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	72
Gene name	Actin gamma 2, smooth muscle
Gene symbol	ACTG2
Synonyms (NCBI Gene)	ACTACTA3ACTEACTL3ACTSGMMIHS5VSCMVSCM1
Chromosome	2
Chromosome location	2p13.1
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 tissue

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SNP ID	Visualize variation	Clinical significance	Consequence
rs78001248	C>T	Pathogenic	Coding sequence variant, missense variant
rs140943831	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs587777383	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs587777384	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587777385	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777386	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777387	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777388	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs587777870	GC>AA	Pathogenic	Missense variant, coding sequence variant
rs730880256	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs757905857	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs768290597	C>A,G	Pathogenic, uncertain-significance	Intron variant
rs797044959	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309490	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs864309491	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant, intron variant
rs864309492	G>A	Pathogenic	Coding sequence variant, missense variant
rs869312168	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057516046	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057520694	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057522054	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553396458	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1573461481	C>T	Pathogenic	Coding sequence variant, missense variant
rs1573462811	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1573468797	C>G	Likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT733552	hsa-miR-193a-3p	Luciferase reporter assayqRT-PCRWestern blotting	33510768

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Transcription factor	Regulation	Reference
MYOCD	Activation	19797053
NKX3-1	Activation	19797053

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	ISS
GO:0032982	Component	Myosin filament	ISS
GO:0044297	Component	Cell body	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071944	Component	Cell periphery	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090131	Process	Mesenchyme migration	ISS

MIM	HGNC	e!Ensembl
102545	145	ENSG00000163017

P63267

Protein name

Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (Alpha-actin-3) (Gamma-2-actin) (Smooth muscle gamma-actin) [Cleaved into: Actin, gamma-enteric 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.

PDB

6JAT , 8V2O , 8V2Z , 8V30

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00022	Actin	3 → 376	Actin	Family

Tissue specificity

TISSUE SPECIFICITY: In the intestine, abundantly expressed in smooth muscle cells of muscularis mucosa and muscularis propria. Also detected in intestinal vascular smooth muscle cells. {ECO:0000269|PubMed:26647307}.

Sequence

MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQ
SKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKM
TQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLD
LAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKS
YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVL
SGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISK
PEYDEAGPSIVHRKCF

Sequence length

376

Interactions

View interactions

	KEGG		Reactome
	Vascular smooth muscle contraction Motor proteins Cytoskeleton in muscle cells		Smooth Muscle Contraction

100

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACTG2-related disorder	Likely pathogenic; Pathogenic	rs587777385, rs78001248, rs1553396458	RCV004542869 RCV004529991 RCV004527668
Chronic intestinal pseudoobstruction	Likely pathogenic; Pathogenic	rs2104825201, rs587777383, rs587777386, rs587777387, rs797044959, rs869312168	RCV001647273 RCV000210361 RCV000851221 RCV000210354 RCV000210360 RCV000210357
Constipation	Likely pathogenic; Pathogenic	rs587777386	RCV005241237
Intestinal obstruction	Likely pathogenic	rs587777383	RCV001533000
Megacystis	Pathogenic	rs587777387, rs797044959	RCV000210354 RCV000210360
Megacystis, microcolon, hypoperistalsis syndrome	Likely pathogenic	rs2104815901	RCV002052417
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Pathogenic; Likely pathogenic	rs587777384, rs587777385, rs78001248, rs587777386, rs587777387, rs587777388, rs1573461481, rs1573462811, rs864309492, rs797044959, rs1247270735	RCV001535392 RCV001535395 RCV001535393 RCV001535394 RCV002505051 RCV001535396 RCV001535397 RCV002280001 RCV002289104 RCV002466887 RCV001535812 RCV003883289 RCV003990221 RCV001535810
Visceral myopathy 1	Likely pathogenic; Pathogenic	rs587777383, rs2104821169, rs587777384, rs587777385, rs78001248, rs587777386, rs587777387, rs587777388, rs587777870, rs730880256, rs1553396458, rs797044959, rs864309490, rs864309491, rs768290597 View all (9 more)	RCV004719163 RCV001824260 RCV000119266 RCV000119267 RCV000119268 RCV000119269 RCV000119270 RCV000119271 RCV000119272 RCV000119274 RCV000144704 RCV000157596 RCV002471339 RCV001376053 RCV000202556 RCV000202512 RCV000202559 RCV000202479 RCV003883289 RCV003985239 RCV000408625 RCV000585773 RCV000824849 RCV000855535 RCV000855536 RCV000995481 RCV001093598 RCV001263535
Visceral neuropathy, familial, 3, autosomal dominant	Likely pathogenic; Pathogenic	rs587777386, rs587777387	RCV000680451 RCV000680452

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Intestinal pseudo-obstruction	Uncertain significance	rs2104825219	RCV001824111

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adie Syndrome	Associate	24889065
Aortic Aneurysm Abdominal	Associate	34852854
Aortic Dissection	Associate	33910387
Breast Neoplasms	Associate	25774687
Carcinogenesis	Associate	27107594
Choledochal Cyst	Associate	30019982
Colorectal Neoplasms	Associate	23721165, 30786729, 35927308
Colorectal Neoplasms	Inhibit	35652208
Death	Associate	31769566
Gastrointestinal Diseases	Associate	33883208
Intestinal Pseudo Obstruction	Associate	25782675, 26813947, 28383543, 28422808, 30019982, 31769566, 32814715, 33883208, 36893487, 37572398, 37643495
Leiomyosarcoma	Associate	19901961
Lymphatic Metastasis	Associate	27107594
Lymphedema	Associate	25782675
Malnutrition	Associate	28422808
Megacystis microcolon intestinal hypoperistalsis syndrome	Associate	24676022, 25782675, 26813947
Megaduodenum	Associate	26813947, 28422808
Mesothelioma	Associate	20043850
Mesothelioma Malignant	Associate	20043850
Muscular Diseases	Associate	31427716
Necrosis	Associate	38013282
Neoplasms	Associate	24889065, 27107594, 32243390, 36806735, 38013282
Neuroendocrine Tumors	Associate	27107594
Ocular Motility Disorders	Associate	28422808
Prostatic Neoplasms	Associate	32243390
Pyloric Stenosis Hypertrophic	Associate	30019982
Smooth Muscle Tumor	Associate	24676022, 37572398
Thymoma	Associate	34104648
Ureteral Obstruction	Associate	38013282
Visceral Myopathy Familial	Associate	25782675
Volvulus Of Midgut	Associate	30019982

ACTG2 (actin gamma 2, smooth muscle)