Gene: PLD4

Alternate names for this Gene: C14orf175

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.33

Description of this Gene: phospholipase D family member 4

Type of Gene: protein-coding

Gene: AHNAK2

Alternate names for this Gene: C14orf78

Gene Summary: This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.33

Description of this Gene: AHNAK nucleoprotein 2

Type of Gene: protein-coding

rs1048257 in PLD4;AHNAK2 gene and Lupus Erythematosus, Systemic PMID 26663301 2016 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.