ACTBL2
gene geneOn this page
Also known as DKFZp686D0972
Summary
ACTBL2 (actin beta like 2, HGNC:17780) is a protein-coding gene on chromosome 5q11.2, encoding Beta-actin-like protein 2 (Q562R1). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in axonogenesis and cell motility. Located in extracellular exosome.
Source: NCBI Gene 345651 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 77 total — 3 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_001017992
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17780 |
| Approved symbol | ACTBL2 |
| Name | actin beta like 2 |
| Location | 5q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp686D0972 |
| Ensembl gene | ENSG00000169067 |
| Ensembl biotype | protein_coding |
| OMIM | 614835 |
| Entrez | 345651 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000423391
RefSeq mRNA: 1 — MANE Select: NM_001017992
NM_001017992
CCDS: CCDS34163
Canonical transcript exons
ENST00000423391 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001649584 | 57480018 | 57482811 |
Expression profiles
Bgee: expression breadth broad, 24 present calls, max score 49.52.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3435 / max 18.5201, expressed in 139 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 61764 | 0.2800 | 113 |
| 61763 | 0.0635 | 32 |
Top tissues by expression
120 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 49.52 | gold quality |
| islet of Langerhans | UBERON:0000006 | 45.95 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 43.81 | gold quality |
| placenta | UBERON:0001987 | 41.47 | gold quality |
| gastrocnemius | UBERON:0001388 | 41.45 | silver quality |
| ganglionic eminence | UBERON:0004023 | 40.71 | gold quality |
| muscle of leg | UBERON:0001383 | 40.58 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 40.43 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 38.72 | gold quality |
| muscle tissue | UBERON:0002385 | 38.40 | gold quality |
| vermiform appendix | UBERON:0001154 | 38.00 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| minor salivary gland | UBERON:0001830 | 36.93 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 36.23 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| granulocyte | CL:0000094 | 36.13 | gold quality |
| apex of heart | UBERON:0002098 | 34.92 | gold quality |
| pancreas | UBERON:0001264 | 34.05 | gold quality |
| tonsil | UBERON:0002372 | 33.62 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 32.42 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 32.26 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| liver | UBERON:0002107 | 31.37 | gold quality |
| left uterine tube | UBERON:0001303 | 31.03 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| gall bladder | UBERON:0002110 | 30.90 | gold quality |
| tibial artery | UBERON:0007610 | 30.64 | gold quality |
| popliteal artery | UBERON:0002250 | 30.62 | gold quality |
| skin of abdomen | UBERON:0001416 | 30.48 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.79 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KDM5B
miRNA regulators (miRDB)
73 targeting ACTBL2, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
Literature-anchored findings (GeneRIF, showing 5)
- -actin is downregulated in the corneal stroma of patients with KC, which may be related to reduced levels of a stabilizing factor (HuR) for beta-actin mRNA. (PMID:22562506)
- Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). (PMID:27378695)
- identified a novel protein, ACTBL2, which was demonstrated to be upregulated in colorectal cancer (PMID:27989943)
- The origin of the expressed retrotransposed gene ACTBL2 and its influence on human melanoma cells’ motility and focal adhesion formation. (PMID:33558623)
- Characterization and prognostic impact of ACTBL2-positive tumor-infiltrating leukocytes in epithelial ovarian cancer. (PMID:38114558)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Actbl2 | ENSMUSG00000055194 |
| rattus_norvegicus | Actbl2 | ENSRNOG00000043292 |
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), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)
Protein
Protein identifiers
Beta-actin-like protein 2 — Q562R1 (reviewed: Q562R1)
Alternative names: Kappa-actin
All UniProt accessions (1): Q562R1
UniProt curated annotations — full annotation on UniProt →
Function. Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Subunit / interactions. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Interacts with PFN1 and PFDN1.
Subcellular location. Cytoplasm. Cytoskeleton.
Post-translational modifications. Oxidation of Met-45 and Met-48 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization. Monomethylation at Lys-85 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
Miscellaneous. In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.
Similarity. Belongs to the actin family.
RefSeq proteins (1): NP_001017992* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004000 | Actin | Family |
| IPR004001 | Actin_CS | Conserved_site |
| IPR020902 | Actin/actin-like_CS | Conserved_site |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00022
UniProt features (7 total): sequence conflict 4, modified residue 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q562R1-F1 | 94.97 | 0.92 |
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): 45, 48
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 63 (showing top):
GOBP_NEUROGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, chr5q11, GOCC_SYNAPSE, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_AXON, GOMF_KINASE_BINDING, GOMF_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, CHEN_METABOLIC_SYNDROM_NETWORK
GO Biological Process (3): axonogenesis (GO:0007409), cell motility (GO:0048870), postsynaptic actin cytoskeleton organization (GO:0098974)
GO Molecular Function (5): ATP binding (GO:0005524), protein kinase binding (GO:0019901), structural constituent of postsynaptic actin cytoskeleton (GO:0098973), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (11): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), actin filament (GO:0005884), actin cytoskeleton (GO:0015629), membrane (GO:0016020), axon (GO:0030424), NuA4 histone acetyltransferase complex (GO:0035267), extracellular exosome (GO:0070062), glutamatergic synapse (GO:0098978), cytoskeleton (GO:0005856), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| cellular process | 1 |
| actin cytoskeleton organization | 1 |
| postsynaptic cytoskeleton organization | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| kinase binding | 1 |
| structural constituent of cytoskeleton | 1 |
| postsynaptic actin cytoskeleton | 1 |
| postsynaptic actin cytoskeleton organization | 1 |
| structural constituent of postsynapse | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| actin cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoskeleton | 1 |
| neuron projection | 1 |
| H4/H2A histone acetyltransferase complex | 1 |
| extracellular vesicle | 1 |
| synapse | 1 |
| intracellular membraneless organelle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
2476 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTBL2 | PFDN2 | Q9UHV9 | 888 |
| ACTBL2 | PFDN1 | O60925 | 786 |
| ACTBL2 | PFN1 | P07737 | 580 |
| ACTBL2 | GSN | P06396 | 569 |
| ACTBL2 | SCIN | Q9Y6U3 | 525 |
| ACTBL2 | TUBB6 | Q9BUF5 | 494 |
| ACTBL2 | PRDX2 | P31945 | 491 |
| ACTBL2 | TUBB3 | Q13509 | 461 |
| ACTBL2 | ENO2 | P09104 | 435 |
| ACTBL2 | PRPF40A | O75400 | 431 |
| ACTBL2 | RAB3GAP1 | Q15042 | 418 |
| ACTBL2 | CASKIN1 | Q8WXD9 | 410 |
| ACTBL2 | MIF | P14174 | 403 |
| ACTBL2 | ANP32B | P78458 | 401 |
| ACTBL2 | POTEB2 | H3BUK9 | 395 |
IntAct
333 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP97 | CCP110 | psi-mi:“MI:0914”(association) | 0.950 |
| RAD21 | SMC1A | psi-mi:“MI:0914”(association) | 0.930 |
| WASL | WIPF3 | psi-mi:“MI:0914”(association) | 0.740 |
| HOMER1 | TRAF5 | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| UQCRB | COX7A2L | psi-mi:“MI:0914”(association) | 0.640 |
| RNASE3 | GGPS1 | psi-mi:“MI:0914”(association) | 0.640 |
| CFL1 | CAP2 | psi-mi:“MI:0914”(association) | 0.640 |
| TWF2 | CAP2 | psi-mi:“MI:0914”(association) | 0.640 |
| MAPK7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| CEP97 | ACTBL2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| SRD5A1 | ACTBL2 | psi-mi:“MI:0915”(physical association) | 0.590 |
| ADA | POTEF | psi-mi:“MI:0914”(association) | 0.560 |
| HTR1E | ATP5F1B | psi-mi:“MI:0914”(association) | 0.560 |
| GC | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA10 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| ACTBL2 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| LPGAT1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| GPR141 | STXBP3 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFB127 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| TEX264 | PER1 | psi-mi:“MI:0914”(association) | 0.530 |
| DUSP19 | NARS1 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA6 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| CYP1A1 | SNX3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZMAT5 | DENND4B | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO40 | MYO1D | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF517 | GGPS1 | psi-mi:“MI:0914”(association) | 0.530 |
| CAPNS2 | CAPNS1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (468): ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Proximity Label-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS)
ESM2 similar proteins: A5DQP9, O13419, O17502, O17503, O74258, P04751, P10365, P10989, P11426, P12717, P14235, P17128, P18499, P20359, P26183, P30161, P30164, P30165, P43239, P53455, P53457, P53459, P53465, P53466, P53467, P53474, P53491, P60009, P60010, P60011, P62736, P62737, P62738, P62739, P78711, P84856, Q00214, Q00215, Q25472, Q55EU6
Diamond homologs: A0A1L8EV45, A2X6S3, A2XLF2, O00937, O16808, O17320, O73723, O74258, P02576, P02578, P04752, P04829, P07829, P0DM41, P0DM42, P10984, P10986, P10988, P10990, P12432, P12433, P12715, P13363, P14235, P17126, P17128, P20904, P22132, P26183, P30162, P30163, P32390, P32392, P35432, P41112, P41113, P41339, P41341, P42528, P43239
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 272 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 |
|---|---|---|---|
| VEGFR2 mediated cell proliferation | 5 | 14.9× | 4e-03 |
| Signaling by high-kinase activity BRAF mutants | 6 | 9.9× | 5e-03 |
| MAP2K and MAPK activation | 6 | 8.9× | 7e-03 |
| Signaling by RAF1 mutants | 6 | 8.7× | 7e-03 |
| EPHB-mediated forward signaling | 6 | 8.3× | 8e-03 |
| Signaling by moderate kinase activity BRAF mutants | 6 | 7.9× | 8e-03 |
| Paradoxical activation of RAF signaling by kinase inactive BRAF | 6 | 7.9× | 8e-03 |
| Signaling downstream of RAS mutants | 6 | 7.9× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| actin polymerization or depolymerization | 5 | 15.2× | 6e-03 |
| intrinsic apoptotic signaling pathway | 7 | 10.0× | 4e-03 |
| mitophagy | 7 | 8.8× | 6e-03 |
| autophagosome assembly | 9 | 8.0× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 70 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 144590 | GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 | Pathogenic |
| 148227 | GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 | Pathogenic |
| 57149 | GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 | Pathogenic |
| 3062842 | GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 | Likely pathogenic |
SpliceAI
7 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:57482677:C:CT | donor_gain | 0.6300 |
| 5:57482678:T:TT | donor_gain | 0.6300 |
| 5:57481699:T:TA | donor_gain | 0.5000 |
| 5:57482676:A:AC | donor_gain | 0.3400 |
| 5:57481700:C:A | donor_gain | 0.3200 |
| 5:57481631:A:AC | donor_gain | 0.2400 |
| 5:57481632:C:CC | donor_gain | 0.2400 |
AlphaMissense
2477 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:57481680:C:T | G343E | 0.999 |
| 5:57481681:C:A | G343W | 0.999 |
| 5:57481687:A:G | W341R | 0.999 |
| 5:57481687:A:T | W341R | 0.999 |
| 5:57482256:C:T | G151D | 0.999 |
| 5:57481649:G:C | F353L | 0.998 |
| 5:57481649:G:T | F353L | 0.998 |
| 5:57481651:A:G | F353L | 0.998 |
| 5:57481677:C:T | G344D | 0.998 |
| 5:57481681:C:G | G343R | 0.998 |
| 5:57481681:C:T | G343R | 0.998 |
| 5:57482257:C:G | G151R | 0.998 |
| 5:57482265:C:G | R148P | 0.998 |
| 5:57482358:C:G | R117P | 0.998 |
| 5:57482449:A:G | W87R | 0.998 |
| 5:57482449:A:T | W87R | 0.998 |
| 5:57482470:A:G | W80R | 0.998 |
| 5:57482470:A:T | W80R | 0.998 |
| 5:57482625:G:T | P28H | 0.998 |
| 5:57481596:A:T | V371D | 0.997 |
| 5:57481680:C:A | G343V | 0.997 |
| 5:57481803:C:T | G302E | 0.997 |
| 5:57482647:C:G | G21R | 0.997 |
| 5:57482651:C:A | K19N | 0.997 |
| 5:57482651:C:G | K19N | 0.997 |
| 5:57481678:C:G | G344R | 0.996 |
| 5:57481685:C:A | W341C | 0.996 |
| 5:57481685:C:G | W341C | 0.996 |
| 5:57482214:G:T | P165H | 0.996 |
| 5:57482256:C:A | G151V | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000719305 (5:57482422 G>A), RS1001005341 (5:57480908 A>G), RS1001096712 (5:57481215 G>A,T), RS1001391486 (5:57483074 G>A,C), RS1003617568 (5:57484690 T>C), RS1004133901 (5:57484429 G>A), RS1004224265 (5:57484659 G>A), RS1004340407 (5:57484415 C>G,T), RS1004561015 (5:57483347 G>A), RS1004672013 (5:57483036 G>A), RS1005506727 (5:57483607 G>A,T), RS1005738281 (5:57479998 A>G), RS1006456409 (5:57479919 A>T), RS1006919706 (5:57480172 A>C,G), RS1007386253 (5:57481347 A>G,T)
Disease associations
OMIM: gene MIM:614835 | 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 |
|---|---|---|
| GCST002209_3 | Orthostatic hypotension | 2.000000e-06 |
| GCST003542_205 | Night sleep phenotypes | 3.000000e-06 |
| GCST003542_53 | Night sleep phenotypes | 5.000000e-06 |
| GCST004800_1 | Forced expiratory volume in 1 second (environmental tobacco smoke interaction) | 4.000000e-06 |
| GCST006530_2 | Esophageal adenocarcinoma x smoking interaction | 7.000000e-07 |
| GCST006630_66 | Diastolic blood pressure | 9.000000e-13 |
| GCST007094_185 | Diastolic blood pressure | 3.000000e-08 |
| GCST008362_220 | Birth weight | 9.000000e-16 |
| GCST008363_41 | Offspring birth weight | 2.000000e-06 |
| GCST011205_12 | Hypertrophic cardiomyopathy (MTAG) | 4.000000e-09 |
| GCST011211_7 | Hypertrophic cardiomyopathy | 2.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004314 | forced expiratory volume |
| EFO:0008361 | environmental tobacco smoke exposure measurement |
| EFO:0006527 | smoking status measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, affects expression, increases abundance, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | increases expression, decreases methylation | 2 |
| Estradiol | increases expression, affects expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, increases expression, affects localization, decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Benztropine | increases expression | 1 |
| Caffeine | increases expression | 1 |
| Clozapine | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Dopamine | decreases expression | 1 |
| Furaldehyde | affects cotreatment, increases expression, affects localization, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Oils, Volatile | affects expression, increases abundance, affects cotreatment | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): esophageal adenocarcinoma, orthostatic hypotension