ENSG00000204311


Homo sapiens

Features
Gene ID: ENSG00000204311
  
Biological name :PJVK
  
Synonyms : pejvakin / PJVK / Q0ZLH3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q31.2
Gene start: 178451346
Gene end: 178461409
  
Corresponding Affymetrix probe sets: 235365_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496028
Ensembl peptide - ENSP00000496024
Ensembl peptide - ENSP00000496267
Ensembl peptide - ENSP00000364271
Ensembl peptide - ENSP00000386647
Ensembl peptide - ENSP00000399579
Ensembl peptide - ENSP00000410776
Ensembl peptide - ENSP00000493684
Ensembl peptide - ENSP00000494225
Ensembl peptide - ENSP00000494301
Ensembl peptide - ENSP00000495037
Ensembl peptide - ENSP00000495731
Ensembl peptide - ENSP00000495855
NCBI entrez gene - 494513     See in Manteia.
OMIM - 610219
RefSeq - XM_017004225
RefSeq - XM_011511249
RefSeq - XM_011511250
RefSeq - XM_011511251
RefSeq - XM_017004221
RefSeq - XM_017004222
RefSeq - XM_017004223
RefSeq - XM_017004224
RefSeq - NM_001042702
RefSeq - XM_005246627
RefSeq - XM_005246628
RefSeq - XM_005246629
RefSeq - XM_011511247
RefSeq Peptide - NP_001036167
RefSeq Peptide - NP_001340706
RefSeq Peptide - NP_001340707
swissprot - H7C1C3
swissprot - Q0ZLH3
swissprot - H7C3A9
swissprot - A0PK15
Ensembl - ENSG00000204311
  
Related genetic diseases (OMIM): 610220 - Deafness, autosomal recessive 59, 610220
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
 pjvkENSDARG00000079945Danio rerio
 PJVKENSGALG00000023439Gallus gallus
 PjvkENSMUSG00000075267Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GSDME / O60443 / gasdermin EENSG0000010592829


Protein motifs (from Interpro)
Interpro ID Name
 IPR007677  Gasdermin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 cellular_componentGO:0043025 neuronal cell body 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]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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