B3GALT2

Summary

B3GALT2 (beta-1,3-galactosyltransferase 2, HGNC:917) is a protein-coding gene on chromosome 1q31.2, encoding Beta-1,3-galactosyltransferase 2 (O43825). Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue.

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose.

Source: NCBI Gene 8707 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 63 total — 6 pathogenic
• MANE Select transcript: NM_003783

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:917
Approved symbol	B3GALT2
Name	beta-1,3-galactosyltransferase 2
Location	1q31.2
Locus type	gene with protein product
Status	Approved
Aliases	beta3Gal-T2
Ensembl gene	ENSG00000162630
Ensembl biotype	protein_coding
OMIM	603018
Entrez	8707

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000367434, ENST00000958440

RefSeq mRNA: 1 — MANE Select: NM_003783 NM_003783

CCDS: CCDS1383

Canonical transcript exons

ENST00000367434 — 2 exons

Exon	Start	End
ENSE00001444493	193178730	193181682
ENSE00001444494	193186019	193186613

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 94.48.

FANTOM5 (CAGE): breadth broad, TPM avg 4.5848 / max 1076.5211, expressed in 500 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16456	4.3564	489
16455	0.2284	115

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	94.48	gold quality
heart right ventricle	UBERON:0002080	94.11	gold quality
endothelial cell	CL:0000115	89.05	gold quality
myocardium	UBERON:0002349	88.00	gold quality
prefrontal cortex	UBERON:0000451	87.86	gold quality
cardiac ventricle	UBERON:0002082	86.23	gold quality
heart left ventricle	UBERON:0002084	86.16	gold quality
left ventricle myocardium	UBERON:0006566	86.10	gold quality
superior frontal gyrus	UBERON:0002661	84.99	gold quality
Brodmann (1909) area 23	UBERON:0013554	84.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.65	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.58	gold quality
postcentral gyrus	UBERON:0002581	84.11	gold quality
entorhinal cortex	UBERON:0002728	84.09	gold quality
gall bladder	UBERON:0002110	83.77	gold quality
frontal cortex	UBERON:0001870	83.75	gold quality
neocortex	UBERON:0001950	83.32	gold quality
cerebral cortex	UBERON:0000956	82.82	gold quality
cardiac muscle of right atrium	UBERON:0003379	82.75	gold quality
parietal lobe	UBERON:0001872	82.55	gold quality
cardiac atrium	UBERON:0002081	81.72	gold quality
primary visual cortex	UBERON:0002436	81.67	gold quality
right atrium auricular region	UBERON:0006631	81.63	gold quality
orbitofrontal cortex	UBERON:0004167	81.45	gold quality
cingulate cortex	UBERON:0003027	81.36	gold quality
lateral nuclear group of thalamus	UBERON:0002736	81.35	gold quality
heart	UBERON:0000948	81.26	gold quality
anterior cingulate cortex	UBERON:0009835	81.20	gold quality
apex of heart	UBERON:0002098	79.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.80	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6386	no	166.69
E-ANND-3	no	2.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

163 targeting B3GALT2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-433-3P	99.98	69.37	1203
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-8082	99.95	67.27	1170

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	b3galt2	ENSDARG00000102061
mus_musculus	B3galt2	ENSMUSG00000033849
rattus_norvegicus	B3galt2	ENSRNOG00000088477
drosophila_melanogaster	brn	FBGN0000221
caenorhabditis_elegans		WBGENE00000270
caenorhabditis_elegans		WBGENE00007096
caenorhabditis_elegans		WBGENE00017653

Paralogs (15): B3GNT7 (ENSG00000156966), B3GALNT2 (ENSG00000162885), B3GALNT1 (ENSG00000169255), B3GNT2 (ENSG00000170340), B3GALT1 (ENSG00000172318), B3GALT6 (ENSG00000176022), B3GNT4 (ENSG00000176383), B3GNT5 (ENSG00000176597), B3GNT8 (ENSG00000177191), B3GNT3 (ENSG00000179913), B3GALT5 (ENSG00000183778), B3GNT6 (ENSG00000198488), B3GALT9 (ENSG00000214654), B3GALT4 (ENSG00000235863), B3GNT9 (ENSG00000237172)

Protein

Protein identifiers

Beta-1,3-galactosyltransferase 2 — O43825 (reviewed: O43825)

Alternative names: UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2

All UniProt accessions (1): O43825

UniProt curated annotations — full annotation on UniProt →

Function. Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Detected in heart and brain.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 31 family.

RefSeq proteins (1): NP_003774* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002659	Glyco_trans_31	Family
IPR045821	B3GT2_N	Domain

Pfam: PF01762, PF19341

Enzyme classification (BRENDA):

• EC 2.4.1.62 — ganglioside galactosyltransferase (BRENDA: 11 organisms, 28 substrates, 17 inhibitors, 13 Km, 3 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-ACETYL-D-GALACTOSAMINYL-(N-ACETYLNEURAMINYL)-D	0.01–0.18	5
UDP-GALACTOSE	0.012–2.47	4
GALNACALPHA-FCHASE	1.68	1
GALNACBETA-FCHASE	3.18	1
UDP-GAL	1.11	1

Catalyzed reactions (Rhea), 3 shown:

• a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1’)-Cer(d18:1(4E)) + UDP + H(+) (RHEA:16045)
• a neolactoside IV(3)-beta-GlcNAc-nLc4Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside IV(3)-beta-[Gal-beta-(1->3)-GlcNAc]-nLc4Cer(d18:1(4E)) + UDP + H(+) (RHEA:41936)
• an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl derivative + UDP + H(+) (RHEA:53432)

UniProt features (11 total): glycosylation site 5, topological domain 2, chain 1, sequence conflict 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43825-F1	78.89	0.61

Functional residue map

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

Glycosylation sites (5): 75, 100, 119, 176, 226

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9037629	Lewis blood group biosynthesis
R-HSA-1430728	Metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives
R-HSA-9033658	Blood group systems biosynthesis

MSigDB gene sets: 220 (showing top): RNGTGGGC_UNKNOWN, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, TGCGCANK_UNKNOWN, RORA1_01, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GCANCTGNY_MYOD_Q6, TAL1ALPHAE47_01, CAGCTG_AP4_Q5, EFC_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, NF1_Q6_01, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS

GO Biological Process (8): protein O-linked glycosylation (GO:0006493), glucosylceramide metabolic process (GO:0006678), glycoprotein biosynthetic process (GO:0009101), oligosaccharide biosynthetic process (GO:0009312), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), galactosylceramide biosynthetic process (GO:0006682), carbohydrate derivative biosynthetic process (GO:1901137)

GO Molecular Function (5): N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (GO:0008499), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), hexosyltransferase activity (GO:0016758)

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

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Blood group systems biosynthesis	1
Metabolism	1
Metabolism of carbohydrates and carbohydrate derivatives	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
glycosylceramide metabolic process	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
primary metabolic process	1
galactosylceramide metabolic process	1
glycosphingolipid biosynthetic process	1
galactolipid biosynthetic process	1
ceramide biosynthetic process	1
biosynthetic process	1
carbohydrate derivative metabolic process	1
UDP-galactosyltransferase activity	1
beta-1,3-galactosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
glycosyltransferase 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

606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B3GALT2	C1GALT1	Q9NS00	846
B3GALT2	A4GALT	Q9NPC4	799
B3GALT2	WDR46	O15213	764
B3GALT2	B4GALT1	P15291	757
B3GALT2	RPS18	P25232	644
B3GALT2	GLRX2	Q9NS18	493
B3GALT2	ST6GALNAC6	Q969X2	481
B3GALT2	EOGT	Q5NDL2	462
B3GALT2	CDC73	Q6P1J9	453
B3GALT2	RO60	P10155	444
B3GALT2	MAN2C1	Q9NTJ4	441
B3GALT2	PAPOLG	Q9BWT3	429
B3GALT2	FAM229B	Q4G0N7	428
B3GALT2	TMEM130	Q8N3G9	419
B3GALT2	CHST2	Q9Y4C5	406

IntAct

6 interactions, top by confidence:

A	B	Type	Score
B3GALT2	GNPTAB	psi-mi:“MI:0915”(physical association)	0.620
B3GALT2	LTN1	psi-mi:“MI:0914”(association)	0.530
SNX22	B3GALT2	psi-mi:“MI:0915”(physical association)	0.370
B3GALT2	LRP5	psi-mi:“MI:0914”(association)	0.350
B3GALT2	LIG1	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): CLN3 (Affinity Capture-MS), GNPTG (Affinity Capture-MS), MRS2 (Affinity Capture-MS), LRP5 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), APOB (Affinity Capture-MS), LTN1 (Affinity Capture-MS), TMEM259 (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), TMEM259 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), LRP5 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), GNPTAB (Affinity Capture-MS)

ESM2 similar proteins: A0A2C9JXL4, O43825, O54904, O54905, O75752, O93403, P79948, P79949, Q08BL3, Q0VC84, Q24342, Q5F3G7, Q5HZL5, Q5R5Y3, Q5RAL7, Q5XJP0, Q5YB40, Q66H69, Q6AY39, Q6DE15, Q6GNL1, Q6P3P5, Q6QMG1, Q76EC5, Q793U7, Q7JK24, Q7JK25, Q7JK26, Q7K237, Q7SYI5, Q7T3S5, Q864U6, Q864U8, Q8BGY6, Q8K0J2, Q8NFL0, Q920V1, Q99NB2, Q9BYG0, Q9JI67

Diamond homologs: A8MXE2, O43825, O54904, O54905, O75752, O88178, O96024, Q1RLK6, Q5HZL5, Q5JCS9, Q5R5Y3, Q5RAL7, Q66H69, Q6AY39, Q6DE15, Q6P3P5, Q793U7, Q7JK24, Q7JK25, Q7JK26, Q7T3S5, Q864U6, Q864U8, Q8BGY6, Q8R3I9, Q920V1, Q95US5, Q99NB2, Q9BYG0, Q9C0J1, Q9JI67, Q9MYM7, Q9N293, Q9N294, Q9N295, Q9Y2A9, Q9Y2C3, Q9Y5Z6, Q9Z0F0, Q3USF0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	0
Uncertain significance	50
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1455935	NC_000001.10:g.(?193091331)(193172992_?)del	Pathogenic
3391872	GRCh37/hg19 1q31.1-31.3(chr1:190020202-193975983)x1	Pathogenic
560081	Single allele	Pathogenic
60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	Pathogenic
647462	NC_000001.11:g.(?193122191)(193250722_?)del	Pathogenic
830490	NC_000001.11:g.(?193122201)(193250712_?)del	Pathogenic

SpliceAI

206 predictions. Top by Δscore:

Variant	Effect	Δscore
1:193181432:T:TC	acceptor_gain	0.9800
1:193181679:CATT:C	acceptor_gain	0.9200
1:193181683:C:CC	acceptor_gain	0.9100
1:193186014:CATA:C	donor_loss	0.9000
1:193186015:ATACC:A	donor_loss	0.9000
1:193186016:TA:T	donor_loss	0.9000
1:193186017:A:C	donor_loss	0.9000
1:193186013:ACAT:A	donor_loss	0.8900
1:193186021:T:TA	donor_gain	0.8900
1:193181432:T:C	acceptor_gain	0.8700
1:193186017:ACCTT:A	donor_gain	0.8600
1:193186018:CCTTC:C	donor_gain	0.8600
1:193186012:GACAT:G	donor_loss	0.8500
1:193186138:T:TA	donor_gain	0.8400
1:193181681:TT:T	acceptor_gain	0.7700
1:193181425:A:C	acceptor_gain	0.7400
1:193186487:CCTCT:C	donor_gain	0.7300
1:193186487:CCT:C	donor_gain	0.7200
1:193186019:C:A	donor_loss	0.7000
1:193186483:TTTAC:T	donor_loss	0.6700
1:193186484:TTA:T	donor_loss	0.6700
1:193186485:TA:T	donor_loss	0.6700
1:193186487:CCTC:C	donor_loss	0.6700
1:193186017:A:AC	donor_gain	0.6500
1:193186018:C:CC	donor_gain	0.6500
1:193186481:GATTT:G	donor_loss	0.6400
1:193186482:ATTTA:A	donor_loss	0.6400
1:193181424:CATGA:C	acceptor_gain	0.6300
1:193186018:CCTT:C	donor_gain	0.6200
1:193186488:C:G	donor_loss	0.6000

AlphaMissense

2792 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:193180416:G:C	H383D	1.000
1:193180418:G:A	S382F	1.000
1:193180419:A:G	S382P	1.000
1:193180436:T:C	Y376C	1.000
1:193180471:G:C	F364L	1.000
1:193180471:G:T	F364L	1.000
1:193180473:A:G	F364L	1.000
1:193180520:A:G	L348P	1.000
1:193180522:A:C	C347W	1.000
1:193180523:C:T	C347Y	1.000
1:193180524:A:G	C347R	1.000
1:193180529:C:T	G345E	1.000
1:193180530:C:A	G345W	1.000
1:193180530:C:G	G345R	1.000
1:193180530:C:T	G345R	1.000
1:193180540:A:C	D341E	1.000
1:193180540:A:T	D341E	1.000
1:193180541:T:A	D341V	1.000
1:193180541:T:C	D341G	1.000
1:193180541:T:G	D341A	1.000
1:193180542:C:A	D341Y	1.000
1:193180542:C:G	D341H	1.000
1:193180544:T:A	E340V	1.000
1:193180610:A:T	V318D	1.000
1:193180616:C:T	G316D	1.000
1:193180627:A:C	C312W	1.000
1:193180628:C:T	C312Y	1.000
1:193180630:G:C	F311L	1.000
1:193180630:G:T	F311L	1.000
1:193180632:A:G	F311L	1.000

dbSNP variants (sampled 300 via entrez): RS1000589387 (1:193182683 T>C), RS1000875810 (1:193182865 A>G), RS1001207084 (1:193184517 A>G), RS1001880314 (1:193183180 T>A,C), RS1001911975 (1:193188593 T>C), RS1002453142 (1:193183900 T>C,G), RS1002754208 (1:193185488 C>A), RS1002888924 (1:193185735 A>G,T), RS1003222847 (1:193187155 A>G,T), RS1003733025 (1:193179722 T>A), RS1004720100 (1:193182983 T>C), RS1004976866 (1:193178381 A>C,G), RS1005214806 (1:193188348 T>C), RS1005250460 (1:193179344 G>A), RS1005408636 (1:193185408 T>C)

Disease associations

OMIM: gene MIM:603018 | disease phenotypes: MIM:608266, MIM:145001, MIM:145000

GenCC curated gene-disease

Mondo (3): parathyroid gland carcinoma (MONDO:0012004), hyperparathyroidism 2 with jaw tumors (MONDO:0007768), hyperparathyroidism 1 (MONDO:0007767)

Orphanet (3): Parathyroid carcinoma (Orphanet:143), Hyperparathyroidism-jaw tumor syndrome (Orphanet:99880), Familial isolated hyperparathyroidism (Orphanet:99879)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004490_15	Cerebrospinal fluid t-tau:AB1-42 ratio	3.000000e-10
GCST004491_5	Cerebrospinal fluid t-tau levels	4.000000e-07
GCST009391_1280	Metabolite levels	8.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0004760	t-tau measurement
EFO:0010546	uridine measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564166	Hyperparathyroidism 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	decreases expression	2
lead acetate	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
triadimefon	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Catechin	affects cotreatment, decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Rotenone	decreases expression	1
Valproic Acid	affects expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Lactic Acid	increases expression	1
Acrylamide	increases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00037518	PHASE4	COMPLETED	A Study of an Investigational Medication for Severe Primary Hyperparathyroidism or Parathyroid Cancer
NCT04574947	PHASE4	COMPLETED	Lidocaine And Neuromonitoring in Thyroid Surgery
NCT01460030	PHASE3	COMPLETED	An Intra-individual Titration Study of KRN1493 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism
NCT03280264	PHASE3	COMPLETED	Phase 3 Study of KHK7580 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Primary Hyperparathyroidism
NCT00001277	PHASE2	COMPLETED	Studies of Elevated Parathyroid Activity
NCT00896454	PHASE2	COMPLETED	Study of Denosumab in the Treatment of Hypercalcemia of Malignancy in Subjects With Elevated Serum Calcium
NCT02834013	PHASE2	ACTIVE_NOT_RECRUITING	Nivolumab and Ipilimumab in Treating Patients With Rare Tumors
NCT04106843	PHASE2	WITHDRAWN	Radioactive Drug (177Lu-DOTATATE) for the Treatment of Locally Advanced, Metastatic, or Unresectable Rare Endocrine Cancers
NCT06638931	PHASE2	RECRUITING	Agnostic Therapy in Rare Solid Tumors
NCT00004074	PHASE1	COMPLETED	Interleukin-12 and Trastuzumab in Treating Patients With Cancer That Has High Levels of HER2/Neu
NCT00580320	PHASE1	COMPLETED	Safety Study of Dacarbazine and Bortezomib in Melanoma and Soft Tissue Sarcoma
NCT07444723	PHASE2/PHASE3	RECRUITING	Accuracy of 18F-Fluorocholine PET/MR and NeuroEXPLORER PET/CT Imaging for Localization of Parathyroid Tumors
NCT00001394	Not specified	COMPLETED	Using X-Ray Dye to Locate Hidden Parathyroid Tumors
NCT00068497	Not specified	COMPLETED	Gefitinib in Treating Patients With Metastatic or Unresectable Head and Neck Cancer or Non-Small Cell Lung Cancer
NCT00639405	Not specified	TERMINATED	Evaluation of MRI and SPECT Fusion Software to Localize Parathyroid Adenomas
NCT01005654	Not specified	RECRUITING	Prospective Comprehensive Molecular Analysis of Endocrine Neoplasms
NCT01776385	Not specified	COMPLETED	The ISET (Isolation by Size of Epithelial Tumor Cells) and the CellSearch Methods in Malignant Pleural Mesothelioma
NCT03039439	Not specified	RECRUITING	Molecular and Immunohistochemical Profiling of Tumors in Patients With Parathyroid Tumors
NCT03046524	Not specified	COMPLETED	Parathyroid Cancer Versus Atypical Parathyroid Neoplasm; Investigating Their Clinical Characteristics and Biological Behavior
NCT04028479	Not specified	COMPLETED	The Registry of Oncology Outcomes Associated With Testing and Treatment
NCT04299425	Not specified	COMPLETED	Evaluating Impact of NIRAF Detection for Identifying Parathyroid Glands During Parathyroidectomy
NCT04969926	Not specified	RECRUITING	Natural History Study of Parathyroid Disorders
NCT05022641	Not specified	COMPLETED	Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy
NCT05152927	Not specified	COMPLETED	Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy
NCT05556499	Not specified	NOT_YET_RECRUITING	The Bone-parathyroid Crosstalk in Primary Hyperparathyroidism
NCT05789680	Not specified	UNKNOWN	European Multicentric Study on Parathyroid Carcinoma
NCT06645951	Not specified	RECRUITING	Institution of an Italian Multicenter Database of Patients with Parathyroid Carcinoma or Atypical Parathyroid Adenoma
NCT06852144	Not specified	ENROLLING_BY_INVITATION	PET-TC in Thyroid Evaluation
NCT07043010	Not specified	NOT_YET_RECRUITING	WHITE CAP: Intra-operative Parathyroid Tissue Sensor (PTS)-Guided Assessment of Parathyroid Viability and Surgical Decision-Making
NCT07475780	Not specified	RECRUITING	Radiofrequency Ablation For Recurrent Parathyroid Carcinoma