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

Summary

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; AllianceGenome:HGNC:7685
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; MC1DN13
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: mouse all
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Genomic context

Location:: 5q31.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (140645285..140647630, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (141170692..141173036, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (140024870..140027215, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Review of a biorepository of patients with unsolved genetic leukoencephalopathies who underwent whole-exome or genome sequencing allowed us to identify a second patient with compound heterozygous mutations in NDUFA2. Only 1 other patient with mutations in NDUFA2 and a different phenotype (Leigh syndrome) has previously been reported. This is the first report of cystic leukoencephalopathy caused by mutations in NDUFA2.
Title: Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
A novel mechanism of lipoteichoic acid (LTA)-induced cytokine induction in human peripheral blood cells involves uptake of LTA and subsequent intracellular recognition driven by Toll-like receptor (TLR)2, TLR6, and CD14.
Title: Internalization and coreceptor expression are critical for TLR2-mediated recognition of lipoteichoic acid in human peripheral blood.
solution structure shows a thioredoxin fold with highest similarities to the human thioredoxin mutant C73S and thioredoxin 2 from Anabeana sp
Title: The oxidized subunit B8 from human complex I adopts a thioredoxin fold.

Submit: New GeneRIF Correction

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 13 MedGen: C4748770 OMIM: 618235 GeneReviews: Not available	Compare labs

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

RH78886 (e-PCR)
- UniSTS:31828

G33038 (e-PCR)
- UniSTS:117615

RH78253 (e-PCR)
- UniSTS:72387

A010A06 (e-PCR)
- UniSTS:63454

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in blastocyst hatching	IEA Inferred from Electronic Annotation more info
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 proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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 mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
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 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

EC 7.1.1.2

NP_002479.1

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.

Genomic

NG_021417.1 RefSeqGene

Range

5156..7501

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185012.2 → NP_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, BQ054127

Consensus CDS

CCDS54911.1

UniProtKB/Swiss-Prot

O43678

Related

ENSP00000427220.1, ENST00000512088.1

Conserved Domains (1) summary

smart00916
Location:28 → 69

L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
NM_002488.5 → NP_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

D6RJD6, O43678, Q6IAY8

Related

ENSP00000252102.5, ENST00000252102.9

Conserved Domains (1) summary

smart00916
Location:28 → 97

L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

RNA

NR_033697.2 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