Gene Gene information from NCBI Gene database.
Entrez ID 9601
Gene name Protein disulfide isomerase family A member 4
Gene symbol PDIA4
Synonyms (NCBI Gene)
ERP70ERP72ERp-72
Chromosome 7
Chromosome location 7q36.1
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.
215
miRTarBase ID miRNA Experiments Reference
MIRT018114 hsa-miR-335-5p Microarray 18185580
MIRT049739 hsa-miR-92a-3p CLASH 23622248
MIRT036839 hsa-miR-877-3p CLASH 23622248
MIRT440013 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440013 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003756 Function Protein disulfide isomerase activity IBA
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0003756 Function Protein disulfide isomerase activity ISS
GO:0005515 Function Protein binding IPI 16287128, 22190034, 22665516, 23956175, 28514442, 30021884, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620018 30167 ENSG00000155660
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13667
Protein name Protein disulfide-isomerase A4 (EC 5.3.4.1) (Endoplasmic reticulum resident protein 70) (ER protein 70) (ERp70) (Endoplasmic reticulum resident protein 72) (ER protein 72) (ERp-72) (ERp72)
PDB 3IDV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 63 166 Thioredoxin Domain
PF00085 Thioredoxin 178 281 Thioredoxin Domain
PF13848 Thioredoxin_6 312 504 Domain
PF00085 Thioredoxin 526 633 Thioredoxin Domain
Sequence
Sequence length 645
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Protein processing in endoplasmic reticulum
Thyroid hormone synthesis
Vibrio cholerae infection
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 24464223
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 36082822
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 24464223
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 37432996
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 36404389
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 35634436
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Associate 21743296
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 36814929
★☆☆☆☆
Found in Text Mining only
Glioma Associate 32023222
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Stimulate 22028783
★☆☆☆☆
Found in Text Mining only