Gene: FKBPL

Alternate names for this Gene: DIR1|FKBP4|NG7|WISP39

Gene Summary: The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: FKBP prolyl isomerase like

Type of Gene: protein-coding

Gene: ATF6B

Alternate names for this Gene: CREB-RP|CREBL1|G13

Gene Summary: The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: activating transcription factor 6 beta

Type of Gene: protein-coding

rs3830076 in FKBPL;ATF6B gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs3130288 in FKBPL;ATF6B gene and Sarcoidosis PMID 26651848 2016 High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.