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

Summary

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 inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (78068297..78079862, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (78001526..78013101, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (77779343..77790908, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3.
Title: NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH45705 (e-PCR)
- UniSTS:63012

SHGC-32876 (e-PCR)
- UniSTS:18727

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-34949 (e-PCR)
- UniSTS:34131

D11S2232E (e-PCR)
- UniSTS:43618

WI-11845 (e-PCR)
- UniSTS:75633

RH12275 (e-PCR)
- UniSTS:53886

RH80571 (e-PCR)
- UniSTS:85379

RH68571 (e-PCR)
- UniSTS:80270

SHGC-53311 (e-PCR)
- UniSTS:12180

RH47260 (e-PCR)
- UniSTS:79836

D11S4683 (e-PCR)
- UniSTS:15858

Readthrough NDUFC2-KCTD14

Readthrough gene: NDUFC2-KCTD14, Included gene: KCTD14

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 negative regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reactive oxygen species biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitochondrial membrane potential	IEA Inferred from Electronic Annotation more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton 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
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed

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

EC 7.1.1.2

NP_001190984.1

EC 7.1.1.2

NP_004540.1

EC 7.1.1.2

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)

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)
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)
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)