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Aliases for EIF2AK3 Gene

Aliases for EIF2AK3 Gene

  • Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3 2 3 5
  • PRKR-Like Endoplasmic Reticulum Kinase 3 4
  • Pancreatic EIF2-Alpha Kinase 3 4
  • EC 2.7.11.1 4 56
  • PERK 3 4
  • PEK 3 4
  • Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 3
  • HsPEK 4
  • WRS 3

External Ids for EIF2AK3 Gene

Previous GeneCards Identifiers for EIF2AK3 Gene

  • GC02M088410
  • GC02M089149
  • GC02M088741
  • GC02M088758
  • GC02M088695
  • GC02M087778
  • GC02M088857

Summaries for EIF2AK3 Gene

Entrez Gene Summary for EIF2AK3 Gene

  • The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]

GeneCards Summary for EIF2AK3 Gene

EIF2AK3 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3) is a Protein Coding gene. Diseases associated with EIF2AK3 include Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus and Diversion Colitis. Among its related pathways are Mitophagy - animal and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is EIF2AK4.

UniProtKB/Swiss-Prot for EIF2AK3 Gene

  • Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on Ser-52 during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function.

Tocris Summary for EIF2AK3 Gene

  • PKR-like ER kinase (PERK, EIF2AK3) is an elF2alpha kinase that inhibits protein translation. PERK is a type one endoplasmic reticulum (ER) membrane protein which is involved in both the integrated stress response (ISR) and unfolded protein response (UPR).

Gene Wiki entry for EIF2AK3 Gene

Additional gene information for EIF2AK3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2AK3 Gene

Genomics for EIF2AK3 Gene

GeneHancer (GH) Regulatory Elements for EIF2AK3 Gene

Promoters and enhancers for EIF2AK3 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
GH02I088625 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.1 -146 3.8 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC LOC101928403 EIF2AK3 LOC730268 RPIA TEX37 ANKRD36BP2 GC02M088650
GH02I088626 Enhancer 0.7 ENCODE dbSUPER 550.8 +2.0 1998 0.2 POLR2A SCRT2 ZSCAN4 MLLT1 EIF2AK3 LOC101928403 GC02P088558
GH02I088598 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +26.4 26430 4.5 PKNOX1 ARID4B NEUROD1 SIN3A IRF4 FOS DEK SP3 JUNB REST EIF2AK3 LOC101928403 RPIA ANKRD36BP2 GC02P088558
GH02I088015 Promoter/Enhancer 1.6 Ensembl ENCODE 11.2 +610.9 610869 2.5 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A LOC105374852 RNU2-63P LOC102724642 LOC730268 ENSG00000231259 LOC100420889 RPIA KRCC1 EIF2AK3 THNSL2
GH02I088835 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 9.4 -215.0 -215017 14.1 ZNF282 FOXA2 HLF CEBPB ATF2 RELA POLR2A IKZF1 NBN CREB1 EIF2AK3 ANKRD36BP2 IGKV1-13 RPIA LOC101928403 IGKDEL ENSG00000240040 GC02M088842 IGKC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EIF2AK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EIF2AK3 gene promoter:

Genomic Locations for EIF2AK3 Gene

Genomic Locations for EIF2AK3 Gene
chr2:88,556,741-88,627,576
(GRCh38/hg38)
Size:
70,836 bases
Orientation:
Minus strand
chr2:88,856,259-88,927,094
(GRCh37/hg19)

Genomic View for EIF2AK3 Gene

Genes around EIF2AK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2AK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2AK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2AK3 Gene

Proteins for EIF2AK3 Gene

  • Protein details for EIF2AK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZJ5-E2AK3_HUMAN
    Recommended name:
    Eukaryotic translation initiation factor 2-alpha kinase 3
    Protein Accession:
    Q9NZJ5
    Secondary Accessions:
    • A0AVH1
    • A0AVH2
    • B2RCU9
    • O95846
    • Q53QY0
    • Q53SB1

    Protein attributes for EIF2AK3 Gene

    Size:
    1116 amino acids
    Molecular mass:
    125216 Da
    Quaternary structure:
    • Forms dimers with HSPA5/BIP in resting cells (By similarity). Oligomerizes in ER-stressed cells (By similarity). Interacts with DNAJC3 and MFN2 (By similarity). Interacts with TMEM33 (PubMed:26268696). Interacts with PDIA6 (PubMed:24508390).

    Three dimensional structures from OCA and Proteopedia for EIF2AK3 Gene

neXtProt entry for EIF2AK3 Gene

Selected DME Specific Peptides for EIF2AK3 Gene

Q9NZJ5:
  • IVRYFNAW
  • KVYLYIQMQLCRKE

Post-translational modifications for EIF2AK3 Gene

  • ADP-ribosylated by PARP16 upon ER stress, which increases kinase activity.
  • N-glycosylated.
  • Oligomerization of the N-terminal ER luminal domain by ER stress promotes PERK trans-autophosphorylation of the C-terminal cytoplasmic kinase domain at multiple residues including Thr-982 on the kinase activation loop (By similarity). Autophosphorylated. Phosphorylated at Tyr-619 following endoplasmic reticulum stress, leading to activate its tyrosine-protein kinase activity. Dephosphorylated by PTPN1/TP1B, leading to inactivate its enzyme activity.
  • Glycosylation at posLast=258258

Other Protein References for EIF2AK3 Gene

Domains & Families for EIF2AK3 Gene

Gene Families for EIF2AK3 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for EIF2AK3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZJ5

UniProtKB/Swiss-Prot:

E2AK3_HUMAN :
  • The lumenal domain senses perturbations in protein folding in the ER, probably through reversible interaction with HSPA5/BIP.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily.
Domain:
  • The lumenal domain senses perturbations in protein folding in the ER, probably through reversible interaction with HSPA5/BIP.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily.
genes like me logo Genes that share domains with EIF2AK3: view

Function for EIF2AK3 Gene

Molecular function for EIF2AK3 Gene

GENATLAS Biochemistry:
elongation initiation factor 2-alpha kinase 3,mainly expressed in pancreas,colocolizing with somatostatin in islet delta-cells,putatively involved in regulating protein synthesis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Perturbation in protein folding in the endoplasmic reticulum (ER) promotes reversible dissociation from HSPA5/BIP and oligomerization, resulting in transautophosphorylation and kinase activity induction.
UniProtKB/Swiss-Prot Function:
Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on Ser-52 during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function.
UniProtKB/Swiss-Prot Induction:
By endoplasmic reticulum stress.

Enzyme Numbers (IUBMB) for EIF2AK3 Gene

Phenotypes From GWAS Catalog for EIF2AK3 Gene

Gene Ontology (GO) - Molecular Function for EIF2AK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS,IEA 10026192
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004694 eukaryotic translation initiation factor 2alpha kinase activity IEA,IMP 12086964
GO:0005515 protein binding IPI 11907036
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with EIF2AK3: view
genes like me logo Genes that share phenotypes with EIF2AK3: view

Human Phenotype Ontology for EIF2AK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EIF2AK3 Gene

MGI Knock Outs for EIF2AK3:

Animal Model Products

miRNA for EIF2AK3 Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for EIF2AK3 Gene

Localization for EIF2AK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF2AK3 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 EIF2AK3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EIF2AK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005783 endoplasmic reticulum TAS 12086964
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EIF2AK3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EIF2AK3 Gene

Pathways & Interactions for EIF2AK3 Gene

genes like me logo Genes that share pathways with EIF2AK3: view

Pathways by source for EIF2AK3 Gene

1 GeneTex pathway for EIF2AK3 Gene
1 Cell Signaling Technology pathway for EIF2AK3 Gene
1 GeneGo (Thomson Reuters) pathway for EIF2AK3 Gene
2 Qiagen pathways for EIF2AK3 Gene

SIGNOR curated interactions for EIF2AK3 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for EIF2AK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development ISS --
GO:0001503 ossification IMP 12086964
GO:0001525 angiogenesis IMP 22915762
GO:0002063 chondrocyte development ISS --
GO:0006417 regulation of translation IEA --
genes like me logo Genes that share ontologies with EIF2AK3: view

Drugs & Compounds for EIF2AK3 Gene

(21) Drugs for EIF2AK3 Gene - From: ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 0
GSK2606414 Pharma PERK inhibitor,potent and selective, Potent and selective PERK inhibitor; orally bioavailable 0
GSK2656157 Pharma PERK inhibitor 0
ISRIB (trans-isomer) Pharma PERK inhibitor,potent and selective 0

(8) Additional Compounds for EIF2AK3 Gene - From: Novoseek, Tocris, and 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
AMG PERK 44
Azoramide
932986-18-0

(4) Tocris Compounds for EIF2AK3 Gene

Compound Action Cas Number
AMG PERK 44 Potent and selective PERK inhibitor; orally bioavailable
Azoramide Unfolded protein response (UPR) modulator 932986-18-0
GSK 2606414 Potent and selective PERK inhibitor; orally bioavailable 1337531-36-8
trans-ISRIB Integrated stress response (ISR) inhibitor 1597403-47-8

(3) ApexBio Compounds for EIF2AK3 Gene

Compound Action Cas Number
GSK2606414 PERK inhibitor,potent and selective 1337531-36-8
GSK2656157 PERK inhibitor 1337532-29-2
ISRIB (trans-isomer) PERK inhibitor,potent and selective 1597403-47-8
genes like me logo Genes that share compounds with EIF2AK3: view

Drug Products

Transcripts for EIF2AK3 Gene

Unigene Clusters for EIF2AK3 Gene

Eukaryotic translation initiation factor 2-alpha kinase 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2AK3 Gene

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:
SP6: -
SP7:
SP8:
SP9:

ExUns: 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for EIF2AK3 Gene

GeneLoc Exon Structure for
EIF2AK3
ECgene alternative splicing isoforms for
EIF2AK3

Expression for EIF2AK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EIF2AK3 Gene

Protein differential expression in normal tissues from HIPED for EIF2AK3 Gene

This gene is overexpressed in Cervix (45.7), Plasma (9.7), and Monocytes (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EIF2AK3 Gene



NURSA nuclear receptor signaling pathways regulating expression of EIF2AK3 Gene:

EIF2AK3

SOURCE GeneReport for Unigene cluster for EIF2AK3 Gene:

Hs.591589

mRNA Expression by UniProt/SwissProt for EIF2AK3 Gene:

Q9NZJ5-E2AK3_HUMAN
Tissue specificity: Ubiquitous. A high level expression is seen in secretory tissues.

Evidence on tissue expression from TISSUES for EIF2AK3 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Pancreas(4.5)
  • Lung(2.6)
  • Heart(2.5)
  • Intestine(2.4)
  • Muscle(2.4)
  • Skin(2.3)
  • Kidney(2.2)
  • Bone marrow(2.1)
  • Stomach(2.1)
  • Lymph node(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2AK3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • pancreas
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with EIF2AK3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for EIF2AK3 Gene

Orthologs for EIF2AK3 Gene

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

Orthologs for EIF2AK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2AK3 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia EIF2AK3 33 34
  • 90.21 (n)
cow
(Bos Taurus)
Mammalia EIF2AK3 33 34
  • 86.95 (n)
rat
(Rattus norvegicus)
Mammalia Eif2ak3 33
  • 83.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2AK3 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2ak3 33 16 34
  • 82.76 (n)
oppossum
(Monodelphis domestica)
Mammalia EIF2AK3 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF2AK3 33 34
  • 77.03 (n)
lizard
(Anolis carolinensis)
Reptilia EIF2AK3 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2ak3 33
  • 69.18 (n)
Str.7282 33
zebrafish
(Danio rerio)
Actinopterygii eif2ak3 33 34
  • 62.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013266 33
  • 45.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta PEK 35 34
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea Y38E10A.8 34
  • 33 (a)
OneToMany
pek-1 34
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN2 34
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13424 33
Species where no ortholog for EIF2AK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for EIF2AK3 Gene

ENSEMBL:
Gene Tree for EIF2AK3 (if available)
TreeFam:
Gene Tree for EIF2AK3 (if available)

Paralogs for EIF2AK3 Gene

Paralogs for EIF2AK3 Gene

(5) SIMAP similar genes for EIF2AK3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EIF2AK3: view

Variants for EIF2AK3 Gene

Sequence variations from dbSNP and Humsavar for EIF2AK3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs10208681 uncertain-significance, Wolcott-Rallison dysplasia 88,557,796(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1057524886 uncertain-significance, Monogenic diabetes 88,595,662(-) A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121908569 pathogenic, Wolcott-Rallison dysplasia, Wolcott-Rallison syndrome (WRS) [MIM:226980] 88,583,430(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121908570 pathogenic, Wolcott-Rallison dysplasia 88,590,826(-) C/A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs13045 conflicting-interpretations-of-pathogenicity, benign, not specified, Wolcott-Rallison dysplasia 88,595,605(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EIF2AK3 Gene

Variant ID Type Subtype PubMed ID
dgv61n16 CNV deletion 17901297
dgv6947n54 CNV gain 21841781
nsv1072005 CNV deletion 25765185
nsv1130752 CNV deletion 24896259
nsv1148611 CNV deletion 26484159
nsv470476 CNV gain 18288195
nsv507022 OTHER sequence alteration 20534489
nsv582384 CNV loss 21841781
nsv582386 CNV loss 21841781

Variation tolerance for EIF2AK3 Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.17; 90.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF2AK3 Gene

Human Gene Mutation Database (HGMD)
EIF2AK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2AK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2AK3 Gene

Disorders for EIF2AK3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for EIF2AK3 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
  • med-iddm syndrome
diversion colitis
neonatal diabetes mellitus
  • diabetes mellitus syndrome in newborn infant
diabetes mellitus, permanent neonatal
  • pndm
acneiform dermatitis
  • dermatitis acneiform
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

E2AK3_HUMAN
  • Wolcott-Rallison syndrome (WRS) [MIM:226980]: A rare autosomal recessive disorder, characterized by permanent 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, mental retardation and cardiovascular abnormalities. {ECO:0000269 PubMed:10932183}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EIF2AK3

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 EIF2AK3: view

No data available for Genatlas for EIF2AK3 Gene

Publications for EIF2AK3 Gene

  1. Characterization of a mutant pancreatic eIF-2alpha kinase, PEK, and co-localization with somatostatin in islet delta cells. (PMID: 10026192) Shi Y … Yang NN (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. 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. (PMID: 10677345) Sood R … Wek RC (The Biochemical journal 2000) 3 4 22 58
  3. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. (PMID: 10932183) Delépine M … Julier C (Nature genetics 2000) 3 4 22 58
  4. TMEM33: a new stress-inducible endoplasmic reticulum transmembrane protein and modulator of the unfolded protein response signaling. (PMID: 26268696) Sakabe I … Kasid UN (Breast cancer research and treatment 2015) 3 4 58
  5. PARP16 is a tail-anchored endoplasmic reticulum protein required for the PERK- and IRE1α-mediated unfolded protein response. (PMID: 23103912) Jwa M … Chang P (Nature cell biology 2012) 3 4 58

Products for EIF2AK3 Gene

Sources for EIF2AK3 Gene

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