ENSG00000174917


Homo sapiens

Features
Gene ID: ENSG00000174917
  
Biological name :C19orf70
  
Synonyms : C19orf70 / chromosome 19 open reading frame 70 / Q5XKP0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.3
Gene start: 5678421
Gene end: 5680896
  
Corresponding Affymetrix probe sets: 225823_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000465739
Ensembl peptide - ENSP00000468723
Ensembl peptide - ENSP00000309561
Ensembl peptide - ENSP00000464857
NCBI entrez gene - 125988     See in Manteia.
OMIM - 616658
RefSeq - XM_017026248
RefSeq - NM_001308240
RefSeq - NM_205767
RefSeq - XM_011527675
RefSeq Peptide - NP_001295169
RefSeq Peptide - NP_991330
swissprot - A0A140TA84
swissprot - A0A140TA86
swissprot - K7EIR2
swissprot - Q5XKP0
Ensembl - ENSG00000174917
  
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
 Q1LUK1ENSDARG00000071378Danio rerio
 C19orf70ENSGALG00000026847Gallus gallus
 Q8R404ENSMUSG00000049760Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR026769  MICOS complex subunit Mic13


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0042407 cristae formation IMP
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0044284 mitochondrial crista junction IDA
 cellular_componentGO:0061617 MICOS complex IEA


Pathways (from Reactome)
Pathway description
Cristae formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000505 Impaired vision 
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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:0001249 Mental retardation 
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001266 Choreoathetosis 
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0002313 Spastic paraparesis 
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 HP:0003535 3-Methylglutaconic aciduria 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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