Gene Gene information from NCBI Gene database.
Entrez ID 60
Gene name Actin beta
Gene symbol ACTB
Synonyms (NCBI Gene)
BKRNSBNSBRWS1CSMHDDS1PS1TP5BP1THC8
Chromosome 7
Chromosome location 7p22.1
Summary This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and
SNPs SNP information provided by dbSNP.
55
SNP ID Visualize variation Clinical significance Consequence
rs104894003 G>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs281875331 T>C,G Pathogenic, not-provided Missense variant, coding sequence variant
rs281875332 G>A,C Pathogenic, not-provided Missense variant, coding sequence variant
rs281875333 G>A,T Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs281875334 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1147
miRTarBase ID miRNA Experiments Reference
MIRT007163 hsa-miR-644a Luciferase reporter assayqRT-PCRWestern blot 23091630
MIRT007163 hsa-miR-644a Luciferase reporter assayqRT-PCRWestern blot 23091630
MIRT024098 hsa-miR-1-3p Proteomics 18668040
MIRT052403 hsa-let-7a-5p CLASH 23622248
MIRT052403 hsa-let-7a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
120
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000776 Component Kinetochore NAS 11078522
GO:0000785 Component Chromatin HDA 16217013
GO:0000785 Component Chromatin NAS 12192000, 29374058
GO:0000786 Component Nucleosome IDA 27153538
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102630 132 ENSG00000075624
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60709
Protein name Actin, cytoplasmic 1 (EC 3.6.4.-) (Beta-actin) [Cleaved into: Actin, cytoplasmic 1, N-terminally processed]
Protein function Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:25255767, PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both
PDB 3BYH , 3D2U , 3J82 , 3LUE , 6ANU , 6ICT , 6ICV , 6LTJ , 6MBJ , 6MBK , 6MBL , 6NBW , 6OX0 , 6OX1 , 6OX2 , 6OX3 , 6OX4 , 6OX5 , 6V62 , 6V63 , 6WK1 , 6WK2 , 7AS4 , 7P1H , 7QJ6 , 7QJ9 , 7VDV , 7W28 , 7W29 , 7Y8R , 7ZTC , 7ZTD , 8COG , 8DNH , 8IB8 , 8OI8 , 8OID , 8QR1 , 8RTT , 8RTY , 8RU2 , 8RX1 , 8UAU , 8VRD , 8VRJ , 8VRK , 8X15 , 8X19 , 8X1C , 8XVG , 8XVT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00022 Actin 2 375 Actin Family
Sequence
Sequence length 375
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling
Rap1 signaling pathway
Phagosome
Apoptosis
Hippo signaling pathway
Focal adhesion
Adherens junction
Tight junction
Platelet activation
Neutrophil extracellular trap formation
Leukocyte transendothelial migration
Thermogenesis
Regulation of actin cytoskeleton
Motor proteins
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Gastric acid secretion
Amyotrophic lateral sclerosis
Bacterial invasion of epithelial cells
Vibrio cholerae infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Influenza A
Proteoglycans in cancer
Hepatocellular carcinoma
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
Fluid shear stress and atherosclerosis
  Gap junction degradation
Formation of annular gap junctions
Regulation of actin dynamics for phagocytic cup formation
EPHB-mediated forward signaling
EPH-ephrin mediated repulsion of cells
Adherens junctions interactions
Recycling pathway of L1
VEGFA-VEGFR2 Pathway
Interaction between L1 and Ankyrins
Cell-extracellular matrix interactions
B-WICH complex positively regulates rRNA expression
RHO GTPases activate IQGAPs
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate Formins
MAP2K and MAPK activation
UCH proteinases
DNA Damage Recognition in GG-NER
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Clathrin-mediated endocytosis
Signaling downstream of RAS mutants
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
605
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal brain morphology Likely pathogenic rs755437923 RCV000790625
ACTB Haploinsufficiency syndrome Likely pathogenic rs1554329182 RCV005054200
ACTB-associated syndromic thrombocytopenia Likely pathogenic; Pathogenic rs2533847765, rs2533846013, rs2533845983, rs2533845770 RCV003324586
RCV003324594
RCV003324595
RCV003324596
ACTB-related BAFopathy Likely pathogenic; Pathogenic rs281875334, rs1373863123, rs2128241451, rs587779777, rs104894003, rs1064793444 RCV001533047
RCV001533045
RCV001533018
RCV001533048
RCV001533046
RCV001533049
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs770089307 RCV005919306
Familial prostate cancer Likely benign rs375195937 RCV005898057
Hepatocellular carcinoma Uncertain significance rs754862802 RCV005925671
Lung cancer - rs879226771 RCV005922450
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 29093507
Adenocarcinoma of Lung Associate 37552140
Adenoma Associate 22223087
Adnexal Diseases Associate 35387638
Allanson Pantzar McLeod syndrome Associate 34970864
Alzheimer Disease Associate 24628925
Arthritis Rheumatoid Associate 36398072, 37894839
Astrocytoma Associate 30259794
Atrial Fibrillation Associate 36398072
Attention Deficit Disorder with Hyperactivity Associate 31898838