Male Infertility Database

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Gene id

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

ACTA2 Gene UCSC Ensembl

Aliases

ACTSA

Gene name

actin alpha 2, smooth muscle

Alternate names

actin, aortic smooth muscle, actin, alpha 2, smooth muscle, aorta, alpha-cardiac actin, cell growth-inhibiting gene 46 protein,

Gene location

10q23.31 (88991396: 88935073) Exons: 10 NC_000010.11

Gene summary(Entrez)

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

OMIM

615847

SNPs

rs1131692251

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0

rs1131692250

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs147088100

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853248G>A
NC_000023.10   g.70073098G>A
NG_012574.2   g.60470C>T
NG_012574.1   g.60470C>T
NM_031276.2   c.405C>T
NM_031276.3   c.405C>T
NM_001003811.1   c.450C>T
NM_001003811.2   c.450C>T
XM_011530994.1   c.405C>T
XM_017029649.1   c.405C>T|SEQ=[G/A]|GE

rs143246552

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853093T>C
NC_000023.10   g.70072943T>C
NG_012574.2   g.60625A>G
NG_012574.1   g.60625A>G
NM_031276.3   c.466A>G
NM_031276.2   c.466A>G
NM_001003811.2   c.511A>G
NM_001003811.1   c.511A>G
XM_011530994.1   c.466A>G
XM_017029649.1   c.466A>G
NP_112566.2

rs140984555

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70605421C>T
NC_000023.10   g.69825271C>T
NG_012574.2   g.308297G>A
NG_012574.1   g.308297G>A
NM_031276.2   c.2047G>A
NM_031276.3   c.2047G>A
NM_001003811.1   c.2092G>A
NM_001003811.2   c.2092G>A
XM_017029652.2   c.856G>A
XM_011530994.1   c.2047G>A
XM_01

rs140883175

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174

rs61733416

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63318367G>A
NC_000018.9   g.60985600G>A
NG_009361.1   g.6014C>T
NM_000633.2   c.300C>T
NM_000657.2   c.300C>T
XM_011526135.3   c.300C>T
XR_935248.3   n.1693C>T
XM_017025917.2   c.300C>T|SEQ=[G/A]|GENE=BCL2

rs7226979

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63257737C>A
NC_000018.10   g.63257737C>G
NC_000018.10   g.63257737C>T
NC_000018.9   g.60924970C>A
NC_000018.9   g.60924970C>G
NC_000018.9   g.60924970C>T
NG_009361.1   g.66644G>T
NG_009361.1   g.66644G>C
NG_009361.1   g.66644G>A|SEQ=[C/A/G/T]|GENE=BCL

rs4471514

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.95273561C>A
NC_000012.12   g.95273561C>T
NC_000012.11   g.95667337C>A
NC_000012.11   g.95667337C>T
NG_028987.2   g.60816C>A
NG_028987.2   g.60816C>T
NG_028987.1   g.60816C>A
NG_028987.1   g.60816C>T|SEQ=[C/A/T]|GENE=VEZT

rs2057951

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

rs1801018

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63318646T>C
NC_000018.9   g.60985879T>C
NG_009361.1   g.5735A>G
NM_000633.2   c.21A>G
NM_000657.2   c.21A>G
XM_011526135.3   c.21A>G
XR_935248.3   n.1414A>G
XM_017025917.2   c.21A>G|SEQ=[T/C]|GENE=BCL2

rs1800477

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63318540C>T
NC_000018.9   g.60985773C>T
NG_009361.1   g.5841G>A
NM_000633.2   c.127G>A
NM_000657.2   c.127G>A
XM_011526135.3   c.127G>A
XR_935248.3   n.1520G>A
XM_017025917.2   c.127G>A
NP_000624.2   p.Ala43Thr
NP_000648.2   p.Ala43Thr
XP_011524437.1   p.

rs16959755

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.58168185T>A
NC_000016.10   g.58168185T>C
NC_000016.9   g.58202089T>A
NC_000016.9   g.58202089T>C|SEQ=[T/A/C]|GENE=CSNK2A2

rs2242444

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.58165766C>T
NC_000016.9   g.58199670C>T|SEQ=[C/T]|GENE=CSNK2A2

rs2242445

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.58165299G>A
NC_000016.10   g.58165299G>T
NC_000016.9   g.58199203G>A
NC_000016.9   g.58199203G>T|SEQ=[G/A/T]|GENE=CSNK2A2

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

rs6525433

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853309T>C
NC_000023.10   g.70073159T>C
NG_012574.2   g.60409A>G
NG_012574.1   g.60409A>G
NM_031276.3   c.344A>G
NM_031276.2   c.344A>G
NM_001003811.2   c.389A>G
NM_001003811.1   c.389A>G
XM_011530994.1   c.344A>G
XM_017029649.1   c.344A>G
NP_112566.2

rs4844247

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70670451C>T
NC_000023.10   g.69890301C>T
NG_012574.2   g.243267G>A
NG_012574.1   g.243267G>A
NM_031276.3   c.1306G>A
NM_031276.2   c.1306G>A
NM_001003811.2   c.1351G>A
NM_001003811.1   c.1351G>A
XM_017029652.2   c.115G>A
XM_011530994.1   c.1306G>A
XM_01

rs72609647

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.12678428T>G
NC_000024.9   g.14790357T>G|SEQ=[T/G]|GENE=TTTY15

rs1800682

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.88990206A>G
NC_000010.10   g.90749963A>G
NG_009089.2   g.4676A>G
NG_011541.1   g.6185T>C|SEQ=[A/G]|GENE=ACTA2
FAS   355

Protein Summary

Protein general information

P62736

Name: Actin, aortic smooth muscle (Alpha actin 2) (Cell growth inhibiting gene 46 protein) [Cleaved into: Actin, aortic smooth muscle, intermediate form]

Length: 377 Mass: 42009

Sequence

MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEH
GIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRT
TGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDF
ENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRK
CF

Structural information

Interpro:	IPR004000 IPR020902 IPR004001
Prosite:	PS00406 PS00432 PS01132
MINT:
STRING:	ENSP00000402373

Other Databases

GeneCards: ACTA2 Malacards: ACTA2

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0019901	protein kinase binding	ISS	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0014829	vascular smooth muscle co ntraction	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0032991	protein-containing comple x	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0090131	mesenchyme migration	ISS	biological process
GO:0010628	positive regulation of ge ne expression	ISS	biological process
GO:0044297	cell body	ISS	cellular component
GO:0030175	filopodium	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045893	positive regulation of tr anscription, DNA-template d	TAS	biological process
GO:0030485	smooth muscle contractile fiber	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0014829	vascular smooth muscle co ntraction	IEA	biological process
GO:0008217	regulation of blood press ure	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0072144	glomerular mesangial cell development	IEP	biological process
GO:0009615	response to virus	IEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

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Pathway id	Pathway name
hsa04371	Apelin signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04926	Relaxin signaling pathway

Diseases

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Associated diseases	References
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Patent ductus arteriosus	KEGG:H01630
Moyamoya disease	KEGG:H01396
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Patent ductus arteriosus	KEGG:H01630
Moyamoya disease	KEGG:H01396
Thoracic aortic aneurysm	PMID:21212136
Thoracic aortic aneurysm	PMID:19639654
Lymphedema	PMID:21510802
Spermatogenic defects	MIK: 31037746

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
31037746	Spermatoge nic defect s			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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