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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
46
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
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (22 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Baraitser-Winter syndrome Likely pathogenic rs281875327 RCV002068712
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (24 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital anomaly of kidney and urinary tract Pathogenic rs281875326 RCV001849278
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
ACTG1-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17018783
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29125557
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 24682235
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 22170383
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 16570232, 7479776
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 9225693
★☆☆☆☆
Found in Text Mining only
Amblyopia Amblyopia Pubtator 39639254 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 23006766 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only