B3GALT5
gene geneOn this page
Also known as beta3Gal-T5B3GalT-VGLCT5B3T5
Summary
B3GALT5 (beta-1,3-galactosyltransferase 5, HGNC:920) is a protein-coding gene on chromosome 21q22.2, encoding Beta-1,3-galactosyltransferase 5 (Q9Y2C3). Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure.
This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene.
Source: NCBI Gene 10317 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 13 total — 2 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001356336
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:920 |
| Approved symbol | B3GALT5 |
| Name | beta-1,3-galactosyltransferase 5 |
| Location | 21q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | beta3Gal-T5, B3GalT-V, GLCT5, B3T5 |
| Ensembl gene | ENSG00000183778 |
| Ensembl biotype | protein_coding |
| OMIM | 604066 |
| Entrez | 10317 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 25 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000343118, ENST00000380618, ENST00000380620, ENST00000398714, ENST00000475838, ENST00000615480, ENST00000682542, ENST00000682818, ENST00000683344, ENST00000684187, ENST00000684495, ENST00000852636, ENST00000852637, ENST00000852638, ENST00000852639, ENST00000852640, ENST00000852641, ENST00000852642, ENST00000852643, ENST00000852644, ENST00000852645, ENST00000852646, ENST00000852647, ENST00000852648, ENST00000852649, ENST00000852650, ENST00000941716
RefSeq mRNA: 8 — MANE Select: NM_001356336
NM_001278650, NM_001356336, NM_001356338, NM_001356339, NM_006057, NM_033170, NM_033171, NM_033172
CCDS: CCDS13667
Canonical transcript exons
ENST00000684187 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001485655 | 39659753 | 39659912 |
| ENSE00001485657 | 39646392 | 39646622 |
| ENSE00003704093 | 39660560 | 39673137 |
| ENSE00003719844 | 39612940 | 39613067 |
Expression profiles
Bgee: expression breadth ubiquitous, 146 present calls, max score 96.28.
FANTOM5 (CAGE): breadth broad, TPM avg 1.3102 / max 169.8261, expressed in 359 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 189179 | 0.7044 | 250 |
| 189178 | 0.2296 | 111 |
| 189185 | 0.1848 | 28 |
| 189180 | 0.0695 | 38 |
| 189181 | 0.0630 | 33 |
| 189184 | 0.0589 | 4 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| palpebral conjunctiva | UBERON:0001812 | 96.28 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.20 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.91 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.63 | gold quality |
| rectum | UBERON:0001052 | 92.30 | gold quality |
| duodenum | UBERON:0002114 | 88.12 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.42 | gold quality |
| amniotic fluid | UBERON:0000173 | 85.08 | gold quality |
| sperm | CL:0000019 | 83.19 | silver quality |
| male germ cell | CL:0000015 | 80.40 | silver quality |
| jejunum | UBERON:0002115 | 80.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.76 | gold quality |
| ileal mucosa | UBERON:0000331 | 78.88 | silver quality |
| small intestine | UBERON:0002108 | 78.39 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 77.99 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.74 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 77.66 | gold quality |
| mammary duct | UBERON:0001765 | 77.08 | silver quality |
| oral cavity | UBERON:0000167 | 75.36 | gold quality |
| transverse colon | UBERON:0001157 | 75.32 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 74.82 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 74.75 | silver quality |
| islet of Langerhans | UBERON:0000006 | 74.62 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 74.53 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 74.31 | silver quality |
| gall bladder | UBERON:0002110 | 73.94 | gold quality |
| intestine | UBERON:0000160 | 72.35 | gold quality |
| pancreatic ductal cell | CL:0002079 | 71.86 | silver quality |
| nasal cavity mucosa | UBERON:0001826 | 70.49 | gold quality |
| large intestine | UBERON:0000059 | 70.39 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 22.95 |
| E-ANND-3 | yes | 6.54 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CDX1, CDX2, HNF1A, HNF1B
miRNA regulators (miRDB)
83 targeting B3GALT5, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
Literature-anchored findings (GeneRIF, showing 16)
- case study of the endogenous retrovirus long terminal repeat promoter of this enzyme (PMID:16112824)
- the enhanced expression of beta 3GalT5 is sufficient to promote in vivo extension of type 1 chains by furnishing a significantly higher amount of type 1 chain precursors relative to competing type 2 chains. (PMID:19136585)
- We found beta3Gal-T4 and T5 enzymatic activity in ovarian cancer tissues, indicating that these enzymes are expressed at least in ovarian cancer (PMID:19225246)
- The B3GALT5 promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
- Chromatin immunoprecipitation assays on beta3Gal-T5 promoter showed that histone H3K4 trymethylation, H3K79 dimethylation, and H3K9-14 acetylation are high in cells expressing the transcript. (PMID:22001559)
- Data conclude that HNF1alpha/beta are necessary but insufficient to activate and regulate B3GALT5 LTR transcription, which depends on unknown regulatory elements that are active when methylated and located outside of and far from the LTR promoter. (PMID:24128890)
- CA19.9 appears as a physiological product whose synthesis strongly depends on the tissue specific and epigenetically-regulated expression of B3GALT5 and ST3GAL3. (PMID:27535614)
- In patients with hepatocellular carcinoma, Kaplan Meier survival analysis showed significantly shorter relapse-free survival for those with high expression of B3GALT5 and shorter overall survival. (PMID:28883415)
- Here we show that the expression of beta3GalT5 significantly correlates with tumor progression and poor survival in patients, and the globo-series GSLs in breast cancer cells form a complex in membrane lipid raft with caveolin-1 (CAV1) and focal adhesion kinase (FAK) which then interact with AKT and receptor-interacting protein kinase (RIP), respectively (PMID:30808745)
- SSEA3 and Sialyl Lewis a Glycan Expression Is Controlled by B3GALT5 LTR through Lamin A-NFYA and SIRT1-STAT3 Signaling in Human ES Cells. (PMID:31936807)
- Serum level of long noncoding RNA B3GALT5-AS1 as a diagnostic biomarker of colorectal cancer. (PMID:32207329)
- B3GALT5 knockout alters gycosphingolipid profile and facilitates transition to human naive pluripotency. (PMID:33087559)
- High B3GALT5 expression confers poor clinical outcome and contributes to tumor progression and metastasis in breast cancer. (PMID:33413566)
- B3galt5 deficiency attenuates hepatocellular carcinoma by suppressing mTOR/p70s6k-mediated glycolysis. (PMID:36495345)
- High expression of B3GALT5 suppresses the galectin-4-mediated peritoneal dissemination of poorly differentiated gastric cancer cells. (PMID:39163480)
- Highly expressed B3GALT5-AS1 contributes to gastric cancer progression by recruiting WDR5 to mediate B3GALT5 and regulating beta-catenin/ZEB1 axis. (PMID:39224045)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | b3galt10.1 | ENSDARG00000061432 |
| danio_rerio | b3galt10.2 | ENSDARG00000061496 |
| danio_rerio | b3galt8 | ENSDARG00000097795 |
| danio_rerio | ENSDARG00000109569 | |
| mus_musculus | B3galt5 | ENSMUSG00000074892 |
| rattus_norvegicus | B3galt5 | ENSRNOG00000030983 |
| 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), B3GALT1 (ENSG00000172318), B3GALT6 (ENSG00000176022), B3GNT4 (ENSG00000176383), B3GNT5 (ENSG00000176597), B3GNT8 (ENSG00000177191), B3GNT3 (ENSG00000179913), B3GNT6 (ENSG00000198488), B3GALT9 (ENSG00000214654), B3GALT4 (ENSG00000235863), B3GNT9 (ENSG00000237172)
Protein
Protein identifiers
Beta-1,3-galactosyltransferase 5 — Q9Y2C3 (reviewed: Q9Y2C3)
Alternative names: Beta-3-Gx-T5, UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5
All UniProt accessions (2): A0A0A0MS93, Q9Y2C3
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in stomach, jejunum, colon, pancreas, small intestine, testis and gastrointestinal and pancreatic cancer cell lines. Hardly detected in lung, liver, adrenal gland and peripheral blood leukocytes.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 31 family.
RefSeq proteins (8): NP_001265579, NP_001343265, NP_001343267, NP_001343268, NP_006048, NP_149360, NP_149361, NP_149362 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002659 | Glyco_trans_31 | Family |
Pfam: PF01762
Catalyzed reactions (Rhea), 1 shown:
- a globoside Gb4Cer (d18:1(4E)) + UDP-alpha-D-galactose = a globoside GalGb4Cer (d18:1(4E)) + UDP + H(+) (RHEA:41996)
UniProt features (13 total): sequence conflict 3, glycosylation site 3, sequence variant 3, topological domain 2, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8ZWP | X-RAY DIFFRACTION | 1.86 |
| 8ZWW | X-RAY DIFFRACTION | 1.87 |
| 8ZWR | X-RAY DIFFRACTION | 1.94 |
| 8ZWY | X-RAY DIFFRACTION | 1.95 |
| 8ZX3 | X-RAY DIFFRACTION | 2.09 |
| 8ZX9 | X-RAY DIFFRACTION | 2.3 |
| 8ZX2 | X-RAY DIFFRACTION | 2.4 |
| 8ZX8 | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2C3-F1 | 92.69 | 0.83 |
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 (3): 130, 174, 231
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: 121 (showing top):
BROWNE_HCMV_INFECTION_4HR_UP, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, MODULE_99, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_BIOSYNTHETIC_PROCESS, SABATES_COLORECTAL_ADENOMA_DN, chr21q22, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES
GO Biological Process (7): protein O-linked glycosylation (GO:0006493), lipid metabolic process (GO:0006629), glycoprotein biosynthetic process (GO:0009101), oligosaccharide biosynthetic process (GO:0009312), response to bacterium (GO:0009617), obsolete protein glycosylation (GO:0006486), 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 (4): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), 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 |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| glycoprotein biosynthetic process | 1 |
| primary metabolic process | 1 |
| macromolecule biosynthetic process | 1 |
| glycoprotein metabolic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| oligosaccharide metabolic process | 1 |
| carbohydrate biosynthetic process | 1 |
| response to other organism | 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 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| B3GALT5 | C1GALT1 | Q9NS00 | 944 |
| B3GALT5 | FUT1 | P19526 | 633 |
| B3GALT5 | FUT2 | Q10981 | 583 |
| B3GALT5 | ST6GALNAC6 | Q969X2 | 551 |
| B3GALT5 | B4GALT4 | O60513 | 545 |
| B3GALT5 | FUT3 | P21217 | 537 |
| B3GALT5 | GCNT3 | O95395 | 534 |
| B3GALT5 | LCA5L | O95447 | 529 |
| B3GALT5 | A4GALT | Q9NPC4 | 522 |
| B3GALT5 | ST3GAL5 | Q9UNP4 | 518 |
| B3GALT5 | B4GALT1 | P15291 | 511 |
| B3GALT5 | B4GALNT2 | Q8NHY0 | 507 |
| B3GALT5 | PSMG1 | O95456 | 507 |
| B3GALT5 | ST3GAL2 | Q16842 | 495 |
| B3GALT5 | FUT9 | Q9Y231 | 491 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CLEC2D | B3GALT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DEFB103A | B3GALT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OR6N1 | B3GALT5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| B3GALT5 | TTI1 | psi-mi:“MI:0914”(association) | 0.350 |
| B3GALT5 | CLEC2D | psi-mi:“MI:0915”(physical association) | 0.000 |
| B3GALT5 | DEFB103A | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (25): B3GALT5 (Two-hybrid), B3GALT5 (Two-hybrid), B3GALT5 (Two-hybrid), SLC30A6 (Affinity Capture-MS), SLC30A1 (Affinity Capture-MS), BDH1 (Affinity Capture-MS), RMND1 (Affinity Capture-MS), FAIM (Affinity Capture-MS), CANX (Affinity Capture-MS), P2RX4 (Affinity Capture-MS), PODXL2 (Affinity Capture-MS), GAL (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), TTI1 (Affinity Capture-MS), FAM3C (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
13 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 8 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146086 | GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 | Pathogenic |
| 395335 | GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1 | Pathogenic |
| 443777 | GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 | Likely pathogenic |
SpliceAI
1583 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:39556511:G:GG | donor_gain | 1.0000 |
| 21:39605223:GCA:G | donor_gain | 1.0000 |
| 21:39605226:G:GG | donor_gain | 1.0000 |
| 21:39556508:AAT:A | donor_gain | 0.9900 |
| 21:39556508:AATG:A | donor_loss | 0.9900 |
| 21:39556510:TGTG:T | donor_loss | 0.9900 |
| 21:39556512:T:A | donor_loss | 0.9900 |
| 21:39558274:T:A | acceptor_gain | 0.9900 |
| 21:39578848:GGAA:G | donor_gain | 0.9900 |
| 21:39605088:TTGCA:T | acceptor_loss | 0.9900 |
| 21:39605089:TGCA:T | acceptor_loss | 0.9900 |
| 21:39605090:GCA:G | acceptor_loss | 0.9900 |
| 21:39605091:CA:C | acceptor_loss | 0.9900 |
| 21:39605092:A:AT | acceptor_loss | 0.9900 |
| 21:39605194:C:T | donor_gain | 0.9900 |
| 21:39605221:CCGCA:C | donor_gain | 0.9900 |
| 21:39659751:A:AG | acceptor_gain | 0.9900 |
| 21:39659751:AGT:A | acceptor_gain | 0.9900 |
| 21:39659752:G:GG | acceptor_gain | 0.9900 |
| 21:39659752:GT:G | acceptor_gain | 0.9900 |
| 21:39659752:GTG:G | acceptor_gain | 0.9900 |
| 21:39659913:G:GG | donor_gain | 0.9900 |
| 21:39661527:A:G | donor_gain | 0.9900 |
| 21:39556507:AAAT:A | donor_gain | 0.9800 |
| 21:39556509:AT:A | donor_gain | 0.9800 |
| 21:39556513:GAG:G | donor_loss | 0.9800 |
| 21:39578838:AACCT:A | donor_gain | 0.9800 |
| 21:39578843:G:GG | donor_gain | 0.9800 |
| 21:39605092:A:AG | acceptor_gain | 0.9800 |
| 21:39605093:G:GG | acceptor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000052312 (21:39637787 T>G), RS1000112770 (21:39636533 A>G), RS1000126124 (21:39656088 C>G,T), RS1000174079 (21:39618156 TA>T), RS1000294625 (21:39653332 A>G), RS1000305088 (21:39614173 G>A,T), RS1000337364 (21:39620500 T>C,G), RS1000358514 (21:39664418 C>T), RS1000367199 (21:39620713 A>G,T), RS1000369340 (21:39670201 C>T), RS1000401297 (21:39662278 C>A), RS1000511691 (21:39649760 G>T), RS1000520135 (21:39669792 C>G,T), RS1000572652 (21:39627830 T>A,C), RS1000609830 (21:39656321 T>C)
Disease associations
OMIM: gene MIM:604066 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000854_1 | Suicide risk | 6.000000e-06 |
| GCST003121_8 | Alcohol dependence | 5.000000e-06 |
| GCST003434_2 | Obsessive-compulsive symptoms | 4.000000e-07 |
| GCST005803_16 | Corneal astigmatism | 9.000000e-06 |
| GCST009391_1597 | Metabolite levels | 8.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004321 | attempted suicide |
| EFO:0007802 | obsessive-compulsive symptom measurement |
| EFO:1002040 | Corneal astigmatism |
| EFO:0010376 | phosphatidylcholine 34:2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2321635 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, affects methylation, increases expression | 3 |
| kaempferol | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Arsenic | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Chlordecone | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tamoxifen | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Copper Sulfate | decreases expression | 1 |
| Apigenin | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2329442 | Binding | Inhibition of human recombinant soluble His-tagged beta3-GalT5 expressed in insect cells using GlcNAcbeta-Bn as substrate at 0.5 mM after 1 hr relative to control | Selective inhibition of glycosyltransferases by bivalent imidazolium salts. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): mental disorder