WDR20
gene geneOn this page
Also known as DMRMGC33177FLJ33659Bun107
Summary
WDR20 (WD repeat domain 20, HGNC:19667) is a protein-coding gene on chromosome 14q32.31, encoding WD repeat-containing protein 20 (Q8TBZ3). Regulator of deubiquitinating complexes.
This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 91833 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 65 total
- Druggable target: yes
- MANE Select transcript:
NM_144574
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19667 |
| Approved symbol | WDR20 |
| Name | WD repeat domain 20 |
| Location | 14q32.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DMR, MGC33177, FLJ33659, Bun107 |
| Ensembl gene | ENSG00000140153 |
| Ensembl biotype | protein_coding |
| OMIM | 617741 |
| Entrez | 91833 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 14 protein_coding, 7 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000299135, ENST00000322340, ENST00000335263, ENST00000342702, ENST00000424963, ENST00000454394, ENST00000555879, ENST00000555973, ENST00000556094, ENST00000556511, ENST00000556807, ENST00000557186, ENST00000557485, ENST00000558135, ENST00000558448, ENST00000558567, ENST00000558854, ENST00000559478, ENST00000559708, ENST00000561154, ENST00000879557, ENST00000879558, ENST00000944828
RefSeq mRNA: 33 — MANE Select: NM_144574
NM_001242414, NM_001242415, NM_001242416, NM_001242417, NM_001242418, NM_001320130, NM_001330228, NM_001353656, NM_001353657, NM_001353658, NM_001353659, NM_001353660, NM_001353661, NM_001353662, NM_001353663, NM_001353664, NM_001353665, NM_001353666, NM_001353667, NM_001353669, NM_001353671, NM_001353672, NM_001353673, NM_001353674, NM_001353675, NM_001353676, NM_001353677, NM_001353678, NM_001353680, NM_001353681, NM_144574, NM_181291, NM_181308
CCDS: CCDS55942, CCDS55943, CCDS55944, CCDS55945, CCDS81853, CCDS9968, CCDS9969, CCDS9970
Canonical transcript exons
ENST00000342702 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002531835 | 102208603 | 102210527 |
| ENSE00002546532 | 102139897 | 102140172 |
| ENSE00003633323 | 102194938 | 102195120 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 99.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3474 / max 107.1139, expressed in 1805 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 141647 | 17.6070 | 1804 |
| 141646 | 0.4322 | 246 |
| 141648 | 0.3082 | 147 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.26 | gold quality |
| sperm | CL:0000019 | 95.91 | gold quality |
| oocyte | CL:0000023 | 95.79 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.23 | gold quality |
| left testis | UBERON:0004533 | 91.48 | gold quality |
| right testis | UBERON:0004534 | 91.36 | gold quality |
| cortical plate | UBERON:0005343 | 90.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.52 | gold quality |
| testis | UBERON:0000473 | 90.20 | gold quality |
| corpus callosum | UBERON:0002336 | 90.13 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.83 | gold quality |
| bone marrow cell | CL:0002092 | 89.60 | gold quality |
| oviduct epithelium | UBERON:0004804 | 89.50 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 88.47 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.11 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.98 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.65 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.62 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.53 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.41 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.26 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.24 | gold quality |
| adrenal gland | UBERON:0002369 | 87.03 | gold quality |
| sural nerve | UBERON:0015488 | 86.77 | gold quality |
| right uterine tube | UBERON:0001302 | 86.71 | gold quality |
| adrenal cortex | UBERON:0001235 | 86.65 | gold quality |
| monocyte | CL:0000576 | 86.57 | gold quality |
| jejunal mucosa | UBERON:0000399 | 86.56 | gold quality |
| leukocyte | CL:0000738 | 86.50 | 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)
56 targeting WDR20, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-519C-3P | 99.67 | 71.67 | 1870 |
Literature-anchored findings (GeneRIF, showing 6)
- WDR20 serves as a stimulatory subunit for preserving and regulating the activity of the subset of the UAF1 x USP12 complexes (PMID:20147737)
- our data suggest that downregulation of WDR20 due to 14q loss may be involved in the malignant transformation of ccRCCs, in part through activation of the ERK and protein kinase B/AKT pathways (PMID:26790128)
- UAF1 and WDR20 interact with USP12 at two distinct sites far from its catalytic center, allosterically activating the enzyme. (PMID:27373336)
- Results identified WDR20 as an important adaptor protein involved in ERAD system by promoting protein ubiquitination. (PMID:29655804)
- WDR20 plays a crucial role in as a “targeting subunit” that modulates CRM1-dependent shuttling of the USP12/UAF1/WDR20 complex between the plasma membrane, cytoplasm and nucleus. (PMID:30466959)
- WDR20 prevents hepatocellular carcinoma senescence by orchestrating the simultaneous USP12/46-mediated deubiquitination of c-Myc. (PMID:39432777)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr20b | ENSDARG00000041239 |
| danio_rerio | wdr20a | ENSDARG00000079220 |
| mus_musculus | Wdr20rt | ENSMUSG00000035560 |
| mus_musculus | Wdr20 | ENSMUSG00000037957 |
| rattus_norvegicus | Wdr20 | ENSRNOG00000007333 |
| drosophila_melanogaster | CG6420 | FBGN0039451 |
| caenorhabditis_elegans | WBGENE00007428 |
Paralogs (1): DMWD (ENSG00000185800)
Protein
Protein identifiers
WD repeat-containing protein 20 — Q8TBZ3 (reviewed: Q8TBZ3)
Alternative names: Protein DMR
All UniProt accessions (7): Q8TBZ3, A0A088AWN2, G3V5V2, H0YK31, H0YKE8, H0YNU0, Q5JPH5
UniProt curated annotations — full annotation on UniProt →
Function. Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12. Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic center of the enzyme. Regulates shuttling of the USP12 deubiquitinase complex between the plasma membrane, cytoplasm and nucleus.
Subunit / interactions. Interacts with USP12; promotes translocation of USP12/WDR20 to the plasma membrane. Component of the USP12/WDR20/WDR48 deubiquitinating complex. Interacts with USP46; contributes to the cytoplasmic localization of the USP46/WDR20 complex. Component of the USP12/DMWD/WDR48 deubiquitinating complex.
Subcellular location. Cytoplasm. Nucleus.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TBZ3-1 | 1 | yes |
| Q8TBZ3-2 | 2 | |
| Q8TBZ3-3 | 3 | |
| Q8TBZ3-4 | 4 | |
| Q8TBZ3-5 | 5 | |
| Q8TBZ3-6 | 6 | |
| Q8TBZ3-7 | 7 | |
| Q8TBZ3-8 | 8 |
RefSeq proteins (33): NP_001229343, NP_001229344, NP_001229345, NP_001229346, NP_001229347, NP_001307059, NP_001317157, NP_001340585, NP_001340586, NP_001340587, NP_001340588, NP_001340589, NP_001340590, NP_001340591, NP_001340592, NP_001340593, NP_001340594, NP_001340595, NP_001340596, NP_001340598, NP_001340600, NP_001340601, NP_001340602, NP_001340603, NP_001340604, NP_001340605, NP_001340606, NP_001340607, NP_001340609, NP_001340610, NP_653175, NP_851808, NP_851825 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051362 | WD_repeat_creC_regulators | Family |
Pfam: PF00400
UniProt features (80 total): strand 35, splice variant 7, repeat 7, modified residue 6, sequence conflict 5, turn 5, mutagenesis site 4, helix 3, region of interest 2, compositionally biased region 2, sequence variant 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5K19 | X-RAY DIFFRACTION | 2.6 |
| 5K1C | X-RAY DIFFRACTION | 3 |
| 6JLQ | X-RAY DIFFRACTION | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TBZ3-F1 | 78.40 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 2, 357, 360, 432, 434, 465
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 262 | impaired binding to usp12. does not induce plasma localization of usp12; when associated with a-306. |
| 306 | impaired binding to usp12. does not induce plasma localization of usp12; when associated with a-262. |
| 464 | induces partial relocation of wdr20 from the cytoplasm to the nucleus; when associated with a-466. |
| 466 | induces partial relocation of wdr20 from the cytoplasm to the nucleus; when associated with a-464. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689880 | Ub-specific processing proteases |
MSigDB gene sets: 0 (showing top):
GO Biological Process (0):
GO Molecular Function (2): deubiquitinase activator activity (GO:0035800), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| peptidase activator activity | 1 |
| deubiquitinase activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2556 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR20 | WDR48 | Q8TAF3 | 959 |
| WDR20 | USP12 | O75317 | 934 |
| WDR20 | USP46 | P62068 | 863 |
| WDR20 | USP1 | O94782 | 585 |
| WDR20 | USP14 | P54578 | 531 |
| WDR20 | DLK1 | P15803 | 518 |
| WDR20 | ZUP1 | Q96AP4 | 515 |
| WDR20 | ZNF839 | A8K0R7 | 485 |
| WDR20 | MCTS2 | A0A3B3IRV3 | 480 |
| WDR20 | FAM50B | Q9Y247 | 478 |
| WDR20 | DIO3 | P55073 | 476 |
| WDR20 | PHLPP1 | O60346 | 464 |
| WDR20 | PHLPP2 | Q6ZVD8 | 453 |
| WDR20 | HTT | P42858 | 448 |
| WDR20 | FRRS1L | Q9P0K9 | 447 |
IntAct
73 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| USP46 | WDR20 | psi-mi:“MI:0915”(physical association) | 0.800 |
| USP12 | WDR20 | psi-mi:“MI:0915”(physical association) | 0.800 |
| WDR20 | USP12 | psi-mi:“MI:0914”(association) | 0.800 |
| PHLPP2 | NHERF1 | psi-mi:“MI:0914”(association) | 0.760 |
| USP46 | PHLPP1 | psi-mi:“MI:0914”(association) | 0.740 |
| VSX1 | USP12 | psi-mi:“MI:0914”(association) | 0.730 |
| TMEM266 | KDM1A | psi-mi:“MI:0914”(association) | 0.670 |
| WDR20 | PHLPP1 | psi-mi:“MI:0914”(association) | 0.670 |
| WDR20 | YWHAH | psi-mi:“MI:0914”(association) | 0.640 |
| TSPYL6 | USP12 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| WDR20 | DAPP1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| DAPP1 | WDR20 | psi-mi:“MI:0915”(physical association) | 0.570 |
| USP12 | PHLPP1 | psi-mi:“MI:0914”(association) | 0.570 |
| PHLPP1 | USP12 | psi-mi:“MI:0914”(association) | 0.570 |
| WDR48 | USP12 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| RNF19B | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| RAD51AP1 | USP12 | psi-mi:“MI:0914”(association) | 0.530 |
| VSX2 | USP12 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM35 | MTA2 | psi-mi:“MI:0914”(association) | 0.530 |
| SGO1 | USP12 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| WDR20 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TYK2 | BAG2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (170): WDR20 (Affinity Capture-Western), WDR20 (Affinity Capture-Western), WDR20 (Two-hybrid), WDR20 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), WDR20 (Two-hybrid), DAPP1 (Affinity Capture-Luminescence), WDR20 (Proximity Label-MS), WDR20 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), WDR20 (Proximity Label-MS)
ESM2 similar proteins: A1CTE6, A1DMI8, A2QVV2, A5DHI9, A7UWE6, B0Y7H6, B8N4F5, B8PBQ6, G0S8H7, O94979, Q05B30, Q0CKB1, Q0CQ54, Q0J7U6, Q0UNC6, Q0WV90, Q10NY2, Q1DHE1, Q24246, Q24371, Q27GK7, Q2GSJ9, Q2KG01, Q2TAF3, Q2UBU2, Q2UM42, Q3UMY5, Q4IBR4, Q4WN25, Q4WQJ1, Q4WTC4, Q5BDU4, Q5BGR2, Q5E915, Q5NBT9, Q5QA94, Q5ZLG9, Q6C553, Q6DIP5, Q7RZI0
Diamond homologs: A1CTE6, A1DMI8, A2QVV2, B0Y7H6, B8N4F5, D9N129, P16649, P56094, Q08274, Q09019, Q0CKB1, Q10437, Q2HJH6, Q2UM42, Q4WN25, Q5RF51, Q5XIG8, Q6ZMW3, Q8TBZ3, Q96DI7, Q9P4R5, Q9VBC4, Q9Y3F4, Q9Z1Z2, Q9D5R2, F1SS88, O35242, Q09150, Q5F201, Q6C553, Q6PE01, Q6ZPG2, Q8N1V2, Q92636, Q95JL5, Q54PE0, C4R6H3, Q5EBD9, Q5SQM0, Q00664
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 81 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 |
|---|---|---|---|
| RHO GTPases activate PKNs | 5 | 28.3× | 4e-05 |
| SARS-CoV-2-host interactions | 5 | 10.6× | 1e-03 |
| Potential therapeutics for SARS | 5 | 10.2× | 1e-03 |
| SARS-CoV Infections | 8 | 7.9× | 1e-04 |
| Cell Cycle Checkpoints | 5 | 7.9× | 3e-03 |
| RHO GTPase Effectors | 6 | 7.3× | 1e-03 |
| SARS-CoV-2 Infection | 5 | 7.2× | 4e-03 |
| Transcriptional Regulation by TP53 | 6 | 6.7× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1269 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:102140161:G:GT | donor_gain | 1.0000 |
| 14:102194932:CTCCA:C | acceptor_loss | 1.0000 |
| 14:102194933:TCCA:T | acceptor_loss | 1.0000 |
| 14:102194934:CCA:C | acceptor_loss | 1.0000 |
| 14:102194935:CA:C | acceptor_loss | 1.0000 |
| 14:102194936:A:AG | acceptor_gain | 1.0000 |
| 14:102194936:AG:A | acceptor_gain | 1.0000 |
| 14:102194937:G:A | acceptor_loss | 1.0000 |
| 14:102194937:G:GG | acceptor_gain | 1.0000 |
| 14:102194937:GG:G | acceptor_gain | 1.0000 |
| 14:102194937:GGCT:G | acceptor_gain | 1.0000 |
| 14:102195116:AGGAA:A | donor_gain | 1.0000 |
| 14:102195117:GGAA:G | donor_gain | 1.0000 |
| 14:102195117:GGAAG:G | donor_gain | 1.0000 |
| 14:102195118:G:GT | donor_gain | 1.0000 |
| 14:102195118:GAA:G | donor_gain | 1.0000 |
| 14:102195121:G:GG | donor_gain | 1.0000 |
| 14:102140169:CAAG:C | donor_loss | 0.9900 |
| 14:102140170:AAGG:A | donor_loss | 0.9900 |
| 14:102140171:AGG:A | donor_loss | 0.9900 |
| 14:102140172:GG:G | donor_loss | 0.9900 |
| 14:102140174:T:A | donor_loss | 0.9900 |
| 14:102140204:GCGGC:G | donor_gain | 0.9900 |
| 14:102194936:AGGCT:A | acceptor_gain | 0.9900 |
| 14:102194937:GGC:G | acceptor_gain | 0.9900 |
| 14:102194937:GGCTG:G | acceptor_gain | 0.9900 |
| 14:102195118:GAAGT:G | donor_loss | 0.9900 |
| 14:102195119:AAGTA:A | donor_loss | 0.9900 |
| 14:102195120:AG:A | donor_loss | 0.9900 |
| 14:102195121:G:A | donor_loss | 0.9900 |
AlphaMissense
3762 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:102139973:T:C | F17S | 1.000 |
| 14:102139993:T:G | Y24D | 1.000 |
| 14:102140066:T:A | V48D | 1.000 |
| 14:102140127:T:A | N68K | 1.000 |
| 14:102140127:T:G | N68K | 1.000 |
| 14:102140141:T:C | L73P | 1.000 |
| 14:102194965:A:G | K93E | 1.000 |
| 14:102194966:A:T | K93I | 1.000 |
| 14:102194967:A:C | K93N | 1.000 |
| 14:102194967:A:T | K93N | 1.000 |
| 14:102194970:G:C | R94S | 1.000 |
| 14:102194970:G:T | R94S | 1.000 |
| 14:102194974:T:G | Y96D | 1.000 |
| 14:102194977:A:G | K97E | 1.000 |
| 14:102194978:A:T | K97I | 1.000 |
| 14:102194979:A:C | K97N | 1.000 |
| 14:102194979:A:T | K97N | 1.000 |
| 14:102194980:G:A | G98R | 1.000 |
| 14:102194980:G:C | G98R | 1.000 |
| 14:102194981:G:A | G98E | 1.000 |
| 14:102194990:C:A | P101H | 1.000 |
| 14:102194990:C:G | P101R | 1.000 |
| 14:102195041:T:C | L118P | 1.000 |
| 14:102195049:G:C | G121R | 1.000 |
| 14:102195050:G:A | G121D | 1.000 |
| 14:102195052:T:C | F122L | 1.000 |
| 14:102195053:T:C | F122S | 1.000 |
| 14:102195054:T:A | F122L | 1.000 |
| 14:102195054:T:G | F122L | 1.000 |
| 14:102195061:G:C | G125R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002600 (14:102182320 A>G), RS1000035258 (14:102181880 G>A), RS1000045271 (14:102180396 T>G), RS1000055689 (14:102139847 G>A), RS1000099013 (14:102174093 G>A,T), RS1000101687 (14:102147535 C>G), RS1000107987 (14:102213490 G>A), RS1000109496 (14:102154040 G>A,C), RS1000144814 (14:102188092 C>G,T), RS1000176671 (14:102224991 G>A,T), RS1000190959 (14:102162140 G>A), RS1000203485 (14:102191481 T>C), RS1000209593 (14:102157315 A>G), RS1000231711 (14:102197626 T>G), RS1000246283 (14:102184157 G>A)
Disease associations
OMIM: gene MIM:617741 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004621_74 | Red cell distribution width | 1.000000e-11 |
| GCST006804_160 | Red cell distribution width | 1.000000e-09 |
| GCST007656_14 | Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) | 1.000000e-11 |
| GCST90002385_35 | High light scatter reticulocyte count | 4.000000e-11 |
| GCST90002386_584 | High light scatter reticulocyte percentage of red cells | 2.000000e-10 |
| GCST90002400_146 | Plateletcrit | 2.000000e-10 |
| GCST90002405_377 | Reticulocyte count | 1.000000e-10 |
| GCST90002406_379 | Reticulocyte fraction of red cells | 2.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
| EFO:0007986 | reticulocyte count |
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL5291970 (PROTEIN COMPLEX), CHEMBL5291973 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bufotalin | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | decreases expression, affects binding | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression, decreases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Zinc | increases expression, affects cotreatment | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5251168 | Binding | Inhibition of USP46/UAF1/WDR20 (unknown origin) using ubiquitin rhodamine 110 as substrate at 1 to 10 uM by DUBprofiler fluorometric assay | Discovery and Characterization of BAY-805, a Potent and Selective Inhibitor of Ubiquitin-Specific Protease USP21. — J Med Chem |
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.