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NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 [ Homo sapiens (human) ]

Gene ID: 4720, updated on 13-Jan-2020

Summary

Official Symbol
NDUFS2provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S2provided by HGNC
Primary source
HGNC:HGNC:7708
See related
Ensembl:ENSG00000158864 MIM:602985
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-49; MC1DN6
Summary
The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 35.6) and 25 other tissues See more
Orthologs

Genomic context

See NDUFS2 in Genome Data Viewer
Location:
1q23.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161199315..161214395)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161167209..161184185)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 21 Neighboring gene protoporphyrinogen oxidase Neighboring gene beta-1,4-galactosyltransferase 3 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 4 Neighboring gene Fc fragment of IgE receptor Ig Neighboring gene apolipoprotein A2

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to NADH dehydrogenase activity IMP
Inferred from Mutant Phenotype
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 
quinone binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
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 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
Names
CI-49kD
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NADH-ubiquinone oxidoreductase 49 kDa subunit
NADH-ubiquinone oxidoreductase NDUFS2 subunit
complex 1, mitochondrial respiratory chain, 49-KD subunit
complex I 49kDa subunit
complex I-49kD
NP_001159631.1
NP_004541.1
XP_005245266.1

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_013352.1 RefSeqGene

    Range
    5001..20081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166159.2NP_001159631.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' end compared to variant 1, resulting in a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Variants 2, 5, 6, and 7 all encode the same isoform (2).
    Source sequence(s)
    AL590714
    Consensus CDS
    CCDS53404.1
    UniProtKB/Swiss-Prot
    O75306
    UniProtKB/TrEMBL
    B7Z792
    Related
    ENSP00000376018.4, ENST00000392179.4
    Conserved Domains (2) summary
    PRK06075
    Location:77457
    PRK06075; NADH dehydrogenase subunit D; Validated
    COG0649
    Location:77457
    NuoD; NADH:ubiquinone oxidoreductase 49 kD subunit (chain D) [Energy production and conversion]
  2. NM_001377298.1NP_001364227.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1 and 4, encodes isoform 1.
    Source sequence(s)
    AL590714
  3. NM_001377299.1NP_001364228.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1 and 3, encodes isoform 1.
    Source sequence(s)
    AL590714
  4. NM_001377300.1NP_001364229.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 2, 6, and 7, encodes isoform 2.
    Source sequence(s)
    AL590714
  5. NM_001377301.1NP_001364230.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 2, 5, and 7, encodes isoform 2.
    Source sequence(s)
    AL590714
  6. NM_001377302.1NP_001364231.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 2, 5, and 6, encodes isoform 2.
    Source sequence(s)
    AL590714
  7. NM_004550.4NP_004541.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_004541.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 3, and 4 all encode the same isoform (1).
    Source sequence(s)
    BC000170, BC008868
    Consensus CDS
    CCDS1224.1
    UniProtKB/Swiss-Prot
    O75306
    Related
    ENSP00000356972.3, ENST00000367993.7
    Conserved Domains (2) summary
    PRK06075
    Location:77463
    PRK06075; NADH dehydrogenase subunit D; Validated
    COG0649
    Location:77463
    NuoD; NADH:ubiquinone oxidoreductase 49 kD subunit (chain D) [Energy production and conversion]

RNA

  1. NR_165188.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL590714

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    161199315..161214395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245209.2XP_005245266.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform X1

    Conserved Domains (2) summary
    PRK06075
    Location:1365
    PRK06075; NADH dehydrogenase subunit D; Validated
    COG0649
    Location:1365
    NuoD; NADH:ubiquinone oxidoreductase 49 kD subunit (chain D) [Energy production and conversion]
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