B3GALT1
geneOn this page
Also known as beta3Gal-T1
Summary
B3GALT1 (beta-1,3-galactosyltransferase 1, HGNC:916) is a protein-coding gene on chromosome 2q24.3, encoding Beta-1,3-galactosyltransferase 1 (Q9Y5Z6). Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-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 is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose.
Source: NCBI Gene 8708 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 47 total — 5 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_020981
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:916 |
| Approved symbol | B3GALT1 |
| Name | beta-1,3-galactosyltransferase 1 |
| Location | 2q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | beta3Gal-T1 |
| Ensembl gene | ENSG00000172318 |
| Ensembl biotype | protein_coding |
| OMIM | 603093 |
| Entrez | 8708 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000392690, ENST00000970731
RefSeq mRNA: 1 — MANE Select: NM_020981
NM_020981
CCDS: CCDS2227
Canonical transcript exons
ENST00000392690 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001512774 | 167868811 | 167874045 |
| ENSE00003929445 | 167490177 | 167490277 |
| ENSE00003930584 | 167646909 | 167646966 |
| ENSE00003933623 | 167818672 | 167818793 |
| ENSE00003934813 | 167293001 | 167293334 |
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 85.68.
FANTOM5 (CAGE): breadth broad, TPM avg 3.6884 / max 163.6229, expressed in 568 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23500 | 2.9231 | 521 |
| 23501 | 0.7653 | 276 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 85.68 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 76.28 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.09 | gold quality |
| ganglionic eminence | UBERON:0004023 | 75.80 | gold quality |
| ventricular zone | UBERON:0003053 | 74.59 | gold quality |
| gastrocnemius | UBERON:0001388 | 73.58 | gold quality |
| nucleus accumbens | UBERON:0001882 | 73.18 | gold quality |
| muscle of leg | UBERON:0001383 | 73.11 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 72.88 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 72.52 | gold quality |
| prefrontal cortex | UBERON:0000451 | 72.37 | gold quality |
| rectum | UBERON:0001052 | 71.79 | gold quality |
| caudate nucleus | UBERON:0001873 | 71.58 | gold quality |
| putamen | UBERON:0001874 | 70.97 | gold quality |
| right frontal lobe | UBERON:0002810 | 70.81 | gold quality |
| amygdala | UBERON:0001876 | 69.70 | gold quality |
| ileal mucosa | UBERON:0000331 | 68.89 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 68.14 | gold quality |
| neocortex | UBERON:0001950 | 67.69 | gold quality |
| tibialis anterior | UBERON:0001385 | 67.33 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 66.67 | gold quality |
| cerebellar cortex | UBERON:0002129 | 66.48 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 66.40 | gold quality |
| frontal cortex | UBERON:0001870 | 66.39 | gold quality |
| transverse colon | UBERON:0001157 | 65.79 | gold quality |
| hypothalamus | UBERON:0001898 | 65.50 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 65.49 | gold quality |
| cerebellum | UBERON:0002037 | 64.67 | gold quality |
| cerebral cortex | UBERON:0000956 | 64.62 | gold quality |
| right uterine tube | UBERON:0001302 | 64.14 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 74.82 |
| E-GEOD-109979 | no | 554.92 |
| E-CURD-97 | no | 45.29 |
| E-ANND-3 | no | 4.31 |
| E-CURD-112 | no | 2.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
86 targeting B3GALT1, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| 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-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
Literature-anchored findings (GeneRIF, showing 1)
- A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P1 [k] phenotype. (PMID:37283178)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | b3galt1a | ENSDARG00000079700 |
| mus_musculus | B3galt1 | ENSMUSG00000034780 |
| rattus_norvegicus | B3galt1 | ENSRNOG00000007625 |
| drosophila_melanogaster | brn | FBGN0000221 |
| caenorhabditis_elegans | WBGENE00000270 | |
| caenorhabditis_elegans | WBGENE00007096 | |
| caenorhabditis_elegans | WBGENE00017653 |
Paralogs (15): B3GNT7 (ENSG00000156966), B3GALT2 (ENSG00000162630), B3GALNT2 (ENSG00000162885), B3GALNT1 (ENSG00000169255), B3GNT2 (ENSG00000170340), 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 1 — Q9Y5Z6 (reviewed: Q9Y5Z6)
Alternative names: UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1
All UniProt accessions (1): Q9Y5Z6
UniProt curated annotations — full annotation on UniProt →
Function. Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. 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 brain and colon mucosa and to a lesser extent in colon adenocarcinoma cells.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 31 family.
RefSeq proteins (1): NP_066191* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002659 | Glyco_trans_31 | Family |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
Pfam: PF01762
Enzyme classification (BRENDA):
- EC 2.4.1.134 — galactosylxylosylprotein 3-beta-galactosyltransferase (BRENDA: 6 organisms, 19 substrates, 0 inhibitors, 2 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| PYRIDINE 3-O-BETA-GALACTOSIDE | 100 | 1 |
| UDPGALACTOSE | 1.05 | 1 |
Catalyzed reactions (Rhea), 2 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)
- 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 (6 total): topological domain 2, glycosylation site 2, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5Z6-F1 | 89.11 | 0.80 |
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 (2): 47, 151
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: 94 (showing top):
GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, chr2q24, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_CERAMIDE_METABOLIC_PROCESS, GOBP_LIPOSACCHARIDE_METABOLIC_PROCESS, GOBP_MEMBRANE_LIPID_METABOLIC_PROCESS, GTCAGGA_MIR378, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES
GO Biological Process (8): protein O-linked glycosylation (GO:0006493), glucosylceramide metabolic process (GO:0006678), oligosaccharide biosynthetic process (GO:0009312), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), galactosylceramide biosynthetic process (GO:0006682), obsolete lipid glycosylation (GO:0030259), carbohydrate derivative biosynthetic process (GO:1901137)
GO Molecular Function (4): N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (GO:0008499), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), hexosyltransferase activity (GO:0016758)
GO Cellular Component (3): Golgi membrane (GO:0000139), membrane (GO:0016020), Golgi apparatus (GO:0005794)
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 |
| 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 |
| catalytic activity | 1 |
| transferase activity | 1 |
| glycosyltransferase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
638 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| B3GALT1 | C1GALT1 | Q9NS00 | 877 |
| B3GALT1 | B4GALT1 | P15291 | 847 |
| B3GALT1 | B4GALNT2 | Q8NHY0 | 846 |
| B3GALT1 | A4GALT | Q9NPC4 | 833 |
| B3GALT1 | WDR46 | O15213 | 763 |
| B3GALT1 | RPS18 | P25232 | 633 |
| B3GALT1 | B4GALT2 | O60909 | 515 |
| B3GALT1 | FUT6 | P51993 | 505 |
| B3GALT1 | LALBA | P00709 | 492 |
| B3GALT1 | ST6GALNAC6 | Q969X2 | 492 |
| B3GALT1 | FUT1 | P19526 | 491 |
| B3GALT1 | B4GALT4 | O60513 | 490 |
| B3GALT1 | ST3GAL3 | Q11203 | 461 |
| B3GALT1 | A3GALT2 | U3KPV4 | 454 |
| B3GALT1 | B4GALT5 | O43286 | 438 |
IntAct
0 interactions, top by confidence:
BioGRID (3): SLC35A2 (Affinity Capture-Western), B3GALT1 (Protein-peptide), B3GALT1 (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
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 1 |
| Uncertain significance | 35 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 144471 | GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 | Pathogenic |
| 4070970 | NM_020981.4(B3GALT1):c.402C>G (p.Ser134Arg) | Pathogenic |
| 442396 | GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 | Pathogenic |
| 442551 | GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1 | Pathogenic |
| 981210 | GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 | Pathogenic |
| 493569 | GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 | Likely pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
2178 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:167869319:C:A | R94S | 1.000 |
| 2:167869319:C:G | R94G | 1.000 |
| 2:167869320:G:C | R94P | 1.000 |
| 2:167869332:G:C | R98T | 1.000 |
| 2:167869332:G:T | R98I | 1.000 |
| 2:167869333:A:C | R98S | 1.000 |
| 2:167869333:A:T | R98S | 1.000 |
| 2:167869455:A:T | D139V | 1.000 |
| 2:167869494:T:C | L152P | 1.000 |
| 2:167869503:A:T | K155I | 1.000 |
| 2:167869504:A:C | K155N | 1.000 |
| 2:167869504:A:T | K155N | 1.000 |
| 2:167869523:T:A | W162R | 1.000 |
| 2:167869523:T:C | W162R | 1.000 |
| 2:167869540:T:G | C167W | 1.000 |
| 2:167869568:G:C | D177H | 1.000 |
| 2:167869569:A:C | D177A | 1.000 |
| 2:167869569:A:T | D177V | 1.000 |
| 2:167869575:A:C | D179A | 1.000 |
| 2:167869575:A:G | D179G | 1.000 |
| 2:167869575:A:T | D179V | 1.000 |
| 2:167869652:G:C | G205R | 1.000 |
| 2:167869653:G:A | G205D | 1.000 |
| 2:167869696:G:C | K219N | 1.000 |
| 2:167869696:G:T | K219N | 1.000 |
| 2:167869697:T:A | W220R | 1.000 |
| 2:167869697:T:C | W220R | 1.000 |
| 2:167869699:G:C | W220C | 1.000 |
| 2:167869699:G:T | W220C | 1.000 |
| 2:167869742:T:C | F235L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007542 (2:167684456 A>G), RS1000027781 (2:167533981 T>C), RS1000029332 (2:167291205 T>C), RS1000035139 (2:167419017 T>C), RS1000036628 (2:167718972 A>G), RS1000039764 (2:167696247 G>C,T), RS1000050715 (2:167531117 T>C), RS1000056231 (2:167490800 A>T), RS1000062283 (2:167725489 C>A,G), RS1000063779 (2:167378982 G>C,T), RS1000065490 (2:167689600 G>A,T), RS1000072949 (2:167570858 A>G), RS1000074030 (2:167767766 C>G), RS1000079684 (2:167419916 T>G), RS1000083104 (2:167844555 C>A,G,T)
Disease associations
OMIM: gene MIM:603093 | disease phenotypes: MIM:143890
GenCC curated gene-disease
Mondo (3): prostate cancer (MONDO:0008315), hypercholesterolemia, familial, 1 (MONDO:0007750), 2q24 microdeletion syndrome (MONDO:0015566)
Orphanet (3): Familial prostate cancer (Orphanet:1331), Homozygous familial hypercholesterolemia (Orphanet:391665), Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion (Orphanet:1617)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_577 | Obesity-related traits | 2.000000e-06 |
| GCST006479_3 | Diverticular disease | 6.000000e-06 |
| GCST006950_49 | Feeling worry | 9.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
| EFO:0009959 | diverticular disease |
| EFO:0009589 | worry measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C538316 | Chromosome 2, monosomy 2q24 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2321634 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2329327 | Binding | Inhibition of human recombinant soluble His-tagged beta3-GalT1 expressed in insect cells using GlcNAcbeta-Bn as substrate at 0.5 mM after 1 hr in presence of phosphatidylcholine | Selective inhibition of glycosyltransferases by bivalent imidazolium salts. — Bioorg Med Chem |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): 2q24 microdeletion syndrome, hypercholesterolemia, familial, 1