Gene: ERAP2

Alternate names for this Gene: L-RAP|LRAP

Gene Summary: This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5.

Gene is located in Chromosome: 5

Location in Chromosome : 5q15

Description of this Gene: endoplasmic reticulum aminopeptidase 2

Type of Gene: protein-coding

Gene: ERAP1

Alternate names for this Gene: A-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|PILS-AP|PILSAP

Gene Summary: The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q15

Description of this Gene: endoplasmic reticulum aminopeptidase 1

Type of Gene: protein-coding

rs4869313 in ERAP2;ERAP1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs4869313 in ERAP2;ERAP1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs4869313 in ERAP2;ERAP1 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs2910686 in ERAP2;ERAP1 gene and Ankylosing spondylitis PMID 23749187 2013 Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs4869313 in ERAP2;ERAP1 gene and Autoimmune Diseases PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs4869313 in ERAP2;ERAP1 gene and Autoimmune thyroiditis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs11455840 in ERAP2;ERAP1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs4869313 in ERAP2;ERAP1 gene and Celiac Disease PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs2910686 in ERAP2;ERAP1 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs4869313 in ERAP2;ERAP1 gene and Common Variable Immunodeficiency PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1363907 in ERAP2;ERAP1 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs4869313 in ERAP2;ERAP1 gene and Diabetes Mellitus, Insulin-Dependent PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1363907 in ERAP2;ERAP1 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs4869313 in ERAP2;ERAP1 gene and Juvenile arthritis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs4869313 in ERAP2;ERAP1 gene and Lupus Erythematosus, Systemic PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs2910686 in ERAP2;ERAP1 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs2910686 in ERAP2;ERAP1 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.