Aliases for ACTA2 Gene
Aliases for ACTA2 Gene
External Ids for ACTA2 Gene
- HGNC: 130
- Entrez Gene: 59
- Ensembl: ENSG00000107796
- OMIM: 102620
- UniProtKB: P62736
Previous GeneCards Identifiers for ACTA2 Gene
- GC10M089576
- GC10M089916
- GC10M090826
- GC10M090359
- GC10M090684
- GC10M084329
Summaries for ACTA2 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 smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
GeneCards Summary for ACTA2 Gene
ACTA2 (Actin, Alpha 2, Smooth Muscle, Aorta) is a Protein Coding gene. Diseases associated with ACTA2 include Multisystemic Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6. Among its related pathways are ERK Signaling and Apelin signaling pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTG2.
UniProtKB/Swiss-Prot for ACTA2 Gene
-
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
-
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.
Additional gene information for ACTA2 Gene
- Monarch Initiative
- Search for ACTA2 at DataMed
- Search for ACTA2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTA2 Gene
Genomics for ACTA2 Gene
GeneHancer (GH) Regulatory Elements for ACTA2 Gene
Promoters and enhancers for ACTA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ACTA2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ACTA2 gene promoter:
-
- STAT1
- AP-1
- Nkx2-5
Regulatory Element Products
Genomic Locations for ACTA2 Gene
Genomic Locations for ACTA2 Gene
- chr10:88,935,074-88,991,390
- (GRCh38/hg38)
- Size:
- 56,317 bases
- Orientation:
- Minus strand
- chr10:90,694,831-90,751,147
- (GRCh37/hg19)
- Size:
- 56,317 bases
- Orientation:
- Minus strand
Genomic View for ACTA2 Gene
Genes around ACTA2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q23.31 by Entrez Gene
- 10q23.31 by HGNC
- 10q23.31 by Ensembl
ACTA2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ACTA2 Gene
Proteins for ACTA2 Gene
-
Protein details for ACTA2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P62736-ACTA_HUMAN
- Recommended name:
- Actin, aortic smooth muscle
- Protein Accession:
- P62736
- B2R8A4
- P03996
- P04108
- Q6FI19
Protein attributes for ACTA2 Gene
- Size:
- 377 amino acids
- Molecular mass:
- 42009 Da
- Quaternary structure:
-
- Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.
- Miscellaneous:
-
- In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.
Protein Expression for ACTA2 Gene
Post-translational modifications for ACTA2 Gene
- Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.
- Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
- (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ACTA2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for ACTA2 (alpha-Smooth Muscle Actin)
- Novus Biologicals Antibodies for ACTA2
- Invitrogen Antibodies for ACTA2
- antibodies-online: Search results for 287 available Smooth Muscle Actin Antibodies ranked by validation data
- Compare Top Smooth Muscle Actin Antibodies
-
Recommended
- 169 WB Antibodies (anti-human)
- 45 IHC (p) Antibodies (anti-human)
- 22 IHC Antibodies (anti-human)
- 17 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 97 WB Antibodies (anti-mouse)
- 21 IHC (p) Antibodies (anti-mouse)
- 9 IHC Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 89 WB Antibodies (anti-rat)
- 25 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 11 IHC Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
- GeneTex ACTA2 Antibody for ACTA2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACTA2
- Sino Biological Antibodies for ACTA2
Protein Products
-
OriGene Purified Proteins for ACTA2
- Search Origene for MassSpec and Protein Over-expression Lysates for ACTA2
- Origene Custom Protein Services for ACTA2
- ProSpec Recombinant Proteins for ACTA2
- Search GeneTex for Proteins for ACTA2
No data available for DME Specific Peptides for ACTA2 Gene
Domains & Families for ACTA2 Gene
Gene Families for ACTA2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for ACTA2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACTA2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P62736- Family:
-
- Belongs to the actin family.
Function for ACTA2 Gene
Molecular function for ACTA2 Gene
- UniProtKB/Swiss-Prot Function:
- Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated in response to enterovirus 71 (EV71) infection.
- GENATLAS Biochemistry:
- actin,alpha 2,smooth muscle,aorta,major constituent of thin filaments
Phenotypes From GWAS Catalog for ACTA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005524 | ATP binding | IEA | -- |
| GO:0019901 | protein kinase binding | ISS | -- |
Phenotypes for ACTA2 Gene
- MGI mutant phenotypes for ACTA2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ACTA2:
Animal Models for ACTA2 Gene
- MGI Knock Outs for ACTA2:
-
- Acta2 Acta2<tm1Rjs>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACTA2
-
CRISPR Products
-
OriGene CRISPR knockouts for ACTA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTA2
- Applied Biological Materials CRISPR for ACTA2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTA2
- GenScript: Design CRISPR guide RNA sequences for ACTA2
miRNA for ACTA2 Gene
- miRTarBase miRNAs that target ACTA2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACTA2
- Browse OriGene Inhibitory RNA Products For ACTA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTA2
Clone Products
- Sino Biological Human cDNA Clone for ACTA2
- VectorBuilder custom plasmid, inducible vectors for ACTA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACTA2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ACTA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTA2
- genomics-online: cdna clones - Search results for 130 available Smooth Muscle Actin gene related products
- Overview of 130 available Smooth Muscle Actin gene related products
- orf clones - Search results for 130 available Smooth Muscle Actin gene related products
- Overview of 130 available Smooth Muscle Actin gene related products
- Applied Biological Materials Clones for ACTA2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ACTA2 Gene
Localization for ACTA2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACTA2 Gene
- Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 2 |
- Actin filaments (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA | 23580065 |
| GO:0005737 | cytoplasm | IDA,ISS | 11927518 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0015629 | actin cytoskeleton | IEA | -- |
Pathways & Interactions for ACTA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Actin Nucleation by ARP-WASP Complex |
.41
.35
|
|
| 2 | PAK Pathway |
.56
|
|
| 3 | VEGF Pathway (Qiagen) |
.66
|
|
| 4 | fMLP Pathway |
.43
|
|
| 5 | Sertoli-Sertoli Cell Junction Dynamics | ||
Pathways by source for ACTA2 Gene
2 BioSystems pathways for ACTA2 Gene
2 Reactome pathways for ACTA2 Gene
3 KEGG pathways for ACTA2 Gene
8 GeneGo (Thomson Reuters) pathways for ACTA2 Gene
43 Qiagen pathways for ACTA2 Gene
1 Cell Signaling Technology pathway for ACTA2 Gene
Interacting Proteins for ACTA2 Gene
GPS-Prot Interaction Network for ACTA2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006936 | muscle contraction | TAS | -- |
| GO:0008217 | regulation of blood pressure | IEA | -- |
| GO:0009615 | response to virus | IEP | 16548883 |
| GO:0010628 | positive regulation of gene expression | ISS | -- |
| GO:0014829 | vascular smooth muscle contraction | IEA | -- |
Drugs & Compounds for ACTA2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Latrunculin A | Experimental | Pharma | Inhibitor of actin assembly and polymerization | 0 | ||
| Phenethyl isothiocyanate | Investigational | Pharma | Target | 12 | ||
| CK 666 | Pharma | Arp2/3 inhibitor; inhibits actin polymerization | 0 | |||
| CK 869 | Pharma | Arp2/3 inhibitor; inhibits actin polymerization | 0 | |||
| Wiskostatin | Pharma | N-WASP inhibitor; inhibits Arp2/3 activation | 0 |
(5) Tocris Compounds for ACTA2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 187-1, N-WASP inhibitor | N-WASP inhibitor; inhibits actin assembly | 380488-27-7 |
| CK 666 | Arp2/3 inhibitor; inhibits actin polymerization | 442633-00-3 |
| CK 869 | Arp2/3 inhibitor; inhibits actin polymerization | 388592-44-7 |
| Latrunculin A | Inhibitor of actin assembly and polymerization | 76343-93-6 |
| Wiskostatin | N-WASP inhibitor; inhibits Arp2/3 activation | 253449-04-6 |
(8) ApexBio Compounds for ACTA2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| CK 666 | 442633-00-3 | |
| CK 869 | 388592-44-7 | |
| Cytochalasin D | inhibitor of actin polymerization, selective | 22144-77-0 |
| Jasplakinolide | 102396-24-7 | |
| Latrunculin A | 76343-93-6 | |
| Phalloidin | 17466-45-4 | |
| SMIFH2 | 340316-62-3 | |
| Wiskostatin | 253449-04-6 |
Transcripts for ACTA2 Gene
mRNA/cDNA for ACTA2 Gene
- (3) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (1088) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000224784 1349 bps (uc001kfp.4)
- ENST00000415557 878 bps (uc057utg.1)
- ENST00000458159 744 bps (uc057utf.1)
- ENST00000480297 884 bps (uc057ute.1)
- ENST00000482085 755 bps (uc057uti.1)
Unigene Clusters for ACTA2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ACTA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTA2
- Applied Biological Materials CRISPR for ACTA2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTA2
- GenScript: Design CRISPR guide RNA sequences for ACTA2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACTA2
- Browse OriGene Inhibitory RNA Products For ACTA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTA2
Clone Products
- Sino Biological Human cDNA Clone for ACTA2
- VectorBuilder custom plasmid, inducible vectors for ACTA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACTA2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ACTA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTA2
- genomics-online: cdna clones - Search results for 130 available Smooth Muscle Actin gene related products
- Overview of 130 available Smooth Muscle Actin gene related products
- orf clones - Search results for 130 available Smooth Muscle Actin gene related products
- Overview of 130 available Smooth Muscle Actin gene related products
- Applied Biological Materials Clones for ACTA2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ACTA2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Smooth Muscle (Muscoskeletal System)
- Smooth Muscle Cells Prechordal Mesenchyme
- Vascular Smooth Muscle Cells Splanchnic Mesoderm
- Airway Smooth Muscle Cells Trachea
- Vascular Smooth Muscle Cells Veins
- Vascular Smooth Muscle Cells Dorsal Aorta
- Mesenchymal Stem Cells
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
- Vascular Smooth Muscle Cells Dorsal Aorta
- Vascular Smooth Muscle Cells Coronary Capillary Plexus
- Vascular Smooth Muscle Cells Aortic Arch Arteries
- Vascular Smooth Muscle Cells Coronary Vessels
- Umbilical Cord (Extraembryonic Tissues)
-
Endothelium (Cardiovascular System)
- Mesenchymal Stem Cells Microvessels
- Pericytes Microvessels
- Vascular Smooth Muscle Cells Veins
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
- Adult Endothelial Cells Blood Brain Barrier
- Bone (Muscoskeletal System)
- Epithelial Cells
- Cartilage (Muscoskeletal System)
- NULL (Uncategorized)
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Multinuclear Myocyte Extraocular Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Inner Cell Mass (Early Embryonic Tissues)
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
- Dental Pulp Stem Cells Dental Pulp
-
Liver (Hepatobiliary System)
- Pericytes Sinusoids
- Adult liver progenitor cells
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Vascular Smooth Muscle Cells Splanchnic Mesoderm
- PureStem E15, Meso-prx/latp Progenitor
-
Testis (Reproductive System)
- Peritubular Myoid Cells Testis Cord
- Testicular Interstitial Cells Testis Interstitium
-
Gonad
- Peritubular Myoid Cells Testis Cord
- Primordial Germ Cells Primitive Gonad
- Lung (Respiratory System)
-
Brain (Nervous System)
- Pericytes Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
- Placenta (Extraembryonic Tissues)
- Blood (Hematopoietic System)
-
Head Mesenchyme (Muscoskeletal System)
- Smooth Muscle Cells Prechordal Mesenchyme
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Kidney (Urinary System)
- Vascular Smooth Muscle Cells Afferent Arteriole
- Colon (Gastrointestinal Tract)
- Gut Tube (Gastrointestinal Tract)
- Intestine (Gastrointestinal Tract)
- Dermis (Integumentary System)
- Fibroblasts
- Paraxial Mesoderm (Gastrulation Derivatives)
- Breast (Uncategorized)
- Hair (Integumentary System)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for ACTA2 Gene
This gene is overexpressed in Artery - Tibial (x7.3), Artery - Coronary (x5.7), Artery - Aorta (x5.5), Esophagus - Gastroesophageal Junction (x4.1), and Esophagus - Muscularis (x4.0).
This gene is overexpressed in Heart (9.9) and Monocytes (9.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACTA2 Gene
NURSA nuclear receptor signaling pathways regulating expression of ACTA2 Gene:
ACTA2SOURCE GeneReport for Unigene cluster for ACTA2 Gene:
Hs.500483Evidence on tissue expression from TISSUES for ACTA2 Gene
- Muscle(4.7)
- Lung(4.6)
- Nervous system(4.5)
- Intestine(4.3)
- Pancreas(4.2)
- Stomach(4.2)
- Eye(4.1)
- Kidney(3.7)
- Heart(3.5)
- Liver(3.5)
- Skin(3.2)
- Spleen(2.8)
- Gall bladder(2.7)
- Adrenal gland(2.1)
- Bone(2)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTA2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- pharynx
- skull
Thorax:
- aorta
- chest wall
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- abdominal wall
- appendix
- biliary tract
- duodenum
- intestine
- large intestine
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- rectum
- testicle
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs and template standards for ACTA2
-
OriGene qPCR primer pairs for ACTA2
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for ACTA2 Gene
Orthologs for ACTA2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | ACTC 34 |
|
OneToOne | |
| ACTA2 33 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACTA2 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | ACTA2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ACTA2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ACTA2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Acta2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Acta2 33 |
|
||
| chicken (Gallus gallus) |
Aves | ACTG2 34 |
|
ManyToMany | |
| ACTA2 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | MGC75582 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | acta2 34 |
|
OneToMany | |
| acta1a 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Act5C 35 |
|
|
|
| Act42A 35 |
|
|
|||
| Act79B 35 |
|
|
|||
| Act57B 35 |
|
|
|||
| Act88F 35 |
|
|
|||
| Act87E 35 |
|
|
|||
| Arp53D 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | act-2 35 |
|
|
|
| act-3 35 |
|
|
|||
| act-1 35 |
|
|
|||
| act-5 35 |
|
|
|||
| F42C5.9 35 |
|
|
|||
| soybean (Glycine max) |
eudicotyledons | Gma.1913 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os12g0163700 33 |
|
- Species where no ortholog for ACTA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ACTA2 Gene
- ENSEMBL:
- Gene Tree for ACTA2 (if available)
- TreeFam:
- Gene Tree for ACTA2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ACTA2: view image
Paralogs for ACTA2 Gene
Paralogs for ACTA2 Gene
(33) SIMAP similar genes for ACTA2 Gene using alignment to 5 proteins:
- ACTA_HUMAN
- D2JYH4_HUMAN
- F6QUT6_HUMAN
- F6UVQ4_HUMAN
- Q13707_HUMAN
Pseudogenes.org Pseudogenes for ACTA2 Gene
Variants for ACTA2 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1031989186 | uncertain-significance, Thoracic aortic aneurysm and aortic dissection, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome | 88,952,763(-) | G/A | 5_prime_UTR_variant, intron_variant | |
| rs1057518929 | uncertain-significance, Arterial tortuosity, Descending aortic aneurysm, not specified | 88,935,354(-) | G/C | coding_sequence_variant, missense_variant | |
| rs1057521105 | uncertain-significance, not specified, Aortic aneurysm, familial thoracic 6 | 88,941,291(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1060500132 | uncertain-significance, Aortic aneurysm, familial thoracic 6 | 88,947,313(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1060500133 | uncertain-significance, Aortic aneurysm, familial thoracic 6 | 88,941,829(-) | G/A | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv948130 | CNV | duplication | 23825009 |
| nsv831943 | CNV | gain | 17160897 |
| nsv831942 | CNV | gain | 17160897 |
| nsv825504 | CNV | loss | 20364138 |
| esv3624145 | CNV | loss | 21293372 |
| esv3624144 | CNV | gain | 21293372 |
| esv3624143 | CNV | loss | 21293372 |
| esv3624139 | CNV | gain | 21293372 |
Residual Variation Intolerance Score:
31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.13;
2.98% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ACTA2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTA2 Gene
Disorders for ACTA2 Gene
(25) MalaCards diseases for ACTA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multisystemic smooth muscle dysfunction syndrome |
|
|
| aortic aneurysm, familial thoracic 6 |
|
|
| moyamoya disease 5 |
|
|
| aortic aneurysm, familial thoracic 2 |
|
|
| connective tissue disease |
|
|
Search ACTA2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ACTA_HUMAN- Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease. {ECO:0000269 PubMed:19409525}.
- Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:17994018, ECO:0000269 PubMed:19409525, ECO:0000269 PubMed:19639654}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Moyamoya disease 5 (MYMY5) [MIM:614042]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a puff of smoke (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269 PubMed:20970362}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]: A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. {ECO:0000269 PubMed:20734336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ACTA2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ACTA2 Gene
Publications for ACTA2 Gene
- Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. (PMID: 19409525) Guo DC … Milewicz DM (American journal of human genetics 2009) 3 4 22 58
- Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PMID: 17994018) Guo DC … Milewicz DM (Nature genetics 2007) 3 4 22 58
- Analysis of ACTA2 in European Moyamoya disease patients. (PMID: 20970362) Roder C … Krischek B (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011) 3 4 58
- Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). (PMID: 21212136) Disabella E … Arbustini E (Heart (British Cardiac Society) 2011) 3 44 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
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Sources for ACTA2 Gene
- (1) GeneCards
- (2) HGNC
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