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activin receptor type-2B; activin receptor type IIB; ACTR-IIB (ACVR2B)
Function:
- on ligand binding, forms a receptor complex consisting of two type 2 & two type 1 transmembrane Ser/Thr kinases
- type 2 receptors phosphorylate & activate type 1 receptors which autophosphorylate, then bind & activate SMAD (SMAD2 & SMAD3 transcriptional regulators
- receptor for activin A, activin B & inhibin A
- interacts with myostatin [3]
Cofactor: Mg+2 or Mn+2 (putative)
Structure:
- belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
- contains 1 protein kinase domain
Compartment: membrane
Alternative splicing: named isoforms=2
Pathology:
- defects in ACVR2B are a cause of left-right axis malformations
General
activin receptor
glycoprotein
serine/threonine kinase
Properties
SIZE: entity length = 512 aa
MW = 58 kD
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: signal sequence {1-18}
cysteine residue {C29}
MODIFICATION: cysteine residue {C59}
N-glycosylation site {N42}
cysteine residue {C49}
MODIFICATION: cysteine residue {C77}
cysteine residue {C59}
MODIFICATION: cysteine residue {C29}
N-glycosylation site {N65}
cysteine residue {C77}
MODIFICATION: cysteine residue {C49}
cysteine residue {C84}
MODIFICATION: cysteine residue {C103}
cysteine residue {C90}
MODIFICATION: cysteine residue {C102}
cysteine residue {C102}
MODIFICATION: cysteine residue {C90}
cysteine residue {C103}
MODIFICATION: cysteine residue {C84}
cysteine residue {C104}
MODIFICATION: cysteine residue {C109}
cysteine residue {C109}
MODIFICATION: cysteine residue {C104}
transmembrane domain {138-158}
kinase domain
SITE: 190-480
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 196-204
ATP-binding site
NAME: ATP-binding site
SITE: 217-217
aspartate residue {D321}
Database Correlations
OMIM 602730
UniProt Q13705
PFAM correlations
Entrez Gene 93
Kegg hsa:93
ENZYME 2.7.11.30
References
- UniProt :accession Q13705
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACVR2B
- Joulia-Ekaza D, Cabello G.
The myostatin gene: physiology and pharmacological relevance.
Curr Opin Pharmacol. 2007 Jun;7(3):310-5.
Epub 2007 Mar 19. Review.
PMID: 17374508