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NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 [ Homo sapiens (human) ]

Gene ID: 4718, updated on 11-Apr-2024

Summary

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Official Symbol
NDUFC2provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit C2provided by HGNC
Primary source
HGNC:HGNC:7706
See related
Ensembl:ENSG00000151366 MIM:603845; AllianceGenome:HGNC:7706
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLC-1; B14.5b; MC1DN36; NADHDH2; CI-B14.5b
Summary
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues See more
Orthologs
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Genomic context

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See NDUFC2 in Genome Data Viewer
Location:
11q14.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78068297..78079862, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78001526..78013101, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77779343..77790908, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene adipogenesis associated Mth938 domain containing Neighboring gene integrator complex subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77643873-77644620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77644621-77645367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3804 Neighboring gene MPRA-validated peak1367 silencer Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77727696-77728196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733111-77733678 Neighboring gene uncharacterized LOC124902723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733679-77734248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77734249-77734816 Neighboring gene Sharpr-MPRA regulatory region 11011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77741282-77741794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3805 Neighboring gene Sharpr-MPRA regulatory region 10650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77750634-77751590 Neighboring gene potassium channel tetramerization domain containing 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5313 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:77790891-77791080 Neighboring gene uncharacterized LOC105369401 Neighboring gene thyroid hormone responsive Neighboring gene Sharpr-MPRA regulatory region 11448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77840054-77840872 Neighboring gene ALG8 alpha-1,3-glucosyltransferase Neighboring gene RNA, U6 small nuclear 126, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. Alahmad A, et al. EMBO Mol Med, 2020 Nov 6. PMID 32969598, Free PMC Article
  2. The reduction of NDUFC2 expression is associated with mitochondrial impairment in circulating mononuclear cells of patients with acute coronary syndrome. Raffa S, et al. Int J Cardiol, 2019 Jul 1. PMID 30808603
  3. In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit. Raffa S, et al. Hum Mol Genet, 2017 Dec 1. PMID 28973657, Free PMC Article
  4. Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease. Rubattu S, et al. J Am Heart Assoc, 2016 Feb 17. PMID 26888427, Free PMC Article
  5. Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma. Igci YZ, et al. Exp Oncol, 2015 Mar. PMID 25804238

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3.
    Title: NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3.
  2. Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension.
    Title: Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension.
  3. Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
    Title: Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
  4. A significant reduction of NDUFC2 expression is detected in ACS. In vitro, NDUFC2 silencing affects vascular cell viability and angiogenesis while stimulating the expression of markers of plaque rupture. Our observations suggest that these mechanisms may contribute to ACS development.
    Title: The reduction of NDUFC2 expression is associated with mitochondrial impairment in circulating mononuclear cells of patients with acute coronary syndrome.
  5. Authors found that both fibroblasts obtained from skin of heterozygous Ndufc2 knock-out rat model showed marked mitochondrial dysfunction and human PBMC homozygous for the TT genotype of the rs11237379/NDUFC2 variant, previously shown to associate with reduced gene expression, demonstrated increased generation of reactive oxygen species and mitochondrial damage.
    Title: In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.
  6. Ndufc2 SNPs can contribute to an increased occurrence of early-onset ischemic stroke in humans.
    Title: Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease.
  7. Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma is reported. There was no NDUFC2 differential expression in colorectal carcinoma.
    Title: Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma.
  8. DNA methylation of genes in retinol metabolism and calcium signaling pathways (P < 3 x 10-6) and with known functions in muscle and T2D including MEF2A, RUNX1, NDUFC2, and THADA decreased after exercise
    Title: Impact of an exercise intervention on DNA methylation in skeletal muscle from first-degree relatives of patients with type 2 diabetes.
  9. NDUFC2 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma.
    Title: Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.
  10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 36
MedGen: C5436935 OMIM: 619170 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough NDUFC2-KCTD14

Readthrough gene: NDUFC2-KCTD14, Included gene: KCTD14

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in aerobic respiration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proton motive force-driven mitochondrial ATP synthesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] 1 subunit C2
Names
NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa
NADH-ubiquinone oxidoreductase subunit B14.5b
complex I subunit B14.5b
complex I-B14.5b
human lung cancer oncogene 1 protein
NP_001190983.1
NP_001190984.1
NP_004540.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001204054.3 → NP_001190983.1  NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses alternate splice sites in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF087899, AK098173, AP003032, CA414824
    Consensus CDS
    CCDS55781.1
    UniProtKB/Swiss-Prot
    O95298
    Related
    ENSP00000432739.1, ENST00000527806.1
    Conserved Domains (1) summary
    pfam06374
    Location:10 → 80
    NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)

  2. NM_001204055.2 → NP_001190984.1  NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice sites in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF087899, AP003032, BE740715, CA414824
    Consensus CDS
    CCDS55779.1
    UniProtKB/Swiss-Prot
    O95298
    Related
    ENSP00000434262.1, ENST00000525085.1
    Conserved Domains (1) summary
    pfam06374
    Location:10 → 96
    NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)

  3. NM_004549.6 → NP_004540.1  NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 1

    See identical proteins and their annotated locations for NP_004540.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF087899, AK022785, AP003032, CA414824
    Consensus CDS
    CCDS8257.1
    UniProtKB/Swiss-Prot
    E9PNU8, E9PRB2, O95298, Q549M5, Q6FIH8, Q9UBJ9
    UniProtKB/TrEMBL
    E9PM14
    Related
    ENSP00000281031.4, ENST00000281031.5
    Conserved Domains (1) summary
    pfam06374
    Location:10 → 119
    NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    78068297..78079862 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    78001526..78013101 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95298.1 GenPept UniProtKB/Swiss-Prot:O95298

Gene LinkOut

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