POFUT2
gene geneOn this page
Also known as KIAA0958FUT13
Summary
POFUT2 (protein O-fucosyltransferase 2, HGNC:14683) is a protein-coding gene on chromosome 21q22.3, encoding GDP-fucose protein O-fucosyltransferase 2 (Q9Y2G5). GDP-fucose protein O-fucosyltransferase involved in one of the two pathways responsible for protein O-linked fucosylation, a unique post-translational modification of cysteine-knotted proteins that regulates various biological functions.
Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).
Source: NCBI Gene 23275 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 72 total
- MANE Select transcript:
NM_133635
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14683 |
| Approved symbol | POFUT2 |
| Name | protein O-fucosyltransferase 2 |
| Location | 21q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0958, FUT13 |
| Ensembl gene | ENSG00000186866 |
| Ensembl biotype | protein_coding |
| OMIM | 610249 |
| Entrez | 23275 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 10 protein_coding, 8 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000331343, ENST00000334538, ENST00000349485, ENST00000451615, ENST00000460932, ENST00000463917, ENST00000468360, ENST00000471540, ENST00000476653, ENST00000485190, ENST00000493524, ENST00000493811, ENST00000612472, ENST00000615172, ENST00000898195, ENST00000898196, ENST00000898197, ENST00000898198, ENST00000937165
RefSeq mRNA: 2 — MANE Select: NM_133635
NM_015227, NM_133635
CCDS: CCDS13719, CCDS13721
Canonical transcript exons
ENST00000349485 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003462591 | 45269839 | 45270019 |
| ENSE00003473928 | 45283383 | 45283527 |
| ENSE00003489621 | 45263935 | 45265635 |
| ENSE00003522310 | 45282349 | 45282459 |
| ENSE00003530867 | 45277017 | 45277142 |
| ENSE00003583701 | 45278103 | 45278169 |
| ENSE00003614666 | 45285678 | 45285928 |
| ENSE00003683659 | 45267590 | 45267713 |
| ENSE00003906729 | 45287741 | 45287895 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 95.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.1903 / max 171.6274, expressed in 1809 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 190832 | 17.1239 | 1802 |
| 190831 | 4.0483 | 1542 |
| 190830 | 0.0181 | 6 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 95.65 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.01 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.38 | gold quality |
| endocervix | UBERON:0000458 | 93.15 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.15 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.14 | gold quality |
| left ovary | UBERON:0002119 | 93.09 | gold quality |
| pituitary gland | UBERON:0000007 | 93.02 | gold quality |
| sural nerve | UBERON:0015488 | 92.91 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.44 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.43 | gold quality |
| right ovary | UBERON:0002118 | 92.38 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.37 | gold quality |
| left uterine tube | UBERON:0001303 | 92.36 | gold quality |
| thyroid gland | UBERON:0002046 | 92.35 | gold quality |
| gall bladder | UBERON:0002110 | 91.98 | gold quality |
| ascending aorta | UBERON:0001496 | 91.72 | gold quality |
| thoracic aorta | UBERON:0001515 | 91.66 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.32 | gold quality |
| parotid gland | UBERON:0001831 | 91.32 | gold quality |
| body of uterus | UBERON:0009853 | 91.25 | gold quality |
| tibial nerve | UBERON:0001323 | 91.04 | gold quality |
| aorta | UBERON:0000947 | 90.85 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.57 | gold quality |
| body of pancreas | UBERON:0001150 | 90.50 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.49 | gold quality |
| popliteal artery | UBERON:0002250 | 90.33 | gold quality |
| tibial artery | UBERON:0007610 | 90.33 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.18 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.17 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
84 targeting POFUT2, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-642A-5P | 99.51 | 65.10 | 1152 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
Literature-anchored findings (GeneRIF, showing 4)
- Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation. (PMID:22588082)
- POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation. (PMID:25544610)
- This study demonstrated that the alteration of POFUT2 expression in the superior temporal gyrus of elderly patients with schizophrenia. (PMID:27773385)
- The Essential Role of Water Molecules in the Reaction Mechanism of Protein O-Fucosyltransferase 2. (PMID:36260536)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pofut2 | ENSDARG00000045175 |
| mus_musculus | Pofut2 | ENSMUSG00000020260 |
| rattus_norvegicus | Pofut2 | ENSRNOG00000001228 |
| drosophila_melanogaster | O-fut2 | FBGN0027791 |
| caenorhabditis_elegans | WBGENE00010757 |
Protein
Protein identifiers
GDP-fucose protein O-fucosyltransferase 2 — Q9Y2G5 (reviewed: Q9Y2G5)
Alternative names: Peptide-O-fucosyltransferase 2
All UniProt accessions (4): A0A0C4DGX7, Q9Y2G5, H7C2T5, S6FW71
UniProt curated annotations — full annotation on UniProt →
Function. GDP-fucose protein O-fucosyltransferase involved in one of the two pathways responsible for protein O-linked fucosylation, a unique post-translational modification of cysteine-knotted proteins that regulates various biological functions. This pathway targets proteins with Thrombospondin type-1 (TSP1) repeats (TSR) in the endoplasmic reticulum. Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X-X-S/T-C2 of thrombospondin type I repeats (TSRs) where C1 and C2 are the first and second cysteines of the repeat, respectively. O-fucosylates members of several protein families including the ADAMTS, the thrombospondin (TSP) and spondin families. Required for the proper secretion of ADAMTS family members such as ADAMTSL1 and ADAMTS13. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm.
Subcellular location. Endoplasmic reticulum. Golgi apparatus.
Tissue specificity. Isoform A is expressed in fetal liver and peripheral blood lymphocytes. Isoform B is expressed in spleen, lung, testis, bone marrow, thymus, pancreas, prostate, fetal brain, fetal liver and fetal kidney. Isoform C is expressed in brain, heart, spleen, liver, lung, stomach, testis, placenta, skin, thymus, pancreas, mammary gland, prostate, fetal brain, fetal liver and fetal heart.
Activity regulation. Inhibited by EDTA and by Zn(2+).
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 68 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2G5-3 | C | yes |
| Q9Y2G5-1 | A | |
| Q9Y2G5-2 | B |
RefSeq proteins (2): NP_056042, NP_598368* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019378 | GDP-Fuc_O-FucTrfase | Family |
| IPR045130 | OFUT2-like | Family |
Pfam: PF10250
Enzyme classification (BRENDA):
- EC 2.4.1.221 — peptide-O-fucosyltransferase (BRENDA: 12 organisms, 68 substrates, 3 inhibitors, 15 Km, 2 kcat entries)
Substrate kinetics (BRENDA)
6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GDP-BETA-L-FUCOSE | 0.001–0.0368 | 6 |
| FACTOR VII EGF | 0.006–0.015 | 2 |
| GDP-L-FUCOSE | 0.013–0.015 | 2 |
| GLCNACBETA(1-2)MANALPHA(1-6)[GLCNACBETA(1-2)MANA | 0.15–0.154 | 2 |
| GDP-FUCOSE | 0.0098 | 1 |
| TSR4 | 0.0295 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- L-seryl-[protein] + GDP-beta-L-fucose = 3-O-(alpha-L-fucosyl)-L-seryl-[protein] + GDP + H(+) (RHEA:63644)
- L-threonyl-[protein] + GDP-beta-L-fucose = 3-O-(alpha-L-fucosyl)-L-threonyl-[protein] + GDP + H(+) (RHEA:70491)
UniProt features (55 total): helix 17, strand 12, mutagenesis site 8, binding site 4, glycosylation site 3, splice variant 3, disulfide bond 2, turn 2, signal peptide 1, chain 1, active site 1, site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4AP5 | X-RAY DIFFRACTION | 3 |
| 4AP6 | X-RAY DIFFRACTION | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2G5-F1 | 91.08 | 0.84 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 54 (proton acceptor); 396 (essential for catalytic activity)
Ligand- & substrate-binding residues (4): 53–57; 292–294; 371; 388–389
Disulfide bonds (2): 161–192, 412–419
Glycosylation sites (3): 259, 189, 209
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 54 | abolishes enzyme activity. |
| 92 | abolishes enzyme activity. |
| 152 | reduces enzyme activity. |
| 273 | reduces enzyme activity. |
| 294 | abolishes enzyme activity. |
| 297 | reduces enzyme activity. |
| 395 | no enhanced secretion of adasmts13; when associated with a-396. |
| 396 | reduces enzyme activity. no enhanced secretion of adasmts13; when associated with a-396. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5173214 | O-glycosylation of TSR domain-containing proteins |
MSigDB gene sets: 151 (showing top):
YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_MSH3, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, MORF_BRCA1, MORF_RAD51L3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_GASTRULATION, GOBP_SECRETION, GOBP_MESODERM_MORPHOGENESIS, GOBP_PROTEIN_FOLDING
GO Biological Process (9): mesoderm formation (GO:0001707), fucose metabolic process (GO:0006004), regulation of gene expression (GO:0010468), regulation of epithelial to mesenchymal transition (GO:0010717), protein O-linked glycosylation via fucose (GO:0036066), regulation of secretion (GO:0051046), positive regulation of protein folding (GO:1903334), obsolete protein glycosylation (GO:0006486), obsolete fucosylation (GO:0036065)
GO Molecular Function (4): peptide-O-fucosyltransferase activity (GO:0046922), fucosyltransferase activity (GO:0008417), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), endoplasmic reticulum (GO:0005783)
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 |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| formation of primary germ layer | 1 |
| mesoderm morphogenesis | 1 |
| hexose metabolic process | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| epithelial to mesenchymal transition | 1 |
| regulation of cell differentiation | 1 |
| protein O-linked glycosylation | 1 |
| secretion | 1 |
| regulation of transport | 1 |
| protein folding | 1 |
| positive regulation of cellular process | 1 |
| regulation of protein folding | 1 |
| fucosyltransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| hexosyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
1068 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POFUT2 | B3GLCT | Q6Y288 | 959 |
| POFUT2 | POFUT1 | Q9H488 | 868 |
| POFUT2 | ADARB1 | P78555 | 802 |
| POFUT2 | PADI2 | Q9Y2J8 | 777 |
| POFUT2 | THBS1 | P07996 | 721 |
| POFUT2 | FUT8 | Q9BYC5 | 703 |
| POFUT2 | TSR3 | Q9UJK0 | 694 |
| POFUT2 | POFUT4 | Q495W5 | 670 |
| POFUT2 | COL18A1 | P39060 | 669 |
| POFUT2 | FUT1 | P19526 | 650 |
| POFUT2 | SPON1 | Q9HCB6 | 647 |
| POFUT2 | SLC35C1 | Q96A29 | 594 |
| POFUT2 | EVA1C | P58658 | 587 |
| POFUT2 | YBEY | P58557 | 575 |
| POFUT2 | RWDD2B | P57060 | 572 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| USP22 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP1LC3A | psi-mi:“MI:0914”(association) | 0.350 | |
| GABARAP | psi-mi:“MI:0914”(association) | 0.350 | |
| C1orf54 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| HBB | HNRNPH2 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (19): POFUT2 (Proximity Label-MS), POFUT2 (Affinity Capture-MS), POFUT2 (Affinity Capture-RNA), POFUT2 (Proximity Label-MS), POFUT2 (Proximity Label-MS), POFUT2 (Proximity Label-MS), POFUT2 (Co-fractionation), POFUT2 (Co-fractionation), POFUT2 (Co-fractionation), POFUT2 (Affinity Capture-MS), POFUT2 (Affinity Capture-MS), POFUT2 (Proximity Label-MS), POFUT2 (Proximity Label-MS), POFUT2 (Affinity Capture-MS), POFUT2 (Proximity Label-MS)
ESM2 similar proteins: A4IID1, A5D7I4, A5PK45, A9X1C8, G5E897, O12971, O60568, O77783, O95803, P52848, P52849, P52850, P70428, P97464, Q02353, Q16394, Q3UHN9, Q5F407, Q5IGR6, Q5IGR7, Q5IGR8, Q5M854, Q5R6K5, Q5RBC3, Q5U367, Q5U4X8, Q6EV56, Q6GMK0, Q6GQI7, Q6GQK9, Q6IS24, Q6UW63, Q6ZQ11, Q7TT15, Q7Z4H8, Q812F8, Q86X52, Q8K297, Q8NBJ5, Q8VHI3
Diamond homologs: Q6EV56, Q8VHI3, Q8WR51, Q9W589, Q9Y2G5, Q501D6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2809 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:45269837:AC:A | donor_gain | 1.0000 |
| 21:45269838:CC:C | donor_gain | 1.0000 |
| 21:45277019:T:A | donor_gain | 1.0000 |
| 21:45277036:T:TA | donor_gain | 1.0000 |
| 21:45278101:A:AC | donor_gain | 1.0000 |
| 21:45278101:ACAT:A | donor_gain | 1.0000 |
| 21:45278101:ACATC:A | donor_gain | 1.0000 |
| 21:45278102:C:CC | donor_gain | 1.0000 |
| 21:45278102:CAT:C | donor_gain | 1.0000 |
| 21:45278102:CATC:C | donor_gain | 1.0000 |
| 21:45278102:CATCC:C | donor_gain | 1.0000 |
| 21:45282348:CCGGG:C | donor_gain | 1.0000 |
| 21:45285929:C:CA | acceptor_loss | 1.0000 |
| 21:45285930:T:A | acceptor_loss | 1.0000 |
| 21:45287740:CCGT:C | donor_gain | 1.0000 |
| 21:45267525:TGGG:T | donor_gain | 0.9900 |
| 21:45267710:TATT:T | acceptor_gain | 0.9900 |
| 21:45267712:TT:T | acceptor_gain | 0.9900 |
| 21:45267714:C:CC | acceptor_gain | 0.9900 |
| 21:45269836:TA:T | donor_loss | 0.9900 |
| 21:45277138:CGGGT:C | acceptor_gain | 0.9900 |
| 21:45277143:C:CC | acceptor_gain | 0.9900 |
| 21:45278071:A:AC | donor_gain | 0.9900 |
| 21:45278072:C:CC | donor_gain | 0.9900 |
| 21:45278104:T:TA | donor_gain | 0.9900 |
| 21:45278105:C:A | donor_gain | 0.9900 |
| 21:45282340:GGCAC:G | donor_loss | 0.9900 |
| 21:45282341:GCACT:G | donor_loss | 0.9900 |
| 21:45282342:CACT:C | donor_loss | 0.9900 |
| 21:45282343:ACT:A | donor_loss | 0.9900 |
AlphaMissense
2801 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 21:45285889:G:C | N57K | 1.000 |
| 21:45285889:G:T | N57K | 1.000 |
| 21:45269957:G:C | F298L | 0.999 |
| 21:45269957:G:T | F298L | 0.999 |
| 21:45269959:A:G | F298L | 0.999 |
| 21:45269970:C:G | R294T | 0.999 |
| 21:45285750:A:G | W104R | 0.999 |
| 21:45285750:A:T | W104R | 0.999 |
| 21:45285786:A:G | W92R | 0.999 |
| 21:45285786:A:T | W92R | 0.999 |
| 21:45285815:A:T | V82D | 0.999 |
| 21:45285879:C:G | D61H | 0.999 |
| 21:45285887:A:G | L58P | 0.999 |
| 21:45285892:G:C | F56L | 0.999 |
| 21:45285892:G:T | F56L | 0.999 |
| 21:45285894:A:G | F56L | 0.999 |
| 21:45285897:C:G | G55R | 0.999 |
| 21:45265605:A:C | F389L | 0.998 |
| 21:45265605:A:T | F389L | 0.998 |
| 21:45265607:A:G | F389L | 0.998 |
| 21:45269962:C:G | D297H | 0.998 |
| 21:45285784:C:A | W92C | 0.998 |
| 21:45285784:C:G | W92C | 0.998 |
| 21:45285789:G:C | H91D | 0.998 |
| 21:45285804:A:G | W86R | 0.998 |
| 21:45285804:A:T | W86R | 0.998 |
| 21:45285878:T:A | D61V | 0.998 |
| 21:45285878:T:G | D61A | 0.998 |
| 21:45285885:G:T | R59S | 0.998 |
| 21:45285897:C:A | G55C | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000058421 (21:45275018 C>G), RS1000204260 (21:45279503 A>G), RS1000259810 (21:45266514 G>A), RS1000471690 (21:45281624 G>C), RS1000694497 (21:45270836 C>T), RS1000719586 (21:45282808 C>T), RS1000747148 (21:45270995 A>G), RS1000776128 (21:45286236 C>T), RS1000782514 (21:45281805 C>A,T), RS1001034887 (21:45277546 C>T), RS1001128530 (21:45268145 C>T), RS1001163892 (21:45276744 C>CT), RS1001173034 (21:45283097 G>A), RS1001302516 (21:45265488 G>A), RS1001378255 (21:45264594 G>A,T)
Disease associations
OMIM: gene MIM:610249 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005175_68 | Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes | 8.000000e-06 |
| GCST006999_5 | Logical memory (immediate recall) in mild cognitive impairment | 4.000000e-07 |
| GCST012279_17 | Suicide attempt severity in mood disorders | 2.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004723 | coronary artery calcification |
| EFO:0004874 | memory performance |
| EFO:0006882 | suicide behaviour measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases methylation | 4 |
| bisphenol F | increases expression, affects cotreatment, decreases expression | 2 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| PCI 5002 | increases expression, affects cotreatment | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8TG | Ubigene HCT 116 POFUT2 KO | Cancer cell line | Male |
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.