B3GNT4
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Also known as B3GN-T4beta3Gn-T4
Summary
B3GNT4 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4, HGNC:15683) is a protein-coding gene on chromosome 12q24.31, encoding N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 (Q9C0J1). Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine.
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein.
Source: NCBI Gene 79369 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 137 total — 1 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_030765
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15683 |
| Approved symbol | B3GNT4 |
| Name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | B3GN-T4, beta3Gn-T4 |
| Ensembl gene | ENSG00000176383 |
| Ensembl biotype | protein_coding |
| OMIM | 605864 |
| Entrez | 79369 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000324189, ENST00000535274, ENST00000537991, ENST00000538257, ENST00000545141, ENST00000546192
RefSeq mRNA: 2 — MANE Select: NM_030765
NM_001330492, NM_030765
CCDS: CCDS81751, CCDS9227
Canonical transcript exons
ENST00000324189 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001285488 | 122203709 | 122203801 |
| ENSE00001414052 | 122206318 | 122208952 |
| ENSE00003818734 | 122204522 | 122204684 |
Expression profiles
Bgee: expression breadth ubiquitous, 181 present calls, max score 92.87.
FANTOM5 (CAGE): breadth broad, TPM avg 1.0555 / max 51.1071, expressed in 447 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128513 | 0.6531 | 334 |
| 128514 | 0.4024 | 235 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 92.87 | gold quality |
| olfactory bulb | UBERON:0002264 | 88.70 | gold quality |
| type B pancreatic cell | CL:0000169 | 86.29 | gold quality |
| secondary oocyte | CL:0000655 | 82.45 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.56 | gold quality |
| upper arm skin | UBERON:0004263 | 79.24 | gold quality |
| pancreatic ductal cell | CL:0002079 | 78.99 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.93 | gold quality |
| parotid gland | UBERON:0001831 | 78.36 | gold quality |
| cortical plate | UBERON:0005343 | 78.04 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 77.05 | gold quality |
| diaphragm | UBERON:0001103 | 76.93 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 76.53 | gold quality |
| prefrontal cortex | UBERON:0000451 | 76.31 | gold quality |
| triceps brachii | UBERON:0001509 | 75.57 | gold quality |
| quadriceps femoris | UBERON:0001377 | 75.48 | gold quality |
| vastus lateralis | UBERON:0001379 | 75.32 | gold quality |
| cerebellar cortex | UBERON:0002129 | 74.72 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 74.66 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 74.51 | gold quality |
| inferior olivary complex | UBERON:0002127 | 74.50 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 74.41 | gold quality |
| frontal cortex | UBERON:0001870 | 74.37 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 74.33 | silver quality |
| cerebellum | UBERON:0002037 | 74.32 | gold quality |
| thymus | UBERON:0002370 | 74.26 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 73.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 73.87 | gold quality |
| right frontal lobe | UBERON:0002810 | 73.79 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 73.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | no | 74.95 |
| E-ANND-3 | no | 1.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting B3GNT4, 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-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-4424 | 98.91 | 70.33 | 1145 |
| HSA-MIR-4715-5P | 97.62 | 67.47 | 506 |
| HSA-MIR-610 | 96.84 | 67.98 | 905 |
| HSA-MIR-4653-3P | 96.26 | 67.03 | 725 |
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | B3gnt4 | ENSMUSG00000029431 |
| rattus_norvegicus | B3gnt4 | ENSRNOG00000085730 |
| 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), B3GNT5 (ENSG00000176597), B3GNT8 (ENSG00000177191), B3GNT3 (ENSG00000179913), B3GALT5 (ENSG00000183778), B3GNT6 (ENSG00000198488), B3GALT9 (ENSG00000214654), B3GALT4 (ENSG00000235863), B3GNT9 (ENSG00000237172)
Protein
Protein identifiers
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 — Q9C0J1 (reviewed: Q9C0J1)
Alternative names: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
All UniProt accessions (2): Q9C0J1, A0A2R8YCM2
UniProt curated annotations — full annotation on UniProt →
Function. Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Mainly expressed in brain tissues such as whole brain, hippocampus, amygdala, cerebellum and caudate nucleus. Also expressed in colon, esophagus and kidney.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 31 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9C0J1-1 | 1 | yes |
| Q9C0J1-2 | 2 |
RefSeq proteins (2): NP_001317421, NP_110392* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002659 | Glyco_trans_31 | Family |
Pfam: PF01762
Catalyzed reactions (Rhea), 1 shown:
- a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-glucosamine = an N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP + H(+) (RHEA:14389)
UniProt features (14 total): sequence conflict 4, sequence variant 3, topological domain 2, chain 1, transmembrane region 1, region of interest 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9C0J1-F1 | 87.51 | 0.75 |
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 (1): 192
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022854 | Keratan sulfate biosynthesis |
| R-HSA-913709 | O-linked glycosylation of mucins |
| R-HSA-1430728 | Metabolism |
| R-HSA-1630316 | Glycosaminoglycan metabolism |
| R-HSA-1638074 | Keratan sulfate/keratin metabolism |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5173105 | O-linked glycosylation |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
MSigDB gene sets: 62 (showing top):
GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, SHEN_SMARCA2_TARGETS_DN, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, chr12q24, GOMF_BETA_1_3_GALACTOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_GALACTOSYLTRANSFERASE_ACTIVITY
GO Biological Process (5): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), keratan sulfate proteoglycan biosynthetic process (GO:0018146), poly-N-acetyllactosamine biosynthetic process (GO:0030311), obsolete protein glycosylation (GO:0006486)
GO Molecular Function (5): N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (GO:0008499), N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532), 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-7 pathways:
| Category | Pathways |
|---|---|
| Keratan sulfate/keratin metabolism | 1 |
| O-linked glycosylation | 1 |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
| Glycosaminoglycan metabolism | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glycoprotein biosynthetic process | 1 |
| protein O-linked glycosylation | 1 |
| proteoglycan biosynthetic process | 1 |
| keratan sulfate proteoglycan metabolic process | 1 |
| aminoglycan biosynthetic process | 1 |
| poly-N-acetyllactosamine metabolic process | 1 |
| UDP-galactosyltransferase activity | 1 |
| beta-1,3-galactosyltransferase activity | 1 |
| acetylglucosaminyltransferase activity | 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
474 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| B3GNT4 | TMEM171 | Q8WVE6 | 620 |
| B3GNT4 | UBE2Q2 | Q8WVN8 | 597 |
| B3GNT4 | A1CF | Q9NQ94 | 568 |
| B3GNT4 | PLAU | P00749 | 543 |
| B3GNT4 | TRIM46 | Q7Z4K8 | 541 |
| B3GNT4 | SFMBT1 | Q9UHJ3 | 497 |
| B3GNT4 | HNF4G | Q14541 | 446 |
| B3GNT4 | NTPCR | Q9BSD7 | 444 |
| B3GNT4 | BAZ1B | Q9UIG0 | 434 |
| B3GNT4 | B4GALT2 | O60909 | 432 |
| B3GNT4 | FAM222A | Q5U5X8 | 430 |
| B3GNT4 | CDK2AP1 | O14519 | 426 |
| B3GNT4 | SLC22A11 | Q9NSA0 | 423 |
| B3GNT4 | SLC17A1 | Q14916 | 418 |
| B3GNT4 | INHBB | P09529 | 415 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL4B | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ECEL1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| GOLM1 | B3GNT4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (5): B3GNT4 (Affinity Capture-MS), B3GNT4 (Affinity Capture-MS), B3GNT4 (Positive Genetic), B3GNT4 (Affinity Capture-RNA), B3GNT4 (Affinity Capture-MS)
ESM2 similar proteins: A7MB73, O00587, O09008, O09009, O09010, O12971, O12972, O19058, O97583, P04180, P17405, P21217, P52849, P52850, P56433, Q08758, Q0V8G3, Q0VD19, Q11128, Q11131, Q17QZ8, Q1RLK6, Q2KJ92, Q4R942, Q5IS64, Q5T4B2, Q63148, Q6IQX7, Q6XQG9, Q6ZMM2, Q8BH73, Q8HYJ4, Q8HYJ5, Q8HYJ7, Q8HZR3, Q8IZ52, Q8N135, Q8NES3, Q924T4, Q9BZG2
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
137 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 107 |
| Likely benign | 15 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 57611 | GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1 | Pathogenic |
| 3250381 | NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg) | Likely pathogenic |
SpliceAI
444 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:122203801:GGTA:G | donor_loss | 0.9900 |
| 12:122203803:T:G | donor_loss | 0.9900 |
| 12:122206401:G:GT | donor_gain | 0.9800 |
| 12:122208578:C:A | acceptor_loss | 0.9800 |
| 12:122208578:C:CC | acceptor_gain | 0.9800 |
| 12:122208578:CT:C | acceptor_loss | 0.9800 |
| 12:122208579:T:G | acceptor_loss | 0.9800 |
| 12:122203802:G:GG | donor_gain | 0.9700 |
| 12:122204653:G:T | donor_gain | 0.9700 |
| 12:122208575:CGC:C | acceptor_gain | 0.9700 |
| 12:122208580:G:C | acceptor_loss | 0.9500 |
| 12:122204653:G:GT | donor_gain | 0.9200 |
| 12:122208582:C:CT | acceptor_gain | 0.9100 |
| 12:122205724:T:A | donor_gain | 0.9000 |
| 12:122208573:TGCGC:T | acceptor_gain | 0.9000 |
| 12:122208436:T:TA | donor_gain | 0.8900 |
| 12:122204680:CAAAG:C | donor_loss | 0.8800 |
| 12:122204682:AAG:A | donor_loss | 0.8800 |
| 12:122204683:AGGTC:A | donor_loss | 0.8800 |
| 12:122204684:G:GC | donor_loss | 0.8800 |
| 12:122204686:T:A | donor_loss | 0.8800 |
| 12:122206312:TTGCA:T | acceptor_loss | 0.8800 |
| 12:122206313:TGCAG:T | acceptor_loss | 0.8800 |
| 12:122206314:GCAG:G | acceptor_loss | 0.8800 |
| 12:122206315:CAG:C | acceptor_loss | 0.8800 |
| 12:122206316:AG:A | acceptor_gain | 0.8800 |
| 12:122206317:GG:G | acceptor_gain | 0.8800 |
| 12:122203800:AG:A | donor_gain | 0.8700 |
| 12:122203801:GG:G | donor_gain | 0.8700 |
| 12:122204295:T:TA | donor_gain | 0.8700 |
AlphaMissense
2438 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:122206839:G:C | K196N | 0.995 |
| 12:122206839:G:T | K196N | 0.995 |
| 12:122207165:A:T | D305V | 0.994 |
| 12:122207165:A:G | D305G | 0.992 |
| 12:122207166:T:A | D305E | 0.992 |
| 12:122207166:T:G | D305E | 0.992 |
| 12:122207165:A:C | D305A | 0.991 |
| 12:122206626:G:C | K125N | 0.988 |
| 12:122206626:G:T | K125N | 0.988 |
| 12:122207029:T:C | Y260H | 0.988 |
| 12:122207096:T:A | V282D | 0.988 |
| 12:122206651:C:A | R134S | 0.987 |
| 12:122207032:T:C | F261L | 0.987 |
| 12:122207034:C:A | F261L | 0.987 |
| 12:122207034:C:G | F261L | 0.987 |
| 12:122207162:A:T | D304V | 0.987 |
| 12:122207164:G:C | D305H | 0.987 |
| 12:122206720:T:C | F157L | 0.986 |
| 12:122206722:C:A | F157L | 0.986 |
| 12:122206722:C:G | F157L | 0.986 |
| 12:122207030:A:G | Y260C | 0.986 |
| 12:122207225:T:C | F325S | 0.986 |
| 12:122207006:C:A | P252H | 0.985 |
| 12:122207296:C:G | H349D | 0.985 |
| 12:122206801:T:A | W184R | 0.984 |
| 12:122206801:T:C | W184R | 0.984 |
| 12:122206807:T:C | F186L | 0.983 |
| 12:122206809:C:A | F186L | 0.983 |
| 12:122206809:C:G | F186L | 0.983 |
| 12:122207090:G:A | G280E | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000342979 (12:122203752 C>A,T), RS1000839607 (12:122203989 C>T), RS1000992958 (12:122203941 C>G,T), RS1001178 (12:122206498 T>A,C), RS1001274768 (12:122204202 G>A), RS1001668300 (12:122205945 A>G), RS1001737809 (12:122202568 A>G), RS1001950631 (12:122206166 G>A,C), RS1002083709 (12:122208866 A>C), RS1002280663 (12:122207703 C>T), RS1002552024 (12:122207000 C>A,G,T), RS1002938470 (12:122205260 G>A,C,T), RS1003776980 (12:122202389 C>A), RS1004131039 (12:122208673 C>A,T), RS1004142403 (12:122208935 T>C)
Disease associations
OMIM: gene MIM:605864 | disease phenotypes: MIM:614152
GenCC curated gene-disease
Mondo (3): autosomal dominant nonsyndromic hearing loss 64 (MONDO:0013593), nonsyndromic genetic hearing loss (MONDO:0019497), hearing loss disorder (MONDO:0005365)
Orphanet (2): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare non-syndromic genetic deafness (Orphanet:87884)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001791_6 | Urate levels | 3.000000e-08 |
| GCST90020025_115 | Waist-to-hip ratio adjusted for BMI | 1.000000e-08 |
| GCST90020027_1193 | Waist-hip index | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D034381 | Hearing Loss | C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341 |
| C580334 | Nonsyndromic Deafness (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465353 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| 1-cyclopropyl-4-(4-((5-methyl-3-(3-(4-(trifluoromethoxy)phenyl)-1,2,4-oxadiazol-5-yl)-1H-pyrazol-1-yl)methyl)pyridin-2-yl)piperazine | decreases reaction, increases expression | 1 |
| fluorene-9-bisphenol | increases expression | 1 |
| abrine | decreases expression | 1 |
| licochalcone B | increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Amphotericin B | increases expression | 1 |
| Oxygen | decreases reaction, increases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Uric Acid | affects abundance | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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 |
|---|---|---|---|
| CHEMBL5345419 | Binding | Inhibition of B3GNT4 (unknown origin) using Beta-lactose and UDP-GlcNAc as substrate incubated for 1.5 to 2 hrs by UDP-Glo based analysis | Imidazolone as an Amide Bioisostere in the Development of β-1,3-N-Acetylglucosaminyltransferase 2 (B3GNT2) Inhibitors. — J Med Chem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SE48 | HAP1 B3GNT4 (-) 1 | Cancer cell line | Male |
| CVCL_XL87 | HAP1 B3GNT4 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00205881 | PHASE4 | COMPLETED | Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System |
| NCT00331539 | PHASE4 | UNKNOWN | Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant |
| NCT00424307 | PHASE4 | UNKNOWN | Bilateral Cochlear Implant Benefit in Young Children |
| NCT00765635 | PHASE4 | COMPLETED | Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal |
| NCT03321006 | PHASE4 | COMPLETED | Treating Hearing Loss to Improve Mood and Cognition in Older Adults |
| NCT01499901 | PHASE3 | WITHDRAWN | Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children |
| NCT02561091 | PHASE3 | COMPLETED | AM-111 in the Treatment of Acute Inner Ear Hearing Loss |
| NCT03331627 | PHASE3 | COMPLETED | Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL |
| NCT05532657 | PHASE3 | ACTIVE_NOT_RECRUITING | ACHIEVE Brain Health Follow-Up Study |
| NCT00013455 | PHASE2 | COMPLETED | Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting |
| NCT00323427 | PHASE2 | COMPLETED | Clinical Trial of the Living Well With Hearing Loss Workshop |
| NCT00552786 | PHASE2 | COMPLETED | Antioxidation Medication for Noise-induced Hearing Loss |
| NCT00802425 | PHASE2 | COMPLETED | Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss |
| NCT01139281 | PHASE2 | COMPLETED | The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans |
| NCT01451853 | PHASE2 | UNKNOWN | SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss |
| NCT01588925 | PHASE2 | COMPLETED | Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation |
| NCT01773278 | PHASE2 | RECRUITING | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) |
| NCT02832128 | PHASE2 | COMPLETED | Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire) |
| NCT04915183 | PHASE2 | RECRUITING | Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer |
| NCT05258773 | PHASE2 | COMPLETED | Evaluation of the Presence of SENS-401 in the Perilymph |
| NCT06340633 | PHASE2 | RECRUITING | SPI-1005 in Adults Receiving Cochlear Implant |
| NCT00582946 | PHASE1 | COMPLETED | Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding |
| NCT00584155 | PHASE1 | WITHDRAWN | Protection From Cisplatin Ototoxicity by Lactated Ringers |
| NCT01206829 | PHASE1 | UNKNOWN | Hearing Impairment, Cognitive Therapy and Coping |
| NCT01256229 | PHASE1 | COMPLETED | Outcomes In Children With Developmental Delay And Deafness |
| NCT01343394 | PHASE1 | WITHDRAWN | Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children |
| NCT01452607 | PHASE1 | COMPLETED | Study to Evaluate the Safety and Pharmacokinetics of SPI-1005 |
| NCT02259595 | PHASE1 | COMPLETED | Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC |
| NCT04041440 | PHASE1 | COMPLETED | Speech Recognition Training in Children With Hearing Loss |
| NCT07218913 | PHASE1 | RECRUITING | Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors |
| NCT01802190 | Not specified | TERMINATED | Prevalence of POU4F3 and SLC17A8 Mutations |
| NCT00486577 | PHASE2/PHASE3 | COMPLETED | Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus |
| NCT00789061 | PHASE2/PHASE3 | UNKNOWN | Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation |
| NCT01423409 | PHASE2/PHASE3 | COMPLETED | Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People |
| NCT05786378 | PHASE2/PHASE3 | UNKNOWN | Assessment of The Efficacy of Intratympanic Platelet Rich Plasma for Treatment of Sensorineural Hearing Loss. |
| NCT01108601 | PHASE1/PHASE2 | UNKNOWN | Transtympanic Ringer’s Lactate for the Prevention of Cisplatin Ototoxicity |
| NCT01621256 | PHASE1/PHASE2 | COMPLETED | Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss |
| NCT06370351 | PHASE1/PHASE2 | RECRUITING | A Phase I/II Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations |
| NCT06545175 | PHASE1/PHASE2 | RECRUITING | Intracochlear Application of VSF1.01 for the Reduction of Cochlear Implant Surgery Related Trauma |
| NCT07304024 | PHASE1/PHASE2 | RECRUITING | A Treatment for a Form of Age-Related Central Auditory Processing Disorder Consisting of Clemastine Fumarate Plus Engineered Sound |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant nonsyndromic hearing loss 64, hearing loss disorder