Aliases for ERN2 Gene

Aliases for ERN2 Gene

  • Endoplasmic Reticulum To Nucleus Signaling 2 2 3 5
  • Serine/Threonine-Protein Kinase/Endoribonuclease IRE2 3 4
  • Inositol-Requiring Protein 2 3 4
  • ER To Nucleus Signalling 2 2 3
  • HIRE2p 3 4
  • IRE1b 3 4
  • 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
  • IRE1-BETA 3
  • Ire1-Beta 4
  • EC 2.7.11 52
  • 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. Diseases associated with ERN2 include Orbital Granuloma. 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 Summary 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 , Rfam classification and piRNA Summary for ERN2 Gene

Genomics for ERN2 Gene

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
GH16J023711 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 500.7 +1.0 993 1.8 ZNF217 KLF4 GATAD2B CTBP1 BCOR FOXA1 MAZ DPF2 RCOR1 NFIB ENSG00000261583 ERN2
GH16J023676 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.7 +34.4 34437 4.7 EP300 FOXK2 ZNF217 CTCF SIN3A NRF1 MYC USF1 POLR2G SP1 PLK1 piR-46201 DCTN5 PALB2 RBBP6 ENSG00000261723 ERN2 GGA2 ENSG00000260751 NDUFAB1
GH16J023690 Enhancer 0.8 Ensembl ENCODE 11.9 +22.1 22104 1.3 POLR2A KLF9 ZKSCAN1 POLR2G SRSF4 STAT5A SCRT1 PBX3 MAFK AGO2 DCTN5 PALB2 ENSG00000260751 SCNN1B RBBP6 ERN2 ENSG00000261723 ENSG00000261266 ENSG00000278912
GH16J023788 Enhancer 0.5 Ensembl 11.2 -76.0 -76001 2.2 MYC NFYB SPI1 ZNF589 POLR2A L3MBTL2 MAX YY1 NR2C2 PRKCB CHP2 ERN2 lnc-CHP2-2 piR-38579-017
GH16J023682 Enhancer 0.2 FANTOM5 11.6 +31.0 30961 0 ERN2 PALB2 DCTN5 NDUFAB1 CHP2 PLK1 ENSG00000261266
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERN2

Top Transcription factor binding sites by QIAGEN in the ERN2 gene promoter:
  • AML1a
  • c-Myb
  • c-Myc
  • ER-alpha
  • GATA-1
  • HEN1
  • Max
  • Pax-2
  • Pax-2a
  • RSRFC4

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)
Size:
23,197 bases
Orientation:
Minus strand

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 StructureGene Density

RefSeq DNA sequence for ERN2 Gene

Proteins for ERN2 Gene

  • 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=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ERN2 Gene

Selected DME Specific Peptides for ERN2 Gene

Q76MJ5:
  • HRDLKPGN
  • VHRDLKP
  • IVHRDLK

Post-translational modifications for ERN2 Gene

Domains & Families for ERN2 Gene

Gene Families for ERN2 Gene

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

Protein Domains for ERN2 Gene

Suggested Antigen Peptide Sequences for ERN2 Gene

GenScript: Design optimal peptide antigens:
  • ERN2 protein (A5YM46_HUMAN)
  • ERN2 protein (A5YM65_HUMAN)
  • Ire1-beta (ERN2_HUMAN)

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

Molecular function for ERN2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
The kinase domain is activated by trans-autophosphorylation. Kinase activity is required for activation of the endoribonuclease domain (By similarity).

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:0004521 endoribonuclease activity IBA 21873635
GO:0004540 ribonuclease 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:
  • Ern2 Ern2<tm1Dron>

Animal Model Products

CRISPR Products

miRNA for ERN2 Gene

miRTarBase miRNAs that target ERN2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERN2

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 2
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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 IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:1990604 IRE1-TRAF2-ASK1 complex IEA,ISS --
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

PathCards logo

SuperPathways for ERN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing IEA --
GO:0006468 protein phosphorylation IDA 11175748
GO:0006915 apoptotic process IEA --
GO:0007050 cell cycle arrest 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 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
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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

mRNA/cDNA for ERN2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERN2

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

Expression for ERN2 Gene

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



Protein tissue co-expression partners for ERN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERN2 31 30
  • 86.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ERN2 31 30
  • 86.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ern2 17 31 30
  • 83.15 (n)
rat
(Rattus norvegicus)
Mammalia Ern2 30
  • 82.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 64 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ERN2 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERN1 30
  • 67.28 (n)
ERN2 31
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERN2 31
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ern2 31
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ire-1 32
  • 50 (a)
Ire1 31
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ire-1 31 32
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IRE1 31
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6665 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ERN2: view image

Paralogs for ERN2 Gene

Paralogs for ERN2 Gene

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

  • ERN2_HUMAN
  • A5YM46_HUMAN
  • A5YM65_HUMAN
  • E7ETG2_HUMAN
  • H3BSU1_HUMAN
  • H3BTW8_HUMAN
  • H3BUU2_HUMAN
genes like me logo Genes that share paralogs with ERN2: view

Variants for ERN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERN2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
638406 Uncertain Significance: not specified 23,691,010(-) G/A NONSENSE
724965 Likely Benign: not provided 23,695,947(-) G/A SYNONYMOUS_VARIANT
736799 Likely Benign: not provided 23,694,785(-) G/T SYNONYMOUS_VARIANT
736800 Benign: not provided 23,700,648(-) A/G SYNONYMOUS_VARIANT
736801 Likely Benign: not provided 23,706,388(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ERN2 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for ERN2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orbital granuloma
- elite association - COSMIC cancer census association via MalaCards
Search ERN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ERN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERN2: view

No data available for 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 54
  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 41 54
  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 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Cloning of mammalian Ire1 reveals diversity in the ER stress responses. (PMID: 9755171) Wang XZ … Ron D (The EMBO journal 1998) 2 3 54

Products for ERN2 Gene

Sources for ERN2 Gene