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ERN2 Gene(Protein Coding)

Endoplasmic Reticulum To Nucleus Signaling 2

GCID:
GC16M023690
GIFtS:
44
Genes Participants
UDN Logo

Aliases for ERN2 Gene

Aliases for ERN2 Gene

  • Endoplasmic Reticulum To Nucleus Signaling 2 2 3 5
  • Inositol-Requiring Protein 2 3 4
  • ER To Nucleus Signalling 2 2 3
  • IRE1-BETA 3 4
  • HIRE2p 3 4
  • IRE1b 3 4
  • Serine/Threonine-Protein Kinase/Endoribonuclease IRE2 3
  • Endoplasmic Reticulum To Nucleus Signalling 2 3
  • Endoplasmic Reticulum-To-Nucleus Signaling 2 4
  • IRE1, S. Cerevisiae, Homolog Of 3
  • Inositol-Requiring 1 Beta 3
  • IRE1 Beta 3
  • EC 2.7.11 56
  • IRE2p 3
  • IRE2 4

External Ids for ERN2 Gene

Previous GeneCards Identifiers for ERN2 Gene

  • GC16M023110
  • GC16M023789
  • GC16M023617
  • GC16M023668
  • GC16M023684
  • GC16M023609
  • GC16U900517
  • GC16M023701
  • GC16M021791

Summaries for ERN2 Gene

GeneCards Summary for ERN2 Gene

ERN2 (Endoplasmic Reticulum To Nucleus Signaling 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ERN1.

UniProtKB/Swiss-Prot for ERN2 Gene

  • Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins.

Additional gene information for ERN2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERN2 Gene

Genomics for ERN2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ERN2 Gene

Promoters and enhancers for ERN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I023711 Enhancer 0.6 ENCODE 550.8 +1.0 998 1.8 SMARCE1 BCOR NFIB GATAD2B DPF2 KLF4 ZBTB7B FOXA1 ZNF217 CTBP1 ENSG00000261583 ERN2
GH16I023676 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.7 +34.9 34890 3.8 PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B PIR39200 PLK1 DCTN5 ENSG00000260751 PALB2 ERN2 ENSG00000261723 NDUFAB1 RBBP6 SCNN1B
GH16I023690 Enhancer 0.5 ENCODE 11.9 +22.1 22104 1.3 SCRT1 POLR2A KLF9 MAFK ZKSCAN1 DCTN5 ERN2 PALB2 ENSG00000261266 GC16M023689
GH16I023682 Enhancer 0.2 FANTOM5 11.5 +31.0 30961 0 ERN2 DCTN5 PALB2 NDUFAB1 CHP2 PLK1 ENSG00000261266
GH16I023694 Promoter/Enhancer 1.3 Ensembl ENCODE 0.4 +18.6 18596 1 TFAP4 SAP130 ZFP64 MAX ARID4B KLF17 ZNF76 SIN3A ZNF2 ZNF48 GC16M023689 NDUFAB1 ENSG00000278912 ERN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERN2 gene promoter:

Genomic Locations for ERN2 Gene

Genomic Locations for ERN2 Gene
chr16:23,690,304-23,713,500
(GRCh38/hg38)
Size:
23,197 bases
Orientation:
Minus strand
chr16:23,701,625-23,724,821
(GRCh37/hg19)

Genomic View for ERN2 Gene

Genes around ERN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ERN2 Gene

Proteins for ERN2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ERN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q76MJ5-ERN2_HUMAN
    Recommended name:
    Serine/threonine-protein kinase/endoribonuclease IRE2
    Protein Accession:
    Q76MJ5
    Secondary Accessions:
    • Q6ZNC0

    Protein attributes for ERN2 Gene

    Size:
    926 amino acids
    Molecular mass:
    102480 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD18455.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ERN2 Gene

Protein Expression for ERN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ERN2 Gene

Q76MJ5:
  • HRDLKPGN
  • VHRDLKP
  • IVHRDLK

Post-translational modifications for ERN2 Gene

Other Protein References for ERN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ERN2 Gene

Gene Families for ERN2 Gene

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

Protein Domains for ERN2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ERN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q76MJ5

UniProtKB/Swiss-Prot:

ERN2_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with ERN2: view

Function for ERN2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ERN2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
The kinase domain is activated by trans-autophosphorylation. Kinase activity is required for activation of the endoribonuclease domain (By similarity).
UniProtKB/Swiss-Prot Function:
Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins.

Enzyme Numbers (IUBMB) for ERN2 Gene

Phenotypes From GWAS Catalog for ERN2 Gene

Gene Ontology (GO) - Molecular Function for ERN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 11175748
GO:0003824 catalytic activity IEA --
GO:0004519 endonuclease activity IDA 11175748
GO:0004540 ribonuclease activity IEA --
GO:0004672 protein kinase activity IEA --
genes like me logo Genes that share ontologies with ERN2: view
genes like me logo Genes that share phenotypes with ERN2: view

Animal Models for ERN2 Gene

MGI Knock Outs for ERN2:

Animal Model Products

CRISPR Products

miRNA for ERN2 Gene

miRTarBase miRNAs that target ERN2

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ERN2 Gene

Localization for ERN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERN2 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
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 ERN2 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ERN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:1990604 IRE1-TRAF2-ASK1 complex ISS,IEA --
genes like me logo Genes that share ontologies with ERN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERN2 Gene

Pathways & Interactions for ERN2 Gene

SuperPathways for ERN2 Gene

PathCards logo More details on SuperPathways for ERN2
No Data Available

Gene Ontology (GO) - Biological Process for ERN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing IEA --
GO:0006468 protein phosphorylation IDA 11175748
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with ERN2: view

No data available for Pathways by source and SIGNOR curated interactions for ERN2 Gene

Drugs & Compounds for ERN2 Gene

Products:

  1. Drug

(3) Drugs for ERN2 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist 0
4μ8C Pharma IRE1 Rnase inhibitor, potent and non-toxic 0

(1) Additional Compounds for ERN2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0

(1) ApexBio Compounds for ERN2 Gene

Compound Action Cas Number
4μ8C IRE1 Rnase inhibitor, potent and non-toxic 14003-96-4
genes like me logo Genes that share compounds with ERN2: view

Drug Products

Transcripts for ERN2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ERN2 Gene

(7) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ERN2 Gene

Endoplasmic reticulum to nucleus signaling 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6: -

ExUns: 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ERN2 Gene

GeneLoc Exon Structure for
ERN2
ECgene alternative splicing isoforms for
ERN2

Expression for ERN2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERN2 Gene

mRNA expression in normal human tissues for ERN2 Gene
mRNA expression by BioGPS for ERN2 GenemRNA expression by GTEx for ERN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ERN2 Gene

This gene is overexpressed in Colon - Transverse (x18.0), Stomach (x9.1), Minor Salivary Gland (x7.5), Cervix - Endocervix (x5.9), and Small Intestine - Terminal Ileum (x4.2).

Protein differential expression in normal tissues from HIPED for ERN2 Gene

This gene is overexpressed in Stomach (34.7), Pancreatic juice (24.2), and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ERN2 Gene



Protein tissue co-expression partners for ERN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERN2 Gene:

ERN2

SOURCE GeneReport for Unigene cluster for ERN2 Gene:

Hs.592041

Evidence on tissue expression from TISSUES for ERN2 Gene

  • Intestine(2)
genes like me logo Genes that share expression patterns with ERN2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERN2 Gene

Orthologs for ERN2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ERN2 33 34
  • 99.28 (n)
dog
(Canis familiaris)
 Mammalia ERN2 33 34
  • 86.43 (n)
cow
(Bos Taurus)
 Mammalia ERN2 33 34
  • 86.04 (n)
mouse
(Mus musculus)
 Mammalia Ern2 33 16 34
  • 83.15 (n)
rat
(Rattus norvegicus)
 Mammalia Ern2 33
  • 82.21 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 64 (a)
 OneToMany
-- 34
  • 51 (a)
 OneToMany
-- 34
  • 43 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia ERN2 34
  • 63 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ERN1 33
  • 67.28 (n)
ERN2 34
  • 56 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ERN2 34
  • 54 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii ern2 34
  • 49 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta ire-1 35
  • 50 (a)
Ire1 34
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ire-1 35 34
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes IRE1 34
  • 23 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6665 34
  • 16 (a)
 OneToOne
Species where no ortholog for ERN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ERN2 Gene

ENSEMBL:
Gene Tree for ERN2 (if available)
TreeFam:
Gene Tree for ERN2 (if available)

Paralogs for ERN2 Gene

Paralogs for ERN2 Gene

(2) SIMAP similar genes for ERN2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ERN2: view

Variants for ERN2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ERN2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000585683 -- 23,692,848(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000609481 -- 23,699,862(-) C/G/T intron_variant
rs1000642087 -- 23,699,568(-) T/C intron_variant
rs1000860955 -- 23,698,155(-) T/C intron_variant
rs1000904301 -- 23,704,031(-) G/A intron_variant

Variation tolerance for ERN2 Gene

Residual Variation Intolerance Score: 65.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.23; 81.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERN2 Gene

Disorders for ERN2 Gene

Additional Disease Information for ERN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ERN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ERN2 Gene

Publications for ERN2 Gene

  1. Translational control by the ER transmembrane kinase/ribonuclease IRE1 under ER stress. (PMID: 11175748) Iwawaki T … Kohno K (Nature cell biology 2001) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Cloning of mammalian Ire1 reveals diversity in the ER stress responses. (PMID: 9755171) Wang XZ … Ron D (The EMBO journal 1998) 2 3 58

Products for ERN2 Gene

Sources for ERN2 Gene

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