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Aliases for NDUFA4L2 Gene

Aliases for NDUFA4L2 Gene

  • NDUFA4 Mitochondrial Complex Associated Like 2 2 3
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 4-Like 2 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4-Like 2 2 3
  • NADH-Ubiquinone Oxidoreductase MLRQ Subunit Homolog 2 4
  • NDUFA4, Mitochondrial Complex Associated Like 2 2 5
  • NUOMS 3 4
  • NADH:Ubiquinone Oxidoreductase MLRQ Subunit Homolog 3

External Ids for NDUFA4L2 Gene

Previous GeneCards Identifiers for NDUFA4L2 Gene

  • GC12M055915
  • GC12M057629
  • GC12M054667

Summaries for NDUFA4L2 Gene

GeneCards Summary for NDUFA4L2 Gene

NDUFA4L2 (NDUFA4 Mitochondrial Complex Associated Like 2) is a Protein Coding gene. Diseases associated with NDUFA4L2 include Clear Cell Renal Cell Carcinoma. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. An important paralog of this gene is NDUFA4.

Additional gene information for NDUFA4L2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA4L2 Gene

Genomics for NDUFA4L2 Gene

GeneHancer (GH) Regulatory Elements for NDUFA4L2 Gene

Promoters and enhancers for NDUFA4L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057238 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.1 1074 4.4 SP1 ELF3 CTCF MNT ZNF148 NKRF MLLT1 CEBPG GTF2F1 ZNF687 NDUFA4L2 DTX3 NXPH4 ANKRD52 ENSG00000257740 NAB2 INHBE TSPAN31 MYO1A LRP1
GH12J057233 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 600.4 +5.3 5347 3.7 ZNF652 ZSCAN21 SP7 SP1 SP5 KLF14 PRDM1 EGR1 GLIS2 GMEB1 NDUFA4L2 EEF1AKMT3 NEMP1 MIR1228 CDK4 OS9 SHMT2 ENSG00000276727
GH12J057242 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -2.4 -2433 2 SP1 CC2D1A ZFX CTCF ZNF148 MLLT1 CDC5L ZBTB7A ZNF548 CREM GC12P057242 BAZ2A NEMP1 CTDSP2 RN7SL809P CDK4 RNU6-343P STAT2 EEF1AKMT3 ARHGAP9
GH12J057170 Enhancer 0.4 ENCODE dbSUPER 11.2 +69.1 69121 1.5 LRP1 MIR1228 STAT6 NDUFA4L2 INHBE GLI1 GC12P057183 PIR32415 LRP1-AS
GH12J057228 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.4 +10.2 10224 3.5 HDGF SP1 ZFX ZKSCAN8 MNT SIX5 ZNF148 NKRF POLR2A CEBPG ENSG00000276727 SHMT2 MIR1228 STAT6 ENSG00000224713 NDUFA4L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA4L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA4L2 gene promoter:
  • AREB6
  • CUTL1
  • GATA-1
  • HOXA3
  • HOXA5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Spz1

Genomic Locations for NDUFA4L2 Gene

Genomic Locations for NDUFA4L2 Gene
chr12:57,234,903-57,240,762
(GRCh38/hg38)
Size:
5,860 bases
Orientation:
Minus strand
chr12:57,628,686-57,634,545
(GRCh37/hg19)
Size:
5,860 bases
Orientation:
Minus strand

Genomic View for NDUFA4L2 Gene

Genes around NDUFA4L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA4L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA4L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA4L2 Gene

Proteins for NDUFA4L2 Gene

  • Protein details for NDUFA4L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRX3-NUA4L_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2
    Protein Accession:
    Q9NRX3
    Secondary Accessions:
    • Q6IAH9

    Protein attributes for NDUFA4L2 Gene

    Size:
    87 amino acids
    Molecular mass:
    9966 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NDUFA4L2 Gene

Post-translational modifications for NDUFA4L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFA4L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA4L2 Gene

Domains & Families for NDUFA4L2 Gene

Gene Families for NDUFA4L2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for NDUFA4L2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA4L2 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase MLRQ subunit homolog (NUA4L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRX3

UniProtKB/Swiss-Prot:

NUA4L_HUMAN :
  • Belongs to the complex I NDUFA4 subunit family.
Family:
  • Belongs to the complex I NDUFA4 subunit family.
genes like me logo Genes that share domains with NDUFA4L2: view

Function for NDUFA4L2 Gene

Phenotypes From GWAS Catalog for NDUFA4L2 Gene

Gene Ontology (GO) - Molecular Function for NDUFA4L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 contributes_to cytochrome-c oxidase activity IBA 21873635
genes like me logo Genes that share ontologies with NDUFA4L2: view
genes like me logo Genes that share phenotypes with NDUFA4L2: view

Animal Model Products

CRISPR Products

miRNA for NDUFA4L2 Gene

miRTarBase miRNAs that target NDUFA4L2

Clone Products

  • Applied Biological Materials (abm): Clones for NDUFA4L2 - Now 50% OFF >
  • * NDUFA4L2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NDUFA4L2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA4L2 Gene

Localization for NDUFA4L2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFA4L2 gene
Compartment Confidence
mitochondrion 4
extracellular 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFA4L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005751 mitochondrial respiratory chain complex IV IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDUFA4L2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NDUFA4L2 Gene

Pathways & Interactions for NDUFA4L2 Gene

genes like me logo Genes that share pathways with NDUFA4L2: view

Pathways by source for NDUFA4L2 Gene

Interacting Proteins for NDUFA4L2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000377411%0d9606.ENSP00000339720%0d9606.ENSP00000309591%0d9606.ENSP00000359719%0d9606.ENSP00000366488%0d9606.ENSP00000016171%0d
Selected Interacting proteins: ENSP00000377411 Q9NRX3-NUA4L_HUMAN for NDUFA4L2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for NDUFA4L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022900 electron transport chain IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with NDUFA4L2: view

No data available for SIGNOR curated interactions for NDUFA4L2 Gene

Drugs & Compounds for NDUFA4L2 Gene

(6) Drugs for NDUFA4L2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1426
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFA4L2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFA4L2: view

Transcripts for NDUFA4L2 Gene

mRNA/cDNA for NDUFA4L2 Gene

Unigene Clusters for NDUFA4L2 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for NDUFA4L2 - Now 50% OFF >
  • * NDUFA4L2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NDUFA4L2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA4L2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6:

Relevant External Links for NDUFA4L2 Gene

GeneLoc Exon Structure for
NDUFA4L2
ECgene alternative splicing isoforms for
NDUFA4L2

Expression for NDUFA4L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFA4L2 Gene

mRNA differential expression in normal tissues according to GTEx for NDUFA4L2 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.5).

Protein differential expression in normal tissues from HIPED for NDUFA4L2 Gene

This gene is overexpressed in Monocytes (35.8), Tlymphocyte (13.7), and Retina (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFA4L2 Gene



Protein tissue co-expression partners for NDUFA4L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NDUFA4L2 Gene:

NDUFA4L2

SOURCE GeneReport for Unigene cluster for NDUFA4L2 Gene:

Hs.75069

Evidence on tissue expression from TISSUES for NDUFA4L2 Gene

  • Muscle(4.3)
  • Adrenal gland(4.2)
genes like me logo Genes that share expression patterns with NDUFA4L2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA4L2 Gene

Orthologs for NDUFA4L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA4L2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFA4L2 35 34
  • 91.95 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFA4L2 35 34
  • 90.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa4l2 34
  • 90.04 (n)
mouse
(Mus musculus)
Mammalia Ndufa4l2 17 35 34
  • 88.89 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA4L2 35
  • 92 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ndufa4l2a 34
  • 67.57 (n)
ndufa4l2 35
  • 59 (a)
OneToMany
NDUFA4L2 (1 of 2) 35
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32230 35
  • 37 (a)
OneToMany
Species where no ortholog for NDUFA4L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFA4L2 Gene

ENSEMBL:
Gene Tree for NDUFA4L2 (if available)
TreeFam:
Gene Tree for NDUFA4L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA4L2: view image

Paralogs for NDUFA4L2 Gene

Paralogs for NDUFA4L2 Gene

(3) SIMAP similar genes for NDUFA4L2 Gene using alignment to 2 proteins:

  • NUA4L_HUMAN
  • G3V560_HUMAN
genes like me logo Genes that share paralogs with NDUFA4L2: view

Variants for NDUFA4L2 Gene

Sequence variations from dbSNP and Humsavar for NDUFA4L2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000009426 -- 57,236,389(-) G/T intron_variant
rs1000374107 -- 57,239,056(-) C/G/T intron_variant
rs1000613648 -- 57,235,378(-) C/G/T 3_prime_UTR_variant
rs1000734887 -- 57,240,202(-) C/T intron_variant
rs1000850852 -- 57,239,309(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA4L2 Gene

Variant ID Type Subtype PubMed ID
dgv96n21 CNV loss 19592680
nsv482992 CNV gain+loss 15286789
nsv519293 CNV loss 19592680
nsv952189 CNV deletion 24416366

Variation tolerance for NDUFA4L2 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA4L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA4L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA4L2 Gene

Disorders for NDUFA4L2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NDUFA4L2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
clear cell renal cell carcinoma
  • clear cell carcinoma of kidney
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFA4L2

genes like me logo Genes that share disorders with NDUFA4L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFA4L2 Gene

Publications for NDUFA4L2 Gene

  1. NDUFA4L2 protects against ischaemia/reperfusion-induced cardiomyocyte apoptosis and mitochondrial dysfunction by inhibiting complex I. (PMID: 28429857) Li J … Long J (Clinical and experimental pharmacology & physiology 2017) 2 3 58
  2. Induction of the mitochondrial NDUFA4L2 protein by HIF-1α decreases oxygen consumption by inhibiting Complex I activity. (PMID: 22100406) Tello D … Landázuri MO (Cell metabolism 2011) 2 3 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58
  5. Induction of the mitochondrial NDUFA4L2 protein by HIF-1a regulates heart regeneration by promoting the survival of cardiac stem cell. (PMID: 29953852) Zheng J … Weng H (Biochemical and biophysical research communications 2018) 3 58

Products for NDUFA4L2 Gene

Sources for NDUFA4L2 Gene

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