ENSG00000178127


Homo sapiens

Features
Gene ID: ENSG00000178127
  
Biological name :NDUFV2
  
Synonyms : NADH:ubiquinone oxidoreductase core subunit V2 / NDUFV2 / P19404
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: p11.22
Gene start: 9102630
Gene end: 9134345
  
Corresponding Affymetrix probe sets: 202941_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000382908
Ensembl peptide - ENSP00000464504
Ensembl peptide - ENSP00000461911
Ensembl peptide - ENSP00000327268
NCBI entrez gene - 4729     See in Manteia.
OMIM - 600532
RefSeq - XM_017025782
RefSeq - NM_021074
RefSeq Peptide - NP_066552
swissprot - J3QS34
swissprot - E7EPT4
swissprot - P19404
swissprot - J3KRB4
Ensembl - ENSG00000178127
  
Related genetic diseases (OMIM): 252010 - Mitochondrial complex I deficiency, 252010
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
 ndufv2ENSDARG00000013044Danio rerio
 NDUFV2ENSGALG00000036625Gallus gallus
 Ndufv2ENSMUSG00000024099Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002023  NADH-quinone oxidoreductase subunit E-like
 IPR036249  Thioredoxin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS
 biological_processGO:0007399 nervous system development IMP
 biological_processGO:0032981 mitochondrial respiratory chain complex I assembly TAS
 biological_processGO:0048738 cardiac muscle tissue development IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane TAS
 cellular_componentGO:0005747 mitochondrial respiratory chain complex I NAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0070469 respiratory chain IEA
 molecular_functionGO:0003954 NADH dehydrogenase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008137 NADH dehydrogenase (ubiquinone) activity NAS
 molecular_functionGO:0009055 electron transfer activity NAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051537 2 iron, 2 sulfur cluster binding IEA


Pathways (from Reactome)
Pathway description
Respiratory electron transport
Complex I biogenesis


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:0000365 Hearing loss 
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show

 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
Show

 HP:0000543 Pale optic disks 
Show

 HP:0000580 Pigmentary retinopathy 
Show

 HP:0000602 Ophthalmoplegia 
Show

 HP:0000618 Blindness 
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0000648 Optic atrophy 
Show

 HP:0000712 Emotional lability 
Show

 HP:0000998 Hypertrichosis "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators]
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 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]
Show

 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
Show

 HP:0001254 Lethargy 
Show

 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
Show

 HP:0001259 Coma 
Show

 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]
Show

 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]
Show

 HP:0001265 Hyporeflexia 
Show

 HP:0001272 Cerebellar atrophy 
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
Show

 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]
Show

 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
Show

 HP:0001399 Hepatic failure 
Show

 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
Show

 HP:0001427 Mitochondrial inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is almost always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [HPO:curators]
Show

 HP:0001508 Failure to thrive 
Show

 HP:0001510 Growth retardation 
Show

 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
Show

 HP:0001639 Hypertrophic cardiomyopathy 
Show

 HP:0001903 Anemia 
Show

 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
Show

 HP:0002013 Vomiting 
Show

 HP:0002073 Progressive cerebellar ataxia 
Show

 HP:0002093 Respiratory insufficiency 
Show

 HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
Show

 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
Show

 HP:0002181 Cerebral edema "Abnormal accumulation of fluid in the brain." [HPO:curators]
Show

 HP:0002376 Developmental regression 
Show

 HP:0002415 Leukodystrophy 
Show

 HP:0002490 Increased CSF lactate "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators]
Show

 HP:0002878 Early respiratory failure 
Show

 HP:0002928 Decreased activity of the pyruvate dehydrogenase (PDH) complex 
Show

 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
Show

 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
Show

 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
Show

 HP:0003546 Exercise intolerance 
Show

 HP:0003812 Phenotypic variability 
Show

 HP:0004481 Macrocephaly, progressive "The progressive development of an abnormally large skull." [HPO:curators]
Show

 HP:0006965 Acute necrotizing encephalopathy 
Show

 HP:0007020 Progressive spastic paraplegia 
Show

 HP:0007183 Hyperintense lesions in the basal ganglia on mri 
Show

 HP:0008316 Abnormal mitochondria on muscle biopsy 
Show

 HP:0008872 Feeding problems in infancy 
Show

 HP:0008972 Decreased activities of mitochondrial-encoded respiratory chain complexes 
Show

 HP:0009830 Peripheral neuropathy "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators]
Show

 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [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