LACTB

Summary

LACTB (lactamase beta, HGNC:16468) is a protein-coding gene on chromosome 15q22.2, encoding Serine beta-lactamase-like protein LACTB, mitochondrial (P83111). Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism.

This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms.

Source: NCBI Gene 114294 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 87 total — 1 pathogenic
• MANE Select transcript: NM_032857

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16468
Approved symbol	LACTB
Name	lactamase beta
Location	15q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14902
Ensembl gene	ENSG00000103642
Ensembl biotype	protein_coding
OMIM	608440
Entrez	114294

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000261893, ENST00000413507, ENST00000557972, ENST00000559782

RefSeq mRNA: 3 — MANE Select: NM_032857 NM_001288585, NM_032857, NM_171846

CCDS: CCDS10182, CCDS45275

Canonical transcript exons

ENST00000261893 — 6 exons

Exon	Start	End
ENSE00001100070	63122636	63122702
ENSE00001100073	63129485	63129650
ENSE00001100079	63127353	63127689
ENSE00001141164	63121861	63122228
ENSE00001329391	63141280	63142061
ENSE00003535910	63126859	63127049

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 97.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.9065 / max 1718.7604, expressed in 1812 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147102	18.7640	1787
147103	14.6617	1546
147101	5.6877	1684
147105	1.1240	288
147106	0.3708	168
147104	0.2982	122

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	97.50	gold quality
monocyte	CL:0000576	96.41	gold quality
deltoid	UBERON:0001476	96.06	gold quality
leukocyte	CL:0000738	96.03	gold quality
epithelial cell of pancreas	CL:0000083	95.66	gold quality
vastus lateralis	UBERON:0001379	95.39	gold quality
quadriceps femoris	UBERON:0001377	95.37	gold quality
tibialis anterior	UBERON:0001385	95.23	silver quality
sperm	CL:0000019	94.51	gold quality
amniotic fluid	UBERON:0000173	94.06	gold quality
skeletal muscle tissue	UBERON:0001134	93.41	gold quality
gastrocnemius	UBERON:0001388	93.31	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.24	gold quality
skeletal muscle organ	UBERON:0014892	93.22	gold quality
esophagus squamous epithelium	UBERON:0006920	93.07	gold quality
visceral pleura	UBERON:0002401	93.03	gold quality
muscle of leg	UBERON:0001383	92.97	gold quality
secondary oocyte	CL:0000655	92.86	gold quality
myocardium	UBERON:0002349	92.60	gold quality
kidney epithelium	UBERON:0004819	92.19	gold quality
muscle tissue	UBERON:0002385	92.12	gold quality
jejunal mucosa	UBERON:0000399	91.58	gold quality
biceps brachii	UBERON:0001507	91.38	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.04	gold quality
jejunum	UBERON:0002115	90.94	gold quality
germinal epithelium of ovary	UBERON:0001304	90.93	gold quality
palpebral conjunctiva	UBERON:0001812	90.68	gold quality
right adrenal gland cortex	UBERON:0035827	90.59	gold quality
heart right ventricle	UBERON:0002080	90.57	gold quality
left adrenal gland	UBERON:0001234	90.42	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9221	yes	26.05
E-ANND-3	yes	13.50
E-ENAD-17	no	97.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

71 targeting LACTB, 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-3613-3P	100.00	76.36	7965
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 18)

• Differential expression of a novel gene, G24, in response to hsp27 and cell differentiation in human keratinocytes.(G24 PROTEIN) (PMID:12164938)
• MiR-125b-5p attenuates the secretion of MCP-1 by directly targeting inhibiting LACTB in LPS-stimulated THP-1 macrophages. (PMID:26603571)
• observations uncover a novel mitochondrial tumour suppressor, LACTB–and demonstrate a connection between mitochondrial lipid metabolism and the differentiation program of breast cancer cells, thereby revealing a previously undescribed mechanism of tumour suppression (PMID:28329758)
• LACTB was downexpressed in gliomas. Downregulation of LACTB predicted poor survival of glioma and promoted cell proliferation, invasion, and angiogenesis of gliomas (PMID:28835318)
• our findings successfully demonstrate for the first time that LACTB is a novel epigenetic silenced tumor suppressor through modulating the stability of p53, supporting the pursuit of LACTB as a potential therapeutic target for colorectal cancer (PMID:29899406)
• LACTB promotes metastasis of nasopharyngeal carcinoma via activation of ERBB3/EGFR-ERK signaling resulting in unfavorable patient survival. (PMID:33152401)
• Clinical Significance of beta-Lactamase Expression in Colorectal Cancer. (PMID:33259719)
• LACTB mRNA expression is increased in pancreatic adenocarcinoma and high expression indicates a poor prognosis. (PMID:33507917)
• LACTB suppresses melanoma progression by attenuating PP1A and YAP interaction. (PMID:33675985)
• [Alternative Splicing Analysis of LACTB Gene and Expression Characteristics of Different Transcripts in Leukemia Cell Lines]. (PMID:34362477)
• Structural basis for the catalytic activity of filamentous human serine beta-lactamase-like protein LACTB. (PMID:35247327)
• LACTB suppresses migration and invasion of glioblastoma via downregulating RHOC/Cofilin signaling pathway. (PMID:36088805)
• LACTB induces cancer cell death through the activation of the intrinsic caspase-independent pathway in breast cancer. (PMID:36282364)
• LACTB exerts tumor suppressor properties in epithelial ovarian cancer through regulation of Slug. (PMID:36375842)
• The structure of the human LACTB filament reveals the mechanisms of assembly and membrane binding. (PMID:36534696)
• PCBP1 protects bladder cancer cells from mitochondria injury and ferroptosis by inducing LACTB mRNA degradation. (PMID:37157950)
• OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB. (PMID:38176415)
• LACTB suppresses liver cancer progression through regulation of ferroptosis. (PMID:39047638)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	lactb	ENSDARG00000040803
mus_musculus	Lactb	ENSMUSG00000032370
rattus_norvegicus	Lactb	ENSRNOG00000018081
caenorhabditis_elegans		WBGENE00012890

Paralogs (1): LACTBL1 (ENSG00000215906)

Protein

Protein identifiers

Serine beta-lactamase-like protein LACTB, mitochondrial — P83111 (reviewed: P83111)

All UniProt accessions (2): P83111, H0YNN5

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism. Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism. It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein. Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cells: probably by promoting decreased levels of PISD, thereby affecting mitochondrial lipid metabolism.

Subcellular location. Mitochondrion.

Tissue specificity. Expressed predominantly in skeletal muscle.

Induction. Down-regulated in a number of cancer cells.

Similarity. Belongs to the peptidase S12 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P83111-1	1, a	yes
P83111-2	2

RefSeq proteins (3): NP_001275514, NP_116246, NP_741982 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001466	Beta-lactam-related	Domain
IPR012338	Beta-lactam/transpept-like	Homologous_superfamily
IPR052794	Mito_Ser_Protease_LACTB	Family

Pfam: PF00144

UniProt features (49 total): helix 17, strand 16, turn 4, modified residue 4, transit peptide 1, chain 1, sequence variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1, active site 1, splice variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7V1Y	ELECTRON MICROSCOPY	2.82
7V1Z	ELECTRON MICROSCOPY	2.98
7V21	ELECTRON MICROSCOPY	3.08
7ULW	ELECTRON MICROSCOPY	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P83111-F1	79.71	0.62

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 (1): 164 (acyl-ester intermediate)

Post-translational modifications (4): 283, 284, 297, 342

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 171 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MODULE_255, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_317, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, VERNELL_RETINOBLASTOMA_PATHWAY_DN, ENGELMANN_CANCER_PROGENITORS_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_LIPID_METABOLIC_PROCESS, WANG_TARGETS_OF_MLL_CBP_FUSION_DN, OZEN_MIR125B1_TARGETS, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, SENESE_HDAC3_TARGETS_DN

GO Biological Process (3): proteolysis (GO:0006508), lipid metabolic process (GO:0006629), regulation of lipid metabolic process (GO:0019216)

GO Molecular Function (4): peptidase activity (GO:0008233), identical protein binding (GO:0042802), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (2): mitochondrion (GO:0005739), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
protein metabolic process	1
primary metabolic process	1
lipid metabolic process	1
regulation of primary metabolic process	1
hydrolase activity	1
catalytic activity, acting on a protein	1
protein binding	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

86 interactions, top by confidence:

A	B	Type	Score
COPRS	PRMT5	psi-mi:“MI:0914”(association)	0.770
HSPB2	BAG3	psi-mi:“MI:0914”(association)	0.670
QPRT	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
LACTB	CCDC102A	psi-mi:“MI:0914”(association)	0.560
LACTB	CCDC102A	psi-mi:“MI:0915”(physical association)	0.560
NEURL4	APBB1	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
PRDX3	OPA1	psi-mi:“MI:0914”(association)	0.530
CKMT2	CKMT1A	psi-mi:“MI:0914”(association)	0.500
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
AIFM1	SEC16A	psi-mi:“MI:2364”(proximity)	0.420
HTRA2	HAX1	psi-mi:“MI:2364”(proximity)	0.420
ROS1	LACTB	psi-mi:“MI:0915”(physical association)	0.400
TCEAL7	LACTB	psi-mi:“MI:0915”(physical association)	0.400
MYO18A	LACTB	psi-mi:“MI:0915”(physical association)	0.400
MED13L	LACTB	psi-mi:“MI:0915”(physical association)	0.400
LACTB	PDS5A	psi-mi:“MI:0915”(physical association)	0.400
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
Isy1	PFDN6	psi-mi:“MI:0914”(association)	0.350
ZNFX1	DRC1	psi-mi:“MI:0914”(association)	0.350
IBTK	POP7	psi-mi:“MI:0914”(association)	0.350
Washc1	COX7A2	psi-mi:“MI:0914”(association)	0.350
FOXN1	FOXN1	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ORF52	NVL	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
NUDCD1	DNAJB2	psi-mi:“MI:0914”(association)	0.350
LACTB	NME4	psi-mi:“MI:0914”(association)	0.350

BioGRID (233): LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), LACTB (Affinity Capture-MS), NME4 (Affinity Capture-MS), ECH1 (Affinity Capture-MS), POLDIP2 (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), C1QBP (Affinity Capture-MS)

ESM2 similar proteins: A2AQW0, A2Y8B9, A6NHR9, B8B0E2, F4I933, F4KFT7, O35099, O81360, P10349, P52019, P52020, P83095, P83111, P93236, Q0J6P7, Q0JCU7, Q10MJ1, Q14534, Q3U487, Q40983, Q43307, Q53NI2, Q5E9N5, Q5IH14, Q5R673, Q5R9R1, Q5VS72, Q60649, Q69TY5, Q6YXW6, Q6ZN16, Q7XE48, Q8L5Z4, Q8LPF0, Q8S2G0, Q8VZF3, Q8W519, Q93YU2, Q944I4, Q94E75

Diamond homologs: O05465, O53044, O69773, P00811, P05193, P05364, P18539, P24735, P45460, P71420, P83095, P83111, P85302, P94958, Q48434, Q48743, Q99QC1, Q9EP89, A0A3B1EFQ0, A1IHE7, B6H6L7, P0CU81, Q0C8M0, Q3S2U2, Q8J0G0, Q9Y7D1, Q2FVH6, Q5FRJ7, Q5HDB2, Q6G6M9, Q6GDZ1, Q7A3Q5, Q8NUZ4, Q99RJ0, Q9KJ74, Q9KX40, P9WLZ2, P9WLZ3, B4TD53, O31773

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	74
Likely benign	1
Benign	5

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4070984	NM_032857.5(LACTB):c.785_786del (p.Phe262fs)	Pathogenic

SpliceAI

934 predictions. Top by Δscore:

Variant	Effect	Δscore
15:63122227:AGGTG:A	donor_loss	1.0000
15:63122228:GGTG:G	donor_loss	1.0000
15:63122229:G:GA	donor_loss	1.0000
15:63126855:A:AG	acceptor_gain	1.0000
15:63126855:AAAG:A	acceptor_gain	1.0000
15:63126856:A:G	acceptor_gain	1.0000
15:63126857:A:AG	acceptor_gain	1.0000
15:63126858:G:A	acceptor_gain	1.0000
15:63126858:G:GA	acceptor_gain	1.0000
15:63126858:GG:G	acceptor_loss	1.0000
15:63126858:GGTTT:G	acceptor_gain	1.0000
15:63127044:GAAAA:G	donor_loss	1.0000
15:63127046:AAAG:A	donor_loss	1.0000
15:63127047:AAGG:A	donor_loss	1.0000
15:63127049:GG:G	donor_loss	1.0000
15:63127050:G:GA	donor_loss	1.0000
15:63127349:TTAG:T	acceptor_loss	1.0000
15:63127350:TAG:T	acceptor_loss	1.0000
15:63127352:G:A	acceptor_loss	1.0000
15:63127686:CCTGG:C	donor_loss	1.0000
15:63127687:CTGG:C	donor_loss	1.0000
15:63127688:TGGTG:T	donor_loss	1.0000
15:63127689:GGTG:G	donor_loss	1.0000
15:63127690:GTGA:G	donor_loss	1.0000
15:63127691:T:A	donor_loss	1.0000
15:63129468:C:A	acceptor_gain	1.0000
15:63129471:A:AG	acceptor_gain	1.0000
15:63129471:AAT:A	acceptor_gain	1.0000
15:63129472:A:G	acceptor_gain	1.0000
15:63129473:T:TA	acceptor_gain	1.0000

AlphaMissense

3563 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:63122670:T:A	V131D	1.000
15:63126934:A:T	K167I	1.000
15:63129493:T:C	F321L	1.000
15:63129495:T:A	F321L	1.000
15:63129495:T:G	F321L	1.000
15:63141641:A:C	S494R	1.000
15:63141643:T:A	S494R	1.000
15:63141643:T:G	S494R	1.000
15:63141717:T:A	V519D	1.000
15:63122672:T:C	S132P	0.999
15:63122693:T:A	W139R	0.999
15:63122693:T:C	W139R	0.999
15:63126924:A:C	S164R	0.999
15:63126926:C:A	S164R	0.999
15:63126926:C:G	S164R	0.999
15:63126930:A:C	S166R	0.999
15:63126932:C:A	S166R	0.999
15:63126932:C:G	S166R	0.999
15:63126935:A:C	K167N	0.999
15:63126935:A:T	K167N	0.999
15:63126958:C:A	A175D	0.999
15:63127389:A:C	S218R	0.999
15:63127391:T:A	S218R	0.999
15:63127391:T:G	S218R	0.999
15:63127393:G:A	G219E	0.999
15:63127398:C:A	R221S	0.999
15:63129645:A:C	R371S	0.999
15:63129645:A:T	R371S	0.999
15:63141343:A:C	K394N	0.999
15:63141343:A:T	K394N	0.999

dbSNP variants (sampled 300 via entrez): RS1000103223 (15:63133503 G>A,C), RS1000137379 (15:63133873 T>C), RS1000271771 (15:63123702 C>G), RS1000495823 (15:63141169 G>A,T), RS1000500742 (15:63141884 T>A), RS1000501029 (15:63122027 C>G,T), RS1000558324 (15:63122073 T>C,G), RS1000610872 (15:63122252 G>A,C), RS1000874741 (15:63134840 T>G), RS1000967532 (15:63135100 A>G), RS1001084102 (15:63128259 C>T), RS1001106344 (15:63131893 T>C), RS1001404786 (15:63126067 T>G), RS1001449994 (15:63139456 C>A,G,T), RS1001474714 (15:63127963 G>A)

Disease associations

OMIM: gene MIM:608440 | disease phenotypes: MIM:143890

GenCC curated gene-disease

Mondo (1): hypercholesterolemia, familial, 1 (MONDO:0007750)

Orphanet (1): Homozygous familial hypercholesterolemia (Orphanet:391665)

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000755_13	HDL cholesterol	9.000000e-09
GCST001217_3	Metabolic traits	7.000000e-27
GCST002223_10	HDL cholesterol	4.000000e-11
GCST006249_61	Serum metabolite levels	1.000000e-21
GCST007096_47	Pulse pressure	3.000000e-09
GCST007876_98	Estimated glomerular filtration rate	3.000000e-09
GCST008075_186	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	5.000000e-09
GCST008075_79	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	4.000000e-08
GCST008084_202	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-11
GCST008084_80	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-10
GCST008085_183	HDL cholesterol levels in current drinkers	1.000000e-06
GCST008745_10	Estimated glomerular filtration rate in non-diabetics	8.000000e-09
GCST008747_80	Estimated glomerular filtration rate	3.000000e-08
GCST009733_104	Urinary metabolite levels in chronic kidney disease	3.000000e-19
GCST010002_172	Refractive error	6.000000e-36
GCST012020_456	Serum metabolite levels	5.000000e-63
GCST012020_457	Serum metabolite levels	4.000000e-56

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004725	metabolite measurement
EFO:0005763	pulse pressure measurement
EFO:0004329	alcohol drinking
EFO:0005116	urinary metabolite measurement

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
Valproic Acid	affects cotreatment, increases expression, affects expression	8
trichostatin A	affects expression, affects cotreatment, increases expression	4
methylmercuric chloride	decreases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
entinostat	affects cotreatment, increases expression	2
belinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects expression, decreases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
sodium arsenite	increases expression	1
mercuric bromide	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9I5	Ubigene HEK293 LACTB KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT00000594	PHASE3	COMPLETED	NHLBI Type II Coronary Intervention Study
NCT00092833	PHASE3	TERMINATED	Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
NCT00134485	PHASE3	COMPLETED	Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia
NCT00134511	PHASE3	COMPLETED	Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
NCT00136981	PHASE3	COMPLETED	Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
NCT00384293	PHASE3	TERMINATED	Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED)
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT00280995	PHASE2	COMPLETED	Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT00281008	PHASE2	COMPLETED	Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT01375751	PHASE2	COMPLETED	Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
NCT00515307	PHASE1	COMPLETED	Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
NCT01583647	PHASE1	TERMINATED	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
NCT00005168	Not specified	COMPLETED	Hyperapo B and Coronary Heart Disease
NCT01753232	Not specified	COMPLETED	Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
NCT03018678	Not specified	COMPLETED	Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
NCT03110432	Not specified	COMPLETED	Prospective German Very High Cardiovascular Risk Patients Dyslipidemia Treatment Indication Registry
NCT03795038	Not specified	COMPLETED	Comparison of the Plasma Lipoprotein Apheresis Systems DIAMED and MONET vs. the Whole Blood Apheresis System DALI
NCT03989167	Not specified	RECRUITING	Clinical Decision Support for Familial Hypercholesterolemia
NCT04073797	Not specified	RECRUITING	PET Imaging of Inflammation and Lipid Lowering Study
NCT04118348	Not specified	COMPLETED	Evaluating the Efficacy of Pediatric Lipid Screening Alerts
NCT04313270	Not specified	UNKNOWN	Subclinical Atherosclerosis in Patients With Familial Hypercholesterolemia Treated With Evolocumab®
NCT04526457	Not specified	COMPLETED	Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
NCT04656028	Not specified	ACTIVE_NOT_RECRUITING	Genetic Testing and Motivational Counseling for FH
NCT04722068	Not specified	COMPLETED	Regeneron 1331 Kinetics Sub-Study HoFH
NCT04837638	Not specified	UNKNOWN	Diet Quality and Coronary Artery Calcification in Adults With Heterozygous Familial Hypercholesterolemia
NCT06555120	Not specified	RECRUITING	Screening for Familial Hypercholesterolemia in Children
NCT07543731	Not specified	NOT_YET_RECRUITING	A Real-World Study of Long-Term Adherence and Persistence to Inclisiran, Evolocumab, and Alirocumab