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: SNX17

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: sorting nexin 17

Type of Gene: protein-coding

rs13472 in ZNF513;SNX17 gene and Arthritis, Gouty PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs13472 in ZNF513;SNX17 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs13472 in ZNF513;SNX17 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.