Gene Gene information from NCBI Gene database.
Entrez ID 10954
Gene name Protein disulfide isomerase family A member 5
Gene symbol PDIA5
Synonyms (NCBI Gene)
PDIR
Chromosome 3
Chromosome location 3q21.1
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 an N-terminal ER-signal sequence, three catalyticall
miRNA miRNA information provided by mirtarbase database.
28
miRTarBase ID miRNA Experiments Reference
MIRT029455 hsa-miR-26b-5p Microarray 19088304
MIRT471452 hsa-miR-216a-3p PAR-CLIP 23592263
MIRT471451 hsa-miR-3681-3p PAR-CLIP 23592263
MIRT471450 hsa-miR-128-3p PAR-CLIP 23592263
MIRT471449 hsa-miR-27a-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IBA
GO:0003756 Function Protein disulfide isomerase activity IDA 14627699
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0003756 Function Protein disulfide isomerase activity TAS 7556671
GO:0005515 Function Protein binding IPI 25416956, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616942 24811 ENSG00000065485
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14554
Protein name Protein disulfide-isomerase A5 (EC 5.3.4.1) (Protein disulfide isomerase-related protein)
PDB 4I6X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 153 258 Thioredoxin Domain
PF00085 Thioredoxin 277 381 Thioredoxin Domain
PF00085 Thioredoxin 398 503 Thioredoxin Domain
Sequence
Sequence length 519
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    XBP1(S) activates chaperone genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 25118708
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 28487959 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 36445533 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 28487959
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma BEFREE 25118708
★☆☆☆☆
Found in Text Mining only
Glaucoma Open Angle Open angle glaucoma Pubtator 21655191 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma, Primary Open Angle Glaucoma BEFREE 25118708
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 32023222 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 33664747 Stimulate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 28487959
★☆☆☆☆
Found in Text Mining only