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Gene : ACVR1 Homo sapiens

Name  ? activin A receptor type 1 Cytological Location  2q24.1
Brief Description  activin A receptor type 1
Description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ALK2,
  • ACVRLK2,
  • activin A receptor, type I,
  • ACVR1A,
  • NM_001105,
  • FOP,
  • SKR1,
  • OTTHUMG00000131967,
  • ACVR1A,
  • uc010fog.3,
  • ACVRLK2,
  • ACVR1,
  • ALK2,
  • SKR1,
  • ACTRI,
  • HGNC:171,
  • TSRI
  • identifiers:
  • 90,
  • ENSG00000115170,
  • ACVR1

Genome feature

Region: gene ? Length: 139885  
Location: 2:157736446-157876330 reverse strand Cyto location: 2q24.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

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Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

62 SNPs

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results