POGLUT3
geneOn this page
Also known as MGC33424
Summary
POGLUT3 (protein O-glucosyltransferase 3, HGNC:28496) is a protein-coding gene on chromosome 11q22.3, encoding Protein O-glucosyltransferase 3 (Q7Z4H8). 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.
Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via serine. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system.
Source: NCBI Gene 143888 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_153705
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28496 |
| Approved symbol | POGLUT3 |
| Name | protein O-glucosyltransferase 3 |
| Location | 11q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33424 |
| Ensembl gene | ENSG00000178202 |
| Ensembl biotype | protein_coding |
| OMIM | 618503 |
| Entrez | 143888 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000323468, ENST00000434945, ENST00000524787, ENST00000530318, ENST00000530529, ENST00000532730, ENST00000706523, ENST00000706524, ENST00000706525
RefSeq mRNA: 3 — MANE Select: NM_153705
NM_001363502, NM_001363503, NM_153705
CCDS: CCDS41711
Canonical transcript exons
ENST00000323468 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001291189 | 108482006 | 108482222 |
| ENSE00001294164 | 108498165 | 108498384 |
| ENSE00001305657 | 108479301 | 108479495 |
| ENSE00001322032 | 108481180 | 108481376 |
| ENSE00001329287 | 108490970 | 108491167 |
| ENSE00002151080 | 108472116 | 108474952 |
| ENSE00003493170 | 108486157 | 108486440 |
| ENSE00003647984 | 108477607 | 108477711 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 95.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9988 / max 136.0063, expressed in 1723 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122150 | 10.1223 | 1674 |
| 122152 | 1.9870 | 1078 |
| 122151 | 1.3411 | 863 |
| 122153 | 0.5343 | 337 |
| 122148 | 0.0140 | 10 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 95.20 | gold quality |
| placenta | UBERON:0001987 | 94.56 | gold quality |
| tendon | UBERON:0000043 | 93.67 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 93.56 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.22 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.10 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 92.84 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 92.82 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.77 | gold quality |
| upper arm skin | UBERON:0004263 | 91.66 | silver quality |
| thoracic aorta | UBERON:0001515 | 91.60 | gold quality |
| ascending aorta | UBERON:0001496 | 91.50 | gold quality |
| right coronary artery | UBERON:0001625 | 90.94 | gold quality |
| gall bladder | UBERON:0002110 | 90.21 | gold quality |
| left uterine tube | UBERON:0001303 | 90.11 | gold quality |
| endocervix | UBERON:0000458 | 90.05 | gold quality |
| synovial joint | UBERON:0002217 | 90.05 | gold quality |
| superficial temporal artery | UBERON:0001614 | 89.96 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.89 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.89 | gold quality |
| aorta | UBERON:0000947 | 89.84 | gold quality |
| body of uterus | UBERON:0009853 | 89.84 | gold quality |
| ventricular zone | UBERON:0003053 | 89.83 | gold quality |
| urethra | UBERON:0000057 | 89.82 | gold quality |
| uterine cervix | UBERON:0000002 | 89.60 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.26 | gold quality |
| uterus | UBERON:0000995 | 89.17 | gold quality |
| endometrium | UBERON:0001295 | 89.16 | gold quality |
| myometrium | UBERON:0001296 | 88.73 | gold quality |
| left coronary artery | UBERON:0001626 | 88.67 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.74 |
| E-CURD-88 | no | 597.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
119 targeting POGLUT3, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
Literature-anchored findings (GeneRIF, showing 1)
- 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 | poglut3 | ENSDARG00000021408 |
| mus_musculus | Poglut3 | ENSMUSG00000034487 |
| rattus_norvegicus | Poglut3 | ENSRNOG00000007177 |
Paralogs (2): POGLUT2 (ENSG00000134901), POGLUT1 (ENSG00000163389)
Protein
Protein identifiers
Protein O-glucosyltransferase 3 — Q7Z4H8 (reviewed: Q7Z4H8)
Alternative names: KDEL motif-containing protein 2, Protein O-xylosyltransferase POGLUT3
All UniProt accessions (4): Q7Z4H8, A0A9L9PX09, A0A9L9PY40, H0YEM3
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.
Pathway. Protein modification; protein glycosylation.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the KDELC family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z4H8-1 | 1 | yes |
| Q7Z4H8-2 | 2 | |
| Q7Z4H8-3 | 3 |
RefSeq proteins (3): NP_001350431, NP_001350432, NP_714916* (*=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 (18 total): sequence conflict 7, splice variant 4, glycosylation site 2, signal peptide 1, chain 1, sequence variant 1, repeat 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z4H8-F1 | 93.16 | 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): 61, 306
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 138 (showing top):
WHITEHURST_PACLITAXEL_SENSITIVITY, chr11q22, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, FREDERICK_PRKCI_TARGETS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, DOUGLAS_BMI1_TARGETS_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, SENESE_HDAC3_TARGETS_DN, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOMF_HEXOSYLTRANSFERASE_ACTIVITY
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 (3): endoplasmic reticulum lumen (GO:0005788), endomembrane system (GO:0012505), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| UDP-glycosyltransferase activity | 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 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
560 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POGLUT3 | POFUT1 | Q9H488 | 625 |
| POGLUT3 | C11orf65 | Q8NCR3 | 615 |
| POGLUT3 | GXYLT1 | Q4G148 | 575 |
| POGLUT3 | NPAT | Q14207 | 573 |
| POGLUT3 | ELMOD1 | Q8N336 | 554 |
| POGLUT3 | EOGT | Q5NDL2 | 515 |
| POGLUT3 | EXPH5 | Q8NEV8 | 487 |
| POGLUT3 | GXYLT2 | A0PJZ3 | 479 |
| POGLUT3 | XXYLT1 | Q8NBI6 | 475 |
| POGLUT3 | SLC35F2 | Q8IXU6 | 446 |
| POGLUT3 | POGLUT2 | Q6UW63 | 394 |
| POGLUT3 | TMEM40 | Q8WWA1 | 366 |
| POGLUT3 | NOTCH3 | Q9UM47 | 343 |
| POGLUT3 | CUL5 | Q93034 | 343 |
| POGLUT3 | TMEM243 | Q9BU79 | 343 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| PLOD2 | psi-mi:“MI:0914”(association) | 0.530 | |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| BMP1 | TLL1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM106A | B4GALT3 | psi-mi:“MI:0914”(association) | 0.530 |
| POGLUT3 | TUFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| POGLUT3 | HSPA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| POGLUT3 | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| CFTR | POGLUT3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LLCFC1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| NAAA | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| MFAP4 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| CBLN4 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| LILRA5 | HGS | psi-mi:“MI:0914”(association) | 0.350 |
| ST8SIA5 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM25 | CRLF1 | psi-mi:“MI:0914”(association) | 0.350 |
| ENPP7 | PDIA4 | psi-mi:“MI:0914”(association) | 0.350 |
| SP6 | GPX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRSS50 | TUBB | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (90): KDELC2 (Affinity Capture-MS), KDELC2 (Affinity Capture-MS), KDELC2 (Proximity Label-MS), VWA1 (Affinity Capture-MS), KDELC2 (Affinity Capture-MS), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), GRHPR (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation)
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: 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 56 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 6 | 21.7× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1151 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:108474959:C:CT | acceptor_gain | 1.0000 |
| 11:108474960:G:C | acceptor_gain | 1.0000 |
| 11:108477603:TGAC:T | donor_loss | 1.0000 |
| 11:108477604:GACC:G | donor_loss | 1.0000 |
| 11:108477605:A:AT | donor_loss | 1.0000 |
| 11:108477606:C:A | donor_loss | 1.0000 |
| 11:108477633:AAAG:A | donor_gain | 1.0000 |
| 11:108477707:TTTTC:T | acceptor_gain | 1.0000 |
| 11:108477708:TTTC:T | acceptor_gain | 1.0000 |
| 11:108477710:TC:T | acceptor_gain | 1.0000 |
| 11:108477711:CC:C | acceptor_gain | 1.0000 |
| 11:108477713:T:G | acceptor_loss | 1.0000 |
| 11:108477719:G:C | acceptor_gain | 1.0000 |
| 11:108477720:T:C | acceptor_gain | 1.0000 |
| 11:108477720:T:TC | acceptor_gain | 1.0000 |
| 11:108479363:T:TA | donor_gain | 1.0000 |
| 11:108479492:TGTA:T | acceptor_gain | 1.0000 |
| 11:108479496:C:CC | acceptor_gain | 1.0000 |
| 11:108479503:A:AC | acceptor_gain | 1.0000 |
| 11:108479503:A:C | acceptor_gain | 1.0000 |
| 11:108481175:CATA:C | donor_loss | 1.0000 |
| 11:108481176:ATAC:A | donor_loss | 1.0000 |
| 11:108481177:TAC:T | donor_loss | 1.0000 |
| 11:108481178:A:C | donor_loss | 1.0000 |
| 11:108481179:C:CA | donor_loss | 1.0000 |
| 11:108481261:T:TA | donor_gain | 1.0000 |
| 11:108481377:C:CA | acceptor_loss | 1.0000 |
| 11:108481378:T:A | acceptor_loss | 1.0000 |
| 11:108482014:C:A | donor_gain | 1.0000 |
| 11:108486299:T:TA | donor_gain | 1.0000 |
AlphaMissense
3305 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:108486199:G:C | F214L | 0.995 |
| 11:108486199:G:T | F214L | 0.995 |
| 11:108486201:A:G | F214L | 0.995 |
| 11:108479461:G:T | A378D | 0.993 |
| 11:108481324:G:C | S318R | 0.993 |
| 11:108481324:G:T | S318R | 0.993 |
| 11:108481326:T:G | S318R | 0.993 |
| 11:108481339:G:C | F313L | 0.993 |
| 11:108481339:G:T | F313L | 0.993 |
| 11:108481341:A:G | F313L | 0.993 |
| 11:108481358:T:A | K307I | 0.992 |
| 11:108486190:G:C | F217L | 0.992 |
| 11:108486190:G:T | F217L | 0.992 |
| 11:108486192:A:G | F217L | 0.992 |
| 11:108481329:C:G | D317H | 0.991 |
| 11:108481357:T:A | K307N | 0.991 |
| 11:108481357:T:G | K307N | 0.991 |
| 11:108482123:A:G | W262R | 0.991 |
| 11:108482123:A:T | W262R | 0.991 |
| 11:108481312:C:A | R322S | 0.988 |
| 11:108481312:C:G | R322S | 0.988 |
| 11:108482181:A:C | D242E | 0.988 |
| 11:108482181:A:T | D242E | 0.988 |
| 11:108482182:T:A | D242V | 0.988 |
| 11:108482182:T:C | D242G | 0.988 |
| 11:108482182:T:G | D242A | 0.988 |
| 11:108479452:C:G | R381T | 0.987 |
| 11:108482183:C:G | D242H | 0.987 |
| 11:108481313:C:A | R322M | 0.986 |
| 11:108479490:C:A | K368N | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000007132 (11:108482662 C>T), RS1000282722 (11:108488683 A>C), RS1000353504 (11:108495743 T>C), RS1000386513 (11:108495999 G>A,T), RS1000405849 (11:108496075 T>C), RS1000424642 (11:108488606 A>G), RS1000560731 (11:108474406 C>A,T), RS1000899291 (11:108483886 C>G), RS1000911927 (11:108483942 G>A,T), RS1001011796 (11:108484247 A>G), RS1001047174 (11:108484181 T>C), RS1001164232 (11:108476237 G>A,T), RS1001233073 (11:108495329 C>G), RS1001255677 (11:108488186 A>G), RS1001291686 (11:108488184 C>T)
Disease associations
OMIM: gene MIM:618503 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_159 | Red blood cell count | 2.000000e-11 |
| GCST004602_201 | Mean corpuscular volume | 2.000000e-17 |
| GCST004710_6 | Renal cell carcinoma | 2.000000e-10 |
| GCST005075_1 | Breast Cancer in BRCA1 mutation carriers | 2.000000e-06 |
| GCST005075_6 | Breast Cancer in BRCA1 mutation carriers | 1.000000e-06 |
| GCST005076_14 | Breast cancer (estrogen-receptor negative) | 4.000000e-08 |
| GCST005076_19 | Breast cancer (estrogen-receptor negative) | 2.000000e-06 |
| GCST005077_10 | Breast cancer | 5.000000e-11 |
| GCST005077_3 | Breast cancer | 4.000000e-13 |
| GCST006585_1607 | Blood protein levels | 1.000000e-68 |
| GCST007250_11 | Nonunion in individuals with fractures | 3.000000e-07 |
| GCST009158_30 | Uterine fibroids | 1.000000e-27 |
| GCST010002_248 | Refractive error | 4.000000e-19 |
| GCST011378_4 | Brain-derived neurotrophic factor levels | 2.000000e-10 |
| GCST90002390_41 | Mean corpuscular hemoglobin | 1.000000e-40 |
| GCST90002396_502 | Mean reticulocyte volume | 2.000000e-21 |
| GCST90002400_473 | Plateletcrit | 2.000000e-33 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0009707 | fractures, ununited |
| EFO:0011018 | brain-derived neurotrophic factor measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Cisplatin | affects cotreatment, decreases expression, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| Particulate Matter | increases expression, affects cotreatment, increases abundance | 2 |
| bisphenol F | increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Azathioprine | decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Copper | decreases expression, affects binding | 1 |
| Diuron | decreases expression | 1 |
| Folic Acid | affects cotreatment, decreases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methotrexate | affects cotreatment, decreases expression | 1 |
| Naled | affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases expression, affects cotreatment, increases abundance | 1 |
| Quercetin | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): estrogen-receptor negative breast cancer, renal cell carcinoma, uterine corpus leiomyoma