SAMD8

Summary

SAMD8 (sterile alpha motif domain containing 8, HGNC:26320) is a protein-coding gene on chromosome 10q22.2, encoding Sphingomyelin synthase-related protein 1 (Q96LT4). Has phospholipase C (PLC) activity.

Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum membrane.

Source: NCBI Gene 142891 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 31 total — 2 pathogenic
• MANE Select transcript: NM_001174156

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26320
Approved symbol	SAMD8
Name	sterile alpha motif domain containing 8
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25082, SMSr
Ensembl gene	ENSG00000156671
Ensembl biotype	protein_coding
OMIM	611575
Entrez	142891

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 20 protein_coding, 1 nonsense_mediated_decay

ENST00000372687, ENST00000447533, ENST00000542569, ENST00000649316, ENST00000671730, ENST00000671800, ENST00000863348, ENST00000863349, ENST00000863350, ENST00000863351, ENST00000863352, ENST00000863353, ENST00000863354, ENST00000928857, ENST00000928858, ENST00000955816, ENST00000955817, ENST00000955818, ENST00000955819, ENST00000955820, ENST00000955821

RefSeq mRNA: 2 — MANE Select: NM_001174156 NM_001174156, NM_144660

CCDS: CCDS53543, CCDS7347

Canonical transcript exons

ENST00000542569 — 6 exons

Exon	Start	End
ENSE00001027749	75164645	75164740
ENSE00001094929	75168541	75168658
ENSE00001413472	75176066	75176216
ENSE00002206063	75176388	75182123
ENSE00002261562	75111656	75111722
ENSE00003601521	75150514	75151106

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 94.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5125 / max 446.2443, expressed in 1806 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105610	10.0613	1753
105608	7.6065	1721
105607	4.3422	1560
105611	0.3346	150
105609	0.1679	49

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	94.10	gold quality
globus pallidus	UBERON:0001875	93.33	gold quality
corpus callosum	UBERON:0002336	92.44	gold quality
spinal cord	UBERON:0002240	92.11	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.95	gold quality
subthalamic nucleus	UBERON:0001906	91.78	gold quality
Brodmann (1909) area 46	UBERON:0006483	91.74	gold quality
cortical plate	UBERON:0005343	91.44	gold quality
cerebellar vermis	UBERON:0004720	90.94	gold quality
medulla oblongata	UBERON:0001896	90.18	gold quality
ventricular zone	UBERON:0003053	89.95	gold quality
calcaneal tendon	UBERON:0003701	89.78	gold quality
inferior vagus X ganglion	UBERON:0005363	89.77	gold quality
gastrocnemius	UBERON:0001388	89.67	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.50	gold quality
lateral globus pallidus	UBERON:0002476	89.29	gold quality
muscle of leg	UBERON:0001383	89.27	gold quality
oviduct epithelium	UBERON:0004804	89.22	gold quality
substantia nigra pars reticulata	UBERON:0001966	89.18	gold quality
substantia nigra pars compacta	UBERON:0001965	89.03	gold quality
superior vestibular nucleus	UBERON:0007227	88.99	gold quality
pigmented layer of retina	UBERON:0001782	88.77	gold quality
deltoid	UBERON:0001476	88.74	gold quality
pons	UBERON:0000988	88.71	gold quality
skeletal muscle tissue	UBERON:0001134	88.60	gold quality
substantia nigra	UBERON:0002038	88.58	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.46	gold quality
tibialis anterior	UBERON:0001385	88.44	gold quality
quadriceps femoris	UBERON:0001377	88.31	gold quality
midbrain	UBERON:0001891	88.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	375.27
E-ANND-3	yes	12.14
E-GEOD-106540	no	251.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

360 targeting SAMD8, 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-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
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-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-150-5P	99.99	66.69	1976

Literature-anchored findings (GeneRIF, showing 5)

• These results indicate a primary role of SMSr in monitoring endoplasmic reticulum ceramide levels. (PMID:24259670)
• findings underscore a role of SMSr as negative regulator of ceramide-induced cell death (PMID:28659495)
• Sphingomyelin synthase-related protein generates diacylglycerol via the hydrolysis of glycerophospholipids in the absence of ceramide. (PMID:33621517)
• Diacylglycerol kinase zeta interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions. (PMID:37166445)
• Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease. (PMID:37586586)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Samd8	ENSMUSG00000021770
rattus_norvegicus	Samd8	ENSRNOG00000013236
drosophila_melanogaster	SMSr	FBGN0052380
caenorhabditis_elegans		WBGENE00018735

Paralogs (2): SGMS2 (ENSG00000164023), SGMS1 (ENSG00000198964)

Protein

Protein identifiers

Sphingomyelin synthase-related protein 1 — Q96LT4 (reviewed: Q96LT4)

Alternative names: Ceramide phosphoethanolamine synthase, Phosphatidylethanolamine Phospholipase C, Sterile alpha motif domain-containing protein 8

All UniProt accessions (5): Q96LT4, A0A3B3IT94, A0A5F9ZGS6, Q5JSC9, V9HVY4

UniProt curated annotations — full annotation on UniProt →

Function. Has phospholipase C (PLC) activity. Shows specificity for phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine, PE), hydrolyzing PE to produce phosphoethanolamine and diacylglycerol (1,2-diacyl-sn-glycerol, DAG). This reaction might act as a regulatory switch to activate serine palmitoyltransferase (SPT) and promote sphingolipid metabolism. Can also function as a ceramide phosphoethanolamine (N-acylsphingoid 1-phosphoethanolamine, CPE) synthase when intracellular ceramide levels are elevated. Binds the headgroup from PE, which is smaller and more hydrophilic than the phosphocholine headgroup transferred in the canonical sphingomyelin synthesis (SMS) reaction by SMS1 or SMS2, and transfers it on to the primary hydroxyl of a ceramide in the lumen of the endoplasmic reticulum. Plays a role as a ceramide sensor, helping to regulate ceramide homeostasis in the endoplasmic reticulum, which is critical for maintaining the integrity of the early secretory pathway.

Subcellular location. Endoplasmic reticulum membrane.

Domain organisation. The SAM domain is required to retain SMAD8 in the endoplasmic reticulum.

Pathway. Sphingolipid metabolism. Phospholipid metabolism.

Similarity. Belongs to the sphingomyelin synthase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96LT4-1	1	yes
Q96LT4-2	2

RefSeq proteins (2): NP_001167627, NP_653261 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR025749	Sphingomyelin_synth-like_dom	Domain
IPR045221	Sphingomyelin_synth-like	Family

Pfam: PF00536, PF14360

Catalyzed reactions (Rhea), 6 shown:

• an N-acylsphing-4-enine + a 1,2-diacyl-sn-glycero-3-phosphoethanolamine = an N-acylsphing-4-enine 1-phosphoethanolamine + a 1,2-diacyl-sn-glycerol (RHEA:36079)
• N-hexadecanoylsphinganine + a 1,2-diacyl-sn-glycero-3-phosphoethanolamine = N-hexadecanoyl-sphinganine-1-phosphoethanolamine + a 1,2-diacyl-sn-glycerol (RHEA:42128)
• an N-acylsphinganine + a 1,2-diacyl-sn-glycero-3-phosphoethanolamine = an N-acylsphinganine-1-phosphoethanolamine + a 1,2-diacyl-sn-glycerol (RHEA:42136)
• N-hexadecanoyl-(4R)-hydroxysphinganine + a 1,2-diacyl-sn-glycero-3-phosphoethanolamine = N-hexadecanoyl-(4R)-hydroxysphinganine-1-phosphoethanolamine + a 1,2-diacyl-sn-glycerol (RHEA:42144)
• an N-acyl-(4R)-4-hydroxysphinganine + a 1,2-diacyl-sn-glycero-3-phosphoethanolamine = an N-acyl-(4R)-4-hydroxysphinganine-1-phosphoethanolamine + a 1,2-diacyl-sn-glycerol (RHEA:42148)
• a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + H2O = phosphoethanolamine + a 1,2-diacyl-sn-glycerol + H(+) (RHEA:78951)

UniProt features (32 total): helix 8, transmembrane region 6, turn 5, strand 4, active site 3, splice variant 2, chain 1, mutagenesis site 1, topological domain 1, domain 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8IJR	ELECTRON MICROSCOPY	3.29
8IJQ	ELECTRON MICROSCOPY	3.45
8W9Y	ELECTRON MICROSCOPY	3.5
8W9W	ELECTRON MICROSCOPY	3.74

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LT4-F1	80.14	0.51

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 (3): 344; 348; 301

Mutagenesis-validated functional residues (1):

Position	Phenotype
348	abolishes cpe synthase activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1660661	Sphingolipid de novo biosynthesis
R-HSA-1430728	Metabolism
R-HSA-428157	Sphingolipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 225 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, SP3_Q3, GOBP_SPHINGOMYELIN_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, ATGTTAA_MIR302C, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, YGACNNYACAR_UNKNOWN, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS

GO Biological Process (5): sphingomyelin biosynthetic process (GO:0006686), ceramide biosynthetic process (GO:0046513), regulation of ceramide biosynthetic process (GO:2000303), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665)

GO Molecular Function (5): sphingomyelin synthase activity (GO:0033188), ceramide cholinephosphotransferase activity (GO:0047493), protein binding (GO:0005515), transferase activity (GO:0016740), phosphotransferase activity, for other substituted phosphate groups (GO:0016780)

GO Cellular Component (6): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sphingolipid biosynthetic process	2
phosphotransferase activity, for other substituted phosphate groups	2
cytoplasm	2
cellular anatomical structure	2
sphingomyelin metabolic process	1
phospholipid biosynthetic process	1
ceramide metabolic process	1
ceramide biosynthetic process	1
regulation of sphingolipid biosynthetic process	1
primary metabolic process	1
lipid metabolic process	1
binding	1
catalytic activity	1
transferase activity, transferring phosphorus-containing groups	1
Golgi apparatus	1
bounding membrane of organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

484 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAMD8	SPTLC1	O15269	541
SAMD8	DEGS1	O15121	501
SAMD8	DEGS2	Q6QHC5	494
SAMD8	CERK	Q8TCT0	487
SAMD8	SPTLC3	Q9NUV7	483
SAMD8	CERT1	Q9Y5P4	480
SAMD8	SPTLC2	O15270	479
SAMD8	SMPD2	O60906	479
SAMD8	AP3M1	Q9Y2T2	476
SAMD8	DUSP13B	Q9UII6	451
SAMD8	CERS5	Q8N5B7	448
SAMD8	DGKD	Q16760	441
SAMD8	CERS6	Q6ZMG9	435
SAMD8	KDSR	Q06136	433
SAMD8	ERLIN1	O75477	423

IntAct

8 interactions, top by confidence:

A	B	Type	Score
	TMEM223	psi-mi:“MI:0914”(association)	0.350
MFNG	PLSCR1	psi-mi:“MI:0914”(association)	0.350
SHISAL1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
TCTN3	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
	SAMD8	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): SAMD8 (Proximity Label-MS), SAMD8 (Affinity Capture-MS), SAMD8 (Affinity Capture-MS), SAMD8 (Proximity Label-MS), SAMD8 (Proximity Label-MS), SAMD8 (Proximity Label-MS), SAMD8 (Affinity Capture-RNA), SAMD8 (Affinity Capture-MS), SAMD8 (Affinity Capture-MS)

ESM2 similar proteins: A2BIE7, A6QLE6, D3Z649, D3Z7P3, E9PTA2, E9PV86, O94759, O94925, P13264, P13666, Q05B45, Q08DW9, Q13507, Q13635, Q17R16, Q32M45, Q4R766, Q4VBD2, Q5EAY8, Q5JUK3, Q5U4E0, Q5ZIN0, Q5ZLG8, Q61115, Q6AYT7, Q6NXT6, Q6UVM3, Q6UVM4, Q6ZPR4, Q7TQ48, Q7TSY2, Q7Z6J6, Q7Z7J7, Q86TD4, Q8BWB6, Q8C5H1, Q8N2K0, Q8NBT3, Q8NFT2, Q8QFV0

Diamond homologs: A0AAS4, Q20696, Q4JM44, Q4R763, Q56Y01, Q7T3T4, Q7TSX5, Q86VZ5, Q8NHU3, Q8VCQ6, Q96LT4, Q9D4B1, Q9DA37, Q9TYV2, Q9U3D4, Q9VS60, Q20735, Q9M325, Q9SH93, E9AFX2, Q965Q4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	24
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4070960	NM_001174156.2(SAMD8):c.606del (p.Ala202_Met203insTer)	Pathogenic
4070961	NM_001174156.2(SAMD8):c.607A>T (p.Met203Leu)	Pathogenic

SpliceAI

1766 predictions. Top by Δscore:

Variant	Effect	Δscore
10:75150498:T:A	acceptor_gain	1.0000
10:75150511:CA:C	acceptor_loss	1.0000
10:75150512:A:AG	acceptor_gain	1.0000
10:75150512:AG:A	acceptor_gain	1.0000
10:75150512:AGGC:A	acceptor_loss	1.0000
10:75150513:G:GG	acceptor_gain	1.0000
10:75150513:GG:G	acceptor_gain	1.0000
10:75150513:GGC:G	acceptor_gain	1.0000
10:75150513:GGCA:G	acceptor_gain	1.0000
10:75168655:A:T	donor_gain	1.0000
10:75168655:AAAG:A	donor_loss	1.0000
10:75168656:AAG:A	donor_loss	1.0000
10:75168657:AGG:A	donor_loss	1.0000
10:75168658:GG:G	donor_loss	1.0000
10:75168659:G:C	donor_loss	1.0000
10:75176065:GAT:G	acceptor_gain	1.0000
10:75176065:GATAT:G	acceptor_gain	1.0000
10:75176213:GAAT:G	donor_gain	1.0000
10:75176215:AT:A	donor_gain	1.0000
10:75150510:A:AG	acceptor_gain	0.9900
10:75150510:ACAG:A	acceptor_gain	0.9900
10:75150511:C:G	acceptor_gain	0.9900
10:75151102:GACAG:G	donor_gain	0.9900
10:75151104:CAGGT:C	donor_loss	0.9900
10:75151105:AGGTA:A	donor_loss	0.9900
10:75151107:G:GA	donor_loss	0.9900
10:75151108:T:A	donor_loss	0.9900
10:75164643:A:AG	acceptor_gain	0.9900
10:75164644:G:GG	acceptor_gain	0.9900
10:75164644:GC:G	acceptor_gain	0.9900

AlphaMissense

2760 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:75150562:T:A	W12R	1.000
10:75150562:T:C	W12R	1.000
10:75150590:T:C	L21P	1.000
10:75150650:G:A	G41E	1.000
10:75150683:T:C	L52P	1.000
10:75150725:A:T	K66I	1.000
10:75150726:A:C	K66N	1.000
10:75150726:A:T	K66N	1.000
10:75150981:G:C	K151N	1.000
10:75150981:G:T	K151N	1.000
10:75150991:A:C	S155R	1.000
10:75150993:T:A	S155R	1.000
10:75150993:T:G	S155R	1.000
10:75151055:G:C	R176P	1.000
10:75151085:T:A	L186H	1.000
10:75151085:T:C	L186P	1.000
10:75151090:G:C	D188H	1.000
10:75151090:G:T	D188Y	1.000
10:75151091:A:C	D188A	1.000
10:75151091:A:G	D188G	1.000
10:75151091:A:T	D188V	1.000
10:75151100:T:C	L191S	1.000
10:75164667:T:C	F201L	1.000
10:75164668:T:G	F201C	1.000
10:75164669:T:A	F201L	1.000
10:75164669:T:G	F201L	1.000
10:75168558:G:C	R231T	1.000
10:75168558:G:T	R231M	1.000
10:75168559:G:C	R231S	1.000
10:75168559:G:T	R231S	1.000

dbSNP variants (sampled 300 via entrez): RS1000044447 (10:75158951 A>G), RS1000095697 (10:75102933 C>T), RS1000113490 (10:75116276 T>G), RS1000132748 (10:75152808 G>C), RS1000241901 (10:75172279 G>A), RS1000249582 (10:75138010 T>C), RS1000275529 (10:75104568 G>A,T), RS1000283755 (10:75104872 C>A), RS1000345974 (10:75125818 A>G), RS1000400769 (10:75132045 T>C), RS1000450811 (10:75175554 A>T), RS1000477927 (10:75137648 T>C), RS1000479417 (10:75159219 A>G), RS1000479928 (10:75139720 T>G), RS1000500019 (10:75162064 A>G)

Disease associations

OMIM: gene MIM:611575 | disease phenotypes: MIM:606170, MIM:143890

GenCC curated gene-disease

Mondo (2): genitopatellar syndrome (MONDO:0011640), hypercholesterolemia, familial, 1 (MONDO:0007750)

Orphanet (2): Genitopatellar syndrome (Orphanet:85201), Homozygous familial hypercholesterolemia (Orphanet:391665)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012489_65	Heel bone mineral density x serum urate levels interaction	1.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565255	Genitopatellar Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Sphingomyelin synthase

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression, increases methylation	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	increases methylation, increases expression	2
Cyclosporine	decreases methylation, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
benzo(e)pyrene	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
dimethylarsinous acid	increases expression	1
torcetrapib	increases expression	1
jinfukang	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Leflunomide	increases expression	1
Air Pollutants, Occupational	increases expression	1
Cadmium	increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Ketoconazole	increases expression	1
Lead	affects expression	1
Methapyrilene	increases methylation	1
Nickel	increases expression	1
Plant Oils	increases expression	1
Thiram	increases expression	1
Tretinoin	increases expression	1
Urethane	increases expression	1

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