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Protein Coding Gene : Ccm2 cerebral cavernous malformation 2

Primary Identifier  MGI:2384924 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  216527
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Acts upstream of or within several processes, including circulatory system development; endothelial cell development; and in utero embryonic development. Part of protein-containing complex. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; gonad; and retina layer. Used to study cerebral cavernous malformation 2. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein).
PHENOTYPE: Homozygous null mice die during embryonic development with vasculature defects in the heart and placenta. [provided by MGI curators]
  • synonyms:
  • MGC:37115,
  • BC029157,
  • cDNA sequence BC029157,
  • Ccm2,
  • cerebral cavernous malformation 2

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 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

0 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