Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	121506
Gene name	Endoplasmic reticulum protein 27
Gene symbol	ERP27
Synonyms (NCBI Gene)	C12orf46PDIA8
Chromosome	12
Chromosome location	12p12.3
Summary	This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention seque

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miRTarBase ID	miRNA	Experiments
MIRT969852	hsa-miR-23a	CLIP-seq
MIRT969853	hsa-miR-23b	CLIP-seq
MIRT969854	hsa-miR-23c	CLIP-seq
MIRT969855	hsa-miR-4717-3p	CLIP-seq
MIRT969856	hsa-miR-5096	CLIP-seq
MIRT969857	hsa-miR-544	CLIP-seq
MIRT969858	hsa-miR-601	CLIP-seq
MIRT2221873	hsa-miR-210	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003756	Function	Protein disulfide isomerase activity	IBA
GO:0005515	Function	Protein binding	IPI	18802093, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006457	Process	Protein folding	IBA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA

MIM	HGNC	e!Ensembl
610642	26495	ENSG00000139055

Q96DN0

Protein name

Endoplasmic reticulum resident protein 27 (ER protein 27) (ERp27) (Inactive protein disulfide-isomerase 27)

Protein function

Specifically binds unfolded proteins and may recruit protein disulfide isomerase PDIA3 to unfolded substrates (PubMed:16940051, PubMed:23192347). Binds protein substrates via a hydrophobic pocket in the C-terminal domain (PubMed:16940051, PubMed

PDB

2L4C , 4F9Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13848	Thioredoxin_6	64 → 251		Domain

Sequence

MEAAPSRFMFLLFLLTCELAAEVAAEVEKSSDGPGAAQEPTWLTDVPAAMEFIAATEVAV
IGFFQDLEIPAVPILHSMVQKFPGVSFGISTDSEVLTHYNITGNTICLFRLVDNEQLNLE
DEDIESIDATKLSRFIEINSLHMVTEYNPVTVIGLFNSVIQIHLLLIMNKASPEYEENMH
RYQKAAKLFQGKILFILVDSGMKENGKVISFFKLKESQLPALAIYQTLDDEWDTLPTAEV
SVEHVQNFCDGFLSGKLLKENRESEGKTPKVEL

Sequence length

273

Interactions

View interactions

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34309201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31706267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ERP27 (endoplasmic reticulum protein 27)