Gene: ERC2

Alternate names for this Gene: CAST|CAST1|ELKSL|SPBC110|Spc110

Gene Summary: This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p14.3

Description of this Gene: ELKS/RAB6-interacting/CAST family member 2

Type of Gene: protein-coding

rs12634374 in ERC2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12488237 in ERC2 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs11708779 in ERC2 gene and Circadian Rhythms PMID 26955885 2016 Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank.

rs112230981 in ERC2 gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs7635184 in ERC2 gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs4955883 in ERC2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73075135 in ERC2 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.