ACTG2 actin, gamma 2, smooth muscle, enteric [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: ACTG2provided by HGNC
Official Full Name: actin, gamma 2, smooth muscle, entericprovided by HGNC
Primary source: HGNC:145
See related: Ensembl:ENSG00000163017; HPRD:00016; MIM:102545; Vega:OTTHUMG00000129813
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACT; ACTE; ACTA3; ACTL3; ACTSG
Summary: 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 tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]

Help top of page

Genomic context

Location :: 2p13.1

Sequence :: Chromosome: 2; NC_000002.11 (74120093..74146780)

See ACTG2 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

MYOCD can discriminate among several juxtaposed CArG elements, presumably through its novel partnership with NKX3.1, to optimally transactivate the human ACTG2 promoter
Title: Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gamma 2 actin gene (enteric type) polymorphism is not associated with obstetric cholestasis or preeclampsia.
The insertion-deletion polymorphism in intron 1 of the gamma 2 actin gene is unlikely to play any significant role in obstetric cholestasis or preeclampsia in patients from eastern Finland.
Title: Gamma 2 actin gene (enteric type) polymorphism is not associated with obstetric cholestasis or preeclampsia.
TNF-alpha suppresses TGF-beta1-induced myofibroblast (fibroproliferative) phenotypic genes, for example, alpha-SMA, collagen type 1A, and fibronectin at the mRNA level.
Title: TNF-alpha suppresses alpha-smooth muscle actin expression in human dermal fibroblasts: an implication for abnormal wound healing.
SMGA gene activity in prostate epithelia is due, in part, to the androgen-dependent expression of Nkx 3.1
Title: The smooth muscle gamma-actin gene is androgen responsive in prostate epithelia.
It was suggested that peritubular alphaSMA-positive myofibroblastic cells, in collaboration with interstitial macrophages, contribute to the progression of interstitial fibrosis in diabetic nephropathy.
Title: Correlations of tissue macrophages and cytoskeletal protein expression with renal fibrosis in patients with diabetes mellitus.
RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.
Title: RNA polymerase II accumulation in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF)	PubMed
Tat	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed
	tat	HIV-1 Tat induces actin cytoskeletal rearrangements through p21-activated kinase 1 (PAK1) and downstream activation of the endothelial NADPH oxidase, an effect that is lost by introduction of mutations into the Tat cysteine-rich or basic domains	PubMed
matrix	gag	The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules)	PubMed
retropepsin	gag-pol	Actin, one of the most abundant proteins of the cell, is hydrolyzed by the human immunodeficiency virus type 1 (HIV-1) protease during acute infection of cultured human T lymphocytes	PubMed
	gag-pol	HIV-1 protease cleaves actin in vitro at amino acid residues 66-67, 94-95, and 126-127	PubMed
reverse transcriptase	gag-pol	The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules)	PubMed

Go to the HIV-1, Human Protein Interaction Database

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
P63267	P04278	SHBG	HPRD	PubMed
BioGRID:106587	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106587	BioGRID:108325	EMD	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106587	BioGRID:115779	KAT5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106587	BioGRID:115783	NOP56	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106587	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
muscle contraction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cell periphery	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: actin, gamma-enteric smooth muscle

Names: actin, gamma-enteric smooth muscle; alpha-actin 3; alpha-actin-3; gamma-2-actin; actin-like protein; smooth muscle gamma actin; smooth muscle gamma-actin

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001199893.1 → NP_001186822.1 actin, gamma-enteric smooth muscle isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, that results in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AK304523, BC012617, BI850192, X16940

Consensus CDS

CCDS56124.1

UniProtKB/TrEMBL

B4E315

UniProtKB/TrEMBL

E9PG30

UniProtKB/Swiss-Prot

P63267

Related

ENSP00000386929, OTTHUMP00000203034, ENST00000409731, OTTHUMT00000328090

Conserved Domains (2) summary

cd00012
Location:8 – 331
Blast Score: 1281

ACTIN; Actin; An ubiquitous protein involved in the formation of filaments that are a major component of the cytoskeleton. Interaction with myosin provides the basis of muscular contraction and many aspects of cell motility. Each actin protomer binds one ...

pfam00022
Location:4 – 333
Blast Score: 1515

Actin; Actin
NM_001615.3 → NP_001606.1 actin, gamma-enteric smooth muscle isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC012617, BI850192, X16940

Consensus CDS

CCDS1930.1

UniProtKB/Swiss-Prot

P63267

Related

ENSP00000295137, OTTHUMP00000160245, ENST00000345517, OTTHUMT00000252044

Conserved Domains (2) summary

cd00012
Location:8 – 374
Blast Score: 1492

ACTIN; Actin; An ubiquitous protein involved in the formation of filaments that are a major component of the cytoskeleton. Interaction with myosin provides the basis of muscular contraction and many aspects of cell motility. Each actin protomer binds one ...

pfam00022
Location:4 – 376
Blast Score: 1711

Actin; Actin

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

74120093..74146780

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

73854905..73882444

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC073046.7	AAX88909.1
genomic	AY970439.1	AAX82248.1
genomic	AY970440.1	AAX82249.1
genomic	CH471053.2	EAW99712.1
		EAW99713.1
genomic	D00654.2	BAA00546.1
mRNA	AK124338.1	BAG54029.1
mRNA	AK304523.1	BAG65327.1
mRNA	AK310215.1	None
mRNA	AK312955.1	BAG35794.1
mRNA	BC012617.1	AAH12617.1
mRNA	BC094877.1	AAH94877.1
mRNA	BI850192.1	None
mRNA	CR536515.1	CAG38753.1
mRNA	CR541794.1	CAG46593.1
mRNA	X16940.1	CAA34814.1
other-genetic	DQ892947.2	ABM83873.1
other-genetic	DQ896195.2	ABM87194.1