• Gene id: 92

Gene Summary

• Gene Symbol: ACVR2A   Gene   UCSC   Ensembl
• Aliases: ACTRII, ACVR2
• Gene name: activin A receptor type 2A
• Alternate names: activin receptor type-2A, activin A receptor, type IIA,
• Gene location: 2q22.3-q23.1 (147844516: 147930826)     Exons: 12     NC_000002.12
• Gene summary(Entrez): This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase
• OMIM: 164951

SNPs

rs62180545

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

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs10250822

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

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

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

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs9852810

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

NC_000003.12   g.37027478G>A
NC_000003.11   g.37068969G>A
NG_007109.2   g.39129G>A|SEQ=[G/A]|GENE=MLH1

rs4647269

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

NC_000003.12   g.37016100C>T
NC_000003.11   g.37057591C>T
NG_007109.2   g.27751C>T|SEQ=[C/T]|GENE=MLH1

rs1394205

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

NC_000002.12   g.49154446C>G
NC_000002.12   g.49154446C>T
NC_000002.11   g.49381585C>G
NC_000002.11   g.49381585C>T
NG_008146.1   g.5046G>C
NG_008146.1   g.5046G>A
NM_000145.4   c.-29G>C
NM_000145.4   c.-29G>A
NM_000145.3   c.-29G>C
NM_000145.3   c.-29G>A
NM_181446.3   c.

rs1129332

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

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

rs6166

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

NC_000002.12   g.48962782C>T
NC_000002.11   g.49189921C>T
NG_008146.1   g.196710G>A
NM_000145.4   c.2039G>A
NM_000145.3   c.2039G>A
NM_181446.3   c.1961G>A
NM_181446.2   c.1961G>A
XM_011532736.2   c.1247G>A
XM_011532734.2   c.1808G>A
XM_011532733.2   c.2141G>A
XM_011532  

rs6165

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

NC_000002.12   g.48963902C>A
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NC_000002.11   g.49191041C>A
NC_000002.11   g.49191041C>G
NC_000002.11   g.49191041C>T
NG_008146.1   g.195590G>T
NG_008146.1   g.195590G>C
NG_008146.1   g.195590G>A
NM_000145.4   c.91

rs10762738

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

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

rs369191560

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

NC_000002.12   g.48982976C>A
NC_000002.12   g.48982976C>T
NC_000002.11   g.49210115C>A
NC_000002.11   g.49210115C>T
NG_008146.1   g.176516G>T
NG_008146.1   g.176516G>A
NM_000145.4   c.604G>T
NM_000145.4   c.604G>A
NM_000145.3   c.604G>T
NM_000145.3   c.604G>A
NM_181446.  

rs147685926

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

NC_000002.12   g.48963865T>C
NC_000002.11   g.49191004T>C
NG_008146.1   g.195627A>G
NM_000145.4   c.956A>G
NM_000145.3   c.956A>G
NM_181446.3   c.878A>G
NM_181446.2   c.878A>G
XM_011532736.2   c.164A>G
XM_011532734.2   c.725A>G
XM_011532733.2   c.1058A>G
XM_011532735.2  

rs10249788

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

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs3757824

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

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

rs498422

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

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

rs696

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

NC_000014.9   g.35401887C>G
NC_000014.9   g.35401887C>T
NC_000014.8   g.35871093C>G
NC_000014.8   g.35871093C>T
NG_007571.1   g.7852G>C
NG_007571.1   g.7852G>A
NM_020529.3   c.*126G>C
NM_020529.3   c.*126G>A
NM_020529.2   c.*126G>C
NM_020529.2   c.*126G>A|SEQ=[C/G/T]|GE

rs1800734

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

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

rs1106042

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

NC_000012.12   g.130357093G>A
NC_000012.11   g.130841638G>A
NT_187589.1   g.34018G>A
NM_004764.4   c.1580G>A
NM_004764.5   c.1580G>A
XM_011539004.3   c.1580G>A
XM_011539002.3   c.1580G>A
XM_011539003.3   c.1580G>A
XM_011539006.3   c.440G>A
XM_011539005.1   c.1580G>A
XM_  

rs605059

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

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: P27037  
  • Name: Activin receptor type 2A (EC 2.7.11.30) (Activin receptor type IIA) (ACTR IIA) (ACTRIIA)
  • Length: 513  
  • Mass: 57848
• Sequence:

  MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVK
  QGCWLDDINCYDRTDCVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLI
  AGIVICAFWVYRHHKMAYPPVLVPTQDPGPPPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQD
  KQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFHEKGSLSDFLKANVVSWNELCHIAETMARGL
  AYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQVGTRRYMAPEVLEGAI
  NFQRDAFLRIDMYAMGLVLWELASRCTAADGPVDEYMLPFEEEIGQHPSLEDMQEVVVHKKKRPVLRDYWQKHAG
  MAMLCETIEECWDHDAEARLSAGCVGERITQMQRLTNIITTEDIVTVVTMVTNVDFPPKESSL

• Structural information:
  • Protein Domains: (192..48-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR000472  IPR011009  IPR000719  IPR008271  IPR000333  
  • Prosite: PS50011 PS00108
  • PDB: 3Q4T 3SOC 4ASX 5NH3
  • PDBsum: 3Q4T 3SOC 4ASX 5NH3
  • DIP: 520
  • STRING: ENSP00000241416
• Other Databases: GeneCards:  ACVR2A  Malacards:  ACVR2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017002	activin-activated receptor activity	IDA	contributes to
GO:0045648	positive regulation of erythrocyte differentiation	IDA	biological process
GO:0032927	positive regulation of activin receptor signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0048185	activin binding	IPI	contributes to
GO:0032924	activin receptor signaling pathway	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0048179	activin receptor complex	IBA	cellular component
GO:0043235	receptor complex	IBA	cellular component
GO:0098821	BMP receptor activity	ISS	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	TAS	biological process
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0019838	growth factor binding	IEA	molecular function
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0043621	protein self-association	IEA	molecular function
GO:0048185	activin binding	IEA	molecular function
GO:0050999	regulation of nitric-oxide synthase activity	IEA	biological process
GO:0060011	Sertoli cell proliferation	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0034711	inhibin binding	IEA	molecular function
GO:0042713	sperm ejaculation	IEA	biological process
GO:0043084	penile erection	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0098821	BMP receptor activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0015026	coreceptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	contributes to
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0034673	inhibin-betaglycan-ActRII complex	IDA	cellular component
GO:0043235	receptor complex	IPI	cellular component
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017002	activin-activated receptor activity	IDA	contributes to
GO:0045648	positive regulation of erythrocyte differentiation	IDA	biological process
GO:0032927	positive regulation of activin receptor signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0048185	activin binding	IPI	contributes to
GO:0032924	activin receptor signaling pathway	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0048179	activin receptor complex	IBA	cellular component
GO:0043235	receptor complex	IBA	cellular component
GO:0098821	BMP receptor activity	ISS	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	TAS	biological process
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0019838	growth factor binding	IEA	molecular function
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0043621	protein self-association	IEA	molecular function
GO:0048185	activin binding	IEA	molecular function
GO:0050999	regulation of nitric-oxide synthase activity	IEA	biological process
GO:0060011	Sertoli cell proliferation	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0034711	inhibin binding	IEA	molecular function
GO:0042713	sperm ejaculation	IEA	biological process
GO:0043084	penile erection	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0098821	BMP receptor activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0015026	coreceptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	contributes to
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0034673	inhibin-betaglycan-ActRII complex	IDA	cellular component
GO:0043235	receptor complex	IPI	cellular component
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05418	Fluid shear stress and atherosclerosis
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
pancreatic cancer	PMID:9714055
colon cancer	PMID:14988818
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881