Property Summary

NCBI Gene PubMed Count 103
Grant Count 415
R01 Count 106
Funding $152,764,280.68
PubMed Score 253.49
PubTator Score 178.93

Knowledge Summary

Patent (22,078)

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 1.200 0.003
osteosarcoma 3.074 0.000
fascioscapulohumeral muscular dystrophy 1.032 0.001
acute quadriplegic myopathy 1.022 0.000
group 4 medulloblastoma 1.800 0.001
ulcerative colitis 1.500 0.000
ovarian cancer 2.200 0.000

Synonym

Accession Q04771
Symbols FOP
ALK2
SKR1
TSRI
ACTRI
ACVR1A
ACVRLK2

Gene

PDB

3H9R   4C02   3MTF   3OOM   3Q4U   4BGG   4DYM  

  TechDev Info (1)

Gary Johnson Kinome profile via MIB/MS Technology

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (72)

PMID Text
26776312 Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.
26621707 Fibrodysplasia ossificans progressiva-ACVR1 abnormally transduces bone morphogenetic protein signaling in response to Activin-A.
26597752 The higher PE activin A concentrations resulted in abnormal endothelial functions, which may contribute to the systemic maternal vascular endothelial cell dysfunction observed in the disorder.
26133550 Changes in the binding site residue(e.g. pre-hinge region in ALK2) or side chain orientation (e.g. Tyr219 in caALK2 vs. wtALK2), or ligand modification (e.g. DMH1 vs. LDN193189) causes distinct binding profiles and selectivity among BMP inhibitors.
26097044 A report of two patients has been presented with multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva caused by the ACVR1 c.772G>A; R258G mutation.
26058333 Genetic analysis of ACVR1 identified the recurrent allelic variant c.617 G>A; p.R206H in 12 of 14 Fibrodysplasia Ossificans Progressiva (FOP)patients. One of the remaining patients had a previously reported allele c.1067G>A; p.G356D in the 9th exon and the second allele c.983G>A; p.G328E in the 8th exon of ACVR1.
25271001 clinically aggressive stem cell-like subtype of hepatocellular carcinoma characterized by miR-148a-ACVR1-BMP-Wnt circuit
25101911 compounds demonstrated consistent binding to a panel of mutant and wild-type ALK2 proteins
24798338 ALK2 (R206H) mutation increases osteoclast formation through TGF-beta. The activation of activin-like kinase signaling enhanced osteoclast formation through TGF-beta expression during heterotopic ossification in muscle tissues.
24705254 ACVR1 mutations in diffuse intrinsic pontine gliomas were constitutively activating, leading to SMAD phosphorylation and increased expression of the downstream activin signaling targets ID1 and ID2.
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AA Sequence

MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGC      1 - 70
FQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLAC     71 - 140
LLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITL    141 - 210
LECVGKGRYGEVWRGSWQGENVAVKIFSSRDEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLW    211 - 280
LITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQC    281 - 350
CIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVS    351 - 420
NGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQNPSARLTALR    421 - 490
IKKTLTKIDNSLDKLKTDC                                                       491 - 509
//

Text Mined References (106)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26776312 2016 Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.
26621707 2015 Neofunction of ACVR1 in fibrodysplasia ossificans progressiva.
26597752 2015 Effects of normal and high circulating concentrations of activin A on vascular endothelial cell functions and vasoactive factor production.
26133550 2015 Uncovering Molecular Bases Underlying Bone Morphogenetic Protein Receptor Inhibitor Selectivity.
26097044 2015 Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
26058333 2015 Classical and atypical Fibrodysplasia Ossificans Progressiva in India.
25271001 2015 Regulatory MiR-148a-ACVR1/BMP circuit defines a cancer stem cell-like aggressive subtype of hepatocellular carcinoma.
25101911 2014 Structure-activity relationship of 3,5-diaryl-2-aminopyridine ALK2 inhibitors reveals unaltered binding affinity for fibrodysplasia ossificans progressiva causing mutants.
24798338 2014 Fibrodysplasia ossificans progressiva-related activated activin-like kinase signaling enhances osteoclast formation during heterotopic ossification in muscle tissues.
More...