The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is b... See more...

Aliases for NDUFB2 Gene

Aliases for NDUFB2 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B2 2 3 5
  • NADH-Ubiquinone Oxidoreductase AGGG Subunit 2 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 2, Mitochondrial 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 2, 8kDa 2 3
  • Complex I AGGG Subunit 2 3
  • Complex I-AGGG 3 4
  • CI-AGGG 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 2 (8kD, AGGG) 2
  • AGGG 3

External Ids for NDUFB2 Gene

Previous GeneCards Identifiers for NDUFB2 Gene

  • GC07P138667
  • GC07P139726
  • GC07P139803
  • GC07P139849
  • GC07P140042
  • GC07P140390
  • GC07P134692

Summaries for NDUFB2 Gene

Entrez Gene Summary for NDUFB2 Gene

  • The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]

GeneCards Summary for NDUFB2 Gene

NDUFB2 (NADH:Ubiquinone Oxidoreductase Subunit B2) is a Protein Coding gene. Diseases associated with NDUFB2 include Localized Chondrosarcoma and Cataract 34, Multiple Types. 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 NDUFB2 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.

Gene Wiki entry for NDUFB2 Gene

Additional gene information for NDUFB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFB2 Gene

Genomics for NDUFB2 Gene

GeneHancer (GH) Regulatory Elements for NDUFB2 Gene

Promoters and enhancers for NDUFB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFB2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB2

Top Transcription factor binding sites by QIAGEN in the NDUFB2 gene promoter:
  • AML1a
  • AP-1
  • Bach2
  • c-Fos
  • c-Jun
  • c-Myc
  • CREB
  • IRF-1
  • Max
  • RP58

Genomic Locations for NDUFB2 Gene

Genomic Locations for NDUFB2 Gene
chr7:140,690,777-140,722,790
(GRCh38/hg38)
Size:
32,014 bases
Orientation:
Plus strand
chr7:140,390,577-140,422,590
(GRCh37/hg19)
Size:
32,014 bases
Orientation:
Plus strand

Genomic View for NDUFB2 Gene

Genes around NDUFB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB2 Gene

Proteins for NDUFB2 Gene

  • Protein details for NDUFB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95178-NDUB2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial
    Protein Accession:
    O95178
    Secondary Accessions:
    • Q6FGI6

    Protein attributes for NDUFB2 Gene

    Size:
    105 amino acids
    Molecular mass:
    12058 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFB2 Gene

neXtProt entry for NDUFB2 Gene

Post-translational modifications for NDUFB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NDUFB2 Gene

Domains & Families for NDUFB2 Gene

Gene Families for NDUFB2 Gene

Protein Domains for NDUFB2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB2 Gene

GenScript: Design optimal peptide antigens:
  • NADH dehydrogenase (Ubiquinone) 1 beta subcomplex, 2, 8kDa, isoform CRA_a (A4D1T5_HUMAN)
  • NADH-ubiquinone oxidoreductase AGGG subunit (NDUB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95178

UniProtKB/Swiss-Prot:

NDUB2_HUMAN :
  • Belongs to the complex I NDUFB2 subunit family.
Family:
  • Belongs to the complex I NDUFB2 subunit family.
genes like me logo Genes that share domains with NDUFB2: view

Function for NDUFB2 Gene

Molecular function for NDUFB2 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.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),12.1kDa,component beta 2,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for NDUFB2 Gene

Gene Ontology (GO) - Molecular Function for NDUFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
genes like me logo Genes that share ontologies with NDUFB2: view
genes like me logo Genes that share phenotypes with NDUFB2: view

Animal Model Products

CRISPR Products

miRNA for NDUFB2 Gene

miRTarBase miRNAs that target NDUFB2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFB2 Gene

Localization for NDUFB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB2 Gene

Mitochondrion inner membrane; Peripheral 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 NDUFB2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS,IEA --
GO:0005747 mitochondrial respiratory chain complex I IEA,NAS 9878551
GO:0016020 membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFB2: view

Pathways & Interactions for NDUFB2 Gene

genes like me logo Genes that share pathways with NDUFB2: view

Gene Ontology (GO) - Biological Process for NDUFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFB2: view

No data available for SIGNOR curated interactions for NDUFB2 Gene

Drugs & Compounds for NDUFB2 Gene

(6) Drugs for NDUFB2 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 NDUFB2 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 NDUFB2: view

Transcripts for NDUFB2 Gene

mRNA/cDNA for NDUFB2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB2 Gene

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

Relevant External Links for NDUFB2 Gene

GeneLoc Exon Structure for
NDUFB2

Expression for NDUFB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFB2 Gene

This gene is overexpressed in Nasal epithelium (63.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NDUFB2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFB2

SOURCE GeneReport for Unigene cluster for NDUFB2 Gene:

Hs.655788

Evidence on tissue expression from TISSUES for NDUFB2 Gene

  • Lung(4.4)
  • Blood(4.3)
  • Nervous system(3.5)
  • Heart(2.4)
  • Muscle(2.4)
  • Liver(2.3)
  • Thyroid gland(2.3)
  • Kidney(2.1)
  • Adrenal gland(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with NDUFB2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB2 Gene

Orthologs for NDUFB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB2 31 30
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB2 31 30
  • 86.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB2 31 30
  • 85.4 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufb2 17 31 30
  • 81.9 (n)
rat
(Rattus norvegicus)
Mammalia Ndufb2 30
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFB2 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB2 30
  • 67.02 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFB2 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb2 30
  • 62.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia ndufb2-prov 30
zebrafish
(Danio rerio)
Actinopterygii zgc:73329 30
  • 60.48 (n)
NDUFB2 31
  • 51 (a)
OneToOne
Species where no ortholog for NDUFB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 NDUFB2 Gene

ENSEMBL:
Gene Tree for NDUFB2 (if available)
TreeFam:
Gene Tree for NDUFB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB2: view image

Paralogs for NDUFB2 Gene

(1) SIMAP similar genes for NDUFB2 Gene using alignment to 8 proteins:

  • NDUB2_HUMAN
  • A4D1T5_HUMAN
  • C9IZW8_HUMAN
  • C9IZZ2_HUMAN
  • C9JRV4_HUMAN
  • C9JXM4_HUMAN
  • F8WCJ6_HUMAN
  • H7C5B8_HUMAN

Pseudogenes.org Pseudogenes for NDUFB2 Gene

genes like me logo Genes that share paralogs with NDUFB2: view

No data available for Paralogs for NDUFB2 Gene

Variants for NDUFB2 Gene

Additional dbSNP identifiers (rs#s) for NDUFB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFB2 Gene

Variant ID Type Subtype PubMed ID
nsv1115016 CNV deletion 24896259
nsv831157 CNV gain 17160897
nsv831158 CNV loss 17160897

Variation tolerance for NDUFB2 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB2

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 NDUFB2 Gene

Disorders for NDUFB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFB2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
localized chondrosarcoma
cataract 34, multiple types
  • ctrct34
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFB2

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 NDUFB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFB2 Gene

Publications for NDUFB2 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. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 41 54
  5. 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

Products for NDUFB2 Gene

Sources for NDUFB2 Gene