Gene Gene information from NCBI Gene database.
Entrez ID 71
Gene name Actin gamma 1
Gene symbol ACTG1
Synonyms (NCBI Gene)
ACTACTGDFNA20DFNA26HEL-176
Chromosome 17
Chromosome location 17q25.3
Summary 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.
5
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.
922
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IMP 25705373
GO:0001738 Process Morphogenesis of a polarized epithelium IMP 22855531
GO:0005200 Function Structural constituent of cytoskeleton IC 16130169
GO:0005200 Function Structural constituent of cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102560 144 ENSG00000184009
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
965
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 20 Likely pathogenic; Pathogenic rs2143775790, rs2143779222, rs1192977984, rs2143775617, rs2143779274, rs2544389679, rs2544392140, rs2544392281, rs2544388195, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630
View all (12 more)
RCV001799523
RCV001799519
RCV001995932
RCV002052085
RCV002248961
RCV002819056
RCV002825106
RCV003153043
RCV003812340
RCV000019980
RCV000019981
RCV000019982
RCV000019983
RCV000019985
RCV000019986
RCV000019987
RCV002513166
RCV001851994
RCV000770804
RCV003766813
RCV000540741
RCV005223042
RCV002295307
RCV000990067
RCV002549941
RCV000995480
RCV001256638
Baraitser-Winter syndrome Likely pathogenic rs281875327 RCV002068712
Baraitser-winter syndrome 2 Likely pathogenic; Pathogenic rs2031775804, rs2143783696, rs2143779081, rs587780275, rs1192977984, rs2544389679, rs2544392140, rs2544392281, rs2544388195, rs104894545, rs267606631, rs11549231, rs1057518673, rs281875326, rs281875325
View all (14 more)
RCV001310277
RCV001375961
RCV001809032
RCV000116227
RCV001995932
RCV002819056
RCV002825106
RCV003778914
RCV003812340
RCV003764612
RCV005222696
RCV004566607
RCV000415380
RCV000022422
RCV000022423
RCV000022424
RCV000022425
RCV000022426
RCV000022427
RCV000501273
RCV001255976
RCV000540741
RCV005223042
RCV002287431
RCV001775138
RCV002549941
RCV000995479
RCV001858814
RCV001330618
Congenital anomaly of kidney and urinary tract Pathogenic rs281875326 RCV001849278
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACTG1-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs368022367, rs376850595, rs374907377, rs370369574, rs141964376, rs373771602, rs2143777781, rs143978597, rs1598548706, rs201036516, rs61997063, rs201748657, rs2544386395, rs11549211, rs566543337
View all (40 more)
RCV004550313
RCV004551900
RCV004551909
RCV004551938
RCV004728781
RCV004738361
RCV004552031
RCV004549576
RCV004738538
RCV004553665
RCV004737240
RCV004551352
RCV004548306
RCV004548335
RCV004548356
RCV004548442
RCV004548445
RCV004549610
RCV004549614
RCV004550672
RCV004550794
RCV004550767
RCV004550683
RCV004551030
RCV004548942
RCV004548764
RCV004548772
RCV004548775
RCV004552816
RCV004554401
RCV004554397
RCV004551438
RCV004551483
RCV004551462
RCV004551453
RCV004551437
RCV004551436
RCV004551624
RCV004551642
RCV004553348
RCV004553349
RCV004553359
RCV004547748
RCV004547747
RCV004547750
RCV004549453
RCV004547850
RCV004549906
RCV004549990
RCV004549994
RCV004738041
RCV004549987
RCV004551717
RCV004553459
RCV003117736
RCV005225339
Acute myeloid leukemia Benign; Likely benign rs140724578, rs28698582 RCV005893912
RCV005899980
Cervical cancer Benign; Likely benign rs140724578, rs28698582 RCV005893914
RCV005899982
Clear cell carcinoma of kidney Benign; Likely benign rs146402466 RCV005899988
Associations from Text MiningDisease associations identified through Pubtator
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