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

Gene: TNXB

Alternate names for this Gene: EDS3|EDSCLL|EDSCLL1|HXBL|TENX|TN-X|TNX|TNXB1|TNXB2|TNXBS|VUR8|XB|XBS

Gene Summary: This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33-p21.32

Description of this Gene: tenascin XB

Type of Gene: protein-coding

rs8283 in ATF6B;TNXB gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs8283 in ATF6B;TNXB gene and AIDS, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs8111 in ATF6B;TNXB gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs8283 in ATF6B;TNXB gene and C4 complement assay (procedure) PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs8283 in ATF6B;TNXB gene and HIV-1, RESISTANCE TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs8283 in ATF6B;TNXB gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs8111 in ATF6B;TNXB gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

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

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs8111 in ATF6B;TNXB gene and Takayasu Arteritis PMID 25604533 2015 Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study.