Gene: PCDH7

Alternate names for this Gene: BH-Pcdh|BHPCDH|PPP1R120

Gene Summary: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails.

Gene is located in Chromosome: 4

Location in Chromosome : 4p15.1

Description of this Gene: protocadherin 7

Type of Gene: protein-coding

rs41530644 in PCDH7 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs4527444 in PCDH7 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1044352 in PCDH7 gene and Epilepsy, Generalized PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

PMID 25087078 2014 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.

rs3733655 in PCDH7 gene and Ischemic stroke PMID 26674333 2016 Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.

rs41530644 in PCDH7 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs9291547 in PCDH7 gene and Schizophrenia PMID 29503163 2018 Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study.