• Gene id: 93

Gene Summary

• Gene Symbol: ACVR2B   Gene   UCSC   Ensembl
• Aliases: ACTRIIB, ActR-IIB, HTX4
• Gene name: activin A receptor type 2B
• Alternate names: activin receptor type-2B, activin A receptor, type IIB,
• Gene location: 3p22.2 (42273657: 42353665)     Exons: 28     NC_000015.10
• Gene summary(Entrez): Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which i
• OMIM: 602730

SNPs

rs875989885

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

NC_000010.11   g.133555706G>A
NC_000010.10   g.135369210G>A
NG_052008.1   g.17570C>T
NM_130784.3   c.613C>T
NM_130784.2   c.613C>T
NM_001143764.2   c.721C>T
NM_001143764.3   c.721C>T
NM_001143764.1   c.721C>T
NM_001143763.1   c.721C>T
NP_570140.1   p.Gln205Ter
NP_001137  

rs774225566

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

NC_000010.11   g.133558953T>C
NC_000010.10   g.135372457T>C
NG_052008.1   g.14323A>G|SEQ=[T/C]|GENE=SYCE1

rs6563386

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

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs1328641

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

NC_000013.11   g.36170892C>T
NC_000013.10   g.36745029C>T
NG_033786.1   g.48724G>A|SEQ=[C/T]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1328626

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

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs937283

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

NC_000012.12   g.68808384A>G
NC_000012.11   g.69202164A>G
NG_016708.1   g.5194A>G
NM_002392.5   c.-94A>G
NM_001145339.2   c.-94A>G
XM_006719400.4   c.-281A>G|SEQ=[A/G]|GENE=MDM2

rs173665

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

NC_000019.10   g.8302030G>A
NC_000019.9   g.8366914G>A
NG_028124.1   g.11327C>T|SEQ=[G/A]|GENE=CD320

rs2855658

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

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

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

rs1422627

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

NC_000019.10   g.45913480C>G
NC_000019.10   g.45913480C>T
NC_000019.9   g.46416738C>G
NC_000019.9   g.46416738C>T
NM_001029861.2   c.*797G>C
NM_001029861.2   c.*797G>A
NM_001029861.3   c.*797G>C
NM_001029861.3   c.*797G>A|SEQ=[C/G/T]|GENE=NANOS2

rs9304651

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

NC_000019.10   g.45916515A>G
NC_000019.9   g.46419773A>G|SEQ=[A/G]|GENE=NANOS2

rs2015728

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

NC_000019.10   g.45915628G>A
NC_000019.10   g.45915628G>T
NC_000019.9   g.46418886G>A
NC_000019.9   g.46418886G>T|SEQ=[G/A/T]|GENE=NANOS2

rs4506565

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

NC_000010.11   g.112996282A>G
NC_000010.11   g.112996282A>T
NC_000010.10   g.114756041A>G
NC_000010.10   g.114756041A>T
NG_012631.1   g.51033A>G
NG_012631.1   g.51033A>T|SEQ=[A/G/T]|GENE=TCF7L2

rs7903146

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

NC_000010.11   g.112998590C>G
NC_000010.11   g.112998590C>T
NC_000010.10   g.114758349C>G
NC_000010.10   g.114758349C>T
NG_012631.1   g.53341C>G
NG_012631.1   g.53341C>T
NG_054085.1   g.746C>G
NG_054085.1   g.746C>T|SEQ=[C/G/T]|GENE=TCF7L2

rs12243326

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

NC_000010.11   g.113029056T>C
NC_000010.10   g.114788815T>C
NG_012631.1   g.83807T>C|SEQ=[T/C]|GENE=TCF7L2

rs12255372

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

NC_000010.11   g.113049143G>A
NC_000010.11   g.113049143G>T
NC_000010.10   g.114808902G>A
NC_000010.10   g.114808902G>T
NG_012631.1   g.103894G>A
NG_012631.1   g.103894G>T|SEQ=[G/A/T]|GENE=TCF7L2

Protein Summary

• Protein general information: Q13705  
  • Name: Activin receptor type 2B (EC 2.7.11.30) (Activin receptor type IIB) (ACTR IIB)
  • Length: 512  
  • Mass: 57724
• Sequence:

  MTAPWVALALLWGSLCAGSGRGEAETRECIYYNANWELERTNQSGLERCEGEQDKRLHCYASWRNSSGTIELVKK
  GCWLDDFNCYDRQECVATEENPQVYFCCCEGNFCNERFTHLPEAGGPEVTYEPPPTAPTLLTVLAYSLLPIGGLS
  LIVLLAFWMYRHRKPPYGHVDIHEDPGPPPPSPLVGLKPLQLLEIKARGRFGCVWKAQLMNDFVAVKIFPLQDKQ
  SWQSEREIFSTPGMKHENLLQFIAAEKRGSNLEVELWLITAFHDKGSLTDYLKGNIITWNELCHVAETMSRGLSY
  LHEDVPWCRGEGHKPSIAHRDFKSKNVLLKSDLTAVLADFGLAVRFEPGKPPGDTHGQVGTRRYMAPEVLEGAIN
  FQRDAFLRIDMYAMGLVLWELVSRCKAADGPVDEYMLPFEEEIGQHPSLEELQEVVVHKKMRPTIKDHWLKHPGL
  AQLCVTIEECWDHDAEARLSAGCVEERVSLIRRSVNGTTSDCLVSLVTSVTNVDLPPKESSI

• Structural information:
  • Protein Domains: (190..48-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR000472  IPR011009  IPR000719  IPR008271  IPR000333  
  • Prosite: PS50011 PS00108
  • PDB: 2H62 2QLU 4FAO 5NGV 5NHR
  • PDBsum: 2H62 2QLU 4FAO 5NGV 5NHR
  • STRING: ENSP00000340361
• Other Databases: GeneCards:  ACVR2B  Malacards:  ACVR2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0016362	activin receptor activity, type II	TAS	contributes to
GO:0004674	protein serine/threonine kinase activity	IMP	molecular function
GO:0009952	anterior/posterior pattern specification	IMP	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0019838	growth factor binding	IPI	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:0017002	activin-activated receptor activity	IBA	molecular function
GO:0048185	activin binding	IBA	molecular function
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: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:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	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:0032991	protein-containing complex	IDA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001946	lymphangiogenesis	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0004712	protein serine/threonine/tyrosine kinase activity	IEA	molecular function
GO:0009749	response to glucose	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0060840	artery development	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0019838	growth factor binding	IEA	molecular function
GO:0030324	lung development	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:0035265	organ growth	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0048185	activin binding	IEA	molecular function
GO:0048617	embryonic foregut morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0060836	lymphatic endothelial cell differentiation	IEA	biological process
GO:0060841	venous blood vessel development	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0001946	lymphangiogenesis	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0060840	artery development	ISS	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0060836	lymphatic endothelial cell differentiation	ISS	biological process
GO:0060841	venous blood vessel development	ISS	biological process
GO:0061298	retina vasculature development in camera-type eye	ISS	biological process
GO:0043235	receptor complex	IPI	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
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
Heterotaxy	KEGG:H00632
Heterotaxy	KEGG:H00632
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray