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Gene : ACVR1B Homo sapiens

Name  ? activin A receptor type 1B Cytological Location  12q13.13
Brief Description  activin A receptor type 1B
description  This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
  • synonyms:
  • ACVRLK4,
  • ACTRIB,
  • OTTHUMG00000167920,
  • NM_020328,
  • ALK4,
  • ACVR1B,
  • ActRIB,
  • uc001rzn.4,
  • SKR2,
  • SKR2,
  • ACVRLK4,
  • ALK4,
  • HGNC:172,
  • activin A receptor, type IB
  • identifiers:
  • 91,
  • ENSG00000135503,
  • ACVR1B

Genome feature

Region: gene ? Length: 45413  
Location: 12:51951667-51997079 Cyto location: 12q13.13


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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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

Gene Ontology

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Other

31 SN Ps

5 Cross References

18 Data Sets

17 Homologues

0 Located Features

90 Rna Seq Results