PRELID1

Summary

PRELID1 (PRELI domain containing 1, HGNC:30255) is a protein-coding gene on chromosome 5q35.3, encoding PRELI domain-containing protein 1, mitochondrial (Q9Y255). Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified.

Source: NCBI Gene 27166 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 13 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_013237

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30255
Approved symbol	PRELID1
Name	PRELI domain containing 1
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	CGI-106, PX19, PRELI
Ensembl gene	ENSG00000169230
Ensembl biotype	protein_coding
OMIM	605733
Entrez	27166

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000303204, ENST00000502670, ENST00000503216, ENST00000503853, ENST00000504594, ENST00000510701, ENST00000510797, ENST00000511309, ENST00000902811, ENST00000950563

RefSeq mRNA: 2 — MANE Select: NM_013237 NM_001271828, NM_013237

CCDS: CCDS4415, CCDS64328

Canonical transcript exons

ENST00000303204 — 5 exons

Exon	Start	End
ENSE00001158027	177306422	177306949
ENSE00001158034	177303799	177304077
ENSE00003509003	177305871	177305984
ENSE00003526821	177304625	177304850
ENSE00003690449	177306098	177306176

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 88.2449 / max 610.2442, expressed in 1826 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60468	87.9620	1826
60469	0.2829	130

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	98.83	gold quality
monocyte	CL:0000576	98.71	gold quality
granulocyte	CL:0000094	98.70	gold quality
leukocyte	CL:0000738	98.70	gold quality
mucosa of transverse colon	UBERON:0004991	98.40	gold quality
lower esophagus mucosa	UBERON:0035834	97.83	gold quality
vermiform appendix	UBERON:0001154	97.59	gold quality
transverse colon	UBERON:0001157	97.52	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.47	gold quality
right lobe of liver	UBERON:0001114	97.45	gold quality
pancreas	UBERON:0001264	97.27	gold quality
rectum	UBERON:0001052	97.22	gold quality
esophagus mucosa	UBERON:0002469	97.20	gold quality
body of stomach	UBERON:0001161	97.19	gold quality
skin of leg	UBERON:0001511	97.15	gold quality
skin of abdomen	UBERON:0001416	96.92	gold quality
islet of Langerhans	UBERON:0000006	96.90	gold quality
left adrenal gland	UBERON:0001234	96.80	gold quality
metanephros cortex	UBERON:0010533	96.80	gold quality
left adrenal gland cortex	UBERON:0035825	96.78	gold quality
minor salivary gland	UBERON:0001830	96.75	gold quality
esophagus	UBERON:0001043	96.70	gold quality
right adrenal gland	UBERON:0001233	96.64	gold quality
lower esophagus	UBERON:0013473	96.52	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.52	gold quality
bone marrow cell	CL:0002092	96.48	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.41	gold quality
stromal cell of endometrium	CL:0002255	96.37	gold quality
right adrenal gland cortex	UBERON:0035827	96.32	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	69.18
E-HCAD-5	yes	33.98
E-MTAB-9467	yes	17.87
E-CURD-88	yes	11.73
E-MTAB-6678	yes	8.41
E-MTAB-10042	yes	7.15
E-MTAB-6911	no	554.03
E-GEOD-110499	no	529.40
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting PRELID1, 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-559	99.95	72.28	3609
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-6788-5P	97.80	66.41	1532
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-4329	97.68	66.26	1003
HSA-MIR-342-5P	97.25	64.10	817

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 7)

• PRELI interacts with OPA1 to maintain mitochondria structures intact, sustain balanced ion(-)/proton(+) gradients, promote oxidative phosphorylation reactions, regulate pro- and antiapoptotic protein traffic and enable cell responses to induced death. (PMID:21364629)
• PRELI is a vital LEA B cell protein with failsafe genetics (PMID:22666421)
• Loss of TRIAP1 or PRELI impairs the accumulation of Cardiolipin, facilitates the release of cytochrome c, and renders cells vulnerable to apoptosis upon intrinsic and extrinsic stimulation. (PMID:23931759)
• PRELI plays an important role in the suppression of apoptosis in HepG2 cells in response to oxidative stress. (PMID:26275693)
• This study suggests that the regulation of PRELID1 expression, by alternative polyadenylation and other mechanisms, plays a role in mitochondrial ROS signaling and represents a novel prognostic factor and therapeutic target in cancer (PMID:28912168)
• Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins has been reported. (PMID:30850607)
• The pseudogene PRELID1P6 promotes glioma progression via the hnHNPH1-Akt/mTOR axis. (PMID:34108621)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	prelid1b	ENSDARG00000044169
danio_rerio	prelid1a	ENSDARG00000098671
mus_musculus	Prelid1	ENSMUSG00000021486
rattus_norvegicus	Prelid1	ENSRNOG00000016410
drosophila_melanogaster	prel	FBGN0033413
caenorhabditis_elegans		WBGENE00007144

Paralogs (3): PRELID3B (ENSG00000101166), PRELID3A (ENSG00000141391), PRELID2 (ENSG00000186314)

Protein

Protein identifiers

PRELI domain-containing protein 1, mitochondrial — Q9Y255 (reviewed: Q9Y255)

Alternative names: 25 kDa protein of relevant evolutionary and lymphoid interest, Px19-like protein

All UniProt accessions (4): Q9Y255, D6RC47, D6REW1, H0YA79

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4-induced Th2 cell number. May be important for the development of vital and immunocompetent organs.

Subunit / interactions. Forms a complex with TRIAP1 in the mitochondrion intermembrane space. Interacts with OPA1 and AIFM1.

Subcellular location. Mitochondrion. Mitochondrion intermembrane space.

Tissue specificity. Highly expressed in fetal liver; less expressed in fetal brain, lung, and kidney. At the adult stage, expression is drastically reduced in the liver but highly expressed in the spleen, brain, lung, lymph nodes and peripheral blood leukocytes.

Induction. Up-regulated in response to activation in primary T helper cells.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y255-1	1	yes
Q9Y255-2	2

RefSeq proteins (2): NP_001258757, NP_037369* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006797	PRELI/MSF1_dom	Domain
IPR037365	Slowmo/Ups	Family

Pfam: PF04707

Catalyzed reactions (Rhea), 1 shown:

• a 1,2-diacyl-sn-glycero-3-phosphate(in) = a 1,2-diacyl-sn-glycero-3-phosphate(out) (RHEA:36435)

UniProt features (20 total): strand 8, helix 5, sequence conflict 2, transit peptide 1, chain 1, turn 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6I3V	X-RAY DIFFRACTION	1.98
6I3Y	X-RAY DIFFRACTION	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y255-F1	90.74	0.68

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6803204	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-9837999	Mitochondrial protein degradation

MSigDB gene sets: 237 (showing top): ATF_B, GOBP_REGULATION_OF_CELL_ACTIVATION, RNGTGGGC_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, PAL_PRMT5_TARGETS_UP, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION

GO Biological Process (14): apoptotic process (GO:0006915), negative regulation of mitochondrial membrane potential (GO:0010917), positive regulation of endopeptidase activity (GO:0010950), phospholipid transport (GO:0015914), negative regulation of apoptotic process (GO:0043066), regulation of T cell differentiation (GO:0045580), regulation of mitochondrial membrane potential (GO:0051881), positive regulation of T cell apoptotic process (GO:0070234), negative regulation of release of cytochrome c from mitochondria (GO:0090201), regulation of membrane lipid distribution (GO:0097035), intermembrane lipid transfer (GO:0120009), positive regulation of cellular respiration (GO:1901857), positive regulation of phospholipid transport (GO:2001140), lipid transport (GO:0006869)

GO Molecular Function (2): protein binding (GO:0005515), phosphatidic acid transfer activity (GO:1990050)

GO Cellular Component (4): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial intermembrane space (GO:0005758), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
TP53 Regulates Transcription of Cell Death Genes	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid transport	2
membrane organization	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
negative regulation of membrane potential	1
regulation of mitochondrial membrane potential	1
endopeptidase activity	1
positive regulation of peptidase activity	1
regulation of endopeptidase activity	1
organophosphate ester transport	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
T cell differentiation	1
regulation of lymphocyte differentiation	1
regulation of T cell activation	1
regulation of membrane potential	1
positive regulation of lymphocyte apoptotic process	1
T cell apoptotic process	1
regulation of T cell apoptotic process	1
release of cytochrome c from mitochondria	1
negative regulation of organelle organization	1
regulation of release of cytochrome c from mitochondria	1
negative regulation of apoptotic signaling pathway	1
regulation of biological quality	1
positive regulation of metabolic process	1
regulation of cellular respiration	1
cellular respiration	1
phospholipid transport	1
positive regulation of lipid transport	1
regulation of phospholipid transport	1
transport	1
lipid localization	1
binding	1
phospholipid transfer activity	1
nuclear lumen	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

976 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRELID1	TRIAP1	O43715	969
PRELID1	PTGDR2	Q9Y5Y4	692
PRELID1	TAMM41	Q96BW9	691
PRELID1	CAPN2	P17655	684
PRELID1	PRELID2	Q8N945	681
PRELID1	STARD7	Q9NQZ5	553
PRELID1	YME1L1	Q96TA2	527
PRELID1	OMA1	Q96E52	493
PRELID1	OPA1	O60313	491
PRELID1	TAFAZZIN	Q16635	488
PRELID1	PTPMT1	Q8WUK0	488
PRELID1	TIMM17A	Q99595	455
PRELID1	STAT6	P42226	454
PRELID1	PISD	Q9UG56	450
PRELID1	CRLS1	Q9UJA2	427

IntAct

21 interactions, top by confidence:

A	B	Type	Score
PRELID1	TRIAP1	psi-mi:“MI:0914”(association)	0.730
TRIAP1	JCHAIN	psi-mi:“MI:0914”(association)	0.530
CRYAB	CCDC85C	psi-mi:“MI:0914”(association)	0.530
MTNR1A	PRELID1	psi-mi:“MI:0915”(physical association)	0.370
CRYAB		psi-mi:“MI:0914”(association)	0.350
TNFRSF1A	KHNYN	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
RGS9BP	HGS	psi-mi:“MI:0914”(association)	0.350
CRYAA	TRIM24	psi-mi:“MI:0914”(association)	0.350
SLC25A25	HAX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (40): TRIAP1 (Affinity Capture-MS), PRELID1 (Affinity Capture-MS), PRELID1 (Affinity Capture-MS), TRIAP1 (Affinity Capture-MS), PRELID1 (Affinity Capture-MS), STOML2 (Affinity Capture-MS), ADCK1 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), PRELID1 (Affinity Capture-MS), PRELID1 (Affinity Capture-MS), PRELID1 (Affinity Capture-MS), PRELID1 (Two-hybrid), PRELID1 (Affinity Capture-RNA), TRIAP1 (Co-crystal Structure), PRELID1 (Positive Genetic)

ESM2 similar proteins: A1A4M6, B0BNF8, O43502, O54783, O54909, O88984, O95671, P02720, P0C7M7, P27119, P33124, P53808, P53809, P58797, Q1RMS5, Q28960, Q32KN9, Q3UFY7, Q5R752, Q5R8P9, Q6AYP7, Q6AYT9, Q6GV29, Q6NUN0, Q6T499, Q7TN78, Q8BGA8, Q8N0X4, Q8R107, Q8R1R3, Q8R2J9, Q8VDG3, Q8VHQ9, Q90673, Q91WC3, Q92056, Q924H5, Q969T7, Q9CRB3, Q9D4V0

Diamond homologs: A5GFX0, O59707, P35200, Q04006, Q05776, Q32KN9, Q4R5S9, Q54G07, Q58DB0, Q6GM21, Q6P9U4, Q6TMK8, Q8R107, Q8VE85, Q90673, Q96N28, Q9CYY7, Q9UT07, Q9V3U9, Q9V579, Q9Y255, Q9Y3B1, Q0V9N0, Q7PWB1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	7
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3391845	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177414568)x3	Pathogenic

SpliceAI

1043 predictions. Top by Δscore:

Variant	Effect	Δscore
5:177304075:TAGG:T	donor_loss	1.0000
5:177304078:G:GA	donor_loss	1.0000
5:177304079:T:G	donor_loss	1.0000
5:177304618:C:G	acceptor_gain	1.0000
5:177304639:C:CA	acceptor_gain	1.0000
5:177304847:GATG:G	donor_gain	1.0000
5:177304848:ATG:A	donor_gain	1.0000
5:177304848:ATGG:A	donor_loss	1.0000
5:177304849:TG:T	donor_gain	1.0000
5:177304849:TGG:T	donor_loss	1.0000
5:177304850:GG:G	donor_gain	1.0000
5:177304851:G:GG	donor_gain	1.0000
5:177304852:T:A	donor_loss	1.0000
5:177305853:T:TA	acceptor_gain	1.0000
5:177306091:A:AG	acceptor_gain	1.0000
5:177306091:AT:A	acceptor_gain	1.0000
5:177306092:T:G	acceptor_gain	1.0000
5:177306092:T:TA	acceptor_gain	1.0000
5:177306096:A:AG	acceptor_gain	1.0000
5:177306096:AG:A	acceptor_gain	1.0000
5:177306097:G:GA	acceptor_gain	1.0000
5:177306097:GG:G	acceptor_gain	1.0000
5:177306097:GGA:G	acceptor_gain	1.0000
5:177306097:GGAAT:G	acceptor_gain	1.0000
5:177306172:GCAAG:G	donor_gain	1.0000
5:177306174:AAGG:A	donor_loss	1.0000
5:177306175:AGG:A	donor_loss	1.0000
5:177306177:G:GG	donor_gain	1.0000
5:177306177:GT:G	donor_loss	1.0000
5:177306178:T:A	donor_loss	1.0000

AlphaMissense

1431 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:177304633:T:A	V34D	0.999
5:177304725:T:A	W65R	0.999
5:177304725:T:C	W65R	0.999
5:177304028:T:A	W15R	0.998
5:177304028:T:C	W15R	0.998
5:177304069:T:A	N28K	0.998
5:177304069:T:G	N28K	0.998
5:177304657:G:C	R42P	0.998
5:177304706:G:C	K58N	0.998
5:177304706:G:T	K58N	0.998
5:177304771:T:A	V80D	0.998
5:177304782:T:C	S84P	0.998
5:177304829:C:A	N99K	0.998
5:177304829:C:G	N99K	0.998
5:177305980:T:A	V143D	0.998
5:177306146:G:C	G161R	0.998
5:177304644:G:C	D38H	0.997
5:177304645:A:C	D38A	0.997
5:177305884:G:C	R111P	0.997
5:177305888:T:G	C112W	0.997
5:177305940:G:C	A130P	0.997
5:177305941:C:A	A130D	0.997
5:177305947:T:A	V132D	0.997
5:177306105:G:A	G147D	0.997
5:177304030:G:C	W15C	0.996
5:177304030:G:T	W15C	0.996
5:177304052:T:A	W23R	0.996
5:177304052:T:C	W23R	0.996
5:177304061:T:C	Y26H	0.996
5:177304645:A:T	D38V	0.996

dbSNP variants (sampled 300 via entrez): RS1000945330 (5:177303274 G>A,T), RS1001397878 (5:177302923 G>A,C), RS1002048416 (5:177307431 A>G), RS1002825693 (5:177304318 G>A), RS1003185797 (5:177304838 C>T), RS1004412481 (5:177307338 G>A), RS1004786283 (5:177307078 G>A,C), RS1005115063 (5:177303617 C>A,G,T), RS1005224955 (5:177306736 T>C), RS1005474200 (5:177303724 A>G), RS1006074211 (5:177302341 T>C), RS1006386330 (5:177303905 G>A,C,T), RS1007621991 (5:177305174 G>A), RS1008296955 (5:177302393 C>G), RS1008634203 (5:177303752 G>A,C)

Disease associations

OMIM: gene MIM:605733 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST001574_7	Activated partial thromboplastin time	6.000000e-88
GCST006979_483	Heel bone mineral density	7.000000e-10
GCST007293_138	Body fat distribution (arm fat ratio)	1.000000e-08
GCST007293_79	Body fat distribution (arm fat ratio)	2.000000e-11
GCST007293_97	Body fat distribution (arm fat ratio)	2.000000e-10
GCST007294_102	Body fat distribution (trunk fat ratio)	2.000000e-10
GCST007294_155	Body fat distribution (trunk fat ratio)	4.000000e-09
GCST007485_3	Anthropometric traits	3.000000e-67
GCST007490_8	Anthropometric traits (multi-trait analysis)	2.000000e-36
GCST008972_119	Urate levels	2.000000e-06
GCST008972_19	Urate levels	1.000000e-09
GCST012226_74	Waist circumference adjusted for body mass index	3.000000e-13
GCST012228_122	Waist-hip index	2.000000e-12
GCST012230_22	Waist-to-hip ratio adjusted for BMI	2.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004341	body fat distribution
EFO:0004324	body weights and measures
EFO:0004531	urate measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
arsenite	affects binding, increases reaction	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
Sunitinib	increases expression	1
Atrazine	decreases expression	1
Caffeine	decreases expression	1
Doxorubicin	increases expression	1
Nickel	increases expression	1
Smoke	decreases expression, increases abundance	1
Thioacetamide	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	decreases expression	1
Asbestos, Crocidolite	increases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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