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NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 [ Homo sapiens (human) ]

Gene ID: 4695, updated on 5-Nov-2017
Official Symbol
NDUFA2provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A2provided by HGNC
Primary source
HGNC:HGNC:7685
See related
Ensembl:ENSG00000131495 MIM:602137; Vega:OTTHUMG00000129505
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
B8; CD14; CIB8
Summary
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Expression
Ubiquitous expression in kidney (RPKM 47.3), fat (RPKM 36.0) and 25 other tissues See more
Orthologs
Location:
5q31.3
Exon count:
3
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (140645363..140647785, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140024948..140027370, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene transmembrane and coiled-coil domains 6 Neighboring gene ribosomal protein L36 pseudogene 11 Neighboring gene CD14 molecule Neighboring gene microRNA 3655 Neighboring gene IK cytokine Neighboring gene WD repeat domain 55 Neighboring gene DND microRNA-mediated repression inhibitor 1

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
Names
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NADH-ubiquinone oxidoreductase subunit CI-B8
complex I B8 subunit
NP_001171941.1
NP_002479.1

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_021417.1 RefSeqGene

    Range
    5001..7423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001185012.1NP_001171941.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a protein with a shorter and distinct C-terminus (isoform 2), compared to isoform 1. It is unknown if isoform 2 is located to the mitochondria and/or if it is functional.
    Source sequence(s)
    AA993683, AC116353, BQ054127
    Consensus CDS
    CCDS54911.1
    UniProtKB/Swiss-Prot
    O43678
    Related
    ENSP00000427220.1, OTTHUMP00000223709, ENST00000512088.1, OTTHUMT00000372955
    Conserved Domains (1) summary
    smart00916
    Location:2869
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
  2. NM_002488.4NP_002479.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_002479.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA993683, AC116353, BC003674
    Consensus CDS
    CCDS4234.1
    UniProtKB/Swiss-Prot
    O43678
    Related
    ENSP00000252102.4, OTTHUMP00000159890, ENST00000252102.8, OTTHUMT00000251679
    Conserved Domains (1) summary
    smart00916
    Location:2897
    L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

RNA

  1. NR_033697.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) retains an intron, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA993683, AC116353, BM706616
    Related
    ENST00000502960.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

    Range
    140645363..140647785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    139458184..139460605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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