SNX33
gene geneOn this page
Also known as MGC32065SH3PXD3CSNX30
Summary
SNX33 (sorting nexin 33, HGNC:28468) is a protein-coding gene on chromosome 15q24.2, encoding Sorting nexin-33 (Q8WV41). Plays a role in the reorganization of the cytoskeleton, endocytosis and cellular vesicle trafficking via its interactions with membranes, WASL, DNM1 and DNM2.
The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 257364 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 86 total
- MANE Select transcript:
NM_153271
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28468 |
| Approved symbol | SNX33 |
| Name | sorting nexin 33 |
| Location | 15q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC32065, SH3PXD3C, SNX30 |
| Ensembl gene | ENSG00000173548 |
| Ensembl biotype | protein_coding |
| OMIM | 619107 |
| Entrez | 257364 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000308527, ENST00000569152
RefSeq mRNA: 2 — MANE Select: NM_153271
NM_001318146, NM_153271
CCDS: CCDS10283
Canonical transcript exons
ENST00000308527 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001208398 | 75647912 | 75650573 |
| ENSE00001876892 | 75656962 | 75662301 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 96.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1258 / max 73.9449, expressed in 1694 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147819 | 8.6909 | 1633 |
| 147818 | 1.4349 | 1050 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 96.35 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.17 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.01 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.68 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.66 | silver quality |
| parotid gland | UBERON:0001831 | 90.65 | gold quality |
| right coronary artery | UBERON:0001625 | 90.55 | gold quality |
| popliteal artery | UBERON:0002250 | 90.48 | gold quality |
| tibial artery | UBERON:0007610 | 90.46 | gold quality |
| aorta | UBERON:0000947 | 90.31 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.27 | gold quality |
| ascending aorta | UBERON:0001496 | 90.24 | gold quality |
| thoracic aorta | UBERON:0001515 | 90.21 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.02 | gold quality |
| ectocervix | UBERON:0012249 | 89.46 | gold quality |
| vagina | UBERON:0000996 | 88.91 | gold quality |
| skin of leg | UBERON:0001511 | 88.90 | gold quality |
| esophagus | UBERON:0001043 | 88.89 | gold quality |
| body of pancreas | UBERON:0001150 | 88.88 | gold quality |
| endocervix | UBERON:0000458 | 88.70 | gold quality |
| upper arm skin | UBERON:0004263 | 88.70 | silver quality |
| right ovary | UBERON:0002118 | 88.28 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.11 | gold quality |
| left ovary | UBERON:0002119 | 88.03 | gold quality |
| apex of heart | UBERON:0002098 | 87.82 | gold quality |
| left coronary artery | UBERON:0001626 | 87.76 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 87.72 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.58 | gold quality |
| mucosa of stomach | UBERON:0001199 | 87.52 | gold quality |
| zone of skin | UBERON:0000014 | 87.51 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
63 targeting SNX33, 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-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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
Literature-anchored findings (GeneRIF, showing 7)
- identifies SNX33 as a new endocytic protein, which modulates amyloid precursor protein endocytosis and APP alpha-secretase cleavage, and demonstrates that the rate of APP endocytosis is a major control factor for APP alpha-secretase cleavage (PMID:18353773)
- SNX33 interferes with cellular PrP formation by modulation of PrP shedding (PMID:18419754)
- SNX33 plays a role in maintaining cell shape and cell cycle progression through its interaction with WASp (PMID:19487689)
- Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins SNX33 and nephrocystin (PMID:19718658)
- study identifies critical amino acids within the BAR domains of SNX9 and SNX33 as determinants for the specificity of BAR domain-mediated interactions and suggests that SNX9 and SNX33 have distinct molecular functions. (PMID:20964629)
- The sorting nexin 9 (SNX9) subfamily members - SNX9, SNX18 and SNX33 - are required for progression and completion of mitosis. (PMID:22718350)
- [Donepezil Reduces Amyloid Precursor Protein Endocytosis by Resulting from Increase in the Expression of Sorting Nexin Protein 33]. (PMID:34078793)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snx33 | ENSDARG00000014954 |
| mus_musculus | Snx33 | ENSMUSG00000032733 |
| rattus_norvegicus | Snx33 | ENSRNOG00000017382 |
| drosophila_melanogaster | Snx1 | FBGN0031534 |
| drosophila_melanogaster | Snx6 | FBGN0032005 |
| caenorhabditis_elegans | WBGENE00004927 | |
| caenorhabditis_elegans | WBGENE00013354 |
Paralogs (15): SNX11 (ENSG00000002919), SNX1 (ENSG00000028528), SNX10 (ENSG00000086300), SNX5 (ENSG00000089006), SNX8 (ENSG00000106266), SNX3 (ENSG00000112335), SNX4 (ENSG00000114520), SNX6 (ENSG00000129515), SNX9 (ENSG00000130340), SNX12 (ENSG00000147164), SNX30 (ENSG00000148158), SNX7 (ENSG00000162627), SNX32 (ENSG00000172803), SNX18 (ENSG00000178996), SNX2 (ENSG00000205302)
Protein
Protein identifiers
Sorting nexin-33 — Q8WV41 (reviewed: Q8WV41)
Alternative names: SH3 and PX domain-containing protein 3
All UniProt accessions (2): Q8WV41, H3BPR3
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the reorganization of the cytoskeleton, endocytosis and cellular vesicle trafficking via its interactions with membranes, WASL, DNM1 and DNM2. Acts both during interphase and at the end of mitotic cell divisions. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Modulates endocytosis of cell-surface proteins, such as APP and PRNP; this then modulates the secretion of APP and PRNP peptides. Promotes membrane tubulation (in vitro). May promote the formation of macropinosomes.
Subunit / interactions. Homodimer (via BAR domain). Interacts with ADAM15. Interacts with FASLG. Interacts (via SH3 domain) with DNM1 and DNM2. Interacts with WASL. Interacts with FCHSD1 (via the F-BAR domain).
Subcellular location. Cytoplasm. Cytosol. Membrane. Cytoplasmic vesicle membrane.
Tissue specificity. Detected in heart and pancreas.
Post-translational modifications. Phosphorylated.
Domain organisation. The PX and BAR domains mediate association with membranes and are required for membrane tubulation.
Similarity. Belongs to the sorting nexin family.
RefSeq proteins (2): NP_001305075, NP_695003* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR001683 | PX_dom | Domain |
| IPR014536 | Snx9_fam | Family |
| IPR019497 | Sorting_nexin_WASP-bd-dom | Domain |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR037427 | SNX33_BAR | Domain |
Pfam: PF00787, PF10456, PF14604
UniProt features (30 total): helix 14, strand 7, domain 3, modified residue 2, chain 1, turn 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4AKV | X-RAY DIFFRACTION | 2.65 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WV41-F1 | 82.62 | 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.
Post-translational modifications (2): 77, 92
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 368 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_MITOTIC_CYTOKINESIS, GGGACCA_MIR133A_MIR133B, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_PINOCYTOSIS, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_VESICLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_VACUOLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS
GO Biological Process (17): mitotic cytokinesis (GO:0000281), intracellular protein transport (GO:0006886), endocytosis (GO:0006897), endosome organization (GO:0007032), endosomal transport (GO:0016197), protein import (GO:0017038), cleavage furrow formation (GO:0036089), macropinocytosis (GO:0044351), negative regulation of endocytosis (GO:0045806), positive regulation of membrane protein ectodomain proteolysis (GO:0051044), plasma membrane tubulation (GO:0097320), negative regulation of protein localization to cell surface (GO:2000009), positive regulation of protein localization to cell surface (GO:2000010), mitotic cell cycle (GO:0000278), positive regulation of catabolic process (GO:0009896), protein transport (GO:0015031), cell division (GO:0051301)
GO Molecular Function (3): phosphatidylinositol binding (GO:0035091), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (6): cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoskeleton-dependent cytokinesis | 2 |
| intracellular protein localization | 2 |
| protein transport | 2 |
| intracellular transport | 2 |
| vesicle-mediated transport | 2 |
| protein localization to cell surface | 2 |
| regulation of protein localization to cell surface | 2 |
| cytoplasm | 2 |
| mitotic cell cycle | 1 |
| mitotic cell cycle process | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| import into cell | 1 |
| endomembrane system organization | 1 |
| vesicle organization | 1 |
| cytokinetic process | 1 |
| plasma membrane invagination | 1 |
| pinocytosis | 1 |
| endocytosis | 1 |
| regulation of endocytosis | 1 |
| negative regulation of transport | 1 |
| negative regulation of cellular component organization | 1 |
| membrane protein ectodomain proteolysis | 1 |
| positive regulation of protein catabolic process | 1 |
| positive regulation of proteolysis | 1 |
| regulation of membrane protein ectodomain proteolysis | 1 |
| plasma membrane organization | 1 |
| negative regulation of protein localization | 1 |
| positive regulation of protein localization | 1 |
| cell cycle | 1 |
| mitotic nuclear division | 1 |
| catabolic process | 1 |
| positive regulation of metabolic process | 1 |
| regulation of catabolic process | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| anion binding | 1 |
| protein binding | 1 |
Protein interactions and networks
STRING
754 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNX33 | ENC1 | O14682 | 642 |
| SNX33 | SNX12 | Q9UMY4 | 638 |
| SNX33 | SNX32 | Q86XE0 | 637 |
| SNX33 | SNX6 | Q9UNH7 | 631 |
| SNX33 | SNX17 | Q15036 | 610 |
| SNX33 | SNX15 | Q9NRS6 | 608 |
| SNX33 | SNX5 | Q9Y5X3 | 585 |
| SNX33 | SNX4 | O95219 | 559 |
| SNX33 | CIBAR2 | Q6ZTR7 | 519 |
| SNX33 | GPR85 | P60893 | 515 |
| SNX33 | DNM1 | Q05193 | 513 |
| SNX33 | BACE1 | P56817 | 505 |
| SNX33 | SNX27 | Q96L92 | 500 |
| SNX33 | AMPH | P49418 | 487 |
| SNX33 | SNX11 | Q9Y5W9 | 477 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANKRD54 | TULP3 | psi-mi:“MI:0914”(association) | 0.930 |
| FASLG | SNX33 | psi-mi:“MI:0915”(physical association) | 0.780 |
| DNM2 | DNM1 | psi-mi:“MI:0914”(association) | 0.740 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| ADAM15 | SNX33 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| ADAM15 | SNX33 | psi-mi:“MI:0915”(physical association) | 0.710 |
| SNX33 | NAF1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NAA10 | SNX33 | psi-mi:“MI:0915”(physical association) | 0.670 |
| YWHAG | SNX33 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DNM2 | SNX33 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GPR156 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| FASLG | PRMT2 | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| NCKIPSD | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
| PPP2R3A | WTIP | psi-mi:“MI:0914”(association) | 0.640 |
| DNM1 | SNX33 | psi-mi:“MI:0915”(physical association) | 0.640 |
| SNX33 | DNM1 | psi-mi:“MI:0915”(physical association) | 0.640 |
| SNX33 | SNX33 | psi-mi:“MI:0915”(physical association) | 0.590 |
| SNX33 | SNX9 | psi-mi:“MI:0915”(physical association) | 0.590 |
BioGRID (83): SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS), SNX33 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B7YDZ4, B1H267, I1RXT2, O14243, O60107, O74960, O94447, P0CR58, P0CR59, P0CR62, P0CR63, P0CR64, P0CR65, P32912, P32913, P40531, P40959, P47057, Q09746, Q10253, Q28GP7, Q3ZBM5, Q4PHC3, Q4VAA7, Q4WQI6, Q522W5, Q5B797, Q5R613, Q6C238, Q6C9X0, Q6CGJ5, Q6CHY6, Q6CTQ0, Q6CUC4, Q6FPT9, Q6NRL2, Q6P8X1, Q759T1, Q75B65, Q75C43
Diamond homologs: A1A4L0, O14120, O60107, O60493, O70492, O70493, O94291, O95219, P0C220, P0CR60, P0CR61, P40959, Q04053, Q08DD7, Q1RMH8, Q28GP7, Q2KHV6, Q2U4K2, Q3MPQ4, Q4I1H6, Q4P1V3, Q4PHC3, Q4VAA7, Q4WWS3, Q4WZF1, Q59TN9, Q5A748, Q5AD77, Q5AZC9, Q5R4C2, Q5R5V1, Q5R7A7, Q5R9A9, Q5U211, Q6BIS2, Q6BZE1, Q6C2S9, Q6CHY6, Q6CUC4, Q6CWX3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 80 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 |
|---|---|---|---|
| Degradation of the extracellular matrix | 6 | 16.1× | 3e-04 |
| Extracellular matrix organization | 11 | 15.8× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| receptor-mediated endocytosis | 5 | 16.1× | 2e-03 |
| endocytosis | 8 | 11.0× | 2e-04 |
| cell migration | 7 | 6.2× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
86 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
627 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:75657196:GCAT:G | donor_gain | 1.0000 |
| 15:75657200:G:GG | donor_gain | 1.0000 |
| 15:75648098:T:G | donor_gain | 0.9900 |
| 15:75650572:AGG:A | donor_loss | 0.9900 |
| 15:75650573:GGT:G | donor_loss | 0.9900 |
| 15:75650575:T:A | donor_loss | 0.9900 |
| 15:75656956:T:G | acceptor_gain | 0.9900 |
| 15:75656958:CCA:C | acceptor_loss | 0.9900 |
| 15:75656960:A:AG | acceptor_gain | 0.9900 |
| 15:75656961:G:A | acceptor_loss | 0.9900 |
| 15:75656961:G:GG | acceptor_gain | 0.9900 |
| 15:75656961:GGC:G | acceptor_gain | 0.9900 |
| 15:75657197:C:T | donor_gain | 0.9900 |
| 15:75656955:A:AG | acceptor_gain | 0.9800 |
| 15:75656956:T:TA | acceptor_gain | 0.9800 |
| 15:75656960:AGGC:A | acceptor_gain | 0.9800 |
| 15:75656961:GGCG:G | acceptor_gain | 0.9800 |
| 15:75656961:GGCGC:G | acceptor_gain | 0.9800 |
| 15:75648310:T:TA | donor_gain | 0.9700 |
| 15:75648423:AGT:A | donor_gain | 0.9700 |
| 15:75656950:T:TA | acceptor_gain | 0.9700 |
| 15:75648102:GTGT:G | donor_gain | 0.9600 |
| 15:75648265:G:C | donor_gain | 0.9600 |
| 15:75656955:AT:A | acceptor_gain | 0.9600 |
| 15:75647912:G:A | donor_gain | 0.9500 |
| 15:75648082:T:A | donor_gain | 0.9500 |
| 15:75648133:GGGTC:G | donor_gain | 0.9500 |
| 15:75648134:GGTCG:G | donor_gain | 0.9500 |
| 15:75648335:T:TA | donor_gain | 0.9500 |
| 15:75650411:G:GC | acceptor_gain | 0.9500 |
AlphaMissense
3859 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:75649133:T:C | F11L | 1.000 |
| 15:75649135:T:A | F11L | 1.000 |
| 15:75649135:T:G | F11L | 1.000 |
| 15:75649214:T:A | W38R | 1.000 |
| 15:75649214:T:C | W38R | 1.000 |
| 15:75649248:G:A | G49E | 1.000 |
| 15:75649658:T:C | F186L | 1.000 |
| 15:75649660:C:A | F186L | 1.000 |
| 15:75649660:C:G | F186L | 1.000 |
| 15:75649769:T:A | W223R | 1.000 |
| 15:75649769:T:C | W223R | 1.000 |
| 15:75649771:G:C | W223C | 1.000 |
| 15:75649771:G:T | W223C | 1.000 |
| 15:75649826:A:G | K242E | 1.000 |
| 15:75649828:A:C | K242N | 1.000 |
| 15:75649828:A:T | K242N | 1.000 |
| 15:75649830:T:C | F243S | 1.000 |
| 15:75649841:A:G | K247E | 1.000 |
| 15:75649842:A:T | K247I | 1.000 |
| 15:75649843:A:C | K247N | 1.000 |
| 15:75649843:A:T | K247N | 1.000 |
| 15:75649847:T:G | Y249D | 1.000 |
| 15:75649856:T:C | Y252H | 1.000 |
| 15:75649856:T:G | Y252D | 1.000 |
| 15:75649898:C:A | R266S | 1.000 |
| 15:75649898:C:G | R266G | 1.000 |
| 15:75649901:T:C | Y267H | 1.000 |
| 15:75649901:T:G | Y267D | 1.000 |
| 15:75649904:A:G | K268E | 1.000 |
| 15:75649905:A:T | K268I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000117540 (15:75648477 AC>A), RS1000185994 (15:75660997 G>A), RS1000813448 (15:75659719 C>G), RS1001179303 (15:75654209 C>A), RS1001270659 (15:75647419 A>C), RS1001408101 (15:75658055 T>C), RS1001488948 (15:75652264 C>T), RS1001500411 (15:75651895 T>G), RS1001618212 (15:75646294 C>T), RS1001754537 (15:75658504 C>T), RS1002355191 (15:75656885 C>T), RS1002755378 (15:75647774 T>A,C,G), RS1002989227 (15:75646246 T>G), RS1003117886 (15:75652537 G>A), RS1003303485 (15:75657488 C>A,T)
Disease associations
OMIM: gene MIM:619107 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007876_30 | Estimated glomerular filtration rate | 3.000000e-25 |
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 |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 4 |
| FR900359 | increases phosphorylation | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Oxygen | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 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.