ACTG2 (actin gamma 2, smooth muscle)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
72
Gene name Gene Name - the full gene name approved by the HGNC.
Actin gamma 2, smooth muscle
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTG2
Synonyms (NCBI Gene) Gene synonyms aliases
ACT, ACTA3, ACTE, ACTL3, ACTSG, MMIHS5, VSCM, VSCM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MMIHS5, VSCM1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.1
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 the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissue
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
SNP ID Visualize variation Clinical significance Consequence
rs78001248 C>T Pathogenic Coding sequence variant, missense variant
rs140943831 G>A,T Likely-pathogenic Coding sequence variant, synonymous variant, missense variant
rs587777383 C>A,T Pathogenic Missense variant, coding sequence variant
rs587777384 G>A,T Pathogenic Missense variant, coding sequence variant
rs587777385 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT733552 hsa-miR-193a-3p Luciferase reporter assay, qRT-PCR, Western blotting 33510768
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
MYOCD Activation 19797053
NKX3-1 Activation 19797053
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005524 Function ATP binding IEA
GO:0005615 Component Extracellular space HDA 23580065
GO:0005737 Component Cytoplasm ISS
GO:0005829 Component Cytosol TAS
GO:0005869 Component Dynactin complex IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
102545 145 ENSG00000163017
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P63267
Protein name Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (Alpha-actin-3) (Gamma-2-actin) (Smooth muscle gamma-actin) [Cleaved into: Actin, gamma-enteric smooth muscle, intermediate form]
Protein function Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
PDB 6JAT , 8V2O , 8V2Z , 8V30
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00022 Actin 3 → 376 Actin Family
Tissue specificity TISSUE SPECIFICITY: In the intestine, abundantly expressed in smooth muscle cells of muscularis mucosa and muscularis propria. Also detected in intestinal vascular smooth muscle cells. {ECO:0000269|PubMed:26647307}.
Sequence
Sequence length 376
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Vascular smooth muscle contraction
Motor proteins
Cytoskeleton in muscle cells 		  Smooth Muscle Contraction
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (13)
Causal
Disease term Disease name dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome rs1553787823 24676022, 24337657, 25998219
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 15059925
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Visceral neuropathy Visceral Neuropathy, Familial, Autosomal Dominant ClinVar
Visceral Myopathy visceral myopathy 1, familial visceral myopathy GenCC
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome GenCC
Show/Hide Text Mining Associations (31)
Associations from Text Mining
Disease Name Relationship Type References
Adie Syndrome Associate 24889065
Aortic Aneurysm Abdominal Associate 34852854
Aortic Dissection Associate 33910387
Breast Neoplasms Associate 25774687
Carcinogenesis Associate 27107594
Choledochal Cyst Associate 30019982
Colorectal Neoplasms Associate 23721165, 30786729, 35927308
Colorectal Neoplasms Inhibit 35652208
Death Associate 31769566
Gastrointestinal Diseases Associate 33883208