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

    Gene ID: 56901, updated on 2-Nov-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
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See NDUFA4L2 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57234903..57240762, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57203141..57209000, complement)
    RS_2024_09 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 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. Overexpression of NDUFA4L2 is associated with poor prognosis in patients with colorectal cancer. Lv Y, et al. ANZ J Surg, 2017 Dec. PMID 27226356
    3. NDUFA4L2 expression predicts poor prognosis in clear cell renal cell carcinoma patients. Liu L, et al. Ren Fail, 2016 Sep. PMID 27453328
    4. NDUFA4L2 Fine-tunes Oxidative Stress in Hepatocellular Carcinoma. Lai RK, et al. Clin Cancer Res, 2016 Jun 15. PMID 26819450
    5. Role of NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex 4-Like 2 in Clear Cell Renal Cell Carcinoma. Minton DR, et al. Clin Cancer Res, 2016 Jun 1. PMID 26783287, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pancancer analysis of NDUFA4L2 with focused role in tumor progression and metastasis of colon adenocarcinoma.
      Title: Pancancer analysis of NDUFA4L2 with focused role in tumor progression and metastasis of colon adenocarcinoma.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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
    located_in mitochondrion HTP PubMed 
    part_of 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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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