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NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 [ Homo sapiens (human) ]

Gene ID: 56901, updated on 5-Mar-2024

Summary

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Official Symbol
NDUFA4L2provided by HGNC
Official Full Name
NDUFA4 mitochondrial complex associated like 2provided by HGNC
Primary source
HGNC:HGNC:29836
See related
Ensembl:ENSG00000185633 AllianceGenome:HGNC:29836
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
NUOMS; MISTRH; COXFA4L2
Summary
Predicted to be integral component of membrane. Predicted to be part of mitochondrial respiratory chain complex IV. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in skin (RPKM 38.4), esophagus (RPKM 35.8) and 15 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57234903..57240762, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57203141..57209000, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57628686..57634545, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LDL receptor related protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57608455-57608977 Neighboring gene microRNA 1228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57609975-57610474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57610622-57611230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57611231-57611837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57617093-57617999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57624967-57625547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57625548-57626129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57626711-57627291 Neighboring gene Sharpr-MPRA regulatory region 225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57631624-57632226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57633295-57634200 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr12:57636011-57636914 Neighboring gene neurexophilin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6534 Neighboring gene serine hydroxymethyltransferase 2 Neighboring gene Sharpr-MPRA regulatory region 5413 Neighboring gene SH3 and cysteine rich domain 3 Neighboring gene R3H domain containing 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:57673563-57674762 Neighboring gene Sharpr-MPRA regulatory region 11351 Neighboring gene Sharpr-MPRA regulatory region 7317 Neighboring gene RNA, U6 small nuclear 879, 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. NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma. Kubala JM, et al. Cancer Biol Ther, 2023 Dec 31. PMID 36722045, Free PMC Article
  2. NDUFA4L2 promotes glioblastoma progression, is associated with poor survival, and can be effectively targeted by apatinib. Chen Z, et al. Cell Death Dis, 2021 Apr 7. PMID 33828084, Free PMC Article
  3. Integrated multi-omics characterization reveals a distinctive metabolic signature and the role of NDUFA4L2 in promoting angiogenesis, chemoresistance, and mitochondrial dysfunction in clear cell renal cell carcinoma. Lucarelli G, et al. Aging (Albany NY), 2018 Dec 11. PMID 30538212, Free PMC Article
  4. NDUFA4L2 expression predicts poor prognosis in clear cell renal cell carcinoma patients. Liu L, et al. Ren Fail, 2016 Sep. PMID 27453328
  5. Overexpression of NDUFA4L2 is associated with poor prognosis in patients with colorectal cancer. Lv Y, et al. ANZ J Surg, 2017 Dec. PMID 27226356

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib resistance by decreasing reactive oxygen species in hepatocellular carcinoma.
    Title: Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib resistance by decreasing reactive oxygen species in hepatocellular carcinoma.
  2. Unique expression of the atypical mitochondrial subunit NDUFA4L2 in cerebral pericytes fine tunes HIF activity in response to hypoxia.
    Title: Unique expression of the atypical mitochondrial subunit NDUFA4L2 in cerebral pericytes fine tunes HIF activity in response to hypoxia.
  3. NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma.
    Title: NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma.
  4. NDUFA4L2 promotes glioblastoma progression, is associated with poor survival, and can be effectively targeted by apatinib.
    Title: NDUFA4L2 promotes glioblastoma progression, is associated with poor survival, and can be effectively targeted by apatinib.
  5. NDUFA4L2 in smooth muscle promotes vascular remodeling in hypoxic pulmonary arterial hypertension.
    Title: NDUFA4L2 in smooth muscle promotes vascular remodeling in hypoxic pulmonary arterial hypertension.
  6. Evaluating the clinical significance of SHMT2 and its co-expressed gene in human kidney cancer.
    Title: Evaluating the clinical significance of SHMT2 and its co-expressed gene in human kidney cancer.
  7. Study showed that mitochondrial NDUFA4L2 was overexpressed in non-small cell lung cancer (NSCLC) tumor tissues. NDUFA4L2 was also overexpressed in NSCLC cell lines cultured in hypoxic conditions. Its expression is regulated by HIF1A.
    Title: Mitochondrial NDUFA4L2 protein promotes the vitality of lung cancer cells by repressing oxidative stress.
  8. This study identified NDUFA4L2 as the most highly expressed gene in renal cancer cells and evaluated its role in sustaining angiogenesis, chemoresistance, and mitochondrial dysfunction.
    Title: Integrated multi-omics characterization reveals a distinctive metabolic signature and the role of NDUFA4L2 in promoting angiogenesis, chemoresistance, and mitochondrial dysfunction in clear cell renal cell carcinoma.
  9. hypoxia promotes the viability of cardiac stem cells in serum-free medium by HIF-1alpha/NDUFA4L2 signaling pathway.
    Title: Induction of the mitochondrial NDUFA4L2 protein by HIF-1a regulates heart regeneration by promoting the survival of cardiac stem cell.
  10. This study has provided the first clinical relevance of NDUFA4L2 in human cancer, and since NDUFA4L2 was HIF1-regulated in Hepatocellular carcinoma cells, suggested that Hepatocellular carcinoma patients with NDUFA4L2 overexpression may be suitable candidates for HIF inhibitor treatment.
    Title: NDUFA4L2 Fine-tunes Oxidative Stress in Hepatocellular Carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

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

Homology

Clone Names

  • FLJ26118

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of mitochondrial respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2
Names
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2
NADH:ubiquinone oxidoreductase MLRQ subunit homolog
cytochrome c oxidase subunit FA4 like 2
mitochondrial stress response hypoxia

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_001394960.1 → NP_001381889.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2

    Status: VALIDATED

    Source sequence(s)
    AC137834
    Consensus CDS
    CCDS8935.1
    UniProtKB/Swiss-Prot
    Q6IAH9, Q9NRX3
    Related
    ENSP00000377411.1, ENST00000393825.5
    Conserved Domains (1) summary
    pfam06522
    Location:16 → 84
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

  2. NM_001394961.1 → NP_001381890.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2

    Status: VALIDATED

    Source sequence(s)
    AC137834
    Consensus CDS
    CCDS8935.1
    UniProtKB/Swiss-Prot
    Q6IAH9, Q9NRX3
    Related
    ENSP00000450664.1, ENST00000554503.6
    Conserved Domains (1) summary
    pfam06522
    Location:16 → 84
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

  3. NM_020142.4 → NP_064527.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2

    See identical proteins and their annotated locations for NP_064527.1

    Status: VALIDATED

    Source sequence(s)
    AC137834
    Consensus CDS
    CCDS8935.1
    UniProtKB/Swiss-Prot
    Q6IAH9, Q9NRX3
    Conserved Domains (1) summary
    pfam06522
    Location:16 → 84
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57234903..57240762 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57203141..57209000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRX3.1 GenPept UniProtKB/Swiss-Prot:Q9NRX3

Gene LinkOut

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