Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
71
Gene name Gene Name - the full gene name approved by the HGNC.
Actin gamma 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTG1
Synonyms (NCBI Gene) Gene synonyms aliases
ACT, ACTG, DFNA20, DFNA26, HEL-176
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNA20
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are f
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894545 G>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs104894547 A>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs113262912 C>G,T Likely-pathogenic Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs201121917 C>A,G,T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, synonymous variant, coding sequence variant
rs1555666392 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001852 hsa-let-7b-5p Luciferase reporter assay 15131085
MIRT031957 hsa-miR-16-5p Proteomics 18668040
MIRT001852 hsa-let-7b-5p Reporter assay;Other 15131085
MIRT001852 hsa-let-7b-5p CLASH 23622248
MIRT031957 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IMP 25705373
GO:0001738 Process Morphogenesis of a polarized epithelium IMP 22855531
GO:0001895 Process Retina homeostasis HEP 23580065
GO:0005200 Function Structural constituent of cytoskeleton IC 16130169
GO:0005515 Function Protein binding IPI 16189514, 20706999, 21516116, 25241761, 25416956, 25910212, 25959826, 28493397, 29892012, 30561431, 30886144, 31515488, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
102560 144 ENSG00000184009
Protein
UniProt ID P63261
Protein name Actin, cytoplasmic 2 (EC 3.6.4.-) (Gamma-actin) [Cleaved into: Actin, cytoplasmic 2, N-terminally processed]
Protein function Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivit
PDB 5JLH , 6CXI , 6CXJ , 6G2T , 6V62 , 6V63 , 6WK1 , 6WK2 , 7NVM , 8DNF
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
RHO GTPases activate IQGAPs
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate Formins
MAP2K and MAPK activation
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
Anencephaly Cranioschisis rs773607884 22366783
Baraitser-winter syndrome Fryns-Aftimos Syndrome, Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation, BARAITSER-WINTER SYNDROME 2, Baraitser-Winter cerebrofrontofacial syndrome rs104894003, rs281875326, rs281875325, rs11549190, rs281875327, rs281875328, rs281875329, rs281875334, rs281875333, rs281875332, rs281875331, rs397515470, rs587779770, rs587779771, rs587779773
View all (34 more)
22366783, 27240540, 26188271, 25052316, 8941379
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 16316942
Congenital ocular coloboma Congenital ocular coloboma (disorder) rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799 22366783
Unknown
Disease term Disease name Evidence References Source
Coronary syndrome Acute Coronary Syndrome 21751358 ClinVar
Ptosis Blepharoptosis, Ptosis 8941379 ClinVar
Specific learning disorder Specific learning disability ClinVar
Trigonocephaly Trigonocephaly ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Amblyopia Associate 39639254
Amyotrophic lateral sclerosis 1 Associate 23006766
Aortic Dissection Associate 21288906
Arthritis Rheumatoid Associate 33430905, 37426641
Atypical Hemolytic Uremic Syndrome Associate 37373158
Cancer Pain Associate 35349390
Carcinoma Hepatocellular Associate 34856725
Carcinoma Pancreatic Ductal Associate 34856725
Carcinoma Renal Cell Associate 33759378
Carcinosarcoma Associate 33217970