This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009] See more...

Aliases for NDUFB4 Gene

Aliases for NDUFB4 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B4 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 4 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 4, 15kDa 2 3
  • NADH-Ubiquinone Oxidoreductase B15 Subunit 3 4
  • Complex I B15 Subunit 2 3
  • Complex I-B15 3 4
  • CI-B15 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 4 (15kD, B15) 2
  • B15 3

External Ids for NDUFB4 Gene

Previous GeneCards Identifiers for NDUFB4 Gene

  • GC03P116949
  • GC03P119956
  • GC03P121596
  • GC03P121636
  • GC03P121797
  • GC03P120315
  • GC03P117688

Summaries for NDUFB4 Gene

Entrez Gene Summary for NDUFB4 Gene

  • This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]

GeneCards Summary for NDUFB4 Gene

NDUFB4 (NADH:Ubiquinone Oxidoreductase Subunit B4) is a Protein Coding gene. Diseases associated with NDUFB4 include Hyperhidrosis, Gustatory and Ophthalmia Nodosa. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFB4 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Additional gene information for NDUFB4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFB4 Gene

Genomics for NDUFB4 Gene

GeneHancer (GH) Regulatory Elements for NDUFB4 Gene

Promoters and enhancers for NDUFB4 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
GH03J120595 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 507.5 +0.4 385 2.7 ZNF217 TCF12 NRF1 POLR2G PHF8 ZFX POLR2A TGIF2 TEAD1 ZBTB26 NDUFB4 FSTL1 GTF2E1 RABL3 piR-54627-002
GH03J120594 Enhancer 0.3 Ensembl 500.7 -1.6 -1580 0.2 ZBTB33 NDUFB4 RPL34P9 lnc-NDUFB4-3
GH03J120641 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +47.0 47019 6.2 TCF12 POLR2G TARDBP MYC JUN TAF9B NCOR1 NFRKB NEUROD1 ZNF316 NDUFB4 HGD GTF2E1 RABL3 FSTL1 ENSG00000240661 HSALNG0028402 piR-61365-009
GH03J120637 Enhancer 0.7 Ensembl dbSUPER 11.8 +41.3 41319 1.6 POLR2G CEBPB RBM22 SPI1 POLR2A RXRA HNF4A YY1 HNF4G SP1 NDUFB4 HGD HSALNG0028402 piR-61365-009
GH03J120572 Enhancer 0.6 Ensembl 6.3 -24.1 -24080 0.4 NCOR1 ZNF592 NR2F1 TFDP1 L3MBTL2 ESRRA NR2C1 IKZF1 EP300 SOX6 HGD NDUFB4 lnc-NDUFB4-3 RPL34P9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFB4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB4

Top Transcription factor binding sites by QIAGEN in the NDUFB4 gene promoter:
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • POU2F1
  • POU2F1a
  • POU3F2 (N-Oct-5b)

Genomic Locations for NDUFB4 Gene

Genomic Locations for NDUFB4 Gene
chr3:120,596,281-120,602,507
(GRCh38/hg38)
Size:
6,227 bases
Orientation:
Plus strand
chr3:120,315,128-120,321,347
(GRCh37/hg19)
Size:
6,220 bases
Orientation:
Plus strand

Genomic View for NDUFB4 Gene

Genes around NDUFB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB4 Gene

Proteins for NDUFB4 Gene

  • Protein details for NDUFB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95168-NDUB4_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4
    Protein Accession:
    O95168
    Secondary Accessions:
    • B2RUY3
    • B9EJC7

    Protein attributes for NDUFB4 Gene

    Size:
    129 amino acids
    Molecular mass:
    15209 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFB4 Gene

    Alternative splice isoforms for NDUFB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFB4 Gene

Post-translational modifications for NDUFB4 Gene

  • Ubiquitination at Lys5
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFB4 Gene

No data available for DME Specific Peptides for NDUFB4 Gene

Domains & Families for NDUFB4 Gene

Gene Families for NDUFB4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NDUFB4 Gene

Blocks:
  • NADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB4 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B15 subunit (NDUB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95168

UniProtKB/Swiss-Prot:

NDUB4_HUMAN :
  • Belongs to the complex I NDUFB4 subunit family.
Family:
  • Belongs to the complex I NDUFB4 subunit family.
genes like me logo Genes that share domains with NDUFB4: view

Function for NDUFB4 Gene

Molecular function for NDUFB4 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Phenotypes From GWAS Catalog for NDUFB4 Gene

Gene Ontology (GO) - Molecular Function for NDUFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,IEA 9878551
genes like me logo Genes that share ontologies with NDUFB4: view
genes like me logo Genes that share phenotypes with NDUFB4: view

Animal Model Products

CRISPR Products

miRNA for NDUFB4 Gene

miRTarBase miRNAs that target NDUFB4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFB4 Gene

Localization for NDUFB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB4 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

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 NDUFB4 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDUFB4: view

Pathways & Interactions for NDUFB4 Gene

genes like me logo Genes that share pathways with NDUFB4: view

Gene Ontology (GO) - Biological Process for NDUFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0006979 response to oxidative stress IDA 12857734
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFB4: view

No data available for SIGNOR curated interactions for NDUFB4 Gene

Drugs & Compounds for NDUFB4 Gene

(6) Drugs for NDUFB4 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 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFB4 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 NDUFB4: view

Transcripts for NDUFB4 Gene

mRNA/cDNA for NDUFB4 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB4 Gene

No ASD Table

Relevant External Links for NDUFB4 Gene

GeneLoc Exon Structure for
NDUFB4

Expression for NDUFB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFB4 Gene

This gene is overexpressed in Heart (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFB4 Gene



Protein tissue co-expression partners for NDUFB4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFB4

SOURCE GeneReport for Unigene cluster for NDUFB4 Gene:

Hs.304613

Evidence on tissue expression from TISSUES for NDUFB4 Gene

  • Nervous system(4.6)
  • Heart(2.7)
  • Muscle(2.7)
  • Blood(2.2)
  • Intestine(2.2)
  • Liver(2.1)
  • Skin(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with NDUFB4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB4 Gene

Orthologs for NDUFB4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB4 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB4 31 30
  • 84.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB4 31 30
  • 82.69 (n)
OneToMany
-- 31
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ndufb4 30
  • 78.29 (n)
mouse
(Mus musculus)
Mammalia Gm3244 30
  • 78.29 (n)
Ndufb4 31
  • 75 (a)
OneToOne
Ndufb4c 17
oppossum
(Monodelphis domestica)
Mammalia NDUFB4 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB4 31 30
  • 64.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB4 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb4 30
  • 60.8 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufb4 30
  • 59.62 (n)
Species where no ortholog for NDUFB4 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFB4 Gene

ENSEMBL:
Gene Tree for NDUFB4 (if available)
TreeFam:
Gene Tree for NDUFB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB4: view image

Paralogs for NDUFB4 Gene

No data available for Paralogs for NDUFB4 Gene

Variants for NDUFB4 Gene

Additional dbSNP identifiers (rs#s) for NDUFB4 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFB4 Gene

Variant ID Type Subtype PubMed ID
esv3307731 CNV mobile element insertion 20981092
esv3339199 CNV insertion 20981092
esv3345242 CNV insertion 20981092
esv3362822 CNV insertion 20981092
nsv508238 CNV deletion 20534489
nsv829699 CNV loss 17160897

Variation tolerance for NDUFB4 Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFB4 Gene

Human Gene Mutation Database (HGMD)
NDUFB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFB4 Gene

Disorders for NDUFB4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFB4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hyperhidrosis, gustatory
  • hyprg
ophthalmia nodosa
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFB4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFB4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFB4 Gene

Publications for NDUFB4 Gene

  1. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PMID: 9878551) Loeffen JL … Smeitink JA (Biochemical and biophysical research communications 1998) 2 3 4 54
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. 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 54
  5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J … Capaldi RA (The Journal of biological chemistry 2003) 3 4 54

Products for NDUFB4 Gene

Sources for NDUFB4 Gene