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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACTA2 Gene

protein-coding GIFtS: 65
GCID: GC10M090684

actin, alpha 2, smooth muscle, aorta

Explore 33 diseases affiliated with
ACTA2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Actin, Alpha 2, Smooth Muscle, Aorta¹ ²		Actin, Aortic Smooth Muscle²
ACTSA¹ ² ³ ⁵		Alpha-Cardiac Actin²
Cell Growth-Inhibiting Gene 46 Protein² ³		ACTVS³
AAT6² ⁵		Alpha-Actin-2¹
MYMY5²

External Ids:	HGNC: 130¹	Entrez Gene: 59²	Ensembl: ENSG00000107796⁷	OMIM: 102620⁵	UniProtKB: P62736³

Export aliases for ACTA2 gene to outside databases

Previous GC identifers: GC10M089576 GC10M089916 GC10M090826 GC10M090359 GC10M084329

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACTA2:

The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play

a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with

alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the

regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause

aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have

been identified. (provided by RefSeq, Nov 2008)

UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736

Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously

expressed in all eukaryotic cells

summary for ACTA2:

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 - a feature vital in actin's role as a dynamic filament

network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular

'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin

is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens

junctions. This gives mechanical support to cells and attaches them to each other and the extracellular

matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form

actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through

actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a

role in cell motility through polymerization and depolymerization of fibrils.

Gene Wiki entry for ACTA2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACTA2 gene promoter:
STAT1 AP-1 Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACTA2 promoter sequence

Search SABiosciences Chromatin IP Primers for ACTA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTA2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.3 Ensembl cytogenetic band: 10q23.31 HGNC cytogenetic band: 10q23.31

ACTA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTA2 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M090684: view genomic region (about GC identifiers)

Start:	90,694,831 bp from pter	End:	90,751,147 bp from pter
Size:	56,317 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736 (See protein sequence)

Recommended Name: Actin, aortic smooth muscle precursor

Size: 377 amino acids; 42009 Da

Subunit: 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

Subcellular location: Cytoplasm, cytoskeleton

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

Secondary accessions: B2R8A4 P03996 P04108 Q6FI19

Explore the universe of human proteins at neXtProt for ACTA2: NX_P62736

Post-translational modifications:

Oxidation of Met-46 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament

depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the (S)-S-oxide or

the (R)-S-oxide is produced (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P62736

ACTA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001135417.1 NP_001604.1

ENSEMBL proteins:

ENSP00000224784 ENSP00000398239 ENSP00000396730 ENSP00000402373

Reactome Protein details: P62736
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for ACTA2
	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	12355421
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	--	--
GO:0015629	actin cytoskeleton	IEA	--
GO:0030485	smooth muscle contractile fiber	IEA	--

ACTA2 for ontologies About GeneDecksing

ACTA2 Antibody Products:

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Assay Products for ACTA2:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACTA2 for domains About GeneDecksing

3 InterPro domains/families:

IPR004001 Actin_CS

IPR004000 Actin-related

IPR020902 Actin/actin-like_CS

Graphical View of Domain Structure for InterPro Entry P62736

ProtoNet protein and cluster: P62736

UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736

Similarity: Belongs to the actin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736

Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously

expressed in all eukaryotic cells

Induction: Up-regulated in response to enterovirus 71 (EV71) infection

Genatlas biochemistry entry for ACTA2:

actin,alpha 2,smooth muscle,aorta,major constituent of thin filaments

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ACTA2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTA2
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		hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTA2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--

ACTA2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Acta2^tm1Rjs for ACTA2
     3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Acta2):

cardiovascular system

muscle

vision/eye

ACTA2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/39 super-pathways (see all 39) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytoskeleton remodeling Slit-Robo signaling

	Cytoskeleton remodeling Slit-Robo signaling	1.00			Cell adhesion_Cadherin-mediated cell adhesion	0.28
	Development_Slit-Robo signaling	0.92			Cell adhesion Cadherin-mediated cell adhesion	0.28

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			RhoA Pathway	0.35
	Actin Nucleation and Branching	0.66			CDC42 Pathway	0.34

Clathrin-dependent protein traffic

	Clathrin-dependent protein traffic	1.00			wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	0.35
	Transport_Clathrin-coated vesicle cycle	0.66

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Smooth Muscle Contraction	0.11
	Muscle contraction	0.65

CCR3 Pathway in Eosinophils

	CCR3 Pathway in Eosinophils	1.00			Internalin Pathway	0.19
	fMLP Pathway	0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 EMD Millipore Pathways for ACTA2 (see all 7)

	Clathrin-dependent protein traffic
	Cell adhesion Gap junctions
	Cell adhesion Tight junctions
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Cytoskeleton remodeling RalA regulation pathway

5/43 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTA2 (see all 43)

	RhoA Pathway
	Paxillin Interactions
	Antioxidant Action of Vitamin-C
	Tec Kinases Signaling
	ITK and TCR Signaling

1 Cell Signaling Technology (CST) Pathway for ACTA2

Cytoskeletal Signaling

5/8 GeneGo (Thomson Reuters) Pathways for ACTA2 (see all 8)

	Cytoskeleton remodeling RalA regulation pathway
	Development Slit-Robo signaling
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
	Transport Clathrin-coated vesicle cycle

2 BioSystems Pathways for ACTA2

	Myometrial Relaxation and Contraction Pathways
	Striated Muscle Contraction

2 Reactome Pathways for ACTA2

	Smooth Muscle Contraction
	Muscle contraction

1 Kegg Pathway (Kegg details for ACTA2):

Vascular smooth muscle contraction

ACTA2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACTA2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/193 Interacting proteins for ACTA2 (P62736^{2, 3} ENSP00000224784⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 193)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTN2	P35609²^,³, ENSP00000355537⁴	MINT-7899812 I2D: score=1 STRING: ENSP00000355537
TTN	Q8WZ42²^,³	MINT-7899812 I2D: score=2
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
YWHAZ	P63104², ENSP00000309503⁴	MINT-7899812 MINT-7900157 STRING: ENSP00000309503
CREBBP	Q92793³, ENSP00000262367⁴	I2D: score=3 STRING: ENSP00000262367

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

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:0014829	vascular smooth muscle contraction	IEA	--
GO:0072144	glomerular mesangial cell development	IEP	17464107

ACTA2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for ACTA2 available from Tocris Bioscience About this table

Compound	Action	CAS #
187-1, N-WASP inhibitor	Inhibits actin assembly	[380488-27-7]
Cytochalasin D	Disrupts actin filament function	[22144-77-0]
Thymosin beta4	Potent actin polymerization regulator	[77591-33-4]

Search CenterWatch for drugs/clinical trials and news about ACTA2 / ACTA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACTA2 gene (2 alternative transcripts):

NM_001141945.1 NM_001613.2

Unigene Cluster for ACTA2:

Actin, alpha 2, smooth muscle, aorta

Hs.500483 [show with all ESTs]

Unigene Representative Sequence: BX647362

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000224784(uc001kfp.3 uc010qmy.2 uc010qmz.1) ENST00000480297

ENST00000458159 ENST00000415557 ENST00000488967 ENST00000482085 ENST00000458208(uc001kfq.3)

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		hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
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Additional cDNA sequence:

AK025094.1 AK127229.1 AK300353.1 AK300664.1 AK313294.1 AY692464.1 BC017554.2 BC093052.1

BX647362.1 CR536518.1 J05192.1 X13839.1

24/43 DOTS entries (see all 43):

DT.100689391 DT.85100459 DT.100689386 DT.100860825 DT.95167643 DT.100679892 DT.40243079 DT.70100151

DT.40123808 DT.100689393 DT.92462721 DT.95176138 DT.95167665 DT.95361305 DT.121212482 DT.121212545

DT.121212569 DT.40312861 DT.92462749 DT.100031257 DT.100851124 DT.95167644 DT.95167663 DT.100689378

24/1088 AceView cDNA sequences (see all 1088):

AA373047 AI754358 CR621459 BU627049 BP381973 BU628261 CA427647 BE839024

BP340906 AA295843 BM698417 BM694919 BU681532 BP340469 AA134573 BQ892834

BU075709 AI754238 BU731247 AI755118 CD679190 AW069130 D58245 BP373379

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACTA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ACTA2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Pericytes

Vascular Smooth Muscle Cells

Smooth Muscle

Heart

Aortic Arch Arteries

Vascular Smooth Muscle Cells

Myocardium, Neural Crest, Smooth Muscle

Heart

Coronary Capillary Plexus

Vascular Smooth Muscle Cells

Epicardium, Smooth Muscle

Heart

Dorsal Aorta

Vascular Smooth Muscle Cells

Smooth Muscle

Heart

Endocardium

Vascular Smooth Muscle Cells

Smooth Muscle

Skeletal Muscle

Extraocular Muscles

Multinuclear Myocyte

Skeletal Muscle

Lateral Plate Mesoderm

Pericytes

Developing Peritubular Myoid Cells

Reproductive System

Brain

Blood Brain Barrier

Pericytes

Pericytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/19 LifeMap Cells (see all 19)

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Neuroectoderm-derived smooth muscle cells (Generation of human ...)

Lateral plate mesoderm-derived smooth muscle cells (Generation of human ...)

See ACTA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACTA2

SOURCE GeneReport for Unigene cluster: Hs.500483

SABiosciences Expression via Pathway-Focused PCR Arrays including ACTA2:

Fibrosis in human mouse rat

Hypertension in human mouse rat

Wound Healing in human mouse rat

TGFB Signaling Targets in human mouse rat

Mesenchymal Stem Cell in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTA2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTA2 gene from 7/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACTA2¹	actin, alpha 2, smooth muscle, aorta	85.59(n) 99.73(a)		423787 NM_001031229.1 NP_001026400.1
lizard (Anolis carolinensis)	Reptilia	-- ACTA2⁶	--	81(a) 100(a)	possible ortholog 1 ↔ 1	GL343721.1(263114-263356) GL343246.1(170022-183328)
zebrafish (Danio rerio)	Actinopterygii	acta2¹	actin, alpha 2, smooth muscle, aorta	84.08(n) 98.94(a)		322509 NM_212620.1 NP_997785.1
fruit fly (Drosophila melanogaster)	Insecta	Act5C^{1 , 3}	cytoskeleton organization and biogenesis structural more³ Actin 5C¹	94(a) (best of 7)³ 81.47(n)¹ 94.41(a)¹		5C7³ 31521¹ NM_001014725.1¹ NP_001014725.1¹
worm (Caenorhabditis elegans)	Secernentea	act-2^{1 , 3}	actin³ Protein ACT-2¹	94(a) (best of 5)³ 78.28(n)¹ 94.68(a)¹		V(11079402-11080517)³ 179534¹ NM_073417.4¹ NP_505818.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	ACT2¹	actin 2	72.77(n) 85.68(a)		821411 NM_112764.3 NP_188508.1
rice (Oryza sativa)	Liliopsida	Os03g0718100¹	hypothetical protein	76.22(n) 88.33(a)		4333919 NM_001057621.1 NP_001051086.1

ENSEMBL Gene Tree for ACTA2 (if available)
TreeFam Gene Tree for ACTA2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACTA2 gene

ACTG2² ACTRT2² ACTB² ACTR1A² ACTC1² ACTL9² ACTRT1² ACTG1²

ACTL7A² ACTBL2² ACTL7B² ACTR1B² ACTRT3² ACTA1²

18/33 SIMAP similar genes for ACTA2 using alignment to 5 protein entries: ACTA_HUMAN (see all proteins) (see all similar genes):

ACTC1 PS1TP5BP1 ACTB ACTBL2 ACTG1 ACTG2

ACT POTEF POTEKP POTEE POTEI POTEJ

ACTA1 ACTR1B ACTR1A ACTRT3 ACTRT1 ACTR2

ACTA2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3816245^1,2	C,F,H,	non-pathogenic	103903972(-)	`ATCACG/ACCCAA`	2	--	int¹		25	EA NA NS EU	5073
rs762552^1,2	H	--	84329000(-)	`AAGAAA/TATAAT`	3	--	ds500¹ int¹		4	NS EA	420
rs77086884^1,2	F,	--	84329275(+)	`TGTAAC/TGGGTG`	3	--	ds500¹ nc-transcript-variant		1	WA	118
rs1062398^1,2	C,H	--	84329502(-)	`TGTCCA/CCCGCA`	5	H P	mis¹ ese³		7	MN NS EA NA	608
rs11202904^1,2	C,F,H	--	84329546(+)	`CTGATC/TCACAT`	5	* W	stg¹ ese³		8	NS EA NA	780
rs111352790^1,2	C,F	--	84329573(+)	`AGAGAG/AGCCAG`	5	/A	syn¹		2	CSA NA	4554
rs111317533^1,2	C	--	84329632(+)	`GATCTC/G/TTCAGT`	4	--	int¹ nc-transcript-variant		1	CSA	1
rs78651566^1,2		--	84329689(+)	`TAGTGC/TGGTAG`	3	--	int¹ nc-transcript-variant		1	EA	120
rs41284106^1,2	C,F,	--	84329917(+)	`AGCCAT/CGGCCC`	3	--	int¹		1	NA	120
rs114203415^1,2	C,F,	--	84330246(+)	`TGAATG/AGTTTA`	3	--	int¹		1	WA	118

HapMap Linkage Disequilibrium report for ACTA2 (90694831 - 90751147 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ACTA2
1 CNV: 4707
Human Gene Mutation Database (HGMD): ACTA2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACTA2 for disorders           About GeneDecksing

OMIM gene information: 102620
OMIM disorders: 611788
UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736

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

Defects in ACTA2 are the cause of familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]. AATs are

characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. They

are 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

Defects in ACTA2 are the cause of Moyamoya disease type 5 (MYMY5) [MIM:614042]. Moyamoya disease is 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

Defects in ACTA2 are the cause of multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834].

MSMDYS is 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

20/33 diseases for ACTA2 (see all 33): About MalaCards

aortic aneurysm multisystemic smooth muscle dysfunction syndrome thoracic aortic aneurysm familial thoracic aortic aneurysm and dissection

loeys-dietz syndrome treacher collins syndrome atrial fibrillation moyamoya disease

hemiplegia basal cell carcinoma ulcerative colitis renal cell carcinoma

cerebrovascular disease cerebral infarction aortic disease endometriosis

hepatitis b copd rhabdomyosarcoma hypertension

3 diseases from the University of Copenhagen DISEASES database for ACTA2:

Thoracic aortic aneurysm Moyamoya disease Loeys-Dietz syndrome

GeneTests: ACTA2

Thoracic Aortic Aneurysms and Aortic Dissections

Human Genome Epidemiology (HuGE) Navigator: ACTA2 (8 documents)

Export disorders for ACTA2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACTA2 gene, integrated from 9 sources (see all 133):
(articles sorted by number of sources associating them with ACTA2)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. (PubMed id 19409525)^{1, 2, 9} Guo D.-C.... Milewicz D.M. (2009)
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PubMed id 17994018)^{1, 2, 9} Guo D.-C.... Milewicz D.M. (2007)
Analysis of ACTA2 in European Moyamoya disease patients. (PubMed id 20970362)^{1, 2} Roder C.... Krischek B. (2011)
De novo ACTA2 mutation causes a novel syndrome of mul tisystemic smooth muscle dysfunction. (PubMed id 20734336)^{1, 2} Milewicz D.M....Regalado E.S. (2010)
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). (PubMed id 19639654)^{1, 2} Morisaki H.... Morisaki T. (2009)
Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. (PubMed id 16548883)^{1, 2} Leong W.F. and Chow V.T. (2006)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Structure of the human smooth muscle alpha-actin gene. Analysis of a cDNA and 5' upstream region. (PubMed id 2295650)^{1, 2} Reddy S....Ruley H.E. (1990)
Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10. (PubMed id 2398629)^{1, 3} Ueyama H....Kanda N. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 59	HGNC: 130	AceView: ACTA2	Ensembl:ENSG00000107796	euGenes: HUgn59
ECgene: ACTA2	Kegg: 59	H-InvDB: ACTA2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACTA2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTA2

Intellectual Property for ACTA2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACTA2 gene:
Search GeneIP for patents involving ACTA2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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actin, alpha 2, smooth muscle, aorta

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ACTA2 Gene

actin, alpha 2, smooth muscle, aorta

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