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Aliases for PDIA4 Gene

Aliases for PDIA4 Gene

  • Protein Disulfide Isomerase Family A Member 4 2 3 5
  • Endoplasmic Reticulum Resident Protein 70 3 4
  • Endoplasmic Reticulum Resident Protein 72 3 4
  • Protein Disulfide Isomerase-Associated 4 2 3
  • ER Protein 70 3 4
  • ER Protein 72 3 4
  • EC 4 56
  • ERp-72 3 4
  • ERP70 3 4
  • ERP72 3 4
  • Protein Disulfide Isomerase Related Protein (Calcium-Binding Protein, Intestinal-Related) 3
  • Protein Disulfide Isomerase Family A, Member 4 2
  • Testicular Tissue Protein Li 137 3
  • Protein Disulfide-Isomerase A4 3

External Ids for PDIA4 Gene

Previous GeneCards Identifiers for PDIA4 Gene

  • GC07M148138
  • GC07M148331
  • GC07M148700
  • GC07M142778

Summaries for PDIA4 Gene

Entrez Gene Summary for PDIA4 Gene

  • 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 catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]

GeneCards Summary for PDIA4 Gene

PDIA4 (Protein Disulfide Isomerase Family A Member 4) is a Protein Coding gene. Diseases associated with PDIA4 include Multiple Epiphyseal Dysplasia. Among its related pathways are Protein processing in endoplasmic reticulum and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include isomerase activity. An important paralog of this gene is PDIA3.

Additional gene information for PDIA4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDIA4 Gene

Genomics for PDIA4 Gene

GeneHancer (GH) Regulatory Elements for PDIA4 Gene

Promoters and enhancers for PDIA4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I149026 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 565.6 +0.5 485 3.6 HDGF FOXA2 PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 PDIA4 ZNF398 ZNF282 ENSG00000271664 ZNF212 ZNF783 CUL1 LOC155060 GHET1
GH07I148986 Promoter/Enhancer 1.6 Ensembl ENCODE 27 +41.6 41550 2.6 PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 ZNF766 ZNF213 E2F8 ZNF143 GC07M148988 GHET1 RNY1 LOC155060 ZNF783 ZNF777 ZNF767P ZNF398 PDIA4 ENSG00000271664
GH07I148982 Promoter/Enhancer 1.5 Ensembl ENCODE 17.7 +45.2 45192 2 PKNOX1 FOXA2 ARNT ARID4B FEZF1 ZNF2 IRF4 ZNF213 E2F8 ZNF143 GC07P149011 GC07P149013 RNY3 ZNF783 ENSG00000271664 ZNF777 ZNF212 ZNF398 ZNF282 ZNF767P
GH07I149064 Enhancer 1.3 Ensembl ENCODE 13 -36.9 -36853 2.1 HDGF SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF398 ZNF212 ZNF425 ZNF786 ZNF783 ZNF746 ZNF282 ENSG00000271664 RNU6-650P PDIA4
GH07I148962 Promoter/Enhancer 1.5 Ensembl ENCODE 11.2 +65.1 65092 2.6 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 GC07P148964 RNY4 ZNF777 ZNF786 LOC155060 ZNF783 ZNF767P EZH2 PDIA4 ENSG00000271664
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDIA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDIA4 gene promoter:

Genomic Locations for PDIA4 Gene

Genomic Locations for PDIA4 Gene
25,640 bases
Minus strand

Genomic View for PDIA4 Gene

Genes around PDIA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDIA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDIA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDIA4 Gene

Proteins for PDIA4 Gene

  • Protein details for PDIA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein disulfide-isomerase A4
    Protein Accession:
    Secondary Accessions:
    • A8K4K6
    • Q549T6

    Protein attributes for PDIA4 Gene

    645 amino acids
    Molecular mass:
    72932 Da
    Quaternary structure:
    • Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX.

    Three dimensional structures from OCA and Proteopedia for PDIA4 Gene

neXtProt entry for PDIA4 Gene

Selected DME Specific Peptides for PDIA4 Gene


Post-translational modifications for PDIA4 Gene

  • Ubiquitination at Lys103, isoforms=141, isoforms=256, Lys294, and isoforms=391
  • Glycosylation at isoforms=503
  • Modification sites at PhosphoSitePlus

Other Protein References for PDIA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PDIA4 Gene

Gene Families for PDIA4 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PDIA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein disulfide isomerase family.
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with PDIA4: view

Function for PDIA4 Gene

Molecular function for PDIA4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Catalyzes the rearrangement of -S-S- bonds in proteins.

Enzyme Numbers (IUBMB) for PDIA4 Gene

Phenotypes From GWAS Catalog for PDIA4 Gene

Gene Ontology (GO) - Molecular Function for PDIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003756 protein disulfide isomerase activity ISS,IBA --
GO:0005515 protein binding IPI 22190034
GO:0015037 peptide disulfide oxidoreductase activity IDA 16677074
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PDIA4: view
genes like me logo Genes that share phenotypes with PDIA4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PDIA4

miRNA for PDIA4 Gene

Clone Products

  • Addgene plasmids for PDIA4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDIA4 Gene

Localization for PDIA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDIA4 Gene

Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000269 PubMed:17081065}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDIA4 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 19995400
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IBA --
GO:0005788 endoplasmic reticulum lumen IEA,TAS --
GO:0009986 cell surface IDA 19995400
genes like me logo Genes that share ontologies with PDIA4: view

Pathways & Interactions for PDIA4 Gene

genes like me logo Genes that share pathways with PDIA4: view

Pathways by source for PDIA4 Gene

1 Cell Signaling Technology pathway for PDIA4 Gene

Gene Ontology (GO) - Biological Process for PDIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IBA --
GO:0009306 protein secretion TAS 2295602
GO:0034976 response to endoplasmic reticulum stress IBA --
GO:0045454 cell redox homeostasis IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PDIA4: view

No data available for SIGNOR curated interactions for PDIA4 Gene

Drugs & Compounds for PDIA4 Gene

(5) Drugs for PDIA4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PDIA4: view

Transcripts for PDIA4 Gene

Unigene Clusters for PDIA4 Gene

Protein disulfide isomerase family A, member 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for PDIA4

Alternative Splicing Database (ASD) splice patterns (SP) for PDIA4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b
SP1: -
SP2: -
SP3: - -
SP4: -
SP5: -

Relevant External Links for PDIA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDIA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDIA4 Gene

mRNA differential expression in normal tissues according to GTEx for PDIA4 Gene

This gene is overexpressed in Liver (x7.2).

Protein differential expression in normal tissues from HIPED for PDIA4 Gene

This gene is overexpressed in Lymph node (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDIA4 Gene

Protein tissue co-expression partners for PDIA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDIA4 Gene:


SOURCE GeneReport for Unigene cluster for PDIA4 Gene:


Evidence on tissue expression from TISSUES for PDIA4 Gene

  • Liver(4.7)
  • Lung(4.7)
  • Muscle(4.2)
  • Intestine(3.6)
  • Nervous system(3.6)
  • Pancreas(3.1)
  • Heart(2.9)
  • Thyroid gland(2.9)
  • Blood(2.5)
  • Kidney(2.4)
  • Adrenal gland(2.1)
  • Eye(2.1)
  • Gall bladder(2.1)
  • Stomach(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with PDIA4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDIA4 Gene

Orthologs for PDIA4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDIA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDIA4 33 34
  • 99.28 (n)
(Bos Taurus)
Mammalia ERP70 34
  • 87 (a)
PDIA4 33
  • 86.31 (n)
(Mus musculus)
Mammalia Pdia4 33 16 34
  • 86.27 (n)
(Rattus norvegicus)
Mammalia Pdia4 33
  • 85.38 (n)
(Canis familiaris)
Mammalia PDIA4 33 34
  • 85.1 (n)
(Ornithorhynchus anatinus)
Mammalia PDIA4 34
  • 84 (a)
(Monodelphis domestica)
Mammalia PDIA4 34
  • 79 (a)
(Gallus gallus)
Aves PDIA4 33 34
  • 75.06 (n)
(Anolis carolinensis)
Reptilia PDIA4 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pdia4 33
  • 69.87 (n)
Str.16310 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5570 33
(Danio rerio)
Actinopterygii pdia4 33 34
  • 70.55 (n)
wufd20c07 33
(Caenorhabditis elegans)
Secernentea C14B9.2 33 34
  • 54.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 34 36
  • 29 (a)
EUG1 34
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PDIL1-2 33
  • 49.92 (n)
(Oryza sativa)
Liliopsida Os11g0199200 33
  • 51.84 (n)
Os.10985 33
(Hordeum vulgare)
Liliopsida Hv.3992 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.373 34
  • 57 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4873 33
Species where no ortholog for PDIA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDIA4 Gene

Gene Tree for PDIA4 (if available)
Gene Tree for PDIA4 (if available)

Paralogs for PDIA4 Gene

Paralogs for PDIA4 Gene

(2) SIMAP similar genes for PDIA4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PDIA4: view

Variants for PDIA4 Gene

Sequence variations from dbSNP and Humsavar for PDIA4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000006156 -- 149,003,284(-) G/A 3_prime_UTR_variant
rs1000050881 -- 149,006,629(-) C/T intron_variant
rs1000064292 -- 149,006,712(-) G/A intron_variant
rs1000416255 -- 149,017,509(-) G/A intron_variant
rs1000468470 -- 149,017,647(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PDIA4 Gene

Variant ID Type Subtype PubMed ID
nsv1137304 CNV deletion 24896259
nsv1142504 CNV tandem duplication 24896259
nsv528358 CNV loss 19592680
nsv608973 CNV loss 21841781

Variation tolerance for PDIA4 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDIA4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDIA4 Gene

Disorders for PDIA4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDIA4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
multiple epiphyseal dysplasia
  • polyepiphyseal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search PDIA4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDIA4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDIA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDIA4 Gene

Publications for PDIA4 Gene

  1. Human deoxycytidine kinase. Sequence of cDNA clones and analysis of expression in cell lines with and without enzyme activity. (PMID: 2002068) Huang SH … Holcenberg J (The Journal of biological chemistry 1991) 2 3 4 58
  2. Human deoxycytidine kinase. Sequence of cDNA clones and analysis of expression in cell lines with and without enzyme activity. (PMID: 2549034) Huang SH … Holcenberg J (The Journal of biological chemistry 1989) 2 3 4 58
  3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 44 58
  4. A possible biochemical link between NADPH oxidase (Nox) 1 redox-signalling and ERp72. (PMID: 18620548) Chen W … Kamata T (The Biochemical journal 2008) 3 22 58
  5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4 58

Products for PDIA4 Gene

  • Addgene plasmids for PDIA4

Sources for PDIA4 Gene

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