ACTR6
gene geneOn this page
Also known as ARP6FLJ13433
Summary
ACTR6 (actin related protein 6, HGNC:24025) is a protein-coding gene on chromosome 12q23.1, encoding Actin-related protein 6 (Q9GZN1). Required for formation and/or maintenance of proper nucleolar structure and function. It is a selective cancer dependency (DepMap: 77.6% of cell lines).
Predicted to enable nucleosome binding activity. Involved in nucleolus organization. Located in nucleolus.
Source: NCBI Gene 64431 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 52 total — 1 pathogenic, 2 likely-pathogenic
- Cancer dependency (DepMap): dependent in 77.6% of screened cell lines
- MANE Select transcript:
NM_022496
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24025 |
| Approved symbol | ACTR6 |
| Name | actin related protein 6 |
| Location | 12q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARP6, FLJ13433 |
| Ensembl gene | ENSG00000075089 |
| Ensembl biotype | protein_coding |
| OMIM | 619729 |
| Entrez | 64431 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 14 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000188312, ENST00000546902, ENST00000547458, ENST00000548180, ENST00000549977, ENST00000550813, ENST00000551440, ENST00000551517, ENST00000551617, ENST00000551652, ENST00000552064, ENST00000552376, ENST00000553038, ENST00000899395, ENST00000899396, ENST00000899397, ENST00000899398, ENST00000899399, ENST00000899400, ENST00000926808, ENST00000926809, ENST00000926810
RefSeq mRNA: 1 — MANE Select: NM_022496
NM_022496
CCDS: CCDS9074
Canonical transcript exons
ENST00000188312 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001155372 | 100200815 | 100200919 |
| ENSE00002419156 | 100223786 | 100224424 |
| ENSE00003561595 | 100210295 | 100210351 |
| ENSE00003569491 | 100212256 | 100212354 |
| ENSE00003581214 | 100205676 | 100205744 |
| ENSE00003591446 | 100218415 | 100218586 |
| ENSE00003596784 | 100210073 | 100210208 |
| ENSE00003603810 | 100220008 | 100220146 |
| ENSE00003624458 | 100204940 | 100205057 |
| ENSE00003689929 | 100212450 | 100212528 |
| ENSE00003691303 | 100207663 | 100207786 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 93.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8537 / max 315.7795, expressed in 1750 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127560 | 13.8170 | 1750 |
| 127561 | 0.0368 | 19 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 93.71 | gold quality |
| cortical plate | UBERON:0005343 | 93.58 | gold quality |
| ventricular zone | UBERON:0003053 | 93.03 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.87 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.39 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.30 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 91.94 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.67 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.63 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.16 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.04 | gold quality |
| monocyte | CL:0000576 | 90.78 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.69 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.69 | gold quality |
| mononuclear cell | CL:0000842 | 90.65 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 90.41 | gold quality |
| leukocyte | CL:0000738 | 90.38 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.37 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.34 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.12 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.05 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.96 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.89 | gold quality |
| hypothalamus | UBERON:0001898 | 89.71 | gold quality |
| neocortex | UBERON:0001950 | 89.56 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 89.55 | gold quality |
| embryo | UBERON:0000922 | 89.52 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.52 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.48 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.43 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.98 |
| E-MTAB-6142 | no | 180.41 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EHMT2, GATA3, MTA3
miRNA regulators (miRDB)
46 targeting ACTR6, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| 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-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 77.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Results describe the predominant nuclear localization of another Arp subfamily, Arp6, in vertebrate cells, and show its colocalization with heterochromatin protein 1 orthologs in pericentric heterochromatin. (PMID:16487625)
- under starvation, ARP6 was required for cell survival through the repression of rDNA transcription independently of H2A.Z (PMID:26164235)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | actr6 | ENSDARG00000021370 |
| mus_musculus | Actr6 | ENSMUSG00000019948 |
| rattus_norvegicus | Actr6 | ENSRNOG00000007875 |
| drosophila_melanogaster | Arp6 | FBGN0011741 |
| caenorhabditis_elegans | WBGENE00007434 |
Paralogs (26): ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)
Protein
Protein identifiers
Actin-related protein 6 — Q9GZN1 (reviewed: Q9GZN1)
Alternative names: hARPX
All UniProt accessions (8): Q9GZN1, F8VP72, F8VRL1, F8VSD1, F8W043, F8W057, F8W0Q1, G3V1Y1
UniProt curated annotations — full annotation on UniProt →
Function. Required for formation and/or maintenance of proper nucleolar structure and function. Plays a dual role in the regulation of ribosomal DNA (rDNA) transcription. In the presence of high glucose, maintains active rDNA transcription through H2A.Z deposition and under glucose starvation, is required for the repression of rDNA transcription, and this function may be independent of H2A.Z.
Subunit / interactions. Component of the chromatin-remodeling SRCAP complex composed of at least SRCAP, DMAP1, RUVBL1, RUVBL2, ACTL6A, YEATS4, ACTR6 and ZNHIT1. Interacts with CBX1, CBX3 and CBX5.
Subcellular location. Cytoplasm. Cytoskeleton. Nucleus. Nucleolus.
Similarity. Belongs to the actin family. ARP6 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9GZN1-1 | 1 | yes |
| Q9GZN1-2 | 2 |
RefSeq proteins (1): NP_071941* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004000 | Actin | Family |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00022
UniProt features (9 total): sequence conflict 3, modified residue 2, splice variant 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8X15 | ELECTRON MICROSCOPY | 3.2 |
| 8X19 | ELECTRON MICROSCOPY | 3.2 |
| 8X1C | ELECTRON MICROSCOPY | 3.2 |
| 9CA7 | ELECTRON MICROSCOPY | 3.35 |
| 9CA9 | ELECTRON MICROSCOPY | 3.56 |
| 9CA8 | ELECTRON MICROSCOPY | 3.92 |
| 9CAB | ELECTRON MICROSCOPY | 3.94 |
| 6IGM | ELECTRON MICROSCOPY | 4 |
| 9CAA | ELECTRON MICROSCOPY | 4.04 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9GZN1-F1 | 94.37 | 0.87 |
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): 2, 260
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 139 (showing top):
MODULE_255, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, MODULE_317, PATIL_LIVER_CANCER, MODULE_331, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_NUCLEUS_ORGANIZATION, ZHANG_BREAST_CANCER_PROGENITORS_UP, ACEVEDO_LIVER_CANCER_UP, GOBP_CHROMATIN_REMODELING, MODULE_207, OSMAN_BLADDER_CANCER_DN, GOCC_INO80_TYPE_COMPLEX, GOMF_CHROMATIN_BINDING, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_DN
GO Biological Process (5): chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), nucleolus organization (GO:0007000), negative regulation of transcription by RNA polymerase I (GO:0016479), positive regulation of transcription by RNA polymerase I (GO:0045943)
GO Molecular Function (2): nucleosome binding (GO:0031491), protein binding (GO:0005515)
GO Cellular Component (6): nucleosome (GO:0000786), Swr1 complex (GO:0000812), nucleus (GO:0005634), nucleolus (GO:0005730), cytoskeleton (GO:0005856), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase I | 2 |
| transcription by RNA polymerase I | 2 |
| intracellular membraneless organelle | 2 |
| chromatin organization | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleus organization | 1 |
| negative regulation of DNA-templated transcription | 1 |
| positive regulation of DNA-templated transcription | 1 |
| chromatin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| chromatin | 1 |
| protein-DNA complex | 1 |
| histone deacetylase complex | 1 |
| nuclear chromosome | 1 |
| INO80-type complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1660 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTR6 | H2AZ1 | P0C0S5 | 620 |
| ACTR6 | DMAP1 | Q9NPF5 | 524 |
| ACTR6 | KLHL38 | Q2WGJ6 | 494 |
| ACTR6 | NEURL1B | A8MQ27 | 486 |
| ACTR6 | ZNHIT1 | O43257 | 463 |
| ACTR6 | CAPZA3 | Q96KX2 | 461 |
| ACTR6 | DEPDC4 | Q8N2C3 | 458 |
| ACTR6 | HIPK4 | Q8NE63 | 455 |
| ACTR6 | HIP1R | O75146 | 426 |
| ACTR6 | TRIP12 | Q14669 | 414 |
| ACTR6 | MYO10 | Q9HD67 | 409 |
| ACTR6 | TADA2A | O75478 | 405 |
| ACTR6 | ANAPC5 | Q9UJX4 | 398 |
| ACTR6 | HCLS1 | P14317 | 391 |
| ACTR6 | RUVBL2 | Q9Y230 | 389 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBXN2B | VCP | psi-mi:“MI:0914”(association) | 0.910 |
| RUVBL1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.860 |
| ACTR6 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.820 |
| ACTR6 | ZNHIT1 | psi-mi:“MI:0915”(physical association) | 0.820 |
| RUVBL2 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.810 |
| YEATS4 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.790 |
| ZNHIT1 | YEATS4 | psi-mi:“MI:0914”(association) | 0.790 |
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| ZNHIT1 | H2AZ1 | psi-mi:“MI:0914”(association) | 0.770 |
| ACTL6A | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.720 |
| VPS72 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.690 |
| ACTR6 | H2AZ1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| QPRT | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL1 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (89): ACTR6 (Affinity Capture-MS), ACTR6 (Affinity Capture-MS), ACTR6 (Affinity Capture-MS), DMAP1 (Affinity Capture-MS), SRCAP (Affinity Capture-MS), ZNHIT1 (Affinity Capture-MS), ACTR6 (Affinity Capture-MS), ACTR6 (Affinity Capture-MS), ACTR6 (Co-fractionation), CHMP5 (Co-fractionation), PUS7 (Co-fractionation), RUVBL1 (Co-fractionation), RUVBL2 (Co-fractionation), YWHAE (Co-fractionation), ACTR6 (Proximity Label-MS)
ESM2 similar proteins: A2X6S3, A2XLF2, A2XNS1, A2YR10, O16808, O81221, P0DM41, P0DM42, P10990, P30162, P30163, P30168, P32390, P42528, P45886, P47117, P53460, P53461, P53463, P53464, P53490, P69004, P69005, P78712, P81228, P81229, P92179, P93374, P93375, P93376, P93584, P93586, P93587, Q10AZ4, Q10DV7, Q26065, Q61WW9, Q6K908, Q6NVA9, Q6ZJW9
Diamond homologs: A2BDB0, A2WNB0, O18840, O74258, O94241, P02578, P04751, P07829, P0CM04, P0CM05, P10984, P10986, P10990, P10995, P12716, P14235, P17128, P17304, P20399, P27131, P29751, P30162, P30163, P45890, P48975, P49055, P53455, P53458, P53459, P53472, P53479, P53486, P53505, P60009, P60010, P60011, P60706, P60708, P60709, P60710
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 71 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 |
|---|---|---|---|
| HATs acetylate histones | 11 | 17.4× | 1e-08 |
| FXIIa activates plasma kallikrein-kinin system | 5 | 17.3× | 8e-04 |
| Deposition of new CENPA-containing nucleosomes at the centromere | 5 | 15.9× | 1e-03 |
| UCH proteinases | 6 | 14.9× | 4e-04 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | 5 | 14.6× | 1e-03 |
| RUNX1 regulates transcription of genes involved in differentiation of HSCs | 7 | 13.3× | 2e-04 |
| Amyloid fiber formation | 6 | 12.3× | 8e-04 |
| Formation of the beta-catenin:TCF transactivating complex | 5 | 12.0× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of double-strand break repair | 6 | 52.8× | 3e-07 |
| positive regulation of double-strand break repair via homologous recombination | 6 | 34.8× | 2e-06 |
| regulation of embryonic development | 6 | 30.0× | 4e-06 |
| positive regulation of DNA repair | 5 | 27.2× | 5e-05 |
| regulation of DNA repair | 5 | 20.9× | 1e-04 |
| chromatin remodeling | 11 | 12.2× | 3e-07 |
| regulation of apoptotic process | 9 | 11.4× | 6e-06 |
| regulation of cell cycle | 10 | 11.3× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 36 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 59817 | GRCh38/hg38 12q23.1(chr12:100078579-100273980)x3 | Pathogenic |
| 148826 | GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3 | Likely pathogenic |
| 563984 | GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3 | Likely pathogenic |
SpliceAI
1585 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:100204931:T:TA | acceptor_gain | 1.0000 |
| 12:100204937:TA:T | acceptor_loss | 1.0000 |
| 12:100204938:A:AG | acceptor_gain | 1.0000 |
| 12:100204938:AG:A | acceptor_gain | 1.0000 |
| 12:100204938:AGG:A | acceptor_gain | 1.0000 |
| 12:100204938:AGGGT:A | acceptor_loss | 1.0000 |
| 12:100204939:G:GT | acceptor_gain | 1.0000 |
| 12:100204939:GG:G | acceptor_gain | 1.0000 |
| 12:100204939:GGG:G | acceptor_gain | 1.0000 |
| 12:100204939:GGGT:G | acceptor_gain | 1.0000 |
| 12:100204939:GGGTT:G | acceptor_gain | 1.0000 |
| 12:100205053:AAAAG:A | donor_loss | 1.0000 |
| 12:100205055:AAGGT:A | donor_loss | 1.0000 |
| 12:100205056:AGG:A | donor_loss | 1.0000 |
| 12:100205058:GTA:G | donor_loss | 1.0000 |
| 12:100205059:T:A | donor_loss | 1.0000 |
| 12:100207658:TATA:T | acceptor_loss | 1.0000 |
| 12:100207661:A:AC | acceptor_loss | 1.0000 |
| 12:100207661:AGGTT:A | acceptor_gain | 1.0000 |
| 12:100207662:G:A | acceptor_loss | 1.0000 |
| 12:100207662:GGTT:G | acceptor_gain | 1.0000 |
| 12:100207662:GGTTG:G | acceptor_gain | 1.0000 |
| 12:100207719:A:AG | acceptor_gain | 1.0000 |
| 12:100207784:ATGGT:A | donor_loss | 1.0000 |
| 12:100207785:TGGT:T | donor_loss | 1.0000 |
| 12:100207786:GGTGA:G | donor_loss | 1.0000 |
| 12:100207787:G:GG | donor_gain | 1.0000 |
| 12:100207787:GTG:G | donor_loss | 1.0000 |
| 12:100207788:TGA:T | donor_loss | 1.0000 |
| 12:100207789:GAG:G | donor_loss | 1.0000 |
AlphaMissense
2645 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:100205676:G:C | G63R | 1.000 |
| 12:100205712:T:A | W75R | 1.000 |
| 12:100205712:T:C | W75R | 1.000 |
| 12:100210306:G:A | G176E | 1.000 |
| 12:100210330:T:C | L184P | 1.000 |
| 12:100210344:T:C | S189P | 1.000 |
| 12:100210351:G:C | R191T | 1.000 |
| 12:100210351:G:T | R191M | 1.000 |
| 12:100212301:A:C | K206N | 1.000 |
| 12:100212301:A:T | K206N | 1.000 |
| 12:100212491:T:C | L238S | 1.000 |
| 12:100212494:C:A | P239H | 1.000 |
| 12:100220080:G:C | R332P | 1.000 |
| 12:100200877:G:A | G9E | 0.999 |
| 12:100204963:G:C | R31P | 0.999 |
| 12:100205047:C:A | P59H | 0.999 |
| 12:100205047:C:G | P59R | 0.999 |
| 12:100205677:G:A | G63D | 0.999 |
| 12:100205691:T:A | W68R | 0.999 |
| 12:100205691:T:C | W68R | 0.999 |
| 12:100207710:C:A | N101K | 0.999 |
| 12:100207710:C:G | N101K | 0.999 |
| 12:100207751:A:T | E115V | 0.999 |
| 12:100210136:T:A | V148D | 0.999 |
| 12:100210157:C:A | T155K | 0.999 |
| 12:100210305:G:A | G176R | 0.999 |
| 12:100210305:G:C | G176R | 0.999 |
| 12:100210306:G:T | G176V | 0.999 |
| 12:100210321:C:T | T181I | 0.999 |
| 12:100210325:T:A | N182K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000093090 (12:100215528 T>C), RS1000113729 (12:100200047 C>T), RS1000148765 (12:100213485 A>G), RS1000193578 (12:100205465 A>G), RS1000377215 (12:100212689 A>G), RS1000464910 (12:100199557 A>G,T), RS1000546841 (12:100220021 T>A), RS1000639079 (12:100219713 C>A,T), RS1000754106 (12:100211891 G>A), RS1001290926 (12:100212368 C>T), RS1001517107 (12:100198908 G>A,T), RS1001645776 (12:100218028 C>T), RS1001879493 (12:100210516 C>T), RS1001900277 (12:100198881 CTCAGGTGGGAGGA>C,CTCAGGTGGGAGGATCAGGTGGGAGGA), RS1001934597 (12:100202994 A>G)
Disease associations
OMIM: gene MIM:619729 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 4 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 2 |
| Valproic Acid | increases expression | 2 |
| Cadmium Chloride | increases expression, increases abundance | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Quercetin | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Aflatoxin M1 | 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.