EIF2AK3 Gene
protein-coding GIFtS: 64
GCID: GC02M088857
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|
eukaryotic translation initiation factor 2-alpha kinase...
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Aliases
for EIF2AK3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Eukaryotic Translation Initiation Factor 2-Alpha Kinase 31 2 | | EC 2.7.11.13 8 | | PEK1 2 3 5 | | WRS2 5 | | PERK1 2 3 5 | | Eukaryotic Translation Initiation Factor 2 Alpha Kinase 32 | | Pancreatic EIF2-Alpha Kinase2 3 | | HsPEK3 | | PRKR-Like Endoplasmic Reticulum Kinase2 3 | | HsPEK3 |
Export aliases for EIF2AK3 gene to outside databasesPrevious GC identifers: GC02M088410 GC02M089149 GC02M088741 GC02M088758 GC02M088695 GC02M088637 GC02M087778 |
Summaries
for EIF2AK3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for EIF2AK3:
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2),leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of globalprotein synthesis. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced byER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome.(provided by RefSeq, Jan 2010)
UniProtKB/Swiss-Prot: E2AK3_HUMAN, Q9NZJ5Function: Phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to itsinactivation and thus to a rapid reduction of translational initiation and repression of global protein synthesis.Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1(CCND1) (By similarity)
Gene Wiki entry for EIF2AK3
|
Genomic Views
for EIF2AK3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the EIF2AK3 gene promoter:
AP-1 ATF-2 NF-kappaB CBF-A STAT3 c-Jun NF-kappaB1 NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for EIF2AK3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EIF2AK3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p12 Ensembl cytogenetic band: 2p11.2 HGNC cytogenetic band: 2p12EIF2AK3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M088857: view genomic region
(about GC identifiers)
Start:
|
88,856,259 bp from pter |
End:
|
88,927,094 bp from pter |
Size:
|
70,836 bases |
Orientation:
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minus strand |
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Proteins
for EIF2AK3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: E2AK3_HUMAN, Q9NZJ5 (See
protein sequence)Recommended Name: Eukaryotic translation initiation factor 2-alpha kinase 3 precursor Size: 1116 amino acids; 125216 Da
Subunit: Forms dimers with HSPA5/BIP in resting cells. Oligomerizes in ER-stressed cells. Interacts with DNAJC3 (Bysimilarity)
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein
2 PDB 3D structures from  and Proteopedia  for EIF2AK3:4G31 (3D)
4G34 (3D)
Secondary accessions: A0AVH1 A0AVH2 B2RCU9 O95846 Q53QY0 Q53SB1Explore the universe of human proteins at neXtProt for EIF2AK3: NX_Q9NZJ5
Post-translational modifications:
Oligomerization of the N-terminal ER luminal domain by ER stress promotes PERK trans-autophosphorylation of theC-terminal cytoplasmic kinase domain at multiple residues including Thr-982 on the kinase activation loop (Bysimilarity). Autophosphorylated. Phosphorylated at Tyr-619 following endoplasmic reticulum stress, leading to activateits tyrosine-protein kinase activity. Dephosphorylated by PTPN1/TP1B, leading to inactivate its enzyme activity1
N-glycosylated (By similarity)1
ADP-ribosylated by PARP16 upon ER stress, which increases kinase activity1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NZJ5
2 DME Specific Peptides for EIF2AK3 (Q9NZJ5)
EIF2AK3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004827.4
ENSEMBL proteins: ENSP00000408325 ENSP00000307235 ENSP00000412076 Reactome Protein details: Q9NZJ5
Human Recombinant Protein Products for EIF2AK3:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
EIF2AK3 for ontologies About GeneDecksing
EIF2AK3 Antibody Products:
Assay Products for EIF2AK3: |
Protein
Domains /
Families
for EIF2AK3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
EIF2AK3 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NZJ5ProtoNet protein and cluster: Q9NZJ5 UniProtKB/Swiss-Prot: E2AK3_HUMAN, Q9NZJ5Domain: The lumenal domain senses perturbations in protein folding in the ER, probably through reversible interactionwith HSPA5/BIP (By similarity)Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamilySimilarity: Contains 1 protein kinase domain |
Function
for EIF2AK3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: E2AK3_HUMAN, Q9NZJ5Function: Phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to itsinactivation and thus to a rapid reduction of translational initiation and repression of global protein synthesis.Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1(CCND1) (By similarity)Catalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme regulation: Perturbation in protein folding in the endoplasmic reticulum (ER) promotes reversible dissociationfrom HSPA5/BIP and oligomerization, resulting in transautophosphorylation and kinase activity induction (Bysimilarity)Induction: By endoplasmic reticulum stress Genatlas biochemistry entry for EIF2AK3:elongation initiation factor 2-alpha kinase 3,mainly expressed in pancreas,colocolizing with somatostatin in isletdelta-cells,putatively involved in regulating protein synthesis
Enzyme Number (IUBMB): EC 2.7.11.11 2
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
EIF2AK3 for ontologies About GeneDecksing
Phenotypes:
11 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Eif2ak3):
EIF2AK3 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for EIF2AK3: Eif2ak3tm1Dron Eif2ak3tm1Drc
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EIF2AK3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EIF2AK3 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: EIF2AK3 (NM_004836) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EIF2AK3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EIF2AK3 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF2AK3 |
|
Pathways & Interactions
for EIF2AK3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Measles | | | 2 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 3 | Development_CNTF receptor signaling | | | 4 | Translation Factors | | | 5 | Hepatitis C | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for EIF2AK3
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EIF2AK3
1 
Cell Signaling Technology (CST) Pathway for EIF2AK3
1  GeneGo (Thomson Reuters) Pathway for EIF2AK3
2  BioSystems Pathways for EIF2AK3
3 
Reactome Pathways for EIF2AK3
5 
Kegg Pathways (Kegg details for EIF2AK3):
EIF2AK3 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EIF2AK3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 24)
5/25 Interacting proteins for EIF2AK3 (Q9NZJ51, 3 ENSP000003072354) via UniProtKB, MINT, STRING, and/or I2D (see all 25)About this table
Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31): About this table
EIF2AK3 for ontologies About GeneDecksing
|
Drugs & Compounds
for EIF2AK3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
EIF2AK3 for compounds About GeneDecksing
 Browse Tocris compounds for EIF2AK3
2 HMDB Compounds for EIF2AK3 About this table
10/23 Novoseek chemical compound relationships for EIF2AK3 gene (see all 23) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pd 98,059 |
53.9 |
8 |
18455446 (1), 19087521 (1), 18989579 (1), 20056088 (1) |
| thapsigargin |
52.7 |
6 |
19428936 (1), 20022965 (1), 17525289 (1), 17941056 (1) |
| ly294002 |
44.2 |
1 |
18383822 (1) |
| inositol |
30.2 |
6 |
17349291 (1), 17178827 (1), 16205645 (1), 15799970 (1) (see all 6) |
| tyrosine |
20 |
3 |
17998206 (3) |
| rapamycin |
17.6 |
2 |
18768473 (1) |
| vitamin-e |
17.4 |
1 |
18468636 (1) |
| s-nitroso-n-acetylpenicillamine |
15.6 |
5 |
15605392 (1), 16029920 (1) |
| tamoxifen |
13.7 |
7 |
15753463 (2), 17011908 (2), 12425799 (1), 18468636 (1) |
| nitric oxide |
12.8 |
16 |
16029920 (3), 20170287 (2), 16141331 (2), 15677503 (1) (see all 9) |
Search CenterWatch for drugs/clinical trials and news about EIF2AK3 / E2AK3
|
Transcripts
for EIF2AK3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for EIF2AK3 gene: NM_004836.5 Unigene Cluster for EIF2AK3: Eukaryotic translation initiation factor 2-alpha kinase 3 Hs.591589 [show with all ESTs]Unigene Representative Sequence: NM_0048366 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000419748 ENST00000303236(uc002stc.4) ENST00000415570 ENST00000470706
ENST00000478003 ENST00000477083
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EIF2AK3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EIF2AK3 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: EIF2AK3 (NM_004836) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EIF2AK3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EIF2AK3 |
Additional cDNA sequence: AF110146.1 AF193339.1 AK128659.1 AK308312.1 AK315287.1 BC126354.1 BC126356.1 CR749382.1 11 DOTS entries: DT.121033331 DT.101982874 DT.100815553 DT.121033339 DT.97783687 DT.114894 DT.86857088 DT.102830891 DT.121033357 DT.121033371 DT.91967352 24/142 AceView cDNA sequences (see all 142): BM666209 AI524196 BQ014181 AA744670 F07171 AA768127 AA292654 CA440854 AV714829 AA488896 AA215520 BE672887 AI589666 BX112252 AA552360 AI650734 AA766941 CK823556 CA412396 F05945 AI337430 BG698166 BF055061 AA737435
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for EIF2AK3 (see all 9) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 17 | ^ | 18 | ^ | 19 | ^ | 20 |
|---|
|
| SP1: | | | | | | | | | |
| SP2: | | | | | | | | | |
| SP3: | | | | | | | | | |
| SP4: | | | | | | | | | |
| SP5: | | | | | | | | |
ECgene alternative splicing isoforms for EIF2AK3
|
Expression
for EIF2AK3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| EIF2AK3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTTATTTT
About this image
See EIF2AK3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EIF2AK3
SOURCE GeneReport for Unigene cluster: Hs.591589
UniProtKB/Swiss-Prot: E2AK3_HUMAN, Q9NZJ5Tissue specificity: Ubiquitous. A high level expression is seen in secretory tissues
SABiosciences Expression via Pathway-Focused PCR Arrays including EIF2AK3:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EIF2AK3
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EIF2AK3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EIF2AK3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EIF2AK3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF2AK3 |
Orthologs
for EIF2AK3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for EIF2AK3 gene from 7/26 species (see all 26) About this table
ENSEMBL Gene Tree for EIF2AK3 (if available)
TreeFam Gene Tree for EIF2AK3 (if available) |
Paralogs
for EIF2AK3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for EIF2AK3 gene
- EIF2AK12 EIF2AK42 EIF2AK22
6 SIMAP similar genes for EIF2AK3 using alignment to 3 protein entries: E2AK3_HUMAN (see all proteins):DKFZp781H1925 MAPK8 STK11 CAMK1 EIF2AK1 NUAK1
EIF2AK3 for paralogs About GeneDecksing
|
Genomic Variants
for EIF2AK3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for EIF2AK3 (88856259 - 88927094 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EIF2AK3: --
Human Gene Mutation Database (HGMD): EIF2AK3
Locus Specific Mutation Databases (LSDB): EIF2AK3
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EIF2AK3 |
|
Disorders
/ Diseases
for EIF2AK3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
EIF2AK3 for disorders About GeneDecksing
OMIM gene information: 604032
OMIM disorders: 226980
UniProtKB/Swiss-Prot: E2AK3_HUMAN, Q9NZJ5
Defects in EIF2AK3 are the cause of Wolcott-Rallison syndrome (WRS) [MIM:226980]; also known as multipleepiphyseal dysplasia with early-onset diabetes mellitus. WRS is a rare autosomal recessive disorder, characterized bypermanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia,osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, mentalretardation and cardiovascular abnormalities
20/64  diseases for EIF2AK3 (see all 64): About MalaCardswolcott-rallison syndrome epiphyseal dysplasia supranuclear palsy refractive error
progressive supranuclear palsy dermatofibrosarcoma protuberans multiple epiphyseal dysplasia pancreatitis
malignant pleural mesothelioma clear cell renal cell carcinoma severe acute respiratory syndrome intractable epilepsy
squamous cell carcinoma malignant mesothelioma chronic obstructive pulmonary disease dermatofibrosarcoma
brain ischemia intraepithelial neoplasm squamous cell carcinoma of the head and neck renal cell carcinoma
1 disease from the University of Copenhagen DISEASES database for EIF2AK3:Cancer 10/18 Novoseek disease relationships for EIF2AK3 gene (see all 18) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| wolcott-rallison syndrome |
92.6 |
14 |
16813601 (2), 12475790 (1), 16972080 (1), 18704764 (1) (see all 9) |
| tumors |
36.3 |
33 |
18451152 (2), 15483017 (2), 16009947 (2), 16452230 (2) (see all 19) |
| cancer |
30.4 |
12 |
19396842 (2), 16983702 (1), 18193422 (1), 16792545 (1) (see all 6) |
| melanoma |
25.6 |
5 |
16254105 (4), 18794803 (1) |
| breast cancer |
24.1 |
2 |
14613031 (1), 20371724 (1) |
| brain ischemia |
23.5 |
1 |
11823711 (1) |
| ovarian carcinoma |
21 |
2 |
16191507 (2) |
| solid tumor |
18.6 |
1 |
16494928 (1) |
| malignant mesothelioma |
12.1 |
1 |
16517979 (1) |
| leukemia |
10.5 |
1 |
17548474 (1) |
Human Genome Epidemiology (HuGE) Navigator: EIF2AK3 (5 documents)
Export disorders for EIF2AK3 gene to outside databases
|
Publications
for EIF2AK3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for EIF2AK3 gene, integrated from 9 sources (see all 312):
(articles sorted by number of sources associating them with EIF2AK3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of a mutant pancreatic eIF-2alpha kinase, PEK, and co-localization with somatostatin in islet delta cells. (PubMed id 10026192)1, 2, 3, 9 Shi Y....Yang N.N. (1999)
- Pancreatic eukaryotic initiation factor-2alpha kinase (PEK) homologues in humans, Drosophila melanogaster and Caenorhabditis elegans that mediate translational control in response to endoplasmic reticulum stress. (PubMed id 10677345)1, 2, 9 Sood R.... Wek R.C. (2000)
- EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. (PubMed id 10932183)1, 2, 9 Delepine M....Julier C. (2000)
- PARP16 is a tail-anchored endoplasmic reticulum protein required for the PERK-and IRE1alpha-mediated unfolded protein response. (PubMed id 23103912)1, 2 Jwa M. and Chang P. (2012)
- H2s-induced sulfhydration of the phosphatase PTP1B and its role in the endoplasmic reticulum stress response. (PubMed id 22169477)1, 2 Krishnan N.... Tonks N.K. (2011)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Assignment of pancreatic eIF-2alpha kinase (EIF2AK3) to human chromosome band 2p12 by radiation hybrid mapping and in situ hybridization. (PubMed id 10575235)1, 3 Hayes S.E....Shi Y. (1999)
- Dimerization and release of molecular chaperone inhibition facilitate activation of eukaryotic initiation factor-2 kinase in response to endoplasmic reticulum stress. (PubMed id 11907036)1, 9 Ma K....Wek R.C. (2002)
- The EIF2AK3 gene region and type I diabetes in subjects from South India. (PubMed id 15483661)1, 9 Allotey R.A....Hitman G.A. (2004)
- Nrf2 is a direct PERK substrate and effector of PERK-dependent cell survival. (PubMed id 14517290)1, 9 Cullinan S.B....Diehl J.A. (2003)
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External Searches for EIF2AK3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing EIF2AK3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing EIF2AK3 gene
(According to HUGE)
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Specialized Databases showing EIF2AK3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for EIF2AK3 gene:
Search GeneIP for patents involving EIF2AK3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for EIF2AK3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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