SPTY2D1

Summary

SPTY2D1 (SPT2 chromatin protein domain containing 1, HGNC:26818) is a protein-coding gene on chromosome 11p15.1, encoding Protein SPT2 homolog (Q68D10). Histone chaperone that stabilizes pre-existing histone tetramers and regulates replication-independent histone exchange on chromatin.

Enables DNA binding activity; histone binding activity; and histone chaperone activity. Involved in heterochromatin formation; nucleosome assembly; and regulation of DNA-templated transcription. Located in nucleolus and nucleoplasm.

Source: NCBI Gene 144108 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 84 total — 1 pathogenic
• MANE Select transcript: NM_194285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26818
Approved symbol	SPTY2D1
Name	SPT2 chromatin protein domain containing 1
Location	11p15.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39441, DKFZp686I068, Spt2
Ensembl gene	ENSG00000179119
Ensembl biotype	protein_coding
OMIM	621282
Entrez	144108

Gene structure

Transcript identifiers

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

ENST00000336349, ENST00000536336, ENST00000543776

RefSeq mRNA: 1 — MANE Select: NM_194285 NM_194285

CCDS: CCDS31441

Canonical transcript exons

ENST00000336349 — 6 exons

Exon	Start	End
ENSE00001221287	18612314	18612488
ENSE00001306504	18606403	18609954
ENSE00001313543	18611477	18611554
ENSE00002319260	18634198	18634342
ENSE00003472729	18616875	18616989
ENSE00003693749	18614563	18616098

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 95.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9270 / max 618.8487, expressed in 1803 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118951	13.2784	1760
118952	3.8888	1568
118953	2.1625	992
118956	0.9139	502
118954	0.6834	226

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	95.44	gold quality
calcaneal tendon	UBERON:0003701	93.98	gold quality
germinal epithelium of ovary	UBERON:0001304	91.30	gold quality
epithelial cell of pancreas	CL:0000083	90.82	gold quality
colonic epithelium	UBERON:0000397	90.16	gold quality
palpebral conjunctiva	UBERON:0001812	89.80	gold quality
bone marrow cell	CL:0002092	89.72	gold quality
bone marrow	UBERON:0002371	89.52	gold quality
adrenal tissue	UBERON:0018303	87.45	gold quality
esophagus squamous epithelium	UBERON:0006920	87.38	gold quality
islet of Langerhans	UBERON:0000006	87.29	gold quality
epithelium of mammary gland	UBERON:0003244	86.93	gold quality
mammary duct	UBERON:0001765	86.85	gold quality
cartilage tissue	UBERON:0002418	86.76	gold quality
gingival epithelium	UBERON:0001949	86.71	gold quality
oviduct epithelium	UBERON:0004804	86.69	gold quality
tendon	UBERON:0000043	86.29	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.24	gold quality
gingiva	UBERON:0001828	85.93	gold quality
parietal pleura	UBERON:0002400	85.46	gold quality
tonsil	UBERON:0002372	85.43	gold quality
sural nerve	UBERON:0015488	85.24	gold quality
pancreatic ductal cell	CL:0002079	85.22	silver quality
colonic mucosa	UBERON:0000317	85.17	gold quality
upper arm skin	UBERON:0004263	84.96	silver quality
tibia	UBERON:0000979	84.62	gold quality
oral cavity	UBERON:0000167	84.46	gold quality
gall bladder	UBERON:0002110	84.26	gold quality
skin of hip	UBERON:0001554	84.22	gold quality
stromal cell of endometrium	CL:0002255	84.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	7.69
E-ANND-3	yes	7.15
E-MTAB-2983	no	4.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

231 targeting SPTY2D1, 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-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-27A-3P	99.98	72.13	2955

Literature-anchored findings (GeneRIF, showing 5)

• Spt2 is a novel histone chaperone with a separate DNA-binding domain that facilitates ribosomal DNA transcription through chromatin remodeling during transcription. (PMID:23378026)
• These findings suggest that the association between the SPTY2D1 rs7934205 SNP and serum lipid levels might have ethnic- and/or sex-specificity. (PMID:25755761)
• Results from a study on gene expression variability markers in early-stage human embryos shows that SPTY2D1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• there may be a racial/ethnic- and/or sex-specific association between the SPTY2D1 rs17579600 single nucleotide polymorphism and serum lipid parameters in some ethnic groups. (PMID:26722495)
• The role of histone chaperone spty2d1 in human colorectal cancer. (PMID:35691597)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	spty2d1	ENSDARG00000033889
mus_musculus	Spty2d1	ENSMUSG00000049516
rattus_norvegicus	Spty2d1	ENSRNOG00000070392

Paralogs (1): CCDC61 (ENSG00000104983)

Protein

Protein identifiers

Protein SPT2 homolog — Q68D10 (reviewed: Q68D10)

Alternative names: Protein KU002155, SPT2 domain-containing protein 1

All UniProt accessions (1): Q68D10

UniProt curated annotations — full annotation on UniProt →

Function. Histone chaperone that stabilizes pre-existing histone tetramers and regulates replication-independent histone exchange on chromatin. Required for normal chromatin refolding in the coding region of transcribed genes, and for the suppression of spurious transcription. Binds DNA and histones and promotes nucleosome assembly (in vitro). Facilitates formation of tetrameric histone complexes containing histone H3 and H4. Modulates RNA polymerase 1-mediated transcription. Binds DNA, with a preference for branched DNA species, such as Y-form DNA and Holliday junction DNA.

Subunit / interactions. Interacts with histones. Interacts with a heterotetrameric complex formed by histone H3 and H4, especially when the histone tetramer is not bound to DNA. Interacts with histone H3.3.

Subcellular location. Nucleus. Nucleolus.

Domain organisation. The acidic C-terminal domain mediates interaction with histone H3/H4 complexes.

Miscellaneous. The histone binding domain can functionally complement the yeast ortholog in regulating histone exchange and suppression of spurious transcription.

Similarity. Belongs to the SPT2 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q68D10-1	1	yes
Q68D10-2	2
Q68D10-3	3

RefSeq proteins (1): NP_919261* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013256	Chromatin_SPT2	Family
IPR054552	SPT2_N	Domain

Pfam: PF08243, PF22878

UniProt features (45 total): compositionally biased region 13, region of interest 5, modified residue 4, mutagenesis site 4, sequence conflict 4, splice variant 3, sequence variant 3, helix 3, coiled-coil region 3, cross-link 2, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5BS7	X-RAY DIFFRACTION	3.3
5BSA	X-RAY DIFFRACTION	4.61

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68D10-F1	57.13	0.06

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 (6): 278, 471, 582, 599, 37, 187

Mutagenesis-validated functional residues (4):

Position	Phenotype
641	strongly reduces affinity for histones.
651–652	strongly reduces affinity for histones.
658–659	strongly reduces affinity for histones.
662–663	strongly reduces affinity for histones.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 179 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, TGCACTT_MIR519C_MIR519B_MIR519A, GCAAGGA_MIR502, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, ATGTTAA_MIR302C, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, NRF2_01, CAAGGAT_MIR362, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, OCT1_B, CTTTGTA_MIR524, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION

GO Biological Process (4): nucleosome assembly (GO:0006334), regulation of DNA-templated transcription (GO:0006355), transcription by RNA polymerase I (GO:0006360), heterochromatin formation (GO:0031507)

GO Molecular Function (4): RNA polymerase I core binding (GO:0001042), DNA binding (GO:0003677), histone binding (GO:0042393), histone chaperone activity (GO:0140713)

GO Cellular Component (3): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
nuclear lumen	2
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cellular component assembly	1
heterochromatin boundary formation	1
negative regulation of gene expression, epigenetic	1
heterochromatin organization	1
RNA polymerase core enzyme binding	1
nucleic acid binding	1
protein binding	1
histone binding	1
protein carrier activity	1
cellular anatomical structure	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1751 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPTY2D1	UEVLD	Q8IX04	574
SPTY2D1	H2AC20	Q16777	488
SPTY2D1	H2AC19	P20670	488
SPTY2D1	H2BC21	Q16778	477
SPTY2D1	MRPL40	Q9NQ50	472
SPTY2D1	UTP11	Q9Y3A2	465
SPTY2D1	FAM184B	Q9ULE4	427
SPTY2D1	MPHOSPH8	Q99549	414
SPTY2D1	ELOB	Q15370	406
SPTY2D1	SART3	Q15020	403
SPTY2D1	NLE1	Q9NVX2	396
SPTY2D1	ZNF275	Q9NSD4	393
SPTY2D1	ZNF860	A6NHJ4	375
SPTY2D1	KCTD18	Q6PI47	370
SPTY2D1	FIGLA	Q6QHK4	368

IntAct

98 interactions, top by confidence:

A	B	Type	Score
GDI1	RAB4A	psi-mi:“MI:0914”(association)	0.820
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
SART3	PRPF4	psi-mi:“MI:0914”(association)	0.730
ZNF414	AHCYL1	psi-mi:“MI:0914”(association)	0.640
NPM1	NVL	psi-mi:“MI:0914”(association)	0.610
PLEKHO1	UBA6	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RRP8	NVL	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
NIFK	RSL1D1	psi-mi:“MI:0914”(association)	0.530
SART3	NSA2	psi-mi:“MI:0914”(association)	0.530
RRP8	MAGEB2	psi-mi:“MI:0914”(association)	0.530
ADARB1	SPTY2D1	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RBMX2	WDR46	psi-mi:“MI:0914”(association)	0.530
NPM1	WDR46	psi-mi:“MI:0914”(association)	0.480
MYH6	BDP1	psi-mi:“MI:0914”(association)	0.350
CENPU	CENPX	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (131): SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Synthetic Lethality), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS)

ESM2 similar proteins: A8MQL1, B9DFV2, F4HY56, F4JCU0, F4JP52, F4KIA8, O04539, O80386, O80567, P97868, Q08A72, Q0D5G4, Q0DKP4, Q0JDM0, Q0WPF2, Q15424, Q56XU4, Q5R452, Q5VUA4, Q5XI29, Q68D10, Q68FG3, Q6DGN6, Q6K977, Q7XM16, Q7Y214, Q7Z6E9, Q8BTV2, Q8H1D7, Q8LPQ9, Q8N684, Q8RX78, Q8RY18, Q8VY15, Q93YP4, Q94AI4, Q9C658, Q9C710, Q9C7C4, Q9C7E7

Diamond homologs: E1BUG7, Q0V9A3, Q68D10, Q68FG3, Q6DGN6, Q6NU13, Q8IMP6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 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
Peptide chain elongation	15	26.1×	9e-16
Viral mRNA Translation	15	26.1×	9e-16
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	15	25.8×	9e-16
Selenocysteine synthesis	15	24.7×	1e-15
Eukaryotic Translation Termination	15	24.7×	1e-15
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	15	24.2×	1e-15
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	15	24.2×	1e-15
Formation of a pool of free 40S subunits	15	23.0×	2e-15

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	16	29.6×	6e-17
ribosomal large subunit biogenesis	6	26.6×	1e-05
ribosomal small subunit biogenesis	8	18.2×	2e-06
translation	14	14.4×	2e-10
rRNA processing	8	11.3×	4e-05
nucleosome assembly	8	11.2×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	69
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4070983	NM_194285.3(SPTY2D1):c.1739del (p.Gly580fs)	Pathogenic

SpliceAI

835 predictions. Top by Δscore:

Variant	Effect	Δscore
11:18611471:GCTTA:G	donor_loss	1.0000
11:18611472:CTTAC:C	donor_loss	1.0000
11:18611473:TTACC:T	donor_loss	1.0000
11:18611474:TA:T	donor_loss	1.0000
11:18611475:A:AC	donor_gain	1.0000
11:18611476:C:CC	donor_gain	1.0000
11:18611476:CCT:C	donor_gain	1.0000
11:18611476:CCTCT:C	donor_gain	1.0000
11:18611550:TGTAT:T	acceptor_gain	1.0000
11:18611551:GTAT:G	acceptor_gain	1.0000
11:18611552:TAT:T	acceptor_gain	1.0000
11:18611553:AT:A	acceptor_gain	1.0000
11:18611554:TC:T	acceptor_loss	1.0000
11:18611555:C:CC	acceptor_gain	1.0000
11:18611558:A:AC	acceptor_gain	1.0000
11:18611558:A:C	acceptor_gain	1.0000
11:18611570:C:CT	acceptor_gain	1.0000
11:18611571:A:T	acceptor_gain	1.0000
11:18612307:GTCTT:G	donor_loss	1.0000
11:18612308:TCTTA:T	donor_loss	1.0000
11:18612309:CTTA:C	donor_loss	1.0000
11:18612310:TTA:T	donor_loss	1.0000
11:18612311:TACTT:T	donor_loss	1.0000
11:18612312:A:AC	donor_gain	1.0000
11:18612313:C:CT	donor_gain	1.0000
11:18612313:C:G	donor_loss	1.0000
11:18612313:CTT:C	donor_gain	1.0000
11:18612362:T:TA	donor_gain	1.0000
11:18612462:CAG:C	acceptor_gain	1.0000
11:18612463:A:T	acceptor_gain	1.0000

AlphaMissense

4486 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:18612331:A:C	F623L	1.000
11:18612331:A:T	F623L	1.000
11:18612333:A:G	F623L	1.000
11:18612344:A:C	I619S	1.000
11:18612344:A:T	I619N	1.000
11:18612388:A:C	F604L	1.000
11:18612388:A:T	F604L	1.000
11:18612390:A:G	F604L	1.000
11:18611484:C:G	A653P	0.999
11:18611495:T:G	Q649P	0.999
11:18611506:C:A	W645C	0.999
11:18611506:C:G	W645C	0.999
11:18611508:A:G	W645R	0.999
11:18611508:A:T	W645R	0.999
11:18611539:A:C	S634R	0.999
11:18611539:A:T	S634R	0.999
11:18611541:T:G	S634R	0.999
11:18612327:A:G	Y625H	0.999
11:18612332:A:G	F623S	0.999
11:18612335:A:C	I622S	0.999
11:18612344:A:G	I619T	0.999
11:18612389:A:G	F604S	0.999
11:18616010:C:A	R88S	0.999
11:18616010:C:G	R88S	0.999
11:18609931:T:G	D663A	0.998
11:18609946:A:G	L658P	0.998
11:18611528:A:G	L638S	0.998
11:18611552:T:G	Y630S	0.998
11:18611553:A:C	Y630D	0.998
11:18612327:A:C	Y625D	0.998

dbSNP variants (sampled 300 via entrez): RS1000019199 (11:18634432 C>T), RS1000346679 (11:18617979 A>G), RS1000382959 (11:18635154 C>A), RS1000394845 (11:18631162 C>G,T), RS1000629227 (11:18612653 A>C), RS1000661750 (11:18612912 G>A), RS1000704695 (11:18630038 G>A), RS1000953355 (11:18619623 G>A), RS1001306352 (11:18631334 G>A,T), RS1001570201 (11:18631484 G>A,C), RS1001636079 (11:18614188 C>G), RS1001653101 (11:18631048 A>G,T), RS1001668675 (11:18614485 G>C,T), RS1001721972 (11:18625284 A>T), RS1001933694 (11:18612149 A>G)

Disease associations

OMIM: gene MIM:621282 | 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

13 associations (top):

Study	Trait	p-value
GCST000760_31	Cholesterol, total	3.000000e-08
GCST002221_38	Cholesterol, total	1.000000e-11
GCST004235_78	Total cholesterol levels	3.000000e-13
GCST008078_139	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9.000000e-08
GCST008078_24	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	5.000000e-11
GCST008079_122	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-10
GCST008079_25	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-12
GCST008839_99	Height	1.000000e-10
GCST010204_172	Low density lipoprotein cholesterol levels	5.000000e-13
GCST010243_28	Apolipoprotein B levels	3.000000e-20
GCST010245_116	LDL cholesterol levels	4.000000e-13
GCST011346_66	Total cholesterol levels	1.000000e-08
GCST012227_661	Hip circumference adjusted for BMI	4.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0004615	apolipoprotein B measurement
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

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Cadmium Chloride	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
jinfukang	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Bortezomib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, decreases expression	1
Copper	affects binding, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Disulfiram	affects binding, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	increases expression, affects cotreatment	1
Melphalan	increases expression	1
Nickel	increases expression	1
Plant Oils	increases expression	1
Ribonucleotides	affects binding	1
Silver	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