Gene: PDILT

Alternate names for this Gene: PDIA7

Gene Summary: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.3

Description of this Gene: protein disulfide isomerase like, testis expressed

Type of Gene: protein-coding

rs9652589 in PDILT gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12921916 in PDILT gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4780885 in PDILT gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs77924615 in PDILT gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs77924615 in PDILT gene and Creatinine measurement, serum (procedure) PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs11864909 in PDILT gene and Diabetes PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

rs11864909 in PDILT gene and Diabetes Mellitus PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

rs11864909 in PDILT gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

rs11864909 in PDILT gene and Glomerular Filtration Rate PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 27588450 2016 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs77924615 in PDILT gene and Kidney Failure, Chronic PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs77924615 in PDILT gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs77924615 in PDILT gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs35747824 in PDILT gene and Urolithiasis PMID 30975718 2019 Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.