ENSG00000108176


Homo sapiens

Features
Gene ID: ENSG00000108176
  
Biological name :DNAJC12
  
Synonyms : DNAJC12 / DnaJ heat shock protein family (Hsp40) member C12 / Q9UKB3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q21.3
Gene start: 67796665
Gene end: 67838166
  
Corresponding Affymetrix probe sets: 218976_at (Human Genome U133 Plus 2.0 Array)   223721_s_at (Human Genome U133 Plus 2.0 Array)   223722_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000343575
Ensembl peptide - ENSP00000225171
Ensembl peptide - ENSP00000474215
Ensembl peptide - ENSP00000474804
Ensembl peptide - ENSP00000473979
NCBI entrez gene - 56521     See in Manteia.
OMIM - 606060
RefSeq - XM_017016432
RefSeq - NM_021800
RefSeq - NM_201262
RefSeq Peptide - NP_957714
RefSeq Peptide - NP_068572
swissprot - Q9UKB3
swissprot - S4R3E2
swissprot - S4R3W0
swissprot - S4R368
swissprot - Q6IAH1
Ensembl - ENSG00000108176
  
Related genetic diseases (OMIM): 617384 - Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
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
 dnajc12ENSDARG00000086691Danio rerio
 DNAJC12ENSGALG00000002769Gallus gallus
 Q9R022ENSMUSG00000036764Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NVM6 / DNAJC17 / DnaJ heat shock protein family (Hsp40) member C17ENSG0000010412922


Protein motifs (from Interpro)
Interpro ID Name
 IPR001623  DnaJ domain
 IPR029827  J domain-containing protein 1-like
 IPR036869  Chaperone J-domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI


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:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000750 Impaired language development 
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0002136 Broad-based gait "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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