ACTR3B
gene geneOn this page
Also known as ARP11ARP3beta
Summary
ACTR3B (actin related protein 3B, HGNC:17256) is a protein-coding gene on chromosome 7q36.1-q36.2, encoding Actin-related protein 3B (Q9P1U1). Plays a role in the organization of the actin cytoskeleton.
This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms.
Source: NCBI Gene 57180 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 58 total — 7 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_020445
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17256 |
| Approved symbol | ACTR3B |
| Name | actin related protein 3B |
| Location | 7q36.1-q36.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARP11, ARP3beta |
| Ensembl gene | ENSG00000133627 |
| Ensembl biotype | protein_coding |
| Entrez | 57180 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000256001, ENST00000377776, ENST00000397282, ENST00000479402, ENST00000488782, ENST00000885354, ENST00000885355, ENST00000885356, ENST00000885357, ENST00000919241, ENST00000919242, ENST00000919243, ENST00000965408
RefSeq mRNA: 9 — MANE Select: NM_020445
NM_001040135, NM_001350940, NM_001350941, NM_001350942, NM_001350943, NM_001350944, NM_001350945, NM_001350946, NM_020445
CCDS: CCDS34782, CCDS5934, CCDS87568
Canonical transcript exons
ENST00000256001 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000827618 | 152854458 | 152855378 |
| ENSE00003432239 | 152816481 | 152816588 |
| ENSE00003462962 | 152825030 | 152825122 |
| ENSE00003470665 | 152852126 | 152852251 |
| ENSE00003477818 | 152814550 | 152814645 |
| ENSE00003501039 | 152801621 | 152801731 |
| ENSE00003537700 | 152783187 | 152783242 |
| ENSE00003543124 | 152853494 | 152853577 |
| ENSE00003602821 | 152800531 | 152800655 |
| ENSE00003605728 | 152823342 | 152823515 |
| ENSE00003632132 | 152820299 | 152820442 |
| ENSE00003850575 | 152759752 | 152759926 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 96.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.6918 / max 187.1984, expressed in 1777 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82145 | 14.5887 | 1766 |
| 82144 | 0.7596 | 447 |
| 82146 | 0.2671 | 122 |
| 82147 | 0.0764 | 33 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 96.23 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.87 | gold quality |
| secondary oocyte | CL:0000655 | 93.17 | gold quality |
| ventricular zone | UBERON:0003053 | 92.66 | gold quality |
| parotid gland | UBERON:0001831 | 92.59 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.50 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.90 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.87 | gold quality |
| putamen | UBERON:0001874 | 91.30 | gold quality |
| neocortex | UBERON:0001950 | 91.03 | gold quality |
| frontal cortex | UBERON:0001870 | 90.99 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.96 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.90 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.74 | gold quality |
| telencephalon | UBERON:0001893 | 90.62 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.60 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.55 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.04 | gold quality |
| forebrain | UBERON:0001890 | 89.55 | gold quality |
| Ammon’s horn | UBERON:0001954 | 89.52 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.42 | gold quality |
| amygdala | UBERON:0001876 | 88.93 | gold quality |
| occipital lobe | UBERON:0002021 | 88.77 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.70 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.58 | gold quality |
| brain | UBERON:0000955 | 88.50 | gold quality |
| temporal lobe | UBERON:0001871 | 88.07 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.99 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 86.97 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 86.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75140 | yes | 215.53 |
| E-ANND-3 | yes | 5.25 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting ACTR3B, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-5571-5P | 99.49 | 66.99 | 1764 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
Literature-anchored findings (GeneRIF, showing 1)
- Thus, overexpression of Arp11 may suppress tumorigenicity in nude mice. (PMID:14651955)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | actr3b | ENSDARG00000008790 |
| mus_musculus | Actr3b | ENSMUSG00000056367 |
| rattus_norvegicus | Actr3b | ENSRNOG00000031855 |
Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), 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 3B — Q9P1U1 (reviewed: Q9P1U1)
Alternative names: ARP3-beta, Actin-like protein 3B, Actin-related protein ARP4
All UniProt accessions (1): Q9P1U1
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding 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. May decrease the metastatic potential of tumors.
Subunit / interactions. Interacts with the Arp2/3 complex composed of ARP2, ARP3, ARPC1B, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20-ARC and ARPC5/p16-ARC.
Subcellular location. Cytoplasm. Cytoskeleton. Cell projection.
Tissue specificity. Detected in fetal brain. Detected throughout the adult brain, in neurons from gray matter, but not in white matter. Detected in liver, skeletal muscle and pancreas. Detected in lung adenocarcinoma cells with low metastatic potential, but not in lung adenocarcinoma cells with high metastatic potential.
Similarity. Belongs to the actin family. ARP3 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P1U1-1 | 1 | yes |
| Q9P1U1-2 | 2 | |
| Q9P1U1-3 | 3 |
RefSeq proteins (9): NP_001035225, NP_001337869, NP_001337870, NP_001337871, NP_001337872, NP_001337873, NP_001337874, NP_001337875, NP_065178* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004000 | Actin | Family |
| IPR020902 | Actin/actin-like_CS | Conserved_site |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00022
UniProt features (4 total): splice variant 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P1U1-F1 | 93.40 | 0.90 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
MCLACHLAN_DENTAL_CARIES_DN, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_ACTIN_BINDING, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOBP_ARP2_3_COMPLEX_MEDIATED_ACTIN_NUCLEATION, GOBP_ACTIN_NUCLEATION, MODULE_207, GOCC_LAMELLIPODIUM, GOCC_ARP2_3_PROTEIN_COMPLEX, GAVIN_FOXP3_TARGETS_CLUSTER_P3, BLALOCK_ALZHEIMERS_DISEASE_DN, GOCC_CELL_LEADING_EDGE, GOMF_CYTOSKELETAL_PROTEIN_BINDING, GOMF_ADENYL_NUCLEOTIDE_BINDING, WONG_ADULT_TISSUE_STEM_MODULE
GO Biological Process (0):
GO Molecular Function (4): actin binding (GO:0003779), ATP binding (GO:0005524), nucleotide binding (GO:0000166), actin filament binding (GO:0051015)
GO Cellular Component (5): cytoskeleton (GO:0005856), lamellipodium (GO:0030027), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoskeletal protein binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| intracellular membraneless organelle | 1 |
| cell leading edge | 1 |
| plasma membrane bounded cell projection | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2189 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTR3B | ACTR2 | P61160 | 976 |
| ACTR3B | DCTN2 | Q13561 | 907 |
| ACTR3B | TPPP | O94811 | 844 |
| ACTR3B | DCTN5 | Q9BTE1 | 838 |
| ACTR3B | CAPZA2 | P47755 | 810 |
| ACTR3B | CAPZA1 | P52907 | 798 |
| ACTR3B | DCTN1 | Q14203 | 794 |
| ACTR3B | DCTN6 | O00399 | 791 |
| ACTR3B | DCTN4 | Q9UJW0 | 767 |
| ACTR3B | ARPC5 | O15511 | 737 |
| ACTR3B | ARPC5L | Q9BPX5 | 732 |
| ACTR3B | ARPC2 | O15144 | 727 |
| ACTR3B | ARPC3 | O15145 | 691 |
| ACTR3B | ACTB | P02570 | 675 |
| ACTR3B | WAS | P42768 | 589 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARPC1B | ARPC2 | psi-mi:“MI:0914”(association) | 0.920 |
| ARPC4 | ARPC1B | psi-mi:“MI:0914”(association) | 0.910 |
| ARPC1A | ARPC2 | psi-mi:“MI:0914”(association) | 0.900 |
| ARPC5 | ARPC1B | psi-mi:“MI:0914”(association) | 0.890 |
| SEPTIN9 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.800 |
| ARPC5 | ARPC3 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ENO1 | ENO2 | psi-mi:“MI:0914”(association) | 0.710 |
| ACTR3B | ARPC2 | psi-mi:“MI:0914”(association) | 0.670 |
| ARPC3 | ARPC2 | psi-mi:“MI:0914”(association) | 0.640 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| ACTR3B | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ACTR2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ARPC2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ARPC3 | psi-mi:“MI:0914”(association) | 0.350 | |
| CALD1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| ACTR3B | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
| PAAT | HIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM133A | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| NCKIPSD | GAS7 | psi-mi:“MI:0914”(association) | 0.350 |
| NDP | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBD1 | FLOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| MSC | TCF3 | psi-mi:“MI:0914”(association) | 0.350 |
| TFAP4 | PRKCA | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A41 | TMOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| ACADL | RAP1B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (128): ACTR3B (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ACTR3B (Co-fractionation), ACTR3B (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ACTR2 (Affinity Capture-MS), ACTR3B (Affinity Capture-MS), ARPC2 (Affinity Capture-MS), CHURC1 (Affinity Capture-MS), OSBPL3 (Affinity Capture-MS), ACTR3 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8EV45, C9WPN6, F1QGW6, F6RQL9, O73723, O77676, P00516, P0C605, P20461, P23258, P23330, P31321, P32392, P35250, P41091, P53033, P61157, P61158, P62482, P62483, P81795, P83887, P83888, Q05B83, Q0VCD2, Q13126, Q13303, Q13976, Q27955, Q2KHU8, Q2KJ81, Q2VIR3, Q32KM1, Q4V7C7, Q5R797, Q5R8R1, Q5ZHS1, Q5ZMS3, Q641P0, Q641W4
Diamond homologs: A0A1L8EV45, A2BDB0, A2X6S3, O16808, O17320, O18840, O73723, P02576, P02578, P04752, P04829, P07829, P0DM41, P0DM42, P10984, P10986, P10988, P10990, P12716, P13363, P17126, P17128, P22132, P26183, P27131, P30162, P30163, P32390, P32392, P35432, P41112, P41339, P42528, P43239, P45886, P47117, P53458, P53461, P53468, P53470
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 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 | 9 | 77.2× | 4e-13 |
| Parasite infection | 8 | 74.8× | 9e-12 |
| Leishmania phagocytosis | 8 | 74.8× | 9e-12 |
| Fcgamma receptor (FCGR) dependent phagocytosis | 8 | 60.2× | 3e-11 |
| EPHB-mediated forward signaling | 8 | 57.4× | 4e-11 |
| FCGR3A-mediated phagocytosis | 9 | 45.5× | 2e-11 |
| Regulation of actin dynamics for phagocytic cup formation | 9 | 44.8× | 2e-11 |
| Leishmania infection | 8 | 35.3× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Arp2/3 complex-mediated actin nucleation | 8 | 165.2× | 2e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 1 |
| Uncertain significance | 34 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 147806 | GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1 | Pathogenic |
| 150933 | GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3 | Pathogenic |
| 1808403 | GRCh37/hg19 7q36.1-36.2(chr7:151581341-153599029)x1 | Pathogenic |
| 3236546 | GRCh37/hg19 7q36.1-36.2(chr7:151935482-154215665)x1 | Pathogenic |
| 442820 | GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3 | Pathogenic |
| 443708 | GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1 | Pathogenic |
| 60314 | GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1 | Pathogenic |
| 443611 | GRCh37/hg19 7q36.1-36.2(chr7:151387196-154070094)x1 | Likely pathogenic |
SpliceAI
3797 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:152801618:CA:C | acceptor_loss | 1.0000 |
| 7:152801619:A:AG | acceptor_gain | 1.0000 |
| 7:152801619:AGT:A | acceptor_gain | 1.0000 |
| 7:152801619:AGTG:A | acceptor_gain | 1.0000 |
| 7:152801620:G:GA | acceptor_gain | 1.0000 |
| 7:152801620:GT:G | acceptor_gain | 1.0000 |
| 7:152801620:GTG:G | acceptor_gain | 1.0000 |
| 7:152801620:GTGG:G | acceptor_gain | 1.0000 |
| 7:152801620:GTGGC:G | acceptor_gain | 1.0000 |
| 7:152801727:TAATG:T | donor_gain | 1.0000 |
| 7:152801729:ATG:A | donor_gain | 1.0000 |
| 7:152801730:TG:T | donor_gain | 1.0000 |
| 7:152801731:GG:G | donor_gain | 1.0000 |
| 7:152801732:G:GG | donor_gain | 1.0000 |
| 7:152801732:GT:G | donor_loss | 1.0000 |
| 7:152801733:T:A | donor_loss | 1.0000 |
| 7:152814549:GACA:G | acceptor_gain | 1.0000 |
| 7:152819347:ACTTG:A | acceptor_gain | 1.0000 |
| 7:152819350:T:TA | acceptor_gain | 1.0000 |
| 7:152823513:G:GT | donor_gain | 1.0000 |
| 7:152823514:AGG:A | donor_loss | 1.0000 |
| 7:152823516:G:GA | donor_loss | 1.0000 |
| 7:152823517:T:G | donor_loss | 1.0000 |
| 7:152825011:ATATT:A | acceptor_gain | 1.0000 |
| 7:152825012:T:G | acceptor_gain | 1.0000 |
| 7:152825013:A:AG | acceptor_gain | 1.0000 |
| 7:152825013:ATT:A | acceptor_gain | 1.0000 |
| 7:152825014:T:G | acceptor_gain | 1.0000 |
| 7:152825015:T:A | acceptor_gain | 1.0000 |
| 7:152825019:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
2750 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:152759923:C:T | T14I | 1.000 |
| 7:152783196:G:C | K18N | 1.000 |
| 7:152783196:G:T | K18N | 1.000 |
| 7:152783222:C:A | P27H | 1.000 |
| 7:152800618:G:A | G63E | 1.000 |
| 7:152801637:G:A | G81E | 1.000 |
| 7:152801651:T:A | W86R | 1.000 |
| 7:152801651:T:C | W86R | 1.000 |
| 7:152814582:A:C | R123S | 1.000 |
| 7:152814582:A:T | R123S | 1.000 |
| 7:152816541:G:T | G165W | 1.000 |
| 7:152816542:G:A | G165E | 1.000 |
| 7:152816556:A:C | S170R | 1.000 |
| 7:152816558:C:A | S170R | 1.000 |
| 7:152816558:C:G | S170R | 1.000 |
| 7:152816560:G:A | G171E | 1.000 |
| 7:152816560:G:T | G171V | 1.000 |
| 7:152852142:G:A | G323E | 1.000 |
| 7:152852142:G:T | G323V | 1.000 |
| 7:152853548:T:A | W378R | 1.000 |
| 7:152853548:T:C | W378R | 1.000 |
| 7:152853555:G:A | G380E | 1.000 |
| 7:152853558:G:A | G381D | 1.000 |
| 7:152759913:G:C | D11H | 0.999 |
| 7:152759919:G:C | G13R | 0.999 |
| 7:152759919:G:T | G13C | 0.999 |
| 7:152759920:G:A | G13D | 0.999 |
| 7:152759920:G:T | G13V | 0.999 |
| 7:152759926:G:A | G15E | 0.999 |
| 7:152783194:A:G | K18E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000059767 (7:152797709 G>A), RS1000075994 (7:152789475 G>A), RS1000135654 (7:152810857 T>C), RS1000163740 (7:152834432 G>A), RS1000273946 (7:152781272 A>G,T), RS1000293394 (7:152781493 A>G,T), RS1000326392 (7:152829161 C>T), RS1000381615 (7:152774664 T>C,G), RS1000451963 (7:152822725 G>T), RS1000501394 (7:152775113 G>A), RS1000511896 (7:152842782 C>G,T), RS1000574185 (7:152847926 G>A,C), RS1000580593 (7:152790064 C>A,T), RS1000646620 (7:152768642 A>G), RS1000667606 (7:152817314 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_195 | Obesity-related traits | 9.000000e-06 |
| GCST002548_5 | Ulcerative colitis | 5.000000e-07 |
| GCST003657_2 | Attention deficit hyperactivity disorder symptom score | 2.000000e-06 |
| GCST004251_8 | Paneth cell defects in Crohn’s disease | 4.000000e-06 |
| GCST004640_7 | Western dietary pattern | 2.000000e-06 |
| GCST006446_6 | Ulna and radius bone mineral density | 7.000000e-06 |
| GCST008154_4 | Trunk fat mass | 2.000000e-07 |
| GCST008157_36 | Body fat mass | 1.000000e-07 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004338 | body weight |
| EFO:0007860 | ADHD symptom measurement |
| EFO:0007963 | abnormal paneth cell measurement |
| EFO:0008111 | diet measurement |
| EFO:0007933 | radius bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| cupric oxide | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Amiodarone | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
| Vitamin K 3 | affects 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.