WDR41
gene geneOn this page
Also known as FLJ10904
Summary
WDR41 (WD repeat domain 41, HGNC:25601) is a protein-coding gene on chromosome 5q13.3-q14.1, encoding WD repeat-containing protein 41 (Q9HAD4). Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy.
Enables GTPase activator activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in regulation of autophagy. Located in cytoplasm. Part of guanyl-nucleotide exchange factor complex.
Source: NCBI Gene 55255 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 85 total
- MANE Select transcript:
NM_018268
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25601 |
| Approved symbol | WDR41 |
| Name | WD repeat domain 41 |
| Location | 5q13.3-q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10904 |
| Ensembl gene | ENSG00000164253 |
| Ensembl biotype | protein_coding |
| OMIM | 617502 |
| Entrez | 55255 |
Gene structure
Transcript identifiers
Ensembl transcripts: 37 — 19 protein_coding, 9 protein_coding_CDS_not_defined, 7 nonsense_mediated_decay, 2 retained_intron
ENST00000296679, ENST00000502528, ENST00000503035, ENST00000504895, ENST00000505129, ENST00000506307, ENST00000506474, ENST00000507029, ENST00000507239, ENST00000507452, ENST00000507654, ENST00000508154, ENST00000509701, ENST00000509858, ENST00000509892, ENST00000509971, ENST00000511036, ENST00000511630, ENST00000511791, ENST00000512033, ENST00000512168, ENST00000513417, ENST00000513917, ENST00000514451, ENST00000514559, ENST00000514878, ENST00000515253, ENST00000515321, ENST00000862580, ENST00000862581, ENST00000862582, ENST00000862583, ENST00000912488, ENST00000912489, ENST00000955388, ENST00000955389, ENST00000955390
RefSeq mRNA: 1 — MANE Select: NM_018268
NM_018268
CCDS: CCDS4038
Canonical transcript exons
ENST00000296679 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001595103 | 77430933 | 77433287 |
| ENSE00002020309 | 77492170 | 77492316 |
| ENSE00003464277 | 77463095 | 77463226 |
| ENSE00003467542 | 77459062 | 77459124 |
| ENSE00003493326 | 77437336 | 77437424 |
| ENSE00003507110 | 77464761 | 77464809 |
| ENSE00003518823 | 77436261 | 77436394 |
| ENSE00003557223 | 77489457 | 77489572 |
| ENSE00003571430 | 77440813 | 77440997 |
| ENSE00003625626 | 77438240 | 77438361 |
| ENSE00003643483 | 77453817 | 77453928 |
| ENSE00003646662 | 77449760 | 77449870 |
| ENSE00003786986 | 77451291 | 77451353 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 96.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9994 / max 354.5567, expressed in 1820 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62181 | 14.6227 | 1789 |
| 62185 | 4.4410 | 1361 |
| 62182 | 2.2641 | 1176 |
| 62184 | 1.6061 | 849 |
| 62183 | 1.0438 | 628 |
| 62187 | 0.0217 | 6 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.98 | gold quality |
| ventricular zone | UBERON:0003053 | 95.90 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.68 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.31 | gold quality |
| endothelial cell | CL:0000115 | 95.02 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.07 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.92 | gold quality |
| tendon | UBERON:0000043 | 93.87 | gold quality |
| right testis | UBERON:0004534 | 93.72 | gold quality |
| cortical plate | UBERON:0005343 | 93.49 | gold quality |
| oocyte | CL:0000023 | 93.34 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.32 | gold quality |
| left testis | UBERON:0004533 | 93.31 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.28 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.23 | gold quality |
| ascending aorta | UBERON:0001496 | 93.22 | gold quality |
| monocyte | CL:0000576 | 93.19 | gold quality |
| testis | UBERON:0000473 | 93.13 | gold quality |
| mononuclear cell | CL:0000842 | 93.01 | gold quality |
| corpus callosum | UBERON:0002336 | 92.86 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.80 | gold quality |
| leukocyte | CL:0000738 | 92.69 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.65 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 92.65 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.34 | gold quality |
| aorta | UBERON:0000947 | 91.84 | gold quality |
| sperm | CL:0000019 | 91.77 | gold quality |
| embryo | UBERON:0000922 | 91.77 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.74 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.66 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.42 |
| E-GEOD-111727 | no | 484.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
101 targeting WDR41, 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-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-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-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 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-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
Literature-anchored findings (GeneRIF, showing 7)
- The peak of association was found in and around two genes, WDR41 and PDE8B, involved in dopamine signaling and development. (PMID:21502949)
- Study describes the identification of two binding partners for C9orf72: SMCR8 and WDR41 and demonstrated that C9orf72/SMCR8/WDR41 interacts with the FIP200/Ulk1/ATG13/ATG101 complex. (PMID:27193190)
- Study reveals an essential role for WDR41 in supporting the regulated binding of C9orf72 to lysosomes and solidifies the requirement for a larger C9orf72 containing protein complex in coordinating lysosomal responses to changes in amino acid availability. (PMID:29995611)
- Our study not only illustrates the basis of C9ORF72-SMCR8-WDR41 complex assembly but also reveals the GAP activity of the C9ORF72-SMCR8 complex (PMID:32303654)
- Aberrant methylation of WD-repeat protein 41 contributes to tumour progression in triple-negative breast cancer. (PMID:32394588)
- Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD. (PMID:32848248)
- Receptor-like role for PQLC2 amino acid transporter in the lysosomal sensing of cationic amino acids. (PMID:33597295)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr41 | ENSDARG00000009851 |
| mus_musculus | Wdr41 | ENSMUSG00000042015 |
| rattus_norvegicus | Wdr41 | ENSRNOG00000025462 |
Protein
Protein identifiers
WD repeat-containing protein 41 — Q9HAD4 (reviewed: Q9HAD4)
All UniProt accessions (18): A0A0S2Z5D8, Q9HAD4, A0A0S2Z5E0, B4DHS8, B4DK73, D6R9E7, D6R9M1, D6RA22, D6RB94, D6RBY6, D6RE66, D6RGW4, D6RH33, D6RIX6, D6RJA5, H0Y9Z3, H0YAA3, H0YAI6
UniProt curated annotations — full annotation on UniProt →
Function. Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro, however WDR42 is shown not be an essential complex component for this function. The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and inhibiting its protein kinase activity.
Subunit / interactions. Component of the C9orf72-SMCR8 complex, at least composed of C9orf72, SMCR8 and WDR41. The complex is formed of two protomers, each individually consisting of one molecule each of C9orf72, SMCR8 and WDR41. The protomers homodimerize via an interaction between C9orf72 (via C-terminus) and SMCR8 (via N-terminus). Within each protomer SMCR8 (via DENN domain) acts as a bridging protein between WDR41 (via C-terminus and N-terminus) and C9orf72 (via C-terminus). The C9orf72-SMCR8 complex associates with the ULK1/ATG1 kinase complex.
Subcellular location. Cytoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HAD4-1 | 1 | yes |
| Q9HAD4-2 | 2 |
RefSeq proteins (1): NP_060738* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR040102 | WDR41 | Family |
Pfam: PF25178
UniProt features (54 total): strand 31, repeat 6, mutagenesis site 6, turn 4, sequence variant 3, chain 1, sequence conflict 1, helix 1, splice variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8W3V | X-RAY DIFFRACTION | 2.2 |
| 6LT0 | ELECTRON MICROSCOPY | 3.2 |
| 6V4U | ELECTRON MICROSCOPY | 3.8 |
| 7MGE | ELECTRON MICROSCOPY | 3.94 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HAD4-F1 | 82.43 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 438 | no effect on interaction with smcr8. |
| 441 | no effect on interaction with smcr8. |
| 442 | no effect on interaction with smcr8. |
| 445 | reduces interaction with the c9orf72-smcr8 complex; when associated with r-449. no effect on interaction with smcr8. |
| 446 | no effect on interaction with smcr8. |
| 449 | reduces interaction with the c9orf72-smcr8 complex; when associated with r-445. no effect on interaction with smcr8. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 130 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOCC_VACUOLAR_MEMBRANE, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_EXOCYTOSIS, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_SECRETION, GOBP_SECRETION, GOBP_REGULATION_OF_TRANSPORT
GO Biological Process (4): autophagy (GO:0006914), regulation of autophagy (GO:0010506), negative regulation of exocytosis (GO:0045920), negative regulation of immune response (GO:0050777)
GO Molecular Function (3): GTPase activator activity (GO:0005096), guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), guanyl-nucleotide exchange factor complex (GO:0032045)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| GTPase regulator activity | 2 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| autophagy | 1 |
| regulation of catabolic process | 1 |
| exocytosis | 1 |
| regulation of exocytosis | 1 |
| negative regulation of secretion by cell | 1 |
| negative regulation of immune system process | 1 |
| immune response | 1 |
| negative regulation of response to stimulus | 1 |
| regulation of immune response | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| intracellular protein-containing complex | 1 |
Protein interactions and networks
STRING
2324 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR41 | SMCR8 | Q8TEV9 | 998 |
| WDR41 | C9orf72 | Q96LT7 | 995 |
| WDR41 | RAB1A | P11476 | 724 |
| WDR41 | RAB39B | Q96DA2 | 723 |
| WDR41 | MADD | Q8WXG6 | 715 |
| WDR41 | ATG101 | Q9BSB4 | 712 |
| WDR41 | RAI1 | Q7Z5J4 | 699 |
| WDR41 | RAB8A | P24407 | 639 |
| WDR41 | RAB29 | O14966 | 637 |
| WDR41 | OPTN | Q96CV9 | 593 |
| WDR41 | RB1CC1 | Q8TDY2 | 589 |
| WDR41 | RAB33A | Q14088 | 580 |
| WDR41 | RAB5A | P20339 | 577 |
| WDR41 | FLCN | Q8NFG4 | 556 |
| WDR41 | SLC66A1 | Q6ZP29 | 546 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C9orf72 | SMCR8 | psi-mi:“MI:2252”(guanine nucleotide exchange factor reaction) | 0.850 |
| C9orf72 | SMCR8 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.850 |
| C9orf72 | SMCR8 | psi-mi:“MI:0914”(association) | 0.850 |
| RB1CC1 | ATG13 | psi-mi:“MI:0914”(association) | 0.820 |
| C9orf72 | ATG13 | psi-mi:“MI:0914”(association) | 0.690 |
| DNAJC7 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC27A6 | TTC4 | psi-mi:“MI:0914”(association) | 0.640 |
| C9orf72 | SMCR8 | psi-mi:“MI:0914”(association) | 0.620 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| C9orf72 | ULK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.570 |
| TKT | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| PICK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| MRAP2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN5 | SC5D | psi-mi:“MI:0914”(association) | 0.530 |
| C9orf72 | RAB8A | psi-mi:“MI:2252”(guanine nucleotide exchange factor reaction) | 0.440 |
| SQSTM1 | WDR41 | psi-mi:“MI:0915”(physical association) | 0.400 |
| OPTN | WDR41 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TSPAN5 | KLHL2 | psi-mi:“MI:0914”(association) | 0.350 |
| MRAP2 | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| APBB2 | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| KRTCAP3 | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP13A3 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| MCM5 | WDR62 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A6 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (168): WDR41 (Affinity Capture-MS), WDR41 (Affinity Capture-MS), WDR41 (Proximity Label-MS), WDR41 (Proximity Label-MS), WDR41 (Proximity Label-MS), WDR41 (Proximity Label-MS), WDR41 (Affinity Capture-MS), WDR41 (Affinity Capture-MS), WDR41 (Affinity Capture-MS), WDR41 (Affinity Capture-MS), WDR41 (Affinity Capture-MS), WDR41 (Affinity Capture-MS), WDR41 (Affinity Capture-Western), WDR41 (Reconstituted Complex), WDR41 (Proximity Label-MS)
ESM2 similar proteins: A0JM23, A0JP70, B2RZ17, E1BVR9, O14727, O54927, O88879, O94952, P0CI65, Q08BB3, Q08DV6, Q13309, Q32KQ2, Q3U3W5, Q3U821, Q3UDP0, Q3UMR0, Q3UR70, Q58D00, Q5R5S1, Q5REW9, Q5XJS5, Q60584, Q68EI0, Q6AX81, Q6AZT7, Q6DFC6, Q6P1V3, Q6P2P2, Q6P2S7, Q6ZMY6, Q7T2F6, Q7TNH6, Q7Z494, Q8BHD1, Q8C5V5, Q8IWA0, Q8NA23, Q8VDH1, Q96NW4
Diamond homologs: A1CF18, A1CUD6, A4IIX9, A8XZJ9, B6HP56, B6QC06, B6QC56, C0NRC6, C6HTE8, D1ZEB4, D5GBI7, O14011, O22785, O94289, P07834, P20053, P32523, P43254, P49846, P74598, Q08E38, Q09715, Q0U1B1, Q10051, Q12220, Q28D01, Q2GT28, Q2HBX6, Q2KJJ5, Q4ICM0, Q54ZP5, Q5R650, Q5ZMA2, Q6CG48, Q6DDF0, Q6GM65, Q7K0L4, Q7KWK5, Q7RY30, Q8C4J7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 64 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 |
|---|---|---|---|
| regulation of autophagy | 5 | 21.1× | 9e-04 |
| positive regulation of autophagy | 5 | 18.2× | 1e-03 |
| protein autophosphorylation | 6 | 15.3× | 9e-04 |
| autophagy | 6 | 11.6× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2485 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:77426443:A:AG | acceptor_gain | 1.0000 |
| 5:77426444:G:GG | acceptor_gain | 1.0000 |
| 5:77426444:GC:G | acceptor_gain | 1.0000 |
| 5:77426444:GCC:G | acceptor_gain | 1.0000 |
| 5:77426444:GCCT:G | acceptor_gain | 1.0000 |
| 5:77426444:GCCTT:G | acceptor_gain | 1.0000 |
| 5:77433285:CAT:C | acceptor_gain | 1.0000 |
| 5:77436262:T:TA | donor_gain | 1.0000 |
| 5:77449753:AGCTT:A | donor_loss | 1.0000 |
| 5:77449754:GCTT:G | donor_loss | 1.0000 |
| 5:77449755:CTTAC:C | donor_loss | 1.0000 |
| 5:77449756:TTAC:T | donor_loss | 1.0000 |
| 5:77449757:T:TG | donor_loss | 1.0000 |
| 5:77449758:ACCAT:A | donor_loss | 1.0000 |
| 5:77449759:C:CG | donor_loss | 1.0000 |
| 5:77449866:AATTA:A | acceptor_gain | 1.0000 |
| 5:77449867:ATTA:A | acceptor_gain | 1.0000 |
| 5:77449868:TTA:T | acceptor_gain | 1.0000 |
| 5:77449869:TA:T | acceptor_gain | 1.0000 |
| 5:77449871:C:CC | acceptor_gain | 1.0000 |
| 5:77451357:C:CT | acceptor_gain | 1.0000 |
| 5:77451358:A:T | acceptor_gain | 1.0000 |
| 5:77451364:A:C | acceptor_gain | 1.0000 |
| 5:77463099:A:C | donor_gain | 1.0000 |
| 5:77489579:T:C | acceptor_gain | 1.0000 |
| 5:77489579:T:TC | acceptor_gain | 1.0000 |
| 5:77490642:T:TA | donor_gain | 1.0000 |
| 5:77426442:CAG:C | acceptor_loss | 0.9900 |
| 5:77426443:A:C | acceptor_loss | 0.9900 |
| 5:77426444:G:GT | acceptor_loss | 0.9900 |
AlphaMissense
2988 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:77433224:A:G | W431R | 0.998 |
| 5:77433224:A:T | W431R | 0.998 |
| 5:77437389:C:G | R347P | 0.998 |
| 5:77433253:G:T | T421K | 0.997 |
| 5:77437384:A:G | W349R | 0.997 |
| 5:77437384:A:T | W349R | 0.997 |
| 5:77464772:A:G | W69R | 0.997 |
| 5:77464772:A:T | W69R | 0.997 |
| 5:77433253:G:C | T421R | 0.996 |
| 5:77437402:C:G | D343H | 0.996 |
| 5:77433222:C:A | W431C | 0.995 |
| 5:77433222:C:G | W431C | 0.995 |
| 5:77433223:C:G | W431S | 0.995 |
| 5:77433235:A:G | L427P | 0.995 |
| 5:77433241:T:A | D425V | 0.995 |
| 5:77433242:C:G | D425H | 0.995 |
| 5:77433247:G:A | S423F | 0.995 |
| 5:77437408:A:G | S341P | 0.995 |
| 5:77433249:G:C | C422W | 0.994 |
| 5:77453898:A:G | W148R | 0.994 |
| 5:77453898:A:T | W148R | 0.994 |
| 5:77463178:C:G | A89P | 0.994 |
| 5:77464798:G:T | A60D | 0.994 |
| 5:77433247:G:T | S423Y | 0.993 |
| 5:77433251:A:G | C422R | 0.993 |
| 5:77436276:G:C | H404Q | 0.993 |
| 5:77436276:G:T | H404Q | 0.993 |
| 5:77436280:C:T | G403E | 0.993 |
| 5:77464801:G:T | S59Y | 0.993 |
| 5:77464802:A:G | S59P | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000003397 (5:77575635 G>A,C), RS1000019289 (5:77605680 C>T), RS1000031760 (5:77481463 G>A), RS1000104874 (5:77481166 C>T), RS1000105631 (5:77470892 C>A), RS1000111716 (5:77569394 G>C,T), RS1000140776 (5:77536183 C>T), RS1000153420 (5:77515153 T>C), RS1000174814 (5:77471791 T>A,C), RS1000195811 (5:77550002 G>T), RS1000196407 (5:77593235 G>T), RS1000233677 (5:77567107 C>T), RS1000293873 (5:77529066 T>A,C,G), RS1000311230 (5:77485516 C>G), RS1000335745 (5:77463211 A>C,G)
Disease associations
OMIM: gene MIM:617502 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001045_2 | Caudate nucleus volume | 2.000000e-07 |
| GCST004210_3 | Body fat percentage | 3.000000e-09 |
| GCST008058_185 | Estimated glomerular filtration rate | 4.000000e-06 |
| GCST010295_1 | Response to valproic acid in genetic generalized epilepsy | 5.000000e-06 |
| GCST010396_288 | Gut microbiota (bacterial taxa, hurdle binary method) | 4.000000e-08 |
| GCST010396_76 | Gut microbiota (bacterial taxa, hurdle binary method) | 8.000000e-07 |
| GCST012431_5 | Parkinson’s disease | 2.000000e-08 |
| GCST012489_24 | Heel bone mineral density x serum urate levels interaction | 1.000000e-10 |
| GCST90011899_68 | Aspartate aminotransferase levels | 3.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007800 | body fat percentage |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
| 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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, affects expression, decreases expression | 4 |
| Cyclosporine | increases expression | 3 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| terbufos | increases methylation | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| erastin | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Parathion | increases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Vanadates | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2LC | Abcam HeLa WDR41 KO | Cancer cell line | Female |
| CVCL_E2NZ | HAP1 WDR41 (-) 1 | Cancer cell line | Male |
| CVCL_E2P0 | HAP1 WDR41 (-) 2 | 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.