Gene Gene information from NCBI Gene database.
Entrez ID 23071
Gene name Endoplasmic reticulum protein 44
Gene symbol ERP44
Synonyms (NCBI Gene)
PDIA10TXNDC4
Chromosome 9
Chromosome location 9q31.1
Summary This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-rete
miRNA miRNA information provided by mirtarbase database.
316
miRTarBase ID miRNA Experiments Reference
MIRT019815 hsa-miR-375 Microarray 20215506
MIRT049949 hsa-miR-30a-5p CLASH 23622248
MIRT719615 hsa-miR-548p HITS-CLIP 19536157
MIRT719614 hsa-miR-519d-5p HITS-CLIP 19536157
MIRT719613 hsa-miR-5695 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
PPARG Activation 20484463
PPARG Repression 20484463
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IBA
GO:0003756 Function Protein disulfide isomerase activity IDA 11847130
GO:0005515 Function Protein binding IPI 17805346, 29858230, 32814053
GO:0005576 Component Extracellular region TAS
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609170 18311 ENSG00000023318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BS26
Protein name Endoplasmic reticulum resident protein 44 (ER protein 44) (ERp44) (Thioredoxin domain-containing protein 4)
Protein function Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif (PubMed:11847130, PubMed:14517240). Inhibits the calcium channel activity of ITPR1 (PubMed:15652
PDB 2R2J , 5GU6 , 5GU7 , 5HQP , 5XWM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 30 138 Thioredoxin Domain
PF13848 Thioredoxin_6 167 350 Domain
Sequence
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
CYSTIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS CTD
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27347718
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27347718
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 25512553, 35689735 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 28945274, 30224065, 31283909
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 30224065
★☆☆☆☆
Found in Text Mining only
Fatty Liver Disease Fatty Liver BEFREE 28968997
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 25512553 Associate
★☆☆☆☆
Found in Text Mining only
insulinoma Insulinoma BEFREE 29507125
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 27347718 Inhibit
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 27347718
★☆☆☆☆
Found in Text Mining only