Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	59
Gene name	Actin alpha 2, smooth muscle
Gene symbol	ACTA2
Synonyms (NCBI Gene)	ACTSASMDYS
Chromosome	10
Chromosome location	10q23.31
Summary	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 co

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112602953	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs112901682	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121434526	G>A	Pathogenic	Missense variant, coding sequence variant
rs141933412	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Synonymous variant, coding sequence variant
rs199773697	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs387906592	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515325	T>C	Pathogenic	Coding sequence variant, missense variant
rs397516683	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs746972765	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs762567614	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs772862676	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728019	T>C	Pathogenic	Missense variant, initiator codon variant
rs794728021	C>T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728025	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs869025352	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886039303	G>A	Pathogenic	Coding sequence variant, missense variant
rs1060500134	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793016	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1254836237	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1554841843	A>C	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041870	hsa-miR-484	CLASH	23622248
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763741	hsa-miR-147	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT1545058	hsa-miR-3133	CLIP-seq
MIRT1545059	hsa-miR-3148	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT1545060	hsa-miR-3910	CLIP-seq
MIRT1545061	hsa-miR-3978	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT1545062	hsa-miR-4493	CLIP-seq
MIRT1545063	hsa-miR-4511	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763741	hsa-miR-147	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763741	hsa-miR-147	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT1545058	hsa-miR-3133	CLIP-seq
MIRT1545059	hsa-miR-3148	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT1545060	hsa-miR-3910	CLIP-seq
MIRT2425924	hsa-miR-3942-3p	CLIP-seq
MIRT1545061	hsa-miR-3978	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT2425925	hsa-miR-4477a	CLIP-seq
MIRT1545062	hsa-miR-4493	CLIP-seq
MIRT1545063	hsa-miR-4511	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT2425926	hsa-miR-4789-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq

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Transcription factor	Regulation	Reference
HEY1	Repression	18239137
HEY2	Repression	18239137

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IDA	11927518, 12355421, 17464107
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0014829	Process	Vascular associated smooth muscle contraction	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	ISS
GO:0030485	Component	Smooth muscle contractile fiber	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0044297	Component	Cell body	ISS
GO:0061870	Process	Positive regulation of hepatic stellate cell migration	IEA
GO:0061874	Process	Positive regulation of hepatic stellate cell contraction	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0072051	Process	Juxtaglomerular apparatus development	IEA
GO:0072144	Process	Glomerular mesangial cell development	IEP	17464107
GO:0090131	Process	Mesenchyme migration	ISS
GO:2000491	Process	Positive regulation of hepatic stellate cell activation	IEA

MIM	HGNC	e!Ensembl
102620	130	ENSG00000107796

P62736

Protein name

Actin, aortic smooth muscle (EC 3.6.4.-) (Alpha-actin-2) (Cell growth-inhibiting gene 46 protein) [Cleaved into: Actin, aortic 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00022	Actin	4 → 377	Actin	Family

Sequence

MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF

Sequence length

377

Interactions

View interactions

	KEGG		Reactome
	Vascular smooth muscle contraction Apelin signaling pathway Motor proteins Relaxin signaling pathway		Smooth Muscle Contraction NOTCH4 Intracellular Domain Regulates Transcription

842

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACTA2-related disorder	Pathogenic; Likely pathogenic	rs387906592, rs397516685, rs112901682	RCV004532396 RCV000778290 RCV004734613
alterations of great arteries and veins	Pathogenic	rs387906592	RCV000415107
Aortic aneurysm, familial thoracic 2	Pathogenic	rs121434526	RCV000581791
Aortic aneurysm, familial thoracic 6	Likely pathogenic; Pathogenic	rs2133273980, rs112901682, rs2133261286, rs2133270221, rs794728025, rs112602953, rs794728021, rs111799340, rs878854466, rs886038978, rs746972765, rs772862676, rs886039303, rs2494570485, rs2494528886 View all (8 more)	RCV001362509 RCV001377371 RCV001795828 RCV001923663 RCV003633484 RCV000234479 RCV000533011 RCV000645628 RCV002876823 RCV000227796 RCV001854977 RCV000645627 RCV000692888 RCV000700774 RCV003320030 RCV003320031 RCV000019938 RCV000019939 RCV000019940 RCV000228180 RCV002531810 RCV000645621 RCV000551317 RCV000822015 RCV000055647 RCV000055648
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs121434526, rs121434527	RCV005628228 RCV005628229
Connective tissue disorder	Pathogenic	rs387906592	RCV000415107
Descending aortic dissection	Pathogenic	rs2133256226	RCV002260546
Familial aortopathy	Likely pathogenic; Pathogenic	rs794728021, rs886039303, rs112901682	RCV000779683 RCV000780814 RCV004700355
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs112602953, rs794728021, rs112901682, rs886038978, rs746972765, rs772862676, rs886039303, rs121434526, rs121434527, rs121434528, rs387906592, rs869025352, rs397516685	RCV000608387 RCV000770644 RCV002372107 RCV002310910 RCV000771179 RCV001170401 RCV006386784 RCV000246692 RCV003352750 RCV002310630 RCV000181023 RCV002314193 RCV000181024 RCV000143866
Isolated thoracic aortic aneurysm	Likely pathogenic; Pathogenic	rs397516685	RCV001374803
Moyamoya disease 5	Likely pathogenic; Pathogenic	rs112602953, rs746972765, rs121434527, rs121434528, rs387906592, rs112901682	RCV002485186 RCV004796132 RCV000022435 RCV000022436 RCV000022438 RCV004795340
Multisystemic smooth muscle dysfunction syndrome	Likely pathogenic; Pathogenic	rs112602953, rs746972765, rs886039303, rs387906592, rs112901682	RCV002485186 RCV004796132 RCV001265589 RCV000022437 RCV004795340 RCV001164780 RCV001267897
See cases	Likely pathogenic; Pathogenic	rs112901682	RCV002274892
Thoracic aortic aneurysm or dissection	Likely pathogenic; Pathogenic	rs772862676	RCV005252843

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aneurysm of descending aorta	Uncertain significance	rs1057518929	RCV000415323
Arterial tortuosity	Uncertain significance	rs1057518929	RCV000415323
Cervical cancer	Likely benign	rs41284110	RCV005916335
Congenital aneurysm of ascending aorta	Uncertain significance	rs772919504	RCV001824881
Connective tissue dysplasia	Uncertain significance	rs1306745024	RCV003458515
Lung cancer	Likely benign	rs41284110	RCV005916337
Moyamoya disease	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs111265233, rs886047455, rs886047451, rs143005546, rs760471677, rs367977687, rs772919504	RCV000284041 RCV000377840 RCV000345832 RCV000317478 RCV000314858 RCV000389043 RCV001824881
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs78562283, rs11202908	RCV005916249 RCV005916699
Sarcoma	Likely benign	rs41284110	RCV005916336
Thoracic aortic aneurysm	Benign	rs714887	RCV003148651
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs2133269765	RCV005920728

Show/Hide Text Mining Associations (121)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Lung Injury	Associate	20813889
Adenocarcinoma	Associate	34397867
Adenocarcinoma of Lung	Stimulate	27900369
AIDS Arteritis Central Nervous System	Associate	24293535, 24353327, 27176728
Aneurysm	Associate	24293535, 24353327, 34244757
Angiopathy Hereditary With Nephropathy Aneurysms And Muscle Cramps	Associate	32093627
Aortic Aneurysm	Associate	21248741, 26637293, 34244757, 38486025
Aortic Aneurysm Familial Thoracic 1	Associate	19409525, 21248741, 21937134, 23099432, 25759435, 28652363, 35896809, 38486025
Aortic Aneurysm Thoracic	Associate	22753406, 22978789, 23099432, 26017485, 29202781, 29300374, 30526509, 36053285
Aortic Diseases	Associate	19409525, 25759435, 35896809, 38044429
Aortic Dissection	Associate	19409525, 21248741, 21288906, 21815248, 22753406, 22978789, 24243736, 25759435, 28652363, 28855619, 29202781, 31752940, 33083483, 35567597, 36053285, 38044429, 38486025 View all (2 more)
Aortic Dissection	Stimulate	36007983
Arterial calcification of infancy	Associate	27176728
Arterial Occlusive Diseases	Associate	19409525, 22831780, 24293535, 24353327, 29300374, 33199432
Atherosclerosis	Associate	30529831, 37377008
Bipolar Disorder	Associate	28117838
Brain Stem Neoplasms	Associate	29591721
Carcinoma Hepatocellular	Associate	33929972
Carcinoma Non Small Cell Lung	Inhibit	34985374
Carcinoma Pancreatic Ductal	Inhibit	32173982
Carcinoma Pancreatic Ductal	Associate	36319832
Cardiomyopathies	Associate	10330430, 24736382
Cardiomyopathy Dilated	Associate	10330430, 24367596
Cardiomyopathy Hypertrophic Familial	Associate	10330430
Cardiomyopathy Restrictive	Associate	36174041
Cardiovascular Diseases	Stimulate	36007983
Cardiovascular Diseases	Associate	38044429
Carotid Artery Diseases	Associate	35567597
Carotid Artery Injuries	Associate	32093627
Central Nervous System Vascular Malformations	Associate	34857515
Cerebral Infarction	Associate	19409525, 24293535, 24353327, 37794518
Cerebrovascular Disorders	Associate	22831780, 26637293, 28814167, 33199432
Clubfoot	Associate	35292718
Colorectal Neoplasms	Associate	30786729
Coronary Artery Disease	Associate	19409525, 21248741, 24243736, 29202781
Coronary Disease	Associate	26637293
Cushing's symphalangism	Associate	29591721
Diabetes Mellitus Type 1	Associate	33140399
Diabetic Angiopathies	Associate	35567597
Disease	Associate	35567597
Dissection Thoracic Aorta	Associate	25759435, 29669321
Down Syndrome	Associate	27666924
Ductus Arteriosus Patent	Associate	22753406, 22790431, 22831780, 29300374, 35567597
Dupuytren Contracture	Associate	26458763
Ectopia Lentis	Associate	34087854
Edema	Associate	38013282
Endometrial Neoplasms	Associate	35805203
Ependymoma	Associate	30649797
Familial Primary Pulmonary Hypertension	Associate	25644172, 35427808, 36007983
Fibrosis	Associate	27605418, 33245228, 33465566, 33965260, 34827680, 35941890, 37446633, 39683581
Gait Disorders Neurologic	Associate	34857515
Genetic Diseases Inborn	Associate	31752940
Glaucoma	Associate	26396484
Glucosephosphate Dehydrogenase Deficiency	Associate	32630408
Hemorrhage	Associate	29202781
Holoprosencephaly	Associate	29591721
Hyperplasia	Associate	35805203
Hypertension Pulmonary	Associate	22831780
Hypoxia	Associate	37180146
Idiopathic Noncirrhotic Portal Hypertension	Associate	37674431
Idiopathic Pulmonary Fibrosis	Stimulate	32750409, 34209854
Infarction	Associate	27176728
Inflammation	Associate	39683581
Intracranial Aneurysm	Associate	24615040
Keratoconus	Associate	19956410
Klinefelter Syndrome	Inhibit	32418646
Leiomyoma	Associate	37231028
Leukemia Biphenotypic Acute	Associate	32509885
Leukoencephalopathies	Associate	33199432
Livedoid Vasculopathy	Associate	29300374, 31752940, 36053285
Liver Diseases	Associate	35567597
Liver Failure	Associate	30352845, 35726350
Lung Neoplasms	Associate	25999661
Lymphoma	Associate	34166375
Malformations of Cortical Development	Associate	34857515
Marfan Syndrome	Associate	20354336
Mastocytosis Systemic	Stimulate	30352845
Melanoma	Associate	34179721
Mesenteric Vascular Occlusion	Associate	28652363, 31752940
Mesothelioma	Associate	36901697
Mitral Valve Prolapse	Associate	27213335
Moyamoya Disease	Associate	19409525, 22753406, 22831780, 28652363, 29202781, 29591721, 35567597
Muscular Diseases	Associate	29202781
Muscular Dystrophy Duchenne	Associate	11121445
Mydriasis	Associate	22790431
Mydriasis Congenital	Associate	22831780, 29300374, 32093627
Necrosis	Associate	38013282
Neoplasm Metastasis	Stimulate	27900369
Neoplasm Metastasis	Associate	34397867
Neoplasm Metastasis	Inhibit	35896973
Neoplasms	Associate	24264315, 26949839, 28472177, 30744595, 34985374, 35896973, 36508166, 36939254, 38013282, 38335304
Neoplasms	Inhibit	34179721
Neoplasms Vascular Tissue	Associate	29591721
Non Muscle Invasive Bladder Neoplasms	Associate	32786144, 33388091
Nonsyndromic Deafness	Associate	21248741
Ovarian Neoplasms	Associate	30448260, 35412951
Periodontitis	Associate	36438900
Polycythemia Vera	Associate	35427808
Polymicrogyria	Associate	29591721
Postpartum Hemorrhage	Associate	29202781
Prostatic Neoplasms	Associate	24264315
Pulmonary Arterial Hypertension	Associate	29300374
Pupil Disorders	Associate	29300374
Renal Artery Obstruction	Associate	22831780
Septo Optic Dysplasia	Associate	29591721
Smooth Muscle Tumor	Associate	22790431, 22831780, 24293535, 24353327, 27176728, 29202781, 29300374, 32093627, 32779812, 33199432, 34087854, 35567597
Status Asthmaticus	Stimulate	33245228
Stomach Neoplasms	Associate	36508166, 36603607, 37180146, 37513656, 39696985
Stroke	Associate	19409525, 21248741, 24293535, 24353327, 29202781, 33199432
Thoracic Diseases	Associate	19409525, 35567597, 38044429
Triple Negative Breast Neoplasms	Associate	35896973
Ureteral Neoplasms	Stimulate	34862858
Ureteral Obstruction	Associate	38013282
Urethral Neoplasms	Associate	36939254
Urinary Bladder Diseases	Associate	22831780
Urinary Bladder Neoplasms	Associate	30744595, 36131343, 36472061
Urogenital Diseases	Associate	35567597
Uterine Inertia	Associate	29202781
Vascular Diseases	Associate	19409525, 22831780, 28652363
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	24293535, 24353327
Wieacker syndrome	Associate	27070589

ACTA2 (actin alpha 2, smooth muscle)