POGLUT2
gene geneOn this page
Also known as MGC5302EP58
Summary
POGLUT2 (protein O-glucosyltransferase 2, HGNC:19350) is a protein-coding gene on chromosome 13q33.1, encoding Protein O-glucosyltransferase 2 (Q6UW63). Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C.
This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms.
Source: NCBI Gene 79070 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 87 total
- MANE Select transcript:
NM_024089
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19350 |
| Approved symbol | POGLUT2 |
| Name | protein O-glucosyltransferase 2 |
| Location | 13q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC5302, EP58 |
| Ensembl gene | ENSG00000134901 |
| Ensembl biotype | protein_coding |
| OMIM | 611613 |
| Entrez | 79070 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 8 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000376004, ENST00000460338, ENST00000484943, ENST00000486540, ENST00000706516, ENST00000706517, ENST00000706518, ENST00000706519, ENST00000706520, ENST00000706521, ENST00000706522, ENST00000884207, ENST00000884208, ENST00000933311, ENST00000933312, ENST00000957245
RefSeq mRNA: 2 — MANE Select: NM_024089
NM_001318732, NM_024089
CCDS: CCDS9504
Canonical transcript exons
ENST00000376004 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000686125 | 102791258 | 102791430 |
| ENSE00001469134 | 102798489 | 102798976 |
| ENSE00001832927 | 102784281 | 102784512 |
| ENSE00003459379 | 102787834 | 102787923 |
| ENSE00003563213 | 102786232 | 102786339 |
| ENSE00003602958 | 102789012 | 102789221 |
| ENSE00003637326 | 102793601 | 102793806 |
| ENSE00003661664 | 102790901 | 102791138 |
| ENSE00003678111 | 102796804 | 102797009 |
| ENSE00003679201 | 102793341 | 102793418 |
Expression profiles
Bgee: expression breadth ubiquitous, 226 present calls, max score 86.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5500 / max 82.4776, expressed in 1532 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138111 | 8.0869 | 1505 |
| 138110 | 1.4631 | 834 |
Top tissues by expression
268 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 86.86 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.66 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.29 | gold quality |
| cartilage tissue | UBERON:0002418 | 83.71 | gold quality |
| secondary oocyte | CL:0000655 | 83.69 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.97 | gold quality |
| tibia | UBERON:0000979 | 82.49 | gold quality |
| oocyte | CL:0000023 | 82.45 | gold quality |
| ventricular zone | UBERON:0003053 | 82.02 | gold quality |
| periodontal ligament | UBERON:0008266 | 80.68 | gold quality |
| body of uterus | UBERON:0009853 | 80.68 | gold quality |
| gall bladder | UBERON:0002110 | 79.93 | gold quality |
| myometrium | UBERON:0001296 | 79.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 79.45 | gold quality |
| endometrium | UBERON:0001295 | 79.06 | gold quality |
| embryo | UBERON:0000922 | 78.49 | gold quality |
| right ovary | UBERON:0002118 | 78.40 | gold quality |
| thoracic aorta | UBERON:0001515 | 78.05 | gold quality |
| ascending aorta | UBERON:0001496 | 78.03 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 77.98 | gold quality |
| uterus | UBERON:0000995 | 77.95 | gold quality |
| left coronary artery | UBERON:0001626 | 77.59 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 77.44 | gold quality |
| ovary | UBERON:0000992 | 77.01 | gold quality |
| calcaneal tendon | UBERON:0003701 | 76.87 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 76.86 | silver quality |
| left ovary | UBERON:0002119 | 76.80 | gold quality |
| parietal pleura | UBERON:0002400 | 76.80 | gold quality |
| coronary artery | UBERON:0001621 | 76.56 | gold quality |
| endocervix | UBERON:0000458 | 76.46 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.97 |
| E-MTAB-6911 | no | 233.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting POGLUT2, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-509-3-5P | 97.21 | 67.74 | 1517 |
Literature-anchored findings (GeneRIF, showing 3)
- This paper reports data on mouse Kdelc1 (PMID:11167020)
- Our results suggest that GA733-2-Fc conjugated to ER-retention motif KDEL is a more efficient antigen to prevent tumor growth induced by colorectal carcinoma and minimize an allergic response. (PMID:30249898)
- POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1. (PMID:34411563)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | poglut2 | ENSDARG00000031971 |
| mus_musculus | Poglut2 | ENSMUSG00000026047 |
| rattus_norvegicus | Poglut2 | ENSRNOG00000011740 |
Paralogs (2): POGLUT1 (ENSG00000163389), POGLUT3 (ENSG00000178202)
Protein
Protein identifiers
Protein O-glucosyltransferase 2 — Q6UW63 (reviewed: Q6UW63)
Alternative names: Endoplasmic reticulum resident protein 58, KDEL motif-containing protein 1, Protein O-xylosyltransferase POGLUT2
All UniProt accessions (5): A0A9L9PX85, A0A9L9PXK3, A0A9L9PXM5, A0A9L9PY35, Q6UW63
UniProt curated annotations — full annotation on UniProt →
Function. Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C. Can also catalyze the transfer of xylose from UDP-xylose but less efficiently. Specifically targets extracellular EGF repeats of proteins such as NOTCH1, NOTCH3, FBN1, FBN2 and LTBP1. May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway.
Subcellular location. Endoplasmic reticulum lumen.
Post-translational modifications. N-glycosylated.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the KDELC family.
RefSeq proteins (2): NP_001305661, NP_076994* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001298 | Filamin/ABP280_rpt | Repeat |
| IPR006598 | CAP10 | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR014756 | Ig_E-set | Homologous_superfamily |
| IPR017868 | Filamin/ABP280_rpt-like | Repeat |
| IPR051091 | O-Glucosyltr/Glycosyltrsf_90 | Family |
Pfam: PF00630, PF05686
Catalyzed reactions (Rhea), 2 shown:
- L-seryl-[EGF-like domain protein] + UDP-alpha-D-glucose = 3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:58116)
- L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:62016)
UniProt features (17 total): strand 7, glycosylation site 2, sequence conflict 2, signal peptide 1, chain 1, repeat 1, short sequence motif 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9W47 | X-RAY DIFFRACTION | 1.79 |
| 2DI7 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UW63-F1 | 92.77 | 0.88 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 302, 414
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 173 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_255, MODULE_317, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, MODULE_206, DODD_NASOPHARYNGEAL_CARCINOMA_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, MODULE_69
GO Biological Process (3): protein O-linked glycosylation via glucose (GO:0180059), obsolete protein glycosylation (GO:0006486), obsolete protein O-linked glycosylation via serine (GO:0018242)
GO Molecular Function (8): UDP-glucosyltransferase activity (GO:0035251), UDP-xylosyltransferase activity (GO:0035252), glucosyltransferase activity (GO:0046527), EGF-domain serine glucosyltransferase activity (GO:0140561), EGF-domain serine xylosyltransferase activity (GO:0140562), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (5): nucleoplasm (GO:0005654), endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), endomembrane system (GO:0012505), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| UDP-glycosyltransferase activity | 2 |
| cytoplasm | 2 |
| protein O-linked glycosylation | 1 |
| glucosyltransferase activity | 1 |
| xylosyltransferase activity | 1 |
| hexosyltransferase activity | 1 |
| UDP-glucosyltransferase activity | 1 |
| UDP-xylosyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| nuclear lumen | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
396 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POGLUT2 | FLNA | P21333 | 808 |
| POGLUT2 | POFUT1 | Q9H488 | 643 |
| POGLUT2 | GXYLT1 | Q4G148 | 628 |
| POGLUT2 | GXYLT2 | A0PJZ3 | 607 |
| POGLUT2 | XXYLT1 | Q8NBI6 | 590 |
| POGLUT2 | BIVM | Q86UB2 | 541 |
| POGLUT2 | EOGT | Q5NDL2 | 520 |
| POGLUT2 | EGF | P01133 | 472 |
| POGLUT2 | POGLUT3 | Q7Z4H8 | 394 |
| POGLUT2 | NOTCH3 | Q9UM47 | 355 |
| POGLUT2 | ZNF607 | Q96SK3 | 348 |
| POGLUT2 | XYLT1 | Q86Y38 | 313 |
| POGLUT2 | ZC3H12C | Q9C0D7 | 301 |
| POGLUT2 | COLGALT1 | Q8NBJ5 | 300 |
| POGLUT2 | DPY19L1 | Q2PZI1 | 300 |
| POGLUT2 | UNC5A | Q6ZN44 | 300 |
IntAct
66 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| CALCOCO2 | TBKBP1 | psi-mi:“MI:0914”(association) | 0.640 |
| BMP1 | TLL1 | psi-mi:“MI:0914”(association) | 0.530 |
| PLOD2 | psi-mi:“MI:0914”(association) | 0.530 | |
| ELSPBP1 | PFDN1 | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| POGLUT2 | GOLGA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ankrd28 | PPP6R3 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| TAZ | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| LOXL3 | MSI1 | psi-mi:“MI:0914”(association) | 0.350 |
| MFAP4 | CRLF1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| TAFAZZIN | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| TRAV20 | MAP2K7 | psi-mi:“MI:0914”(association) | 0.350 |
| LCN6 | COCH | psi-mi:“MI:0914”(association) | 0.350 |
| POGLUT2 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| ITGB8 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BRICD5 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PTCH1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GML | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| IL5RA | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| LCN6 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (85): KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Synthetic Lethality), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Protein-RNA), KDELC1 (Proximity Label-MS), KDELC1 (Proximity Label-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Proximity Label-MS), KDELC1 (Proximity Label-MS)
ESM2 similar proteins: A4IID1, A5D7I4, A9X1C8, O77836, O95461, O95803, P38649, P97464, Q13822, Q16394, Q4R854, Q5F407, Q5IGR8, Q5M854, Q5RBC3, Q5REP8, Q5U4X8, Q659X0, Q66PG2, Q66PG3, Q6EV76, Q6EV77, Q6GMK0, Q6GQI7, Q6GQK9, Q6IS24, Q6KFX9, Q6UW63, Q7TT15, Q812F8, Q812G0, Q86X52, Q8BJQ9, Q8HY56, Q8HYB2, Q8IYK4, Q8N6G5, Q8SPR2, Q8TDX6, Q9BYC5
Diamond homologs: A0NDG6, B0X1Q4, G3V9D0, G5E897, Q16QY8, Q29AU6, Q566E5, Q5E9Q1, Q6UW63, Q7Z4H8, Q7ZVE6, Q8BYB9, Q8NBL1, Q8T045, Q9JHP7, Q5K8R6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Metabolism of carbohydrates and carbohydrate derivatives | 5 | 10.5× | 9e-03 |
| Neutrophil degranulation | 12 | 4.9× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| collagen fibril organization | 6 | 16.4× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1785 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:102789007:CTTA:C | donor_loss | 1.0000 |
| 13:102789008:TTAC:T | donor_loss | 1.0000 |
| 13:102789009:TA:T | donor_loss | 1.0000 |
| 13:102789010:A:C | donor_loss | 1.0000 |
| 13:102789011:C:CG | donor_loss | 1.0000 |
| 13:102789220:TG:T | acceptor_gain | 1.0000 |
| 13:102791250:T:C | donor_gain | 1.0000 |
| 13:102791426:TTCAC:T | acceptor_gain | 1.0000 |
| 13:102791428:CAC:C | acceptor_gain | 1.0000 |
| 13:102791429:ACC:A | acceptor_loss | 1.0000 |
| 13:102791431:C:CC | acceptor_gain | 1.0000 |
| 13:102791431:CTAG:C | acceptor_loss | 1.0000 |
| 13:102791432:T:A | acceptor_loss | 1.0000 |
| 13:102793335:ACTT:A | donor_loss | 1.0000 |
| 13:102793336:CTTA:C | donor_loss | 1.0000 |
| 13:102793337:TTA:T | donor_loss | 1.0000 |
| 13:102793338:TA:T | donor_loss | 1.0000 |
| 13:102793340:C:CT | donor_loss | 1.0000 |
| 13:102793595:TTGTA:T | donor_loss | 1.0000 |
| 13:102793596:TGTA:T | donor_loss | 1.0000 |
| 13:102793597:GTAC:G | donor_loss | 1.0000 |
| 13:102793598:TACC:T | donor_loss | 1.0000 |
| 13:102793599:ACC:A | donor_loss | 1.0000 |
| 13:102793600:C:CT | donor_loss | 1.0000 |
| 13:102793802:CGGCC:C | acceptor_gain | 1.0000 |
| 13:102793803:GGCC:G | acceptor_gain | 1.0000 |
| 13:102793804:GCC:G | acceptor_gain | 1.0000 |
| 13:102793805:CC:C | acceptor_gain | 1.0000 |
| 13:102793805:CCC:C | acceptor_gain | 1.0000 |
| 13:102793805:CCCTA:C | acceptor_loss | 1.0000 |
AlphaMissense
3350 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:102791065:A:G | W307R | 1.000 |
| 13:102791065:A:T | W307R | 1.000 |
| 13:102791390:T:A | D238V | 1.000 |
| 13:102793383:A:C | F210L | 1.000 |
| 13:102793383:A:T | F210L | 1.000 |
| 13:102793385:A:G | F210L | 1.000 |
| 13:102791048:G:C | S312R | 0.999 |
| 13:102791048:G:T | S312R | 0.999 |
| 13:102791050:T:G | S312R | 0.999 |
| 13:102791053:C:G | D311H | 0.999 |
| 13:102791055:C:G | R310P | 0.999 |
| 13:102791058:C:T | G309E | 0.999 |
| 13:102791059:C:A | G309W | 0.999 |
| 13:102791059:C:G | G309R | 0.999 |
| 13:102791059:C:T | G309R | 0.999 |
| 13:102791313:C:G | D264H | 0.999 |
| 13:102791332:A:C | C257W | 0.999 |
| 13:102791337:A:G | W256R | 0.999 |
| 13:102791337:A:T | W256R | 0.999 |
| 13:102791389:G:C | D238E | 0.999 |
| 13:102791389:G:T | D238E | 0.999 |
| 13:102791390:T:C | D238G | 0.999 |
| 13:102791390:T:G | D238A | 0.999 |
| 13:102791391:C:G | D238H | 0.999 |
| 13:102791398:A:C | N235K | 0.999 |
| 13:102791398:A:T | N235K | 0.999 |
| 13:102793374:G:C | F213L | 0.999 |
| 13:102793374:G:T | F213L | 0.999 |
| 13:102793376:A:G | F213L | 0.999 |
| 13:102793384:A:C | F210C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000152944 (13:102797996 A>G), RS1000173440 (13:102800346 G>C), RS1000289572 (13:102800108 G>A), RS1000801366 (13:102786981 T>C), RS1000926456 (13:102792983 C>G), RS1001233756 (13:102786667 A>C,T), RS1001249005 (13:102786057 C>T), RS1001295254 (13:102798873 G>C), RS1001301370 (13:102785826 A>G), RS1001561098 (13:102799146 T>A), RS1001671953 (13:102786075 T>C), RS1001791115 (13:102792599 A>G), RS1002274119 (13:102787302 C>T), RS1002299502 (13:102797753 A>C,T), RS1002306712 (13:102787039 T>C,G)
Disease associations
OMIM: gene MIM:611613 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| bisphenol A | decreases expression, affects cotreatment, increases expression | 2 |
| sodium arsenite | decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| kojic acid | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arbutin | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Iron | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 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.