Gene: GGA3

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: golgi associated, gamma adaptin ear containing, ARF binding protein 3

Type of Gene: protein-coding

Gene: NUP85

Alternate names for this Gene: FROUNT|NPHS17|Nup75

Gene Summary: This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: nucleoporin 85

Type of Gene: protein-coding

rs1321552081 in GGA3;NUP85 gene and NEPHROTIC SYNDROME, TYPE 17 PMID 30179222 2018 Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

rs9988 in GGA3;NUP85 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.