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Protein Coding Gene : Pcdh19 protocadherin 19

Primary Identifier  MGI:2685563 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  279653
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in plasma membrane. Is expressed in several structures, including alimentary system; embryo mesenchyme; future brain; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19).
PHENOTYPE: Female mice heterozygous for a null mutation display abnormal electrocorticograms and distinct clusters of null and wild-type cells in the brain. [provided by MGI curators]
  • synonyms:
  • LOC279653,
  • protocadherin 19,
  • gene model 717, (NCBI),
  • mKIAA1313,
  • B530002L05Rik,
  • Gm717,
  • Pcdh19,
  • RIKEN cDNA B530002L05 gene

Features --> Cross References

Genome

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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

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

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Genes/Features --> Phenotypes (MP terms)

Disease

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