PDILT (protein disulfide isomerase like, testis expressed)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
204474
Gene name Gene Name - the full gene name approved by the HGNC.
Protein disulfide isomerase like, testis expressed
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDILT
Synonyms (NCBI Gene) Gene synonyms aliases
PDIA7
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 thioredoxi
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0006457 Process Protein folding IBA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618588 27338 ENSG00000169340
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N807
Protein name Protein disulfide-isomerase-like protein of the testis
Protein function Probable redox-inactive chaperone involved in spermatogenesis.
PDB 4NWY , 5XF7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 44 → 150 Thioredoxin Domain
PF13848 Thioredoxin_6 180 → 364 Domain
PF00085 Thioredoxin 388 → 491 Thioredoxin Domain
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:15475357, ECO:0000269|PubMed:17507649}.
Sequence
Sequence length 584
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes, Glomerular filtration rate in type 2 diabetes N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Kidney Disease Chronic kidney disease N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune polyendocrinopathy syndrome type 1 Associate 26830021
Nephritis Associate 28954491
Nephrolithiasis Calcium Oxalate Associate 35741705
Renal Insufficiency Chronic Associate 28954491, 34828293