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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 Show/Hide all (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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
ATP-dependent chromatin remodeling Gap junction degradation
Rap1 signaling pathway Formation of annular gap junctions
Phagosome Regulation of actin dynamics for phagocytic cup formation
Apoptosis EPHB-mediated forward signaling
Hippo signaling pathway EPH-ephrin mediated repulsion of cells
Focal adhesion Adherens junctions interactions
Adherens junction Recycling pathway of L1
Tight junction VEGFA-VEGFR2 Pathway
Platelet activation Interaction between L1 and Ankyrins
Neutrophil extracellular trap formation Cell-extracellular matrix interactions
Leukocyte transendothelial migration B-WICH complex positively regulates rRNA expression
Thermogenesis RHO GTPases activate IQGAPs
Regulation of actin cytoskeleton RHO GTPases Activate WASPs and WAVEs
Motor proteins RHO GTPases Activate Formins
Cytoskeleton in muscle cells MAP2K and MAPK activation
Thyroid hormone signaling pathway UCH proteinases
Oxytocin signaling pathway DNA Damage Recognition in GG-NER
Gastric acid secretion Signaling by moderate kinase activity BRAF mutants
Amyotrophic lateral sclerosis Signaling by high-kinase activity BRAF mutants
Bacterial invasion of epithelial cells Signaling by BRAF and RAF fusions
Vibrio cholerae infection Paradoxical activation of RAF signaling by kinase inactive BRAF
Pathogenic Escherichia coli infection Clathrin-mediated endocytosis
Shigellosis Signaling downstream of RAS mutants
Salmonella infection FCGR3A-mediated phagocytosis
Yersinia infection  
Influenza A  
Proteoglycans in cancer  
Hepatocellular carcinoma  
Hypertrophic cardiomyopathy  
Arrhythmogenic right ventricular cardiomyopathy  
Dilated cardiomyopathy  
Viral myocarditis  
Fluid shear stress and atherosclerosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
61
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (22)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic rs755437923 RCV000790625
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTB Haploinsufficiency syndrome Likely pathogenic rs1554329182 RCV005054200
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTB-associated syndromic thrombocytopenia Likely pathogenic; Pathogenic rs2533847765, rs2533846013, rs2533845983, rs2533845770 RCV003324586
RCV003324594
RCV003324595
RCV003324596
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTB-related BAFopathy Likely pathogenic; Pathogenic rs281875334, rs1373863123, rs2128241451, rs587779777, rs104894003, rs1064793444 RCV001533047
RCV001533045
RCV001533018
RCV001533048
RCV001533046
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (39)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARAITSER WINTER CEREBROFRONTOFACIAL SYNDROME — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME — CTD, ClinGen, Orphanet
CTD, ClinGen, Orphanet
16685646, 22366783, 23649928, 23756437, 25052316, 29388391
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations