ARPC1A
gene geneOn this page
Also known as SOP2HsSOP2LArc40
Summary
ARPC1A (actin related protein 2/3 complex subunit 1A, HGNC:703) is a protein-coding gene on chromosome 7q22.1, encoding Actin-related protein 2/3 complex subunit 1A (Q92747). Probably functions as a component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 10552 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 64 total — 1 pathogenic
- MANE Select transcript:
NM_006409
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:703 |
| Approved symbol | ARPC1A |
| Name | actin related protein 2/3 complex subunit 1A |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SOP2Hs, SOP2L, Arc40 |
| Ensembl gene | ENSG00000241685 |
| Ensembl biotype | protein_coding |
| OMIM | 604220 |
| Entrez | 10552 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 13 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000262942, ENST00000432786, ENST00000463009, ENST00000471960, ENST00000477240, ENST00000899458, ENST00000899459, ENST00000899460, ENST00000899461, ENST00000899462, ENST00000899463, ENST00000937327, ENST00000937328, ENST00000960463, ENST00000960464, ENST00000960465, ENST00000960466
RefSeq mRNA: 2 — MANE Select: NM_006409
NM_001190996, NM_006409
CCDS: CCDS5660
Canonical transcript exons
ENST00000262942 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001055468 | 99325898 | 99326004 |
| ENSE00001947928 | 99365891 | 99366262 |
| ENSE00003481841 | 99344293 | 99344515 |
| ENSE00003546812 | 99358340 | 99358415 |
| ENSE00003551555 | 99338181 | 99338285 |
| ENSE00003627403 | 99353909 | 99354121 |
| ENSE00003628680 | 99363543 | 99363633 |
| ENSE00003632159 | 99359545 | 99359738 |
| ENSE00003668403 | 99348852 | 99348959 |
| ENSE00003809602 | 99333325 | 99333417 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 98.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 104.9429 / max 1051.6567, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79857 | 97.8827 | 1822 |
| 79858 | 3.2608 | 1534 |
| 79856 | 3.0711 | 1480 |
| 79859 | 0.7283 | 522 |
Top tissues by expression
165 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 98.74 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.34 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.07 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 98.05 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.01 | gold quality |
| hypothalamus | UBERON:0001898 | 98.00 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.92 | gold quality |
| amygdala | UBERON:0001876 | 97.61 | gold quality |
| substantia nigra | UBERON:0002038 | 97.56 | gold quality |
| body of stomach | UBERON:0001161 | 97.54 | gold quality |
| putamen | UBERON:0001874 | 97.54 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.52 | gold quality |
| temporal lobe | UBERON:0001871 | 97.40 | gold quality |
| apex of heart | UBERON:0002098 | 97.37 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.37 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.36 | gold quality |
| esophagus | UBERON:0001043 | 97.36 | gold quality |
| left coronary artery | UBERON:0001626 | 97.36 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.34 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.32 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.30 | gold quality |
| duodenum | UBERON:0002114 | 97.29 | gold quality |
| fundus of stomach | UBERON:0001160 | 97.27 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.24 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.20 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 97.20 | gold quality |
| right coronary artery | UBERON:0001625 | 97.18 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.16 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.14 | gold quality |
| telencephalon | UBERON:0001893 | 97.09 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | no | 2.15 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting ARPC1A, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-190A-5P | 99.54 | 71.45 | 933 |
| HSA-MIR-190B-5P | 99.54 | 71.40 | 925 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-5587-5P | 99.07 | 68.58 | 838 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-606 | 98.72 | 67.34 | 960 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-4277 | 98.34 | 67.17 | 1323 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-1287-5P | 96.80 | 65.30 | 743 |
Literature-anchored findings (GeneRIF, showing 3)
- data implicate ARPC1A as a novel target for the 7q21-q22 amplification and a regulator of cell migration and invasion in pancreatic cancer (PMID:19145645)
- Development and validation of hub genes for lymph node metastasis in patients with prostate cancer. (PMID:32130760)
- ARPC1A is regulated by STAT3 to inhibit ferroptosis and promote prostate cancer progression. (PMID:35871131)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arpc1a | ENSDARG00000008383 |
| mus_musculus | Arpc1a | ENSMUSG00000029621 |
| rattus_norvegicus | Arpc1a | ENSRNOG00000000996 |
| drosophila_melanogaster | Arpc1 | FBGN0001961 |
| caenorhabditis_elegans | WBGENE00000201 |
Paralogs (1): ARPC1B (ENSG00000130429)
Protein
Protein identifiers
Actin-related protein 2/3 complex subunit 1A — Q92747 (reviewed: Q92747)
Alternative names: SOP2-like protein
All UniProt accessions (3): Q92747, E9PF58, V9HVZ6
UniProt curated annotations — full annotation on UniProt →
Function. Probably functions as a component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.
Subunit / interactions. Probable component of the Arp2/3 complex in which it may replace ARPC1B. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA.
Subcellular location. Cytoplasm. Cytoskeleton. Nucleus.
Similarity. Belongs to the WD repeat ARPC1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q92747-1 | 1 | yes |
| Q92747-2 | 2 |
RefSeq proteins (2): NP_001177925, NP_006400* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR017383 | ARPC1 | Family |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF00400
UniProt features (12 total): repeat 6, sequence conflict 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6YW7 | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92747-F1 | 92.23 | 0.84 |
Function
Pathways and Gene Ontology
Reactome pathways
24 pathways
| ID | Pathway |
|---|---|
| R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| R-HSA-3928662 | EPHB-mediated forward signaling |
| R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| R-HSA-8856828 | Clathrin-mediated endocytosis |
| R-HSA-9664422 | FCGR3A-mediated phagocytosis |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-162582 | Signal Transduction |
| R-HSA-1643685 | Disease |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| R-HSA-2682334 | EPH-Ephrin signaling |
| R-HSA-422475 | Axon guidance |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9658195 | Leishmania infection |
| R-HSA-9664407 | Parasite infection |
| R-HSA-9664417 | Leishmania phagocytosis |
| R-HSA-9675108 | Nervous system development |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
| R-HSA-9824443 | Parasitic Infection Pathways |
MSigDB gene sets: 203 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, ZHAN_LATE_DIFFERENTIATION_GENES_UP, REACTOME_INNATE_IMMUNE_SYSTEM, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, TAL1ALPHAE47_01, REACTOME_MEMBRANE_TRAFFICKING, MODULE_120, GOBP_ACTIN_FILAMENT_ORGANIZATION, NKX22_01, GOMF_ACTIN_BINDING, GOBP_ARP2_3_COMPLEX_MEDIATED_ACTIN_NUCLEATION, MODULE_18, GOBP_ACTIN_NUCLEATION, KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS, TAL1BETAE47_01
GO Biological Process (2): actin cytoskeleton organization (GO:0030036), Arp2/3 complex-mediated actin nucleation (GO:0034314)
GO Molecular Function (3): actin binding (GO:0003779), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (11): nucleus (GO:0005634), cytosol (GO:0005829), Arp2/3 protein complex (GO:0005885), actin cytoskeleton (GO:0015629), site of double-strand break (GO:0035861), muscle cell projection membrane (GO:0036195), extracellular exosome (GO:0070062), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-15 pathways:
| Category | Pathways |
|---|---|
| Fcgamma receptor (FCGR) dependent phagocytosis | 1 |
| EPH-Ephrin signaling | 1 |
| RHO GTPase Effectors | 1 |
| Membrane Trafficking | 1 |
| Leishmania phagocytosis | 1 |
| Immune System | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Vesicle-mediated transport | 1 |
| Innate Immune System | 1 |
| Axon guidance | 1 |
| Nervous system development | 1 |
| Disease | 1 |
| Parasitic Infection Pathways | 1 |
| Leishmania infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| actin nucleation | 1 |
| cytoskeletal protein binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| actin cytoskeleton | 1 |
| protein-containing complex | 1 |
| cytoskeleton | 1 |
| site of DNA damage | 1 |
| cell projection membrane | 1 |
| muscle cell projection | 1 |
| extracellular vesicle | 1 |
| synapse | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1923 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARPC1A | ARPC3 | O15145 | 955 |
| ARPC1A | ACTR2 | P61160 | 950 |
| ARPC1A | ARPC2 | O15144 | 935 |
| ARPC1A | ACTR3 | P32391 | 924 |
| ARPC1A | ARPC5 | O15511 | 894 |
| ARPC1A | ARPC5L | Q9BPX5 | 865 |
| ARPC1A | ARPC1B | O15143 | 817 |
| ARPC1A | PFN2 | P35080 | 785 |
| ARPC1A | EXOC7 | Q9UPT5 | 733 |
| ARPC1A | WASL | O00401 | 697 |
| ARPC1A | SMURF1 | Q9HCE7 | 582 |
| ARPC1A | MAPK1 | P28482 | 546 |
| ARPC1A | NOP14 | P78316 | 494 |
| ARPC1A | ZKSCAN5 | Q9Y2L8 | 492 |
| ARPC1A | WAS | P42768 | 481 |
IntAct
126 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARPC4 | ARPC1B | psi-mi:“MI:0914”(association) | 0.910 |
| ARPC1A | ARPC2 | psi-mi:“MI:0914”(association) | 0.900 |
| ARPC1A | ARPC2 | psi-mi:“MI:0915”(physical association) | 0.900 |
| ARPC5 | ARPC1B | psi-mi:“MI:0914”(association) | 0.890 |
| ACTR3 | ARPC1B | psi-mi:“MI:0914”(association) | 0.890 |
| ASH2L | KMT2D | psi-mi:“MI:0914”(association) | 0.890 |
| ARPC3 | ARPC1B | psi-mi:“MI:0914”(association) | 0.880 |
| ARPC5L | ARPC1B | psi-mi:“MI:0914”(association) | 0.830 |
| ARPC5 | ARPC3 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| DBNL | HERC2 | psi-mi:“MI:0914”(association) | 0.670 |
| ARPC3 | ARPC2 | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZB | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| NCKIPSD | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (192): ARPC1A (Affinity Capture-MS), ARPC1A (Affinity Capture-MS), ARPC2 (Affinity Capture-MS), NCAPG (Affinity Capture-MS), NCAPD2 (Affinity Capture-MS), ARPC5 (Affinity Capture-MS), NCAPH (Affinity Capture-MS), ACTR2 (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ACTR3 (Affinity Capture-MS), ACTR2 (Co-fractionation), ACTR3 (Co-fractionation), ARPC1A (Co-fractionation), ARPC1A (Co-fractionation), ARPC1A (Co-fractionation)
ESM2 similar proteins: A0A1L8EXB5, A4QNE6, A8WGF4, C1BK83, O35142, O43684, O55029, P35605, P35606, Q17QU5, Q1JP79, Q1JQB2, Q29RH4, Q29RZ9, Q3UGF1, Q4FZW5, Q4R4I8, Q561Y0, Q5I0B4, Q5M7F6, Q5MNZ6, Q5R664, Q5RB58, Q5U4Y8, Q5VQ78, Q6GNF1, Q6NWV3, Q6PA72, Q6TGU2, Q803V5, Q8AVT9, Q8BGF3, Q8IWZ6, Q8K2G4, Q8L828, Q8NEZ3, Q8VE80, Q92747, Q96J01, Q96MX6
Diamond homologs: A0A1L8EXB5, O15143, O80856, O88656, O96622, P38328, P78774, Q1JP79, Q58CQ2, Q6GNU1, Q7ZXD5, Q8AVT9, Q92747, Q99PD4, Q9R0Q6, Q9SJW6, Q9WV32
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ARPC1A | “form complex” | ARP2/3 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 99 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RHO GTPases Activate WASPs and WAVEs | 11 | 44.7× | 3e-13 |
| Parasite infection | 10 | 44.4× | 1e-12 |
| Leishmania phagocytosis | 10 | 44.4× | 1e-12 |
| Fcgamma receptor (FCGR) dependent phagocytosis | 10 | 35.7× | 1e-11 |
| EPHB-mediated forward signaling | 9 | 30.6× | 5e-10 |
| FCGR3A-mediated phagocytosis | 12 | 28.8× | 1e-12 |
| Regulation of actin dynamics for phagocytic cup formation | 12 | 28.3× | 1e-12 |
| Leishmania infection | 11 | 23.0× | 9e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Arp2/3 complex-mediated actin nucleation | 8 | 90.6× | 9e-12 |
| epidermal growth factor receptor signaling pathway | 6 | 16.0× | 6e-04 |
| neuron projection morphogenesis | 5 | 14.8× | 2e-03 |
| cellular response to type II interferon | 6 | 13.4× | 7e-04 |
| Ras protein signal transduction | 5 | 11.1× | 5e-03 |
| actin cytoskeleton organization | 9 | 7.7× | 6e-04 |
| regulation of apoptotic process | 8 | 7.2× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 147547 | GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 | Pathogenic |
SpliceAI
1740 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:99326001:CCAG:C | donor_loss | 1.0000 |
| 7:99326003:AGGT:A | donor_loss | 1.0000 |
| 7:99326005:GTA:G | donor_loss | 1.0000 |
| 7:99326006:T:G | donor_loss | 1.0000 |
| 7:99333319:TTGCA:T | acceptor_loss | 1.0000 |
| 7:99333320:TGCA:T | acceptor_loss | 1.0000 |
| 7:99333321:GCA:G | acceptor_loss | 1.0000 |
| 7:99333322:CAGC:C | acceptor_loss | 1.0000 |
| 7:99333323:A:AG | acceptor_gain | 1.0000 |
| 7:99333324:G:GA | acceptor_gain | 1.0000 |
| 7:99333324:GCT:G | acceptor_gain | 1.0000 |
| 7:99333324:GCTTT:G | acceptor_gain | 1.0000 |
| 7:99333413:TACTC:T | donor_gain | 1.0000 |
| 7:99333414:ACTCG:A | donor_loss | 1.0000 |
| 7:99333415:CTC:C | donor_gain | 1.0000 |
| 7:99333415:CTCG:C | donor_loss | 1.0000 |
| 7:99333416:TC:T | donor_gain | 1.0000 |
| 7:99333416:TCGT:T | donor_loss | 1.0000 |
| 7:99333417:CGTAA:C | donor_loss | 1.0000 |
| 7:99333418:G:GG | donor_gain | 1.0000 |
| 7:99333418:GTAAG:G | donor_loss | 1.0000 |
| 7:99333419:T:G | donor_loss | 1.0000 |
| 7:99333420:AAGTA:A | donor_loss | 1.0000 |
| 7:99338179:A:AG | acceptor_gain | 1.0000 |
| 7:99338179:AG:A | acceptor_loss | 1.0000 |
| 7:99338180:G:GG | acceptor_gain | 1.0000 |
| 7:99338180:GA:G | acceptor_gain | 1.0000 |
| 7:99338180:GAGA:G | acceptor_gain | 1.0000 |
| 7:99338180:GAGAT:G | acceptor_gain | 1.0000 |
| 7:99338282:ACAG:A | donor_loss | 1.0000 |
AlphaMissense
2473 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:99333396:G:C | A15P | 1.000 |
| 7:99333399:T:A | W16R | 1.000 |
| 7:99333399:T:C | W16R | 1.000 |
| 7:99338187:C:A | A24D | 1.000 |
| 7:99338192:A:C | S26R | 1.000 |
| 7:99338194:T:A | S26R | 1.000 |
| 7:99338194:T:G | S26R | 1.000 |
| 7:99338240:T:A | W42R | 1.000 |
| 7:99338240:T:C | W42R | 1.000 |
| 7:99338259:T:C | L48P | 1.000 |
| 7:99338267:C:G | H51D | 1.000 |
| 7:99338269:C:A | H51Q | 1.000 |
| 7:99338269:C:G | H51Q | 1.000 |
| 7:99344301:T:A | W60R | 1.000 |
| 7:99344301:T:C | W60R | 1.000 |
| 7:99344302:G:C | W60S | 1.000 |
| 7:99344303:G:C | W60C | 1.000 |
| 7:99344303:G:T | W60C | 1.000 |
| 7:99344320:G:C | R66P | 1.000 |
| 7:99344323:T:A | I67N | 1.000 |
| 7:99344323:T:G | I67S | 1.000 |
| 7:99344325:G:T | V68F | 1.000 |
| 7:99344326:T:A | V68D | 1.000 |
| 7:99344329:C:T | T69I | 1.000 |
| 7:99344331:T:C | C70R | 1.000 |
| 7:99344332:G:A | C70Y | 1.000 |
| 7:99344333:T:G | C70W | 1.000 |
| 7:99344334:G:A | G71R | 1.000 |
| 7:99344334:G:C | G71R | 1.000 |
| 7:99344334:G:T | G71W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000013567 (7:99325481 C>T), RS1000043131 (7:99325722 G>A), RS1000097630 (7:99353762 A>T), RS1000184445 (7:99356981 C>T), RS1000360963 (7:99328375 T>C), RS1000451551 (7:99351323 C>T), RS1000469700 (7:99353255 T>A), RS1000605719 (7:99358293 G>T), RS1000636969 (7:99358634 G>A), RS1000751831 (7:99350983 A>G), RS1000768449 (7:99364978 G>A,T), RS1000890407 (7:99365342 T>C), RS1001044345 (7:99326661 A>G), RS1001106138 (7:99326737 A>G), RS1001140282 (7:99358182 G>A)
Disease associations
OMIM: gene MIM:604220 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001038_8 | Dehydroepiandrosterone sulphate levels | 2.000000e-16 |
| GCST002882_3 | Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor | 6.000000e-12 |
| GCST004730_2 | Facial emotion recognition (sad faces) | 3.000000e-06 |
| GCST006249_21 | Serum metabolite levels | 4.000000e-11 |
| GCST006249_45 | Serum metabolite levels | 6.000000e-32 |
| GCST007929_102 | Medication use (calcium channel blockers) | 5.000000e-08 |
| GCST008757_50 | Alcohol consumption | 3.000000e-10 |
| GCST90002385_143 | High light scatter reticulocyte count | 2.000000e-26 |
| GCST90002386_454 | High light scatter reticulocyte percentage of red cells | 8.000000e-20 |
| GCST90002405_484 | Reticulocyte count | 9.000000e-28 |
| GCST90002406_251 | Reticulocyte fraction of red cells | 4.000000e-20 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
| EFO:0007007 | ticagrelor measurement |
| EFO:0008329 | facial emotion recognition measurement |
| EFO:0009930 | Calcium channel blocker use measurement |
| EFO:0007986 | reticulocyte count |
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 |
|---|---|---|
| bisphenol A | decreases expression, increases expression, affects cotreatment, increases methylation | 3 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Lead | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | increases secretion, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Benzene | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Selenium | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| tert-Butylhydroperoxide | 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.