ANAPC13
gene geneOn this page
Also known as SWM1APC13DKFZP566D193
Summary
ANAPC13 (anaphase promoting complex subunit 13, HGNC:24540) is a protein-coding gene on chromosome 3q22.2, encoding Anaphase-promoting complex subunit 13 (Q9BS18). Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. It is a selective cancer dependency (DepMap: 65.5% of cell lines).
This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined.
Source: NCBI Gene 25847 — RefSeq curated summary.
At a glance
- GWAS associations: 24
- Clinical variants (ClinVar): 17 total — 2 pathogenic
- Cancer dependency (DepMap): dependent in 65.5% of screened cell lines
- MANE Select transcript:
NM_015391
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24540 |
| Approved symbol | ANAPC13 |
| Name | anaphase promoting complex subunit 13 |
| Location | 3q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SWM1, APC13, DKFZP566D193 |
| Ensembl gene | ENSG00000129055 |
| Ensembl biotype | protein_coding |
| OMIM | 614484 |
| Entrez | 25847 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 18 protein_coding, 2 retained_intron
ENST00000354910, ENST00000503439, ENST00000508755, ENST00000510994, ENST00000511751, ENST00000514612, ENST00000891857, ENST00000891858, ENST00000891859, ENST00000891860, ENST00000891861, ENST00000891862, ENST00000891863, ENST00000891864, ENST00000891865, ENST00000924686, ENST00000924687, ENST00000924688, ENST00000961476, ENST00000961477
RefSeq mRNA: 3 — MANE Select: NM_015391
NM_001242374, NM_001242375, NM_015391
CCDS: CCDS3085
Canonical transcript exons
ENST00000354910 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000885901 | 134482806 | 134482931 |
| ENSE00001413445 | 134485952 | 134485985 |
| ENSE00002078678 | 134477706 | 134478715 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 98.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.0085 / max 775.5929, expressed in 1813 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44707 | 26.5400 | 1806 |
| 44706 | 4.8023 | 1632 |
| 44704 | 2.1221 | 1083 |
| 44705 | 0.3713 | 151 |
| 44703 | 0.1728 | 60 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nephron tubule | UBERON:0001231 | 98.72 | gold quality |
| parotid gland | UBERON:0001831 | 98.52 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.50 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.43 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.10 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.05 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.01 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.98 | gold quality |
| caput epididymis | UBERON:0004358 | 97.96 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 97.84 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.76 | gold quality |
| renal medulla | UBERON:0000362 | 97.72 | gold quality |
| myocardium | UBERON:0002349 | 97.69 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.39 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.38 | gold quality |
| metanephros | UBERON:0000081 | 97.37 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.28 | gold quality |
| hypothalamus | UBERON:0001898 | 97.24 | gold quality |
| upper leg skin | UBERON:0004262 | 97.16 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 97.15 | gold quality |
| visceral pleura | UBERON:0002401 | 97.10 | gold quality |
| cortex of kidney | UBERON:0001225 | 97.09 | gold quality |
| parietal pleura | UBERON:0002400 | 97.09 | gold quality |
| pleura | UBERON:0000977 | 97.07 | gold quality |
| bronchial epithelial cell | CL:0002328 | 97.06 | gold quality |
| skin of hip | UBERON:0001554 | 97.03 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.00 | gold quality |
| kidney | UBERON:0002113 | 96.94 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 96.87 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.85 | 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)
59 targeting ANAPC13, 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-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-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-6758-3P | 99.57 | 67.55 | 1078 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-5571-5P | 99.49 | 66.99 | 1764 |
| HSA-MIR-4325 | 99.49 | 72.20 | 1342 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 65.5% of screened cell lines.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | anapc13 | ENSDARG00000078435 |
| mus_musculus | Anapc13 | ENSMUSG00000035048 |
| rattus_norvegicus | Anapc13 | ENSRNOG00000008459 |
Protein
Protein identifiers
Anaphase-promoting complex subunit 13 — Q9BS18 (reviewed: Q9BS18)
Alternative names: Cyclosome subunit 13
All UniProt accessions (2): Q9BS18, A8K3Z6
UniProt curated annotations — full annotation on UniProt →
Function. Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of ‘Lys-11’-linked polyubiquitin chains and, to a lower extent, the formation of ‘Lys-48’- and ‘Lys-63’-linked polyubiquitin chains. The APC/C complex catalyzes assembly of branched ‘Lys-11’-/‘Lys-48’-linked branched ubiquitin chains on target proteins.
Subunit / interactions. The mammalian APC/C is composed at least of 14 distinct subunits ANAPC1, ANAPC2, CDC27/APC3, ANAPC4, ANAPC5, CDC16/APC6, ANAPC7, CDC23/APC8, ANAPC10, ANAPC11, CDC26/APC12, ANAPC13, ANAPC15 and ANAPC16 that assemble into a complex of at least 19 chains with a combined molecular mass of around 1.2 MDa; APC/C interacts with FZR1 and FBXO5.
Subcellular location. Nucleus.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the APC13 family.
RefSeq proteins (3): NP_001229303, NP_001229304, NP_056206* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008401 | Apc13 | Family |
Pfam: PF05839
UniProt features (9 total): helix 4, sequence conflict 2, chain 1, region of interest 1, strand 1
Structure
Experimental structures (PDB)
20 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9GAW | ELECTRON MICROSCOPY | 2.9 |
| 6Q6G | ELECTRON MICROSCOPY | 3.2 |
| 6Q6H | ELECTRON MICROSCOPY | 3.2 |
| 8PKP | ELECTRON MICROSCOPY | 3.2 |
| 5G05 | ELECTRON MICROSCOPY | 3.4 |
| 8TAU | ELECTRON MICROSCOPY | 3.5 |
| 4UI9 | ELECTRON MICROSCOPY | 3.6 |
| 6TNT | ELECTRON MICROSCOPY | 3.78 |
| 6TLJ | ELECTRON MICROSCOPY | 3.8 |
| 5G04 | ELECTRON MICROSCOPY | 3.9 |
| 6TM5 | ELECTRON MICROSCOPY | 3.9 |
| 9N9R | ELECTRON MICROSCOPY | 3.9 |
| 9N9S | ELECTRON MICROSCOPY | 3.9 |
| 8TAR | ELECTRON MICROSCOPY | 4 |
| 5LCW | ELECTRON MICROSCOPY | 4.2 |
| 5A31 | ELECTRON MICROSCOPY | 4.3 |
| 5KHU | ELECTRON MICROSCOPY | 4.8 |
| 5KHR | ELECTRON MICROSCOPY | 6.1 |
| 5L9T | ELECTRON MICROSCOPY | 6.4 |
| 5L9U | ELECTRON MICROSCOPY | 6.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BS18-F1 | 74.06 | 0.13 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 169 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_ANAPHASE_PROMOTING_COMPLEX_DEPENDENT_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_PROTEIN_K11_LINKED_UBIQUITINATION, GOBP_REGULATION_OF_CELL_CYCLE, MORF_PPP6C, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_MITOTIC_CELL_CYCLE
GO Biological Process (8): regulation of mitotic cell cycle (GO:0007346), anaphase-promoting complex-dependent catabolic process (GO:0031145), cell division (GO:0051301), regulation of meiotic cell cycle (GO:0051445), protein K48-linked ubiquitination (GO:0070936), protein K11-linked ubiquitination (GO:0070979), protein branched polyubiquitination (GO:0141198), protein ubiquitination (GO:0016567)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): anaphase-promoting complex (GO:0005680), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein polyubiquitination | 3 |
| regulation of cell cycle | 2 |
| mitotic cell cycle | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| cellular process | 1 |
| meiotic cell cycle | 1 |
| regulation of reproductive process | 1 |
| protein modification by small protein conjugation | 1 |
| binding | 1 |
| nuclear ubiquitin ligase complex | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
964 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANAPC13 | CDC26 | Q8NHZ8 | 965 |
| ANAPC13 | ANAPC10 | Q9UM13 | 963 |
| ANAPC13 | ANAPC16 | Q96DE5 | 944 |
| ANAPC13 | CDC23 | Q9UJX2 | 925 |
| ANAPC13 | ANAPC11 | Q9NYG5 | 877 |
| ANAPC13 | ANAPC15 | P60006 | 867 |
| ANAPC13 | ANAPC5 | Q9UJX4 | 855 |
| ANAPC13 | CDC16 | Q13042 | 843 |
| ANAPC13 | CDC27 | P30260 | 794 |
| ANAPC13 | CDC20 | Q12834 | 671 |
| ANAPC13 | OR2B3 | O76000 | 507 |
| ANAPC13 | SLC35F4 | A4IF30 | 474 |
| ANAPC13 | CDK2 | P24941 | 468 |
| ANAPC13 | ANAPC4 | Q9UJX5 | 457 |
| ANAPC13 | FZR1 | Q9UM11 | 452 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDC20 | BUB1B | psi-mi:“MI:0914”(association) | 0.980 |
| ANAPC2 | CDC27 | psi-mi:“MI:0915”(physical association) | 0.910 |
| ANAPC13 | CDC23 | psi-mi:“MI:0915”(physical association) | 0.880 |
| ANAPC4 | CDC27 | psi-mi:“MI:0914”(association) | 0.860 |
| ANAPC5 | CDC27 | psi-mi:“MI:0914”(association) | 0.810 |
| CDC16 | BUB1B | psi-mi:“MI:0914”(association) | 0.790 |
| CDC23 | BUB1B | psi-mi:“MI:0914”(association) | 0.790 |
| ANAPC16 | BUB1B | psi-mi:“MI:0914”(association) | 0.730 |
| ANAPC2 | BUB1B | psi-mi:“MI:0914”(association) | 0.730 |
| ANAPC13 | CDC27 | psi-mi:“MI:0914”(association) | 0.640 |
| CDC26 | BUB1B | psi-mi:“MI:0914”(association) | 0.640 |
| C16orf87 | CDC27 | psi-mi:“MI:0914”(association) | 0.640 |
| Cdc20 | BUB1 | psi-mi:“MI:0914”(association) | 0.560 |
| Cdc20 | BUB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Cdc23 | BUB1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| Cdc16 | BUB1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| Cdc26 | BUB1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANAPC13 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (133): ANAPC13 (Two-hybrid), ANAPC13 (Affinity Capture-RNA), ANAPC13 (Affinity Capture-RNA), ANAPC13 (Co-purification), ANAPC13 (Affinity Capture-Western), ANAPC13 (Co-fractionation), TAF4 (Co-fractionation), ANAPC13 (Affinity Capture-MS), ANAPC13 (Affinity Capture-MS), ANAPC13 (Affinity Capture-MS), ANAPC13 (Affinity Capture-MS), ANAPC13 (Affinity Capture-MS), ANAPC13 (Affinity Capture-MS), ANAPC13 (Affinity Capture-MS), ANAPC13 (Affinity Capture-MS)
ESM2 similar proteins: A0A023IWK5, A2BT05, A2BYF5, A2C4H7, A5PJU8, A8W7N1, K4JY29, O64242, P02677, P03715, P04564, P06885, P07543, P09692, P0C2K6, P0DJH2, P0DTH7, P11967, P31182, P33713, P43511, P52820, P68116, P68117, P68249, P80504, P80529, P83767, P85087, P85112, P85211, P85509, P85512, P85800, P86043, P86929, Q2NKV2, Q32PD7, Q3U898, Q46J74
Diamond homologs: Q28IW8, Q2NKV2, Q5RBV4, Q8R034, Q9BS18
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ANAPC13 | “form complex” | APC-c | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 |
|---|---|---|---|
| Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components | 13 | 434.1× | 2e-33 |
| Inactivation of APC/C via direct inhibition of the APC/C complex | 13 | 355.2× | 7e-32 |
| Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase | 11 | 300.5× | 3e-26 |
| APC-Cdc20 mediated degradation of Nek2A | 13 | 289.4× | 1e-30 |
| APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint | 13 | 289.4× | 1e-30 |
| Phosphorylation of the APC/C | 10 | 286.2× | 2e-23 |
| Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins | 13 | 279.1× | 2e-30 |
| Aberrant regulation of mitotic exit in cancer due to RB1 defects | 10 | 273.2× | 3e-23 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of meiotic cell cycle | 11 | 421.3× | 2e-26 |
| protein branched polyubiquitination | 10 | 421.3× | 2e-24 |
| anaphase-promoting complex-dependent catabolic process | 11 | 386.2× | 3e-26 |
| protein K11-linked ubiquitination | 10 | 195.9× | 1e-20 |
| mitotic spindle assembly checkpoint signaling | 5 | 140.4× | 2e-09 |
| regulation of mitotic cell cycle | 11 | 132.4× | 1e-20 |
| protein K48-linked ubiquitination | 10 | 84.3× | 9e-17 |
| cell division | 15 | 34.6× | 2e-20 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1708468 | GRCh37/hg19 3q22.2(chr3:133998370-134678040)x1 | Pathogenic |
| 4279117 | GRCh37/hg19 3q22.2(chr3:134113279-134337513)x1 | Pathogenic |
SpliceAI
630 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:134478712:CATT:C | acceptor_gain | 1.0000 |
| 3:134478714:TT:T | acceptor_gain | 1.0000 |
| 3:134482822:T:TA | donor_gain | 1.0000 |
| 3:134485100:T:TA | donor_gain | 1.0000 |
| 3:134478711:TCATT:T | acceptor_gain | 0.9900 |
| 3:134478712:CATTC:C | acceptor_gain | 0.9900 |
| 3:134478714:TTCTG:T | acceptor_loss | 0.9900 |
| 3:134478715:TCTGA:T | acceptor_loss | 0.9900 |
| 3:134478716:C:CC | acceptor_gain | 0.9900 |
| 3:134478717:T:A | acceptor_loss | 0.9900 |
| 3:134482801:CCT:C | donor_loss | 0.9900 |
| 3:134482802:CTA:C | donor_loss | 0.9900 |
| 3:134482804:A:AC | donor_gain | 0.9900 |
| 3:134482804:ACC:A | donor_loss | 0.9900 |
| 3:134482805:C:CC | donor_gain | 0.9900 |
| 3:134482927:CAAAT:C | acceptor_gain | 0.9900 |
| 3:134482928:AAATC:A | acceptor_loss | 0.9900 |
| 3:134482930:ATC:A | acceptor_loss | 0.9900 |
| 3:134482932:C:CC | acceptor_gain | 0.9900 |
| 3:134482933:T:G | acceptor_loss | 0.9900 |
| 3:134478713:ATT:A | acceptor_gain | 0.9700 |
| 3:134482928:AAAT:A | acceptor_gain | 0.9600 |
| 3:134482934:G:C | acceptor_loss | 0.9600 |
| 3:134485072:C:CA | donor_gain | 0.9600 |
| 3:134485659:T:A | donor_gain | 0.9600 |
| 3:134485731:T:TA | donor_gain | 0.9600 |
| 3:134478724:G:C | acceptor_gain | 0.9500 |
| 3:134478718:G:C | acceptor_loss | 0.9400 |
| 3:134482805:CCA:C | donor_gain | 0.9400 |
| 3:134482929:AAT:A | acceptor_gain | 0.9400 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000813621 (3:134483449 AG>A), RS1000849571 (3:134478736 T>A), RS1001369834 (3:134485301 A>G), RS1002333677 (3:134482892 C>A), RS1002660373 (3:134485998 C>A,T), RS1002707571 (3:134485844 C>A), RS1003526390 (3:134486225 G>A,C,T), RS1003606310 (3:134481395 C>T), RS1003765302 (3:134486391 CG>C), RS1003861050 (3:134482512 A>G), RS1003939031 (3:134481722 T>G), RS1004237989 (3:134486681 T>A,G), RS1004369669 (3:134480987 T>G), RS1004381127 (3:134480624 T>C), RS1004696123 (3:134486473 A>G)
Disease associations
OMIM: gene MIM:614484 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000174_11 | Height | 7.000000e-08 |
| GCST004063_33 | Waist circumference adjusted for body mass index | 8.000000e-07 |
| GCST004063_38 | Waist circumference adjusted for body mass index | 2.000000e-11 |
| GCST004063_42 | Waist circumference adjusted for body mass index | 1.000000e-06 |
| GCST004407_3 | Neurocognitive impairment in HIV-1 infection (dichotomous) | 2.000000e-06 |
| GCST004500_102 | Waist circumference adjusted for BMI (adjusted for smoking behaviour) | 1.000000e-12 |
| GCST004500_13 | Waist circumference adjusted for BMI (adjusted for smoking behaviour) | 2.000000e-08 |
| GCST004500_51 | Waist circumference adjusted for BMI (adjusted for smoking behaviour) | 6.000000e-07 |
| GCST004501_26 | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) | 8.000000e-07 |
| GCST004501_7 | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) | 7.000000e-13 |
| GCST004501_8 | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) | 4.000000e-07 |
| GCST004504_4 | Waist circumference adjusted for BMI in non-smokers | 9.000000e-07 |
| GCST004504_5 | Waist circumference adjusted for BMI in non-smokers | 2.000000e-12 |
| GCST004504_6 | Waist circumference adjusted for BMI in non-smokers | 2.000000e-07 |
| GCST004562_177 | Waist circumference adjusted for body mass index | 9.000000e-09 |
| GCST004562_75 | Waist circumference adjusted for body mass index | 4.000000e-06 |
| GCST004562_91 | Waist circumference adjusted for body mass index | 1.000000e-09 |
| GCST004563_227 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 2.000000e-08 |
| GCST004563_68 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 2.000000e-09 |
| GCST004563_82 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 5.000000e-06 |
| GCST004564_123 | Waist circumference adjusted for BMI in active individuals | 4.000000e-09 |
| GCST004564_124 | Waist circumference adjusted for BMI in active individuals | 2.000000e-06 |
| GCST004564_125 | Waist circumference adjusted for BMI in active individuals | 4.000000e-10 |
| GCST008839_555 | Height | 9.000000e-19 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007998 | cognitive impairment measurement |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 1-aminomethylphosphonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| enniatins | affects cotreatment, decreases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Chelating Agents | affects binding, decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Monocrotaline | increases expression, increases metabolic processing | 1 |
| Okadaic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.