Gene: PLAG1

Alternate names for this Gene: PSA|SGPA|SRS4|ZNF912

Gene Summary: Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q12.1

Description of this Gene: PLAG1 zinc finger

Type of Gene: protein-coding

Gene: CHCHD7

Alternate names for this Gene: COX23

Gene Summary:

Gene is located in Chromosome: 8

Location in Chromosome : 8q12.1

Description of this Gene: coiled-coil-helix-coiled-coil-helix domain containing 7

Type of Gene: protein-coding

rs72656010 in PLAG1;CHCHD7 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs62515432 in PLAG1;CHCHD7 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72656010 in PLAG1;CHCHD7 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.