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
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