 (14:72983015 T>C,G), RS1000217832 (14:73013953 G>A,T), RS1000244092 (14:73007327 T>A,C), RS1000303957 (14:72983601 T>C), RS1000380452 (14:73007742 T>G), RS1000441311 (14:72976648 T>C), RS1000471121 (14:73019981 G>A), RS1000511981 (14:73006498 C>A,T), RS1000513934 (14:72971754 C>G), RS1000580637 (14:72970496 G>A), RS1000614010 (14:73008581 A>T)

Disease associations

OMIM: gene MIM:605471 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004689_4	Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (continuous)	6.000000e-06
GCST009391_1986	Metabolite levels	5.000000e-06
GCST010002_156	Refractive error	7.000000e-25
GCST010245_35	LDL cholesterol levels	2.000000e-09
GCST90002403_514	Red blood cell count	3.000000e-19
GCST90002404_397	Red cell distribution width	2.000000e-27

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0008307	tuberculin skin test reactivity measurement
EFO:0008322	decreased susceptibility to bacterial infection
EFO:0005058	tyrosine measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004305	erythrocyte count
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases expression	3
(+)-JQ1 compound	increases expression	3
Acetaminophen	increases expression	3
sodium arsenite	increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
benzo(e)pyrene	decreases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
monomethylarsonous acid	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
bisphenol S	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	decreases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Camptothecin	increases expression	1
Cisplatin	increases expression	1
Coumestrol	decreases expression, affects cotreatment	1
Dactinomycin	increases expression, affects cotreatment	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	increases expression, affects cotreatment	1

Cellosaurus cell lines

6 cell lines: 5 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_5A22	HEK293/GFP-DFCP1	Transformed cell line	Female
CVCL_TZ15	HAP1 ZFYVE1 (-) 1	Cancer cell line	Male
CVCL_TZ16	HAP1 ZFYVE1 (-) 2	Cancer cell line	Male
CVCL_TZ17	HAP1 ZFYVE1 (-) 3	Cancer cell line	Male
CVCL_TZ18	HAP1 ZFYVE1 (-) 4	Cancer cell line	Male
CVCL_TZ19	HAP1 ZFYVE1 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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