GCNT4
gene geneOn this page
Also known as C2GNT3
Summary
GCNT4 (glucosaminyl (N-acetyl) transferase 4, HGNC:17973) is a protein-coding gene on chromosome 5q13.3, encoding Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 (Q9P109). Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis.
Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in O-glycan processing and carbohydrate metabolic process. Predicted to act upstream of or within several processes, including inter-male aggressive behavior; neutrophil homeostasis; and thyroid hormone metabolic process. Predicted to be located in Golgi membrane.
Source: NCBI Gene 51301 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 58 total
- MANE Select transcript:
NM_001366737
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17973 |
| Approved symbol | GCNT4 |
| Name | glucosaminyl (N-acetyl) transferase 4 |
| Location | 5q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | C2GNT3 |
| Ensembl gene | ENSG00000176928 |
| Ensembl biotype | protein_coding |
| OMIM | 616782 |
| Entrez | 51301 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 9 protein_coding
ENST00000322348, ENST00000652361, ENST00000856429, ENST00000856430, ENST00000856431, ENST00000856432, ENST00000856433, ENST00000856434, ENST00000913096
RefSeq mRNA: 1 — MANE Select: NM_001366737
NM_001366737
CCDS: CCDS4026
Canonical transcript exons
ENST00000652361 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002030034 | 75052169 | 75052227 |
| ENSE00002068538 | 75052429 | 75052558 |
| ENSE00002073422 | 75047897 | 75048037 |
| ENSE00003844676 | 75025346 | 75030038 |
Expression profiles
Bgee: expression breadth ubiquitous, 156 present calls, max score 83.52.
FANTOM5 (CAGE): breadth broad, TPM avg 0.7370 / max 39.9712, expressed in 289 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62108 | 0.6229 | 248 |
| 62107 | 0.1140 | 56 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 83.52 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.32 | gold quality |
| body of stomach | UBERON:0001161 | 76.69 | gold quality |
| stromal cell of endometrium | CL:0002255 | 76.22 | gold quality |
| gall bladder | UBERON:0002110 | 76.17 | gold quality |
| stomach | UBERON:0000945 | 74.97 | gold quality |
| pancreas | UBERON:0001264 | 73.70 | gold quality |
| duodenum | UBERON:0002114 | 72.91 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 72.43 | gold quality |
| small intestine | UBERON:0002108 | 71.79 | gold quality |
| prefrontal cortex | UBERON:0000451 | 71.15 | gold quality |
| lymph node | UBERON:0000029 | 70.53 | gold quality |
| body of pancreas | UBERON:0001150 | 70.42 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 70.26 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 70.16 | gold quality |
| popliteal artery | UBERON:0002250 | 69.48 | gold quality |
| tibial artery | UBERON:0007610 | 69.48 | gold quality |
| lower esophagus | UBERON:0013473 | 69.45 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 69.44 | gold quality |
| aorta | UBERON:0000947 | 68.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 68.12 | gold quality |
| fundus of stomach | UBERON:0001160 | 68.02 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 67.87 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 67.53 | gold quality |
| thoracic aorta | UBERON:0001515 | 67.05 | gold quality |
| ascending aorta | UBERON:0001496 | 66.93 | gold quality |
| right frontal lobe | UBERON:0002810 | 66.78 | gold quality |
| right coronary artery | UBERON:0001625 | 66.75 | gold quality |
| left coronary artery | UBERON:0001626 | 66.59 | gold quality |
| vermiform appendix | UBERON:0001154 | 66.51 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.26 |
| E-MTAB-6911 | no | 96.68 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
99 targeting GCNT4, 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
Literature-anchored findings (GeneRIF, showing 3)
- MicroRNA MiR-130a-3p promotes gastric cancer by targeting Glucosaminyl N-acetyl transferase 4 (GCNT4) to regulate the TGF-beta1/SMAD3 pathway. (PMID:34696660)
- Circ_0005758 impedes gastric cancer progression through miR-1229-3p/GCNT4 feedback loop. (PMID:35970245)
- CircPRDM5 inhibits the proliferation, migration, invasion, and glucose metabolism of gastric cancer cells by reducing GCNT4 expression in a miR-485-3p-dependent manner. (PMID:38180297)
Cross-species orthologs
24 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gcnt4a | ENSDARG00000035198 |
| danio_rerio | gcnt4b.2 | ENSDARG00000044755 |
| danio_rerio | gcnt4b.1 | ENSDARG00000077550 |
| mus_musculus | Gcnt4 | ENSMUSG00000091387 |
| rattus_norvegicus | Gcnt4 | ENSRNOG00000064612 |
| drosophila_melanogaster | oxt | FBGN0015360 |
| drosophila_melanogaster | CG9164 | FBGN0030634 |
| caenorhabditis_elegans | gly-15 | WBGENE00001640 |
| caenorhabditis_elegans | gly-16 | WBGENE00001641 |
| caenorhabditis_elegans | gly-17 | WBGENE00001642 |
| caenorhabditis_elegans | gly-18 | WBGENE00001643 |
| caenorhabditis_elegans | gly-19 | WBGENE00001644 |
| caenorhabditis_elegans | WBGENE00005024 | |
| caenorhabditis_elegans | WBGENE00009148 | |
| caenorhabditis_elegans | F30A10.4 | WBGENE00009263 |
| caenorhabditis_elegans | WBGENE00011090 | |
| caenorhabditis_elegans | T09E11.6 | WBGENE00011655 |
| caenorhabditis_elegans | T09E11.9 | WBGENE00011658 |
| caenorhabditis_elegans | T27F6.1 | WBGENE00012102 |
| caenorhabditis_elegans | WBGENE00012135 | |
| caenorhabditis_elegans | WBGENE00013119 | |
| caenorhabditis_elegans | ZK1225.2 | WBGENE00014236 |
| caenorhabditis_elegans | WBGENE00019270 | |
| caenorhabditis_elegans | WBGENE00019919 |
Paralogs (8): XYLT2 (ENSG00000015532), WSCD2 (ENSG00000075035), XYLT1 (ENSG00000103489), GCNT2 (ENSG00000111846), GCNT7 (ENSG00000124091), GCNT3 (ENSG00000140297), WSCD1 (ENSG00000179314), GCNT1 (ENSG00000187210)
Protein
Protein identifiers
Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 — Q9P109 (reviewed: Q9P109)
Alternative names: Core 2-branching enzyme 3, Core2-GlcNAc-transferase 3
All UniProt accessions (1): Q9P109
UniProt curated annotations — full annotation on UniProt →
Function. Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Predominantly expressed in thymus. Weakly expressed in pancreas, peripheral blood leukocytes, placenta, small intestine and stomach. Barely detectable in liver, spleen, lung and lymph node.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 14 family.
RefSeq proteins (1): NP_001353666* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003406 | Glyco_trans_14 | Family |
Pfam: PF02485
Enzyme classification (BRENDA):
- EC 2.4.1.102 — beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (BRENDA: 13 organisms, 110 substrates, 35 inhibitors, 50 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| UDP-N-ACETYL-D-GLUCOSAMINE | 0.0063–5.6 | 9 |
| BETA-D-GALACTOSYL-1,3-N-ACETYL-ALPHA-D-GALACTOSA | 0.77–2 | 7 |
| 3-DEOXY-BETA-D-GALACTOSYL-1,3-N-ACETYL-D-GALACTO | 2–5.5 | 5 |
| 4-DEOXY-BETA-D-GALACTOSYL-1,3-N-ACETYL-D-GALACTO | 3.1–10 | 5 |
| BETA-D-GALACTOSYL-1,3-(6-DEOXY)-N-ACETYL-D-GALAC | 12–37 | 4 |
| GALBETA(1-3)GALNACALPHA-P-NITROPHENOL | 0.11–1.6 | 4 |
| BETA-D-GALACTOSYL-1,3-N-ACETYL-ALPHA-D-GALACTOSA | 0.52–0.92 | 2 |
| BETA-D-GALACTOSYL-1,3-N-ACETYL-D-GALACTOSAMINYL- | 0.36–0.43 | 2 |
| ANTIFREEZE GLYCOPROTEIN POLYPEPTIDE | 23 | 1 |
| ASIALO-BLOOD GROUP A NEGATIVE PSM | 5.2 | 1 |
| BETA-D-GALACTOSYL-1,3-N-ACETYL-ALPHA-D-GALACTOSA | 1.2 | 1 |
| BETA-D-GALACTOSYL-1,3-N-ACETYL-ALPHA-D-GALACTOSA | 0.86 | 1 |
| BETA-D-GALACTOSYL-1,3-N-ACETYL-ALPHA-D-GALACTOSA | 4.2 | 1 |
| BETA-D-GALACTOSYL-1,3-N-ACETYL-BETA-D-GALACTOSAM | 0.92 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- a 3-O-[beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-seryl-[protein] + UDP + H(+) (RHEA:56212)
- a 3-O-[beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = a 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-threonyl-[protein] + UDP + H(+) (RHEA:56216)
UniProt features (13 total): disulfide bond 4, sequence variant 3, 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-Q9P109-F1 | 91.41 | 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.
Disulfide bonds (4): 73–227, 161–382, 182–209, 391–423
Glycosylation sites (2): 72, 286
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-913709 | O-linked glycosylation of mucins |
MSigDB gene sets: 89 (showing top):
GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, ACTACCT_MIR196A_MIR196B, GOBP_BEHAVIOR, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_KIDNEY_MORPHOGENESIS, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_TISSUE_MORPHOGENESIS, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS
GO Biological Process (10): neutrophil homeostasis (GO:0001780), inter-male aggressive behavior (GO:0002121), carbohydrate metabolic process (GO:0005975), protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), thyroid hormone metabolic process (GO:0042403), tissue morphogenesis (GO:0048729), kidney morphogenesis (GO:0060993), obsolete protein glycosylation (GO:0006486), glycoprotein biosynthetic process (GO:0009101)
GO Molecular Function (6): beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829), N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109), acetylglucosaminyltransferase activity (GO:0008375), UDP-glycosyltransferase activity (GO:0008194), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| O-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| acetylglucosaminyltransferase activity | 2 |
| leukocyte homeostasis | 1 |
| myeloid cell homeostasis | 1 |
| aggressive behavior | 1 |
| primary metabolic process | 1 |
| glycoprotein biosynthetic process | 1 |
| protein O-linked glycosylation | 1 |
| modified amino acid metabolic process | 1 |
| phenol-containing compound metabolic process | 1 |
| hormone metabolic process | 1 |
| anatomical structure morphogenesis | 1 |
| tissue development | 1 |
| kidney development | 1 |
| animal organ morphogenesis | 1 |
| macromolecule biosynthetic process | 1 |
| glycoprotein metabolic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| catalytic activity, acting on a glycoprotein | 1 |
| UDP-glycosyltransferase activity | 1 |
| hexosyltransferase activity | 1 |
| glycosyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
540 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GCNT4 | A4GNT | Q9UNA3 | 724 |
| GCNT4 | C1GALT1 | Q9NS00 | 701 |
| GCNT4 | B3GNT6 | Q6ZMB0 | 607 |
| GCNT4 | ST3GAL2 | Q16842 | 598 |
| GCNT4 | ST3GAL1 | Q11201 | 595 |
| GCNT4 | ST3GAL4 | Q11206 | 544 |
| GCNT4 | MUC6 | Q6W4X9 | 541 |
| GCNT4 | GKN1 | Q9NS71 | 508 |
| GCNT4 | A4GALT | Q9NPC4 | 492 |
| GCNT4 | C1GALT1C1 | Q96EU7 | 481 |
| GCNT4 | GAL3ST4 | Q96RP7 | 457 |
| GCNT4 | B3GALT1 | Q9Y5Z6 | 432 |
| GCNT4 | FUT1 | P19526 | 422 |
| GCNT4 | LRRN1 | Q6UXK5 | 419 |
| GCNT4 | B3GNT3 | Q9Y2A9 | 418 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GCNT4 | LRP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (4): GCNT4 (Synthetic Lethality), LRP10 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), CECR1 (Affinity Capture-MS)
ESM2 similar proteins: A2AJQ3, A2AUQ7, A5GFW8, A6NG13, A7RX69, D3ZNQ3, E1BPQ3, E9PU17, E9PX95, E9Q649, G3V9Q9, O15466, P0DN25, P23336, P27473, P38566, P38567, P48794, P61646, P97402, Q02742, Q09324, Q21389, Q2NKH9, Q2YDM8, Q3L7M0, Q3SX46, Q499P3, Q4R5T7, Q4V8F8, Q53G44, Q5U258, Q5ZLK4, Q6ZNI0, Q6ZXC8, Q71SG7, Q7Z388, Q7Z4J2, Q812F3, Q8BV66
Diamond homologs: A5GFW8, E9Q649, O95395, P97402, Q02742, Q09324, Q1M0V6, Q3V3K7, Q5JCT0, Q5U258, Q6ZNI0, Q71SG7, Q7YQE1, Q805R1, Q80RC7, Q866Z4, Q866Z5, Q866Z6, Q8CH87, Q8N0V5, Q92180, Q99CW3, Q9IZK2, Q9P109, Q5QQ53, Q7KVA1, Q5QQ54, Q5QQ55, A2BGL3, D4AUF4, D4PHA7, P54867, P84675, Q0IIY2, Q5QQ49, Q5QQ50, Q5QQ51, Q5QQ52, Q5QQ56, Q5QQ57
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
171 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:75030790:AC:A | donor_gain | 0.9400 |
| 5:75030791:CC:C | donor_gain | 0.9400 |
| 5:75029899:CA:C | donor_gain | 0.9200 |
| 5:75029900:AA:A | donor_gain | 0.9200 |
| 5:75026880:T:C | acceptor_gain | 0.8800 |
| 5:75029901:A:C | donor_gain | 0.8700 |
| 5:75028838:C:CT | donor_gain | 0.8300 |
| 5:75026880:T:TC | acceptor_gain | 0.7900 |
| 5:75028839:C:CT | donor_gain | 0.7900 |
| 5:75028947:CT:C | donor_gain | 0.7800 |
| 5:75030039:C:CC | acceptor_gain | 0.7400 |
| 5:75030881:T:TA | donor_gain | 0.7400 |
| 5:75030841:A:C | donor_gain | 0.7300 |
| 5:75026889:G:C | acceptor_gain | 0.7000 |
| 5:75028837:G:C | donor_gain | 0.7000 |
| 5:75030783:TGTAC:T | donor_loss | 0.7000 |
| 5:75030784:GTACC:G | donor_loss | 0.7000 |
| 5:75030785:TACC:T | donor_loss | 0.7000 |
| 5:75030786:ACCC:A | donor_loss | 0.7000 |
| 5:75030787:C:G | donor_loss | 0.7000 |
| 5:75030788:CCA:C | donor_loss | 0.7000 |
| 5:75030789:CA:C | donor_loss | 0.7000 |
| 5:75030790:ACC:A | donor_loss | 0.7000 |
| 5:75030791:C:CG | donor_loss | 0.7000 |
| 5:75029169:T:TA | donor_gain | 0.6900 |
| 5:75028942:T:TA | donor_gain | 0.6800 |
| 5:75030034:TCATT:T | acceptor_loss | 0.6600 |
| 5:75030036:ATTC:A | acceptor_loss | 0.6600 |
| 5:75030037:TTCT:T | acceptor_loss | 0.6600 |
| 5:75030038:TC:T | acceptor_loss | 0.6600 |
AlphaMissense
3003 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:75028893:C:G | C382S | 0.999 |
| 5:75028894:A:T | C382S | 0.999 |
| 5:75028805:T:A | K411N | 0.998 |
| 5:75028805:T:G | K411N | 0.998 |
| 5:75028866:C:G | C391S | 0.998 |
| 5:75028867:A:T | C391S | 0.998 |
| 5:75028892:A:C | C382W | 0.998 |
| 5:75028893:C:T | C382Y | 0.998 |
| 5:75028925:C:A | W371C | 0.998 |
| 5:75028925:C:G | W371C | 0.998 |
| 5:75028806:T:A | K411I | 0.997 |
| 5:75028807:T:C | K411E | 0.997 |
| 5:75028865:A:C | C391W | 0.997 |
| 5:75028866:C:T | C391Y | 0.997 |
| 5:75028867:A:G | C391R | 0.997 |
| 5:75028893:C:A | C382F | 0.997 |
| 5:75028927:A:G | W371R | 0.997 |
| 5:75028927:A:T | W371R | 0.997 |
| 5:75028812:G:T | A409D | 0.996 |
| 5:75028894:A:G | C382R | 0.996 |
| 5:75028938:C:G | R367P | 0.996 |
| 5:75028939:G:T | R367S | 0.996 |
| 5:75029007:C:G | R344P | 0.996 |
| 5:75029023:A:G | W339R | 0.996 |
| 5:75029023:A:T | W339R | 0.996 |
| 5:75029411:G:C | C209W | 0.996 |
| 5:75028866:C:A | C391F | 0.995 |
| 5:75029380:A:G | W220R | 0.995 |
| 5:75029380:A:T | W220R | 0.995 |
| 5:75029448:T:C | Y197C | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000009403 (5:75031402 A>G,T), RS1000036505 (5:75037008 T>C), RS1000087025 (5:75037240 AG>A), RS1000154591 (5:75046220 G>C), RS1000200750 (5:75017308 C>A,T), RS1000234492 (5:75033849 C>T), RS1000324348 (5:75023950 AGGCCC>A), RS1000333573 (5:75030956 A>G), RS1000389036 (5:75052523 C>T), RS1000400220 (5:75034153 G>A), RS1000443844 (5:75024182 CA>C,CAA), RS1000527555 (5:75027820 A>T), RS1000580471 (5:75040273 G>A,C), RS1000590853 (5:75020673 C>A,T), RS1000822946 (5:75027522 C>T)
Disease associations
OMIM: gene MIM:616782 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001840_4 | Stearic acid (18:0) levels | 4.000000e-06 |
| GCST003678_15 | C-reactive protein levels or total cholesterol levels (pleiotropy) | 7.000000e-13 |
| GCST003679_4 | C-reactive protein levels or LDL-cholesterol levels (pleiotropy) | 2.000000e-11 |
| GCST006296_1 | Response to ziprazidone in schizophrenia | 1.000000e-06 |
| GCST008129_44 | Body mass index | 9.000000e-32 |
| GCST90011899_43 | Aspartate aminotransferase levels | 2.000000e-15 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004340 | body mass index |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, affects response to substance, increases expression | 1 |
| 4-nonylphenol | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-tert-octylphenol | affects cotreatment, increases expression | 1 |
| Glyphosate | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Estradiol | increases expression, affects cotreatment | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Propofol | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.