Gene: ACVR1

Alternate names for this Gene: ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI

Gene Summary: 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 include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.1

Description of this Gene: activin A receptor type 1

Type of Gene: protein-coding

rs1057519875 in ACVR1 gene and Brain Stem Glioma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121912678 in ACVR1 gene and Fibrodysplasia Ossificans Progressiva PMID 16642017 2006 We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.

PMID 19330033 2009 FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported.

PMID 19085907 2009 While the recurrent c.617G>A; p.R206H mutation was found in all cases of classic FOP and most cases of FOP-plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP-plus.

PMID 19085907 2009 Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PMID 16642017 2006 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

PMID 19330033 2009 Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

PMID 22977237 2012 Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.

PMID 19330033 2009 We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features.

PMID 19330033 2009 We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features.

rs1057519875 in ACVR1 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs387906589 in ACVR1 gene and Multiple congenital anomalies PMID 26436010 2015 Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review.

PMID 8758048 1996 Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history.

PMID 19085907 2009 Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PMID 16642017 2006 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.