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
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: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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Baraitser-Winter Syndrome Baraitser-Winter syndrome 1 rs1554329078, rs587779771, rs886041309, rs1554329068, rs587779773, rs1057518073, rs104894003, rs1554329523, rs587779774, rs1064793444, rs281875334, rs786205585, rs587779775, rs1131691341, rs281875333
View all (21 more)
N/A
Developmental Malformations-Deafness-Dystonia Syndrome developmental malformations-deafness-dystonia syndrome rs104894003 N/A
Mental retardation intellectual disability rs886041309, rs1562720119, rs281875332 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
thrombocytopenia Thrombocytopenia N/A N/A ClinVar
Associations from Text Mining Disease 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