Gene: PCLO

Alternate names for this Gene: ACZ|PCH3

Gene Summary: The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.11

Description of this Gene: piccolo presynaptic cytomatrix protein

Type of Gene: protein-coding

rs2247523 in PCLO gene and Major Depressive Disorder PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

PMID 19065144 2009 Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo.

PMID 21621269 2011 Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.

PMID 28540843 2017 In an analysis comparing 1,942 cases with lifetime diagnosis of MDD and 4,565 controls, PCLO showed a genome-wide significant association with MDD at SNP (rs2715157, p = 2.91 × 10-8) and gene-based (p = 1.48 × 10-7) level.

rs10954695 in PCLO gene and Schizoaffective disorder, bipolar type PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs2107828 in PCLO gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.