Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23071
Gene name Gene Name - the full gene name approved by the HGNC.
Endoplasmic reticulum protein 44
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERP44
Synonyms (NCBI Gene) Gene synonyms aliases
PDIA10, TXNDC4
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
PPARG Activation 20484463
PPARG Repression 20484463
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IDA 11847130
GO:0005515 Function Protein binding IPI 17805346, 32814053
GO:0005576 Component Extracellular region TAS
GO:0005788 Component Endoplasmic reticulum lumen IDA 11847130
GO:0005789 Component Endoplasmic reticulum membrane IDA 11847130
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609170 18311 ENSG00000023318
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881
Unknown
Disease term Disease name Evidence References Source
Preeclampsia Preeclampsia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Diabetes Gestational Associate 25512553, 35689735
Insulin Resistance Associate 25512553
Lung Neoplasms Inhibit 27347718
Multiple Sulfatase Deficiency Disease Associate 18508857
Tuberculosis Associate 22239941
Tuberculosis Pulmonary Associate 22239941