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NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 [ Homo sapiens (human) ]

Gene ID: 4729, updated on 7-Dec-2018

Summary

Official Symbol
NDUFV2provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit V2provided by HGNC
Primary source
HGNC:HGNC:7717
See related
Ensembl:ENSG00000178127 MIM:600532
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CI-24k
Summary
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in heart (RPKM 60.6), liver (RPKM 55.1) and 25 other tissues See more
Orthologs

Genomic context

See NDUFV2 in Genome Data Viewer
Location:
18p11.22
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (9102630..9134345)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (9102628..9134343)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene gastric cancer associated transcript 2 Neighboring gene microtubule crosslinking factor 1 Neighboring gene ribosomal protein S4X pseudogene 19 Neighboring gene NDUFV2 antisense RNA 1 Neighboring gene ankyrin repeat domain 12 Neighboring gene uncharacterized LOC107985188 Neighboring gene uncharacterized LOC102724397

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to NADH dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transfer activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
Names
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial
NADH-ubiquinone oxidoreductase 24 kDa subunit
NADH-ubiquinone oxidoreductase flavoprotein 2
complex I 24kDa subunit
complex I, mitochondrial respitory chain, 24 kD subunit
nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit
NP_066552.2
XP_016881271.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013355.1 RefSeqGene

    Range
    5001..36716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021074.5NP_066552.2  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor

    See identical proteins and their annotated locations for NP_066552.2

    Status: REVIEWED

    Source sequence(s)
    BC001632, BG742948
    Consensus CDS
    CCDS11842.1
    UniProtKB/Swiss-Prot
    P19404
    Related
    ENSP00000327268.6, ENST00000318388.10
    Conserved Domains (1) summary
    pfam01257
    Location:63209
    2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    9102630..9134345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025782.1XP_016881271.1  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform X1

    Conserved Domains (2) summary
    COG1905
    Location:22183
    NuoE; NADH:ubiquinone oxidoreductase 24 kD subunit (chain E) [Energy production and conversion]
    pfam01257
    Location:34180
    2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin

RNA

  1. XR_002958175.1 RNA Sequence

  2. XR_243808.3 RNA Sequence

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