ENSG00000114739


Homo sapiens

Features
Gene ID: ENSG00000114739
  
Biological name :ACVR2B
  
Synonyms : activin A receptor type 2B / ACVR2B / Q13705
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p22.2
Gene start: 38453851
Gene end: 38493142
  
Corresponding Affymetrix probe sets: 1559548_at (Human Genome U133 Plus 2.0 Array)   220028_at (Human Genome U133 Plus 2.0 Array)   236126_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000340361
NCBI entrez gene - 93     See in Manteia.
OMIM - 602730
RefSeq - XM_017007516
RefSeq - NM_001106
RefSeq - XM_017007514
RefSeq - XM_017007515
RefSeq - XM_005265583
RefSeq Peptide - NP_001097
swissprot - Q13705
Ensembl - ENSG00000114739
  
Related genetic diseases (OMIM): 613751 - Heterotaxy, visceral, 4, autosomal, 613751
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 acvr2baENSDARG00000044422Danio rerio
 acvr2bbENSDARG00000103108Danio rerio
 ACVR2BENSGALG00000006158Gallus gallus
 Acvr2bENSMUSG00000061393Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACVR2A / P27037 / activin A receptor type 2AENSG0000012198967
P37173 / TGFBR2 / transforming growth factor beta receptor 2ENSG0000016351336
BMPR2 / Q13873 / bone morphogenetic protein receptor type 2ENSG0000020421735
ACVR1C / Q8NER5 / activin A receptor type 1CENSG0000012361230
ACVR1B / P36896 / activin A receptor type 1BENSG0000013550329
P36897 / TGFBR1 / transforming growth factor beta receptor 1ENSG0000010679928
ACVR1 / Q04771 / activin A receptor type 1ENSG0000011517028
ACVRL1 / P37023 / activin A receptor like type 1ENSG0000013956728
BMPR1B / O00238 / bone morphogenetic protein receptor type 1BENSG0000013869627
AMHR2 / Q16671 / anti-Mullerian hormone receptor type 2ENSG0000013540927
BMPR1A / P36894 / bone morphogenetic protein receptor type 1AENSG0000010777926


Protein motifs (from Interpro)
Interpro ID Name
 IPR000333  Ser/Thr protein kinase, TGFB receptor
 IPR000472  Activin types I and II receptor domain
 IPR000719  Protein kinase domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IGI
 biological_processGO:0001501 skeletal system development IEA
 biological_processGO:0001702 gastrulation with mouth forming second IEA
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0001946 lymphangiogenesis IEA
 biological_processGO:0001974 blood vessel remodeling IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway TAS
 biological_processGO:0007368 determination of left/right symmetry IEA
 biological_processGO:0007389 pattern specification process IEA
 biological_processGO:0007498 mesoderm development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0009749 response to glucose IEA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0009952 anterior/posterior pattern specification IMP
 biological_processGO:0009966 regulation of signal transduction IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030073 insulin secretion IEA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0030501 positive regulation of bone mineralization IMP
 biological_processGO:0030509 BMP signaling pathway TAS
 biological_processGO:0031016 pancreas development IEA
 biological_processGO:0032147 activation of protein kinase activity IEA
 biological_processGO:0032924 activin receptor signaling pathway IMP
 biological_processGO:0032927 positive regulation of activin receptor signaling pathway IDA
 biological_processGO:0035265 organ growth IEA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0045669 positive regulation of osteoblast differentiation IMP
 biological_processGO:0048617 embryonic foregut morphogenesis IEA
 biological_processGO:0048705 skeletal system morphogenesis IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060836 lymphatic endothelial cell differentiation IEA
 biological_processGO:0060840 artery development IEA
 biological_processGO:0060841 venous blood vessel development IEA
 biological_processGO:0061298 retina vasculature development in camera-type eye IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0043235 receptor complex IPI
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IMP
 molecular_functionGO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA
 molecular_functionGO:0004702 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity IEA
 molecular_functionGO:0004712 protein serine/threonine/tyrosine kinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016362 activin receptor activity, type II TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019838 growth factor binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048185 activin binding IEA


Pathways (from Reactome)
Pathway description
Signaling by NODAL
Regulation of signaling by NODAL
Signaling by Activin
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001651 Dextrocardia "A left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side in stead of the left." [HPO:sdoelken]
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 HP:0006695 Tricuspid and mitral valves are replaced by a single inlet valve 
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 HP:0010452 Ectopia of the spleen "An abnormal (non-anatomic) location of the spleen." [HPO:curators]
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 HP:0012020 Right aortic arch "Aorta descends on right instead of on the left." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000122641 INHBA / P08476 / inhibin beta A subunit  / reaction / complex
 ENSG00000123612 ACVR1C / Q8NER5 / activin A receptor type 1C  / complex / reaction
 ENSG00000138696 BMPR1B / O00238 / bone morphogenetic protein receptor type 1B  / reaction / complex
 ENSG00000163083 INHBB / P09529 / inhibin beta B subunit  / complex / reaction
 ENSG00000243709 LEFTY1 / O75610 / left-right determination factor 1  / complex / reaction
 ENSG00000039319 Q7Z3T8 / ZFYVE16 / zinc finger FYVE-type containing 16  / complex / reaction
 ENSG00000198742 Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1  / reaction / complex
 ENSG00000156574 NODAL / Q96S42 / nodal growth differentiation factor  / complex / reaction
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / reaction / complex
 ENSG00000101665 SMAD7 / O15105 / SMAD family member 7  / reaction / complex
 ENSG00000204217 BMPR2 / Q13873 / bone morphogenetic protein receptor type 2  / complex
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / complex / reaction
 ENSG00000136698 CFC1 / P0CG37 / cripto, FRL-1, cryptic family 1  / complex
 ENSG00000113658 SMAD5 / Q99717 / SMAD family member 5  / complex / reaction
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / reaction / complex
 ENSG00000135503 ACVR1B / P36896 / activin A receptor type 1B  / reaction / complex
 ENSG00000120693 SMAD9 / O15198 / SMAD family member 9  / reaction / complex
 ENSG00000137834 SMAD6 / O43541 / SMAD family member 6  / reaction / complex
 ENSG00000107779 BMPR1A / P36894 / bone morphogenetic protein receptor type 1A  / complex / reaction
 ENSG00000241186 TDGF1 / P13385 / teratocarcinoma-derived growth factor 1  / complex
 ENSG00000130283 GDF1 / P27539 / growth differentiation factor 1  / complex / reaction
 ENSG00000121989 ACVR2A / P27037 / activin A receptor type 2A  / complex / reaction
 ENSG00000125845 BMP2 / P12643 / bone morphogenetic protein 2  / complex / reaction
 ENSG00000143768 LEFTY2 / O00292 / left-right determination factor 2  / reaction / complex






 

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