Gene: CRACR2B

Alternate names for this Gene: EFCAB4A

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: calcium release activated channel regulator 2B

Type of Gene: protein-coding

Gene: PNPLA2

Alternate names for this Gene: 1110001C14Rik|ATGL|FP17548|PEDF-R|TTS-2.2|TTS2|iPLA2zeta

Gene Summary: This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: patatin like phospholipase domain containing 2

Type of Gene: protein-coding

rs1138714 in CRACR2B;PNPLA2 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs869320738 in CRACR2B;PNPLA2 gene and Neutral Lipid Storage Disease with Myopathy PMID 28499397 2017 Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

PMID 22832386 2012 Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

rs140201358 in CRACR2B;PNPLA2 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.