ACTG2 (actin gamma 2, smooth muscle)

Gene

• Entrez ID: 72
• Gene name: Actin gamma 2, smooth muscle
• Gene symbol: ACTG2
• Synonyms: ACT, ACTA3, ACTE, ACTL3, ACTSG, MMIHS5, VSCM, VSCM1
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT733552	hsa-miR-193a-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33510768

Transcription factors

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005869	Component	Dynactin complex	IBA	21873635
GO:0006936	Process	Muscle contraction	TAS
GO:0010628	Process	Positive regulation of gene expression	ISS
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

Other IDs

• MIM: 102545
• HGNC: 145
• e!Ensembl: ENSG00000163017

Protein

• UniProt ID: 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

• Sequence:

  MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQ
  SKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKM
  TQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLD
  LAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKS
  YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVL
  SGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISK
  PEYDEAGPSIVHRKCF

• Sequence length: 376

Pathways

KEGG:

Vascular smooth muscle contraction
Motor proteins
Cytoskeleton in muscle cells

Reactome:

Smooth Muscle Contraction

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anonychia	ANONYCHIA	rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Berdon syndrome	Megacystis microcolon intestinal hypoperistalsis syndrome	rs1553787823	24676022, 24337657, 25998219
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	15059925
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hyperparathyroidism	Hyperparathyroidism	rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170
Intestinal pseudoobstruction	Intestinal Pseudo-Obstruction, Chronic intestinal pseudo-obstruction	rs587776966, rs765907815	25998219, 24337657, 26813947, 24676022
Megacystis-microcolon-intestinal hypoperistalsis syndrome	Megacystis-microcolon-intestinal hypoperistalsis syndrome	rs587777384, rs587777385, rs78001248, rs587777387, rs587777388, rs786205435, rs797044959, rs797045725, rs777696417, rs1553787619, rs1573462811
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	28383543, 24676022, 26669664, 19098683, 25782675, 24337657, 22960657
Situs inversus	Situs Inversus	rs528302390, rs1596264554
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211
Visceral myopathy	Visceral Myopathy, Visceral Myopathy, Familial, Familial visceral myopathy	rs587777383, rs587777384, rs587777385, rs78001248, rs587777386, rs587777387, rs587777388, rs786205435, rs587777870, rs730880256, rs797044959, rs864309490, rs864309491, rs768290597, rs864309492, rs777696417, rs1553787823, rs1057516046, rs1553787619, rs1553396458, rs1596904322, rs1573468797, rs1573461481, rs1573462811, rs757905857, rs1680192455	24676022, 25998219, 26813947, 26938784, 22960657, 24337657, 24777424, 22960657

Unknown
Disease name	Disease term	dbSNP ID	References
Arachnodactyly	Arachnodactyly
Cardiac neoplasms	Heart Neoplasm
Congenital exomphalos	Congenital exomphalos
Congenital malrotation of intestine	Congenital malrotation of intestine
Congenital omphalocele	Congenital omphalocele
Dysphagia	Deglutition Disorders
Hydronephrosis	Hydronephrosis
Malnutrition	Malnutrition
Microcolon	Microcolon
Micrognathism	Micrognathism
Multicystic renal dysplasia	Multicystic Dysplastic Kidney
Myopathic intestinal pseudoobstruction	Myopathic intestinal pseudoobstruction
Visceral neuropathy	Visceral Neuropathy, Familial, Autosomal Dominant	rs1592232580, rs200796676