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Protein Coding Gene : Bmpr2 bone morphogenetic protein receptor type 2

Primary Identifier  MGI:1095407 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  12168
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables BMP binding activity and BMP receptor activity. Involved in several processes, including BMP signaling pathway; circulatory system development; and negative regulation of cell proliferation involved in heart valve morphogenesis. Acts upstream of or within several processes, including limb development; maternal placenta development; and mesoderm formation. Located in cell surface and postsynaptic density. Is active in several cellular components, including cell body; clathrin-coated pit; and dendrite. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; embryo ectoderm; and genitourinary system. Used to study primary pulmonary hypertension. Human ortholog(s) of this gene implicated in heart septal defect; primary pulmonary hypertension; pulmonary hypertension; and pulmonary venoocclusive disease 1. Orthologous to human BMPR2 (bone morphogenetic protein receptor type 2).
PHENOTYPE: Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm. [provided by MGI curators]
  • synonyms:
  • expressed sequence AW546137,
  • MGI:2138603,
  • MGI:3034681,
  • RIKEN cDNA 2610024H22 gene,
  • AL117858,
  • MGI:1916460,
  • expressed sequence BB189135,
  • 2610024H22Rik,
  • expressed sequence AL117858,
  • bone morphogenetic protein receptor type 2,
  • AW546137,
  • BMPRII,
  • BMPR-II,
  • BMP-2,
  • MGI:2138646,
  • Bmpr2,
  • BB189135

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For