Gene: ZNF513

Alternate names for this Gene: HMFT0656|RP58|Zfp513

Gene Summary: The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: zinc finger protein 513

Type of Gene: protein-coding

Gene: PPM1G

Alternate names for this Gene: PP2CG|PP2CGAMMA|PPP2CG

Gene Summary: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: protein phosphatase, Mg2+/Mn2+ dependent 1G

Type of Gene: protein-coding

rs4582 in ZNF513;PPM1G gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs4582 in ZNF513;PPM1G gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.