Acta2 MGI Mouse Gene Detail - MGI:87909 - actin alpha 2, smooth muscle, aorta

About Help FAQ

Acta2 Gene Detail

Symbol

Acta2
Name

actin alpha 2, smooth muscle, aorta
Synonyms

0610041G09Rik, Actvs, alphaSMA, a-SMA, SMAalpha, SMalphaA

Feature Type

protein coding gene
IDs

MGI:87909
NCBI Gene: 11475
Alliance

gene page
Transcription Start Sites

29 TSS

more

Sequence Map

Chr19:34218490-34232990 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 29.41 cM, cytoband C3
Mapping Data

2 experiments

more

SNPs within 2kb

629 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_87909	protein coding gene	Chr19:34217736-34232990 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025055	protein coding gene	Chr19:32975923-32990150 (-)
A/J	MGP_AJ_G0025033	protein coding gene	Chr19:31369957-31384128 (-)
AKR/J	MGP_AKRJ_G0024999	protein coding gene	Chr19:32431921-32446169 (-)
BALB/cJ	MGP_BALBcJ_G0025029	protein coding gene	Chr19:31485693-31500167 (-)
C3H/HeJ	MGP_C3HHeJ_G0024788	protein coding gene	Chr19:32532380-32546636 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025470	protein coding gene	Chr19:33921975-33936222 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022888	protein coding gene	Chr19:30815262-30829275 (-)
CAST/EiJ	MGP_CASTEiJ_G0024258	protein coding gene	Chr19:32267976-32284356 (-)
CBA/J	MGP_CBAJ_G0024765	protein coding gene	Chr19:35508218-35522445 (-)
DBA/2J	MGP_DBA2J_G0024897	protein coding gene	Chr19:31272464-31286706 (-)
FVB/NJ	MGP_FVBNJ_G0024858	protein coding gene	Chr19:31115306-31129704 (-)
LP/J	MGP_LPJ_G0024983	protein coding gene	Chr19:33059644-33076502 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024889	protein coding gene	Chr19:35312881-35327130 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025528	protein coding gene	Chr19:32527506-32541629 (-)
PWK/PhJ	MGP_PWKPhJ_G0024007	protein coding gene	Chr19:31077703-31092955 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023808	protein coding gene	Chr19:31385461-31399831 (-)
WSB/EiJ	MGP_WSBEiJ_G0024322	protein coding gene	Chr19:32606071-32620242 (-)

more

Human Ortholog

ACTA2, actin alpha 2, smooth muscle

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ACTA2, actin alpha 2, smooth muscle
Synonyms

ACTSA, SMDYS
Links

HGNC:130

NCBI Gene ID: 59

neXtProt AC: NX_P62736

UniProt: P62736
Chr Location

10q23.31; chr10:88934822-88991339 (-) GRCh38

MGI Vertebrate Homology

Acta2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ACTA2
Gene Tree

Acta2

more

Diseases

2 with human ACTA2 associations

				Human Disease	Mouse Models
				Moyamoya disease IDs Moyamoya disease DOID:13099 ICD10CM:I67.5 ICD9CM:437.5 MESH:D009072 NCI:C84895 OMIM:252350 OMIM:300845 OMIM:607151 OMIM:608796 OMIM:614042 OMIM:615750 ORDO:2573 ORDO:280679 ORDO:401945 UMLS_CUI:C0026654
				thoracic aortic aneurysm IDs thoracic aortic aneurysm DOID:14004 EFO:0004282 MESH:D017545 NCI:C27001 OMIM:132900 OMIM:607086 OMIM:607087 OMIM:611788 OMIM:613780 OMIM:615436 ORDO:91387 UMLS_CUI:C0162872

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

13 phenotypes from 2 alleles in 3 genetic backgrounds
24 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

14
Endonuclease-mediated

7
Gene trapped

2
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

57 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function.

less

All GO Annotations

37
GO References

18

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

3021
Tissues

789
cDNA Data

378
Literature Summary

1521

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase acta2

ZFIN acta2

less

All Sequences

43
RefSeq

4
UniProt

4
CCDS

CCDS29757.1

Ensembl

ENSMUSG00000035783 (Evidence)
NCBI Gene

11475

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000035783	Ensembl Gene Model \| MGI Sequence Detail	14501	C57BL/6J	± kb
	transcript	ENSMUST00000039631	Ensembl \| MGI Sequence Detail	2035	Not Applicable
	polypeptide	ENSMUSP00000048218	Ensembl \| MGI Sequence Detail	377	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000003675 actin, aortic smooth muscle

(term hierarchy)
EC

3.6.4.-
InterPro Domains

IPR020902 Actin/actin-like conserved site

IPR004001 Actin, conserved site

IPR004000 Actin family

IPR043129 ATPase, nucleotide binding domain
GlyGen

P62737 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

less

All nucleic 413

Genomic 7

cDNA 378

Primer pair 24

Other 4

Microarray probesets 3

less

MGD-MRK-1095, MGI:1915627

more

Summaries

All 1632

Developmental Gene Expression 1521

Gene Ontology 18

Phenotypes 24
Earliest

J:9473 Min BH, et al., Nucleotide sequence of a mouse vascular smooth muscle alpha-actin cDNA. Nucleic Acids Res. 1988 Nov 11;16(21):10374
Latest

J:358819 Li Y, et al., A Galectin-9-Driven CD11c(high) Decidual Macrophage Subset Suppresses Uterine Vascular Remodeling in Preeclampsia. Circulation. 2024 May 21;149(21):1670-1688

TSS for Acta2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr158951	Chr19:34232725-34232742 (-)	256 bp
Tssr158950	Chr19:34231601-34231660 (-)	1,359 bp
Tssr5491	Chr19:34229982-34229991 (-)	3,003 bp
Tssr158949	Chr19:34229958-34229974 (-)	3,024 bp
Tssr158948	Chr19:34229926-34229947 (-)	3,053 bp
Tssr158947	Chr19:34229901-34229923 (-)	3,078 bp
Tssr158946	Chr19:34229869-34229894 (-)	3,108 bp
Tssr158945	Chr19:34229848-34229867 (-)	3,132 bp
Tssr158944	Chr19:34229249-34229261 (-)	3,735 bp
Tssr158943	Chr19:34229233-34229240 (-)	3,753 bp
Tssr158942	Chr19:34229176-34229221 (-)	3,791 bp
Tssr158941	Chr19:34228472-34228478 (-)	4,515 bp
Tssr158940	Chr19:34226731-34226759 (-)	6,245 bp
Tssr158939	Chr19:34226656-34226660 (-)	6,332 bp
Tssr5490	Chr19:34226086-34226102 (-)	6,896 bp
Tssr158938	Chr19:34226068-34226085 (-)	6,913 bp
Tssr158937	Chr19:34225854-34225943 (-)	7,091 bp
Tssr158936	Chr19:34225444-34225448 (-)	7,544 bp
Tssr158935	Chr19:34224102-34224131 (-)	8,873 bp
Tssr158934	Chr19:34223576-34223591 (-)	9,406 bp
Tssr158933	Chr19:34223549-34223554 (-)	9,438 bp
Tssr158932	Chr19:34223535-34223544 (-)	9,450 bp
Tssr158931	Chr19:34222484-34222506 (-)	10,495 bp
Tssr158930	Chr19:34222391-34222439 (-)	10,575 bp
Tssr158929	Chr19:34222346-34222365 (-)	10,634 bp
Tssr158928	Chr19:34220857-34220900 (-)	12,111 bp
Tssr158927	Chr19:34220743-34220761 (-)	12,238 bp
Tssr158926	Chr19:34219089-34219100 (-)	13,895 bp
Tssr158925	Chr19:34219055-34219084 (-)	13,920 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24