Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACVR2B (activin A receptor, type IIB)

Identity

Other namesACTRIIB
ActR-IIB
HTX4
HGNC (Hugo) ACVR2B
LocusID (NCBI) 93
Location 3p22.2
Location_base_pair Starts at 38495790 and ends at 38534633 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACVR2B   174
Cards
Entrez_Gene (NCBI)ACVR2B  93  activin A receptor, type IIB
GeneCards (Weizmann)ACVR2B
Ensembl hg19 (Hinxton)ENSG00000114739 [Gene_View]  chr3:38495790-38534633 [Contig_View]  ACVR2B [Vega]
Ensembl hg38 (Hinxton)ENSG00000114739 [Gene_View]  chr3:38495790-38534633 [Contig_View]  ACVR2B [Vega]
ICGC DataPortalENSG00000114739
cBioPortalACVR2B
AceView (NCBI)ACVR2B
Genatlas (Paris)ACVR2B
WikiGenes93
SOURCE (Princeton)ACVR2B
Genomic and cartography
GoldenPath hg19 (UCSC)ACVR2B  -     chr3:38495790-38534633 +  3p22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACVR2B  -     3p22.2   [Description]    (hg38-Dec_2013)
EnsemblACVR2B - 3p22.2 [CytoView hg19]  ACVR2B - 3p22.2 [CytoView hg38]
Mapping of homologs : NCBIACVR2B [Mapview hg19]  ACVR2B [Mapview hg38]
OMIM602730   613751   
Gene and transcription
Genbank (Entrez)AB209449 AF075005 BC096243 BC096244 BC096245
RefSeq transcript (Entrez)NM_001106
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_011791 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)ACVR2B
Cluster EST : UnigeneHs.174273 [ NCBI ]
CGAP (NCI)Hs.174273
Alternative Splicing : Fast-db (Paris)GSHG0020706
Alternative Splicing GalleryENSG00000114739
Gene ExpressionACVR2B [ NCBI-GEO ]     ACVR2B [ SEEK ]   ACVR2B [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13705 (Uniprot)
NextProtQ13705  [Medical]
With graphics : InterProQ13705
Splice isoforms : SwissVarQ13705 (Swissvar)
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Activin_rcpt    Kinase-like_dom    Prot_kinase_dom    Ser/Thr_kinase_AS    TGFB_receptor   
Related proteins : CluSTrQ13705
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam01064    pfam00069   
DMDM Disease mutations93
Blocks (Seattle)Q13705
PDB (SRS)2H62    2QLU    4FAO   
PDB (PDBSum)2H62    2QLU    4FAO   
PDB (IMB)2H62    2QLU    4FAO   
PDB (RSDB)2H62    2QLU    4FAO   
Human Protein AtlasENSG00000114739
Peptide AtlasQ13705
HPRD04106
IPIIPI00437565   
Protein Interaction databases
DIP (DOE-UCLA)Q13705
IntAct (EBI)Q13705
FunCoupENSG00000114739
BioGRIDACVR2B
IntegromeDBACVR2B
STRING (EMBL)ACVR2B
Ontologies - Pathways
QuickGOQ13705
Ontology : AmiGOgastrulation with mouth forming second  kidney development  lymphangiogenesis  blood vessel remodeling  protein serine/threonine kinase activity  protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  protein serine/threonine/tyrosine kinase activity  transforming growth factor beta-activated receptor activity  protein binding  ATP binding  cytoplasm  plasma membrane  integral component of plasma membrane  regulation of transcription, DNA-templated  protein phosphorylation  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  determination of left/right symmetry  mesoderm development  heart development  response to glucose  post-embryonic development  anterior/posterior pattern specification  activin receptor activity, type II  growth factor binding  signal transduction by phosphorylation  insulin secretion  lung development  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  pancreas development  activation of protein kinase activity  activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  inhibin binding  organ growth  odontogenesis of dentin-containing tooth  positive regulation of osteoblast differentiation  metal ion binding  activin binding  embryonic foregut morphogenesis  skeletal system morphogenesis  palate development  lymphatic endothelial cell differentiation  artery development  venous blood vessel development  retina vasculature development in camera-type eye  
Ontology : EGO-EBIgastrulation with mouth forming second  kidney development  lymphangiogenesis  blood vessel remodeling  protein serine/threonine kinase activity  protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  protein serine/threonine/tyrosine kinase activity  transforming growth factor beta-activated receptor activity  protein binding  ATP binding  cytoplasm  plasma membrane  integral component of plasma membrane  regulation of transcription, DNA-templated  protein phosphorylation  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  determination of left/right symmetry  mesoderm development  heart development  response to glucose  post-embryonic development  anterior/posterior pattern specification  activin receptor activity, type II  growth factor binding  signal transduction by phosphorylation  insulin secretion  lung development  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  pancreas development  activation of protein kinase activity  activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  inhibin binding  organ growth  odontogenesis of dentin-containing tooth  positive regulation of osteoblast differentiation  metal ion binding  activin binding  embryonic foregut morphogenesis  skeletal system morphogenesis  palate development  lymphatic endothelial cell differentiation  artery development  venous blood vessel development  retina vasculature development in camera-type eye  
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway   
Protein Interaction DatabaseACVR2B
DoCM (Curated mutations)ACVR2B
Wikipedia pathwaysACVR2B
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerACVR2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACVR2B
dbVarACVR2B
ClinVarACVR2B
1000_GenomesACVR2B 
Exome Variant ServerACVR2B
SNP (GeneSNP Utah)ACVR2B
SNP : HGBaseACVR2B
Genetic variants : HAPMAPACVR2B
Genomic VariantsACVR2B  ACVR2B [DGVbeta]
Mutations
ICGC Data PortalENSG00000114739 
Somatic Mutations in Cancer : COSMICACVR2B 
CONAN: Copy Number AnalysisACVR2B 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:38495790-38534633
Mutations and Diseases : HGMDACVR2B
OMIM602730    613751   
MedgenACVR2B
NextProtQ13705 [Medical]
GENETestsACVR2B
Disease Genetic AssociationACVR2B
Huge Navigator ACVR2B [HugePedia]  ACVR2B [HugeCancerGEM]
snp3D : Map Gene to Disease93
DGIdb (Drug Gene Interaction db)ACVR2B
General knowledge
Homologs : HomoloGeneACVR2B
Homology/Alignments : Family Browser (UCSC)ACVR2B
Phylogenetic Trees/Animal Genes : TreeFamACVR2B
Chemical/Protein Interactions : CTD93
Chemical/Pharm GKB GenePA24495
Clinical trialACVR2B
Cancer Resource (Charite)ENSG00000114739
Other databases
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
CoreMineACVR2B
GoPubMedACVR2B
iHOPACVR2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:00:43 CET 2014

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