ENSG00000128829


Homo sapiens

Features
Gene ID: ENSG00000128829
  
Biological name :EIF2AK4
  
Synonyms : EIF2AK4 / eukaryotic translation initiation factor 2 alpha kinase 4 / Q9P2K8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q15.1
Gene start: 39934146
Gene end: 40035591
  
Corresponding Affymetrix probe sets: 225164_s_at (Human Genome U133 Plus 2.0 Array)   237145_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453148
Ensembl peptide - ENSP00000453968
Ensembl peptide - ENSP00000454210
Ensembl peptide - ENSP00000263791
Ensembl peptide - ENSP00000453575
NCBI entrez gene - 440275     See in Manteia.
OMIM - 609280
RefSeq - XM_017022219
RefSeq - NM_001013703
RefSeq - XM_005254392
RefSeq - XM_011521599
RefSeq - XM_011521600
RefSeq Peptide - NP_001013725
swissprot - Q9P2K8
swissprot - H0YND8
swissprot - H0YNY9
swissprot - H0YME5
Ensembl - ENSG00000128829
  
Related genetic diseases (OMIM): 234810 - Pulmonary venoocclusive disease 2, 234810
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EIF2AK4ENSGALG00000009611Gallus gallus
 Q9QZ05ENSMUSG00000005102Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NZJ5 / EIF2AK3 / eukaryotic translation initiation factor 2 alpha kinase 3ENSG0000017207111
P19525 / EIF2AK2 / eukaryotic translation initiation factor 2 alpha kinase 2ENSG000000553329
Q9BQI3 / EIF2AK1 / eukaryotic translation initiation factor 2 alpha kinase 1ENSG000000862329


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR006575  RWD domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR016135  Ubiquitin-conjugating enzyme/RWD-like
 IPR016255  eIF-2-alpha kinase Gcn2
 IPR017441  Protein kinase, ATP binding site
 IPR024435  Histidyl tRNA synthetase-related domain
 IPR036621  Anticodon-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000077 DNA damage checkpoint IEA
 biological_processGO:0002230 positive regulation of defense response to virus by host ISS
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002286 T cell activation involved in immune response ISS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002821 positive regulation of adaptive immune response ISS
 biological_processGO:0006417 regulation of translation IEA
 biological_processGO:0006446 regulation of translational initiation ISS
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007050 cell cycle arrest IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007612 learning ISS
 biological_processGO:0007616 long-term memory ISS
 biological_processGO:0010998 regulation of translational initiation by eIF2 alpha phosphorylation IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019081 viral translation ISS
 biological_processGO:0032057 negative regulation of translational initiation in response to stress ISS
 biological_processGO:0032792 negative regulation of CREB transcription factor activity ISS
 biological_processGO:0034198 cellular response to amino acid starvation ISS
 biological_processGO:0034644 cellular response to UV ISS
 biological_processGO:0036492 eiF2alpha phosphorylation in response to endoplasmic reticulum stress IMP
 biological_processGO:0039520 induction by virus of host autophagy ISS
 biological_processGO:0044828 negative regulation by host of viral genome replication ISS
 biological_processGO:0045665 negative regulation of neuron differentiation ISS
 biological_processGO:0045947 negative regulation of translational initiation ISS
 biological_processGO:0046777 protein autophosphorylation ISS
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0060259 regulation of feeding behavior ISS
 biological_processGO:0060733 regulation of eIF2 alpha phosphorylation by amino acid starvation ISS
 biological_processGO:0070417 cellular response to cold IMP
 biological_processGO:0071264 positive regulation of translational initiation in response to starvation ISS
 biological_processGO:1900273 positive regulation of long-term synaptic potentiation ISS
 biological_processGO:1990138 neuron projection extension ISS
 biological_processGO:1990253 cellular response to leucine starvation ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005844 polysome ISS
 cellular_componentGO:0022626 cytosolic ribosome ISS
 molecular_functionGO:0000049 tRNA binding ISS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity ISS
 molecular_functionGO:0004694 eukaryotic translation initiation factor 2alpha kinase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0002092 Pulmonary hypertension 
Show

 HP:0002094 Dyspnea 
Show

 HP:0005954 Pulmonary capillary hemangiomatosis 
Show

 HP:0006518 Pulmonary venoocclusive disease 
Show

 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr