ST6GALNAC5

Summary

ST6GALNAC5 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5, HGNC:19342) is a protein-coding gene on chromosome 1p31.1, encoding Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (Q9BVH7). Predominantly catalyzes the biosynthesis of ganglioside GD1alpha from GM1b in the brain, by transferring the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequence of GM1b.

The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 81849 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 61 total — 1 pathogenic
• MANE Select transcript: NM_030965

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19342
Approved symbol	ST6GALNAC5
Name	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
Location	1p31.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC3184, ST6GalNAcV
Ensembl gene	ENSG00000117069
Ensembl biotype	protein_coding
OMIM	610134
Entrez	81849

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000318803, ENST00000477717, ENST00000480428, ENST00000488940, ENST00000496845, ENST00000857212, ENST00000857213

RefSeq mRNA: 3 — MANE Select: NM_030965 NM_001320273, NM_001320274, NM_030965

CCDS: CCDS673

Canonical transcript exons

ENST00000477717 — 5 exons

Exon	Start	End
ENSE00001653546	77050258	77050365
ENSE00001809785	77062975	77067546
ENSE00003470491	76868497	76868742
ENSE00003572292	76867480	76867690
ENSE00003649045	77044204	77044613

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 88.55.

FANTOM5 (CAGE): breadth broad, TPM avg 9.7995 / max 1292.2076, expressed in 763 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3565	7.2353	674
3564	2.1933	540
3573	0.1376	36
3572	0.0831	30
3563	0.0681	33
3576	0.0601	19
201555	0.0221	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
CA1 field of hippocampus	UBERON:0003881	88.55	gold quality
stromal cell of endometrium	CL:0002255	88.39	gold quality
right coronary artery	UBERON:0001625	88.03	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.39	gold quality
middle temporal gyrus	UBERON:0002771	86.36	gold quality
endothelial cell	CL:0000115	85.99	gold quality
prefrontal cortex	UBERON:0000451	85.30	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.05	gold quality
Ammon’s horn	UBERON:0001954	84.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.36	gold quality
left coronary artery	UBERON:0001626	84.35	gold quality
superior frontal gyrus	UBERON:0002661	83.87	gold quality
orbitofrontal cortex	UBERON:0004167	83.87	gold quality
frontal cortex	UBERON:0001870	83.61	gold quality
cerebral cortex	UBERON:0000956	83.21	gold quality
coronary artery	UBERON:0001621	82.61	gold quality
neocortex	UBERON:0001950	82.49	gold quality
entorhinal cortex	UBERON:0002728	82.39	gold quality
nucleus accumbens	UBERON:0001882	81.79	gold quality
Brodmann (1909) area 46	UBERON:0006483	81.19	gold quality
anterior cingulate cortex	UBERON:0009835	80.95	gold quality
cingulate cortex	UBERON:0003027	80.89	gold quality
right frontal lobe	UBERON:0002810	80.86	gold quality
sural nerve	UBERON:0015488	80.45	gold quality
temporal lobe	UBERON:0001871	80.25	gold quality
telencephalon	UBERON:0001893	79.84	gold quality
gall bladder	UBERON:0002110	79.67	gold quality
amygdala	UBERON:0001876	79.22	gold quality
right adrenal gland cortex	UBERON:0035827	79.01	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	1462.52
E-HCAD-35	yes	104.49
E-HCAD-25	yes	85.92
E-ANND-3	yes	4.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

153 targeting ST6GALNAC5, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181D-5P	99.99	73.04	2997
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-568	99.98	69.86	2084
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548J-3P	99.94	72.61	4881

Literature-anchored findings (GeneRIF, showing 1)

• Sequence data from combined Iranian and US controls and CAD affected individuals provided evidence consistent with potential role of ST6GALNAC5 in coronary artery disease (PMID:24399302)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	st6galnac5a	ENSDARG00000039220
danio_rerio	st6galnac5b	ENSDARG00000057433
mus_musculus	St6galnac5	ENSMUSG00000039037
rattus_norvegicus	St6galnac5	ENSRNOG00000049676

Paralogs (14): ST3GAL1 (ENSG00000008513), ST3GAL6 (ENSG00000064225), ST6GALNAC1 (ENSG00000070526), ST6GALNAC2 (ENSG00000070731), ST6GAL1 (ENSG00000073849), ST3GAL4 (ENSG00000110080), ST3GAL5 (ENSG00000115525), C20orf173 (ENSG00000125975), ST3GAL3 (ENSG00000126091), ST6GALNAC4 (ENSG00000136840), ST6GAL2 (ENSG00000144057), ST3GAL2 (ENSG00000157350), ST6GALNAC6 (ENSG00000160408), ST6GALNAC3 (ENSG00000184005)

Protein

Protein identifiers

Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 — Q9BVH7 (reviewed: Q9BVH7)

Alternative names: GD1 alpha synthase, GalNAc alpha-2,6-sialyltransferase V, ST6GalNAc V, Sialyltransferase 7E

All UniProt accessions (2): Q9BVH7, F2Z2C8

UniProt curated annotations — full annotation on UniProt →

Function. Predominantly catalyzes the biosynthesis of ganglioside GD1alpha from GM1b in the brain, by transferring the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequence of GM1b. GD1alpha is a critical molecule in the communication and interaction between neuronal cells and their supportive cells, particularly in brain tissues, and functions as an adhesion molecule in the process of metastasis. Also shows activity towards sialyl Lc4Cer (N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-N-acyl-sphing-4-enine) generating disialyl Lc4Cer, which can lead to the synthesis of disialyl Lewis a (Le(a)), suggested to be a cancer-associated antigen.

Subcellular location. Golgi apparatus membrane.

Pathway. Glycolipid biosynthesis.

Similarity. Belongs to the glycosyltransferase 29 family.

RefSeq proteins (3): NP_001307202, NP_001307203, NP_112227* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001675	Glyco_trans_29	Family
IPR012163	Sialyl_trans	Family
IPR038578	GT29-like_sf	Homologous_superfamily

Pfam: PF00777

Enzyme classification (BRENDA):

• EC 2.4.99.7 — alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3-N-acetylgalactosaminide 6-alpha-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 2 shown:

• a ganglioside GM1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1alpha (d18:1(4E)) + CMP + H(+) (RHEA:41968)
• N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-N-acyl-sphing-4-enine + CMP-N-acetyl-beta-neuraminate = N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->3)-[N-acetyl-alpha-neuraminosyl-(2->6)]-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-N-acyl-sphing-4-enine + CMP + H(+) (RHEA:47884)

UniProt features (10 total): topological domain 2, compositionally biased region 2, glycosylation site 2, chain 1, transmembrane region 1, region of interest 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BVH7-F1	81.83	0.64

Functional residue map

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

Disulfide bonds (1): 96–245

Glycosylation sites (2): 137, 161

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-4085001	Sialic acid metabolism
R-HSA-9840309	Glycosphingolipid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-446219	Synthesis of substrates in N-glycan biosythesis
R-HSA-556833	Metabolism of lipids
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 172 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, RRAGTTGT_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOZGIT_ESR1_TARGETS_DN, MEF2_02, TAL1ALPHAE47_01, AP2_Q3, ONDER_CDH1_TARGETS_3_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, CDP_01, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_SPHINGOLIPID_METABOLIC_PROCESS

GO Biological Process (6): ganglioside biosynthetic process (GO:0001574), glycosphingolipid biosynthetic process (GO:0006688), oligosaccharide metabolic process (GO:0009311), oligosaccharide biosynthetic process (GO:0009312), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629)

GO Molecular Function (4): alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665), sialyltransferase activity (GO:0008373), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1
Glycosphingolipid metabolism	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Asparagine N-linked glycosylation	1
Post-translational protein modification	1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1
Metabolism	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ganglioside metabolic process	1
glycosphingolipid biosynthetic process	1
ceramide biosynthetic process	1
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
carbohydrate metabolic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
primary metabolic process	1
sialyltransferase activity	1
glycosyltransferase activity	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

820 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST6GALNAC5	HBEGF	Q99075	766
ST6GALNAC5	ST6GALNAC1	Q9NSC7	627
ST6GALNAC5	EREG	O14944	578
ST6GALNAC5	EGFR	P00533	562
ST6GALNAC5	PTGIR	P43119	542
ST6GALNAC5	ST8SIA5	O15466	528
ST6GALNAC5	CELF2	O95319	490
ST6GALNAC5	CHCHD7	Q9BUK0	470
ST6GALNAC5	PTGER1	P34995	468
ST6GALNAC5	MMP1	P03956	454
ST6GALNAC5	LHX8	Q68G74	433
ST6GALNAC5	ETV4	P43268	427
ST6GALNAC5	WDR49	Q8IV35	425
ST6GALNAC5	PTGS1	P23219	424
ST6GALNAC5	PTGER2	P43116	423
ST6GALNAC5	PTGER3	P43115	423

IntAct

9 interactions, top by confidence:

A	B	Type	Score
CCDC68	NDC80	psi-mi:“MI:0914”(association)	0.640
ST6GALNAC5	FBP1	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
FTL		psi-mi:“MI:0914”(association)	0.350
KCTD12	CYTH3	psi-mi:“MI:0914”(association)	0.350
ST6GALNAC5	ITGB4	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): FBP1 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), FBP1 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), FBP1 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS)

ESM2 similar proteins: O15466, O35696, O43173, O88829, P13721, P15907, P54751, P61130, P61131, P61132, P61643, P61646, P70126, P70277, P97325, Q02734, Q02745, Q07977, Q08E15, Q11200, Q11201, Q11203, Q11204, Q11205, Q11206, Q16842, Q64685, Q64686, Q64690, Q64692, Q68G12, Q6KB55, Q6KB58, Q6KB59, Q6ZXC8, Q6ZXC9, Q70D51, Q8K4T1, Q8NDV1, Q91Y74

Diamond homologs: A2WX64, A2XVC2, A2ZI41, A5D7T4, O35696, O43173, P13721, P15907, P61130, P61131, P61643, P61644, P61645, P61943, P70277, Q02745, Q07977, Q08E15, Q11200, Q11201, Q11204, Q11205, Q11206, Q16842, Q2QXM3, Q2R2B1, Q5K027, Q5QQ37, Q5RE85, Q64685, Q64689, Q64690, Q6H8M7, Q6KB54, Q6KB58, Q6KB59, Q6ZH45, Q6ZXC9, Q701R0, Q701R1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	55
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4070969	NM_030965.3(ST6GALNAC5):c.1008_1009del (p.Phe336fs)	Pathogenic

SpliceAI

1554 predictions. Top by Δscore:

Variant	Effect	Δscore
1:76867687:GATG:G	donor_gain	0.9900
1:76887150:G:GG	donor_gain	0.9900
1:77016870:TGA:T	donor_gain	0.9900
1:77044202:A:AG	acceptor_gain	0.9900
1:77044203:G:GG	acceptor_gain	0.9900
1:77044609:GACAG:G	donor_gain	0.9900
1:77044610:ACAGG:A	donor_loss	0.9900
1:77044611:CAGGT:C	donor_loss	0.9900
1:77044612:AG:A	donor_loss	0.9900
1:77044613:GGTAC:G	donor_loss	0.9900
1:77044614:GT:G	donor_loss	0.9900
1:77044615:T:C	donor_loss	0.9900
1:77044629:G:T	donor_gain	0.9900
1:76867691:GT:G	donor_loss	0.9800
1:77016871:GAA:G	donor_gain	0.9800
1:77016872:AAA:A	donor_gain	0.9800
1:77044199:TCCA:T	acceptor_loss	0.9800
1:77044202:AGC:A	acceptor_loss	0.9800
1:77044203:G:GA	acceptor_loss	0.9800
1:77044203:GC:G	acceptor_gain	0.9800
1:77044203:GCC:G	acceptor_gain	0.9800
1:77044203:GCCCC:G	acceptor_gain	0.9800
1:77045636:GGCAA:G	donor_gain	0.9800
1:76867691:G:GG	donor_gain	0.9700
1:76867693:G:GG	donor_loss	0.9700
1:76883644:AT:A	donor_gain	0.9700
1:76885251:G:GT	donor_gain	0.9700
1:77044194:T:A	acceptor_loss	0.9700
1:77044194:T:TA	acceptor_gain	0.9700
1:77044203:GCCC:G	acceptor_gain	0.9700

AlphaMissense

2232 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:77044314:T:A	N124K	1.000
1:77044314:T:G	N124K	1.000
1:77050280:A:C	S232R	1.000
1:77050282:C:A	S232R	1.000
1:77050282:C:G	S232R	1.000
1:77050320:G:A	C245Y	1.000
1:77044228:T:C	C96R	0.999
1:77044229:G:A	C96Y	0.999
1:77044230:T:G	C96W	0.999
1:77044243:A:C	S101R	0.999
1:77044245:C:A	S101R	0.999
1:77044245:C:G	S101R	0.999
1:77044297:T:C	C119R	0.999
1:77044306:C:A	R122S	0.999
1:77044307:G:C	R122P	0.999
1:77044313:A:T	N124I	0.999
1:77044348:G:T	G136C	0.999
1:77044349:G:A	G136D	0.999
1:77044349:G:T	G136V	0.999
1:77044453:T:A	W171R	0.999
1:77044453:T:C	W171R	0.999
1:77044455:G:C	W171C	0.999
1:77044455:G:T	W171C	0.999
1:77044456:G:C	G172R	0.999
1:77050258:G:C	R224S	0.999
1:77050258:G:T	R224S	0.999
1:77050276:G:C	W230C	0.999
1:77050276:G:T	W230C	0.999
1:77050281:G:T	S232I	0.999
1:77050284:C:T	T233I	0.999

dbSNP variants (sampled 300 via entrez): RS1000005025 (1:77066196 T>A,G), RS1000022343 (1:76999746 T>A,C), RS1000027475 (1:77007553 G>A,T), RS1000028990 (1:76921555 T>A), RS1000037143 (1:76999558 T>C), RS1000044244 (1:77041335 G>T), RS1000067156 (1:76978064 C>T), RS1000074744 (1:76938179 A>C), RS1000075470 (1:76914451 CTACAG>C), RS1000081580 (1:76907160 A>G), RS1000104235 (1:77001059 T>C), RS1000113659 (1:76894536 G>A), RS1000144852 (1:76993923 GA>G,GAA), RS1000171559 (1:76960788 G>C), RS1000179405 (1:76958176 C>T)

Disease associations

OMIM: gene MIM:610134 | 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

4 associations (top):

Study	Trait	p-value
GCST002337_150	Amyotrophic lateral sclerosis (sporadic)	3.000000e-07
GCST003898_8	Cisplatin-induced ototoxicity	5.000000e-06
GCST006436_7	Triglyceride levels	8.000000e-08
GCST006585_636	Blood protein levels	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006951	ototoxicity
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	6
trichostatin A	affects cotreatment, decreases expression	3
Tretinoin	decreases expression, increases expression	3
sodium arsenite	affects methylation, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Smoke	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
methylmercuric chloride	increases expression	1
terbufos	increases methylation	1
arsenite	increases methylation	1
didecyldimethylammonium	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
aflatoxin B2	increases methylation	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Carbamazepine	affects expression	1
Catechin	affects cotreatment, increases expression	1
Copper	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D3W3	MDCK siat7e-expressing clone 1	Spontaneously immortalized cell line	Female
CVCL_D3W4	MDCK siat7e-expressing clone 2	Spontaneously immortalized 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