Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60
Gene name Gene Name - the full gene name approved by the HGNC.
Actin beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTB
Synonyms (NCBI Gene) Gene synonyms aliases
BKRNS, BNS, BRWS1, CSMH, DDS1, PS1TP5BP1, THC8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BNS, BRWS1, CSMH, DDS1, THC8
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT007163 hsa-miR-644a Luciferase reporter assay, qRT-PCR, Western blot 23091630
MIRT007163 hsa-miR-644a Luciferase reporter assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000079 Process Regulation of cyclin-dependent protein serine/threonine kinase activity ISS
GO:0000785 Component Chromatin HDA 16217013
GO:0001738 Process Morphogenesis of a polarized epithelium IMP 22855531
GO:0001895 Process Retina homeostasis HEP 23580065
GO:0005200 Function Structural constituent of cytoskeleton TAS 6202424
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
102630 132 ENSG00000075624
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anencephaly Cranioschisis rs773607884 22366783
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 18784066
Baraitser-winter syndrome Fryns-Aftimos Syndrome, Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation, Baraitser-Winter cerebrofrontofacial syndrome rs104894003, rs281875326, rs281875325, rs11549190, rs281875327, rs281875328, rs281875329, rs281875334, rs281875333, rs281875332, rs281875331, rs397515470, rs587779770, rs587779771, rs587779773
View all (34 more)
24896178, 22366783, 16685646, 25052316, 10411937, 2505231, 29788902
Unknown
Disease term Disease name Evidence References Source
Hamartoma Hamartoma ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Specific learning disorder Specific learning disability ClinVar
Trigonocephaly Trigonocephaly ClinVar
Associations from Text Mining
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