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Aliases for ETFB Gene

Aliases for ETFB Gene

  • Electron-Transfer-Flavoprotein, Beta Polypeptide 2 3
  • Beta-ETF 3 4
  • MADD 3 6
  • Electron-Transferring-Flavoprotein, Beta Polypeptide 3
  • Electron Transfer Flavoprotein, Beta Polypeptide 3
  • Electron Transfer Flavoprotein Beta Subunit 3
  • Electron Transfer Flavoprotein Beta-Subunit 3
  • Electron Transfer Flavoprotein Subunit Beta 3
  • FP585 3

External Ids for ETFB Gene

Previous GeneCards Identifiers for ETFB Gene

  • GC19M052478
  • GC19M052209
  • GC19M056524
  • GC19M056540
  • GC19M051848
  • GC19M048180

Summaries for ETFB Gene

Entrez Gene Summary for ETFB Gene

  • This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ETFB Gene

ETFB (Electron-Transfer-Flavoprotein, Beta Polypeptide) is a Protein Coding gene. Diseases associated with ETFB include multiple acyl-coa dehydrogenation deficiency, mild type and multiple acyl-coa dehydrogenation deficiency, severe neonatal type. Among its related pathways are Metabolism and Apoptosis and survival Caspase cascade. GO annotations related to this gene include electron carrier activity.

UniProtKB/Swiss-Prot for ETFB Gene

  • The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

Gene Wiki entry for ETFB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFB Gene

Genomics for ETFB Gene

Regulatory Elements for ETFB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ETFB Gene

Start:
51,345,155 bp from pter
End:
51,366,418 bp from pter
Size:
21,264 bases
Orientation:
Minus strand

Genomic View for ETFB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ETFB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETFB Gene

Proteins for ETFB Gene

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

    Protein Symbol:
    P38117-ETFB_HUMAN
    Recommended name:
    Electron transfer flavoprotein subunit beta
    Protein Accession:
    P38117
    Secondary Accessions:
    • A8K766
    • B3KNY2
    • Q6IBH7
    • Q71RF6
    • Q9Y3S7

    Protein attributes for ETFB Gene

    Size:
    255 amino acids
    Molecular mass:
    27844 Da
    Cofactor:
    Name=AMP; Xref=ChEBI:CHEBI:456215; Note=Binds 1 AMP per subunit.;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD per dimer.;
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit.

    Three dimensional structures from OCA and Proteopedia for ETFB Gene

    Alternative splice isoforms for ETFB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFB Gene

Proteomics data for ETFB Gene at MOPED

Post-translational modifications for ETFB Gene

  • Ubiquitination at Lys35
  • Modification sites at PhosphoSitePlus

Other Protein References for ETFB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ETFB Gene

Domains for ETFB Gene

Suggested Antigen Peptide Sequences for ETFB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P38117

UniProtKB/Swiss-Prot:

ETFB_HUMAN :
  • P38117
Domain:
  • The recognition loop recognizes a hydrophobic patch at the surface of interacting dehydrogenases and acts as a static anchor at the interface.
Family:
  • Belongs to the ETF beta-subunit/FixA family.
genes like me logo Genes that share domains with ETFB: view

No data available for Gene Families for ETFB Gene

Function for ETFB Gene

Molecular function for ETFB Gene

GENATLAS Biochemistry: electron transfer flavoprotein,beta (27kDa)
UniProtKB/Swiss-Prot Function: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

Gene Ontology (GO) - Molecular Function for ETFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity IEA --
genes like me logo Genes that share ontologies with ETFB: view

Phenotypes for ETFB Gene

genes like me logo Genes that share phenotypes with ETFB: view

Animal Model Products

CRISPR Products

miRNA for ETFB Gene

miRTarBase miRNAs that target ETFB

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ETFB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ETFB Gene

Localization for ETFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFB Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ETFB Gene COMPARTMENTS Subcellular localization image for ETFB gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ETFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ETFB: view

Pathways for ETFB Gene

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

Gene Ontology (GO) - Biological Process for ETFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ETFB: view

Compounds for ETFB Gene

(1) HMDB Compounds for ETFB Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5

(1) Novoseek inferred chemical compound relationships for ETFB Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 67.7 2
genes like me logo Genes that share compounds with ETFB: view

Transcripts for ETFB Gene

Unigene Clusters for ETFB Gene

Electron-transfer-flavoprotein, beta polypeptide:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ETFB

Primer Products

Flow Cytometry Products

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

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

Relevant External Links for ETFB Gene

GeneLoc Exon Structure for
ETFB
ECgene alternative splicing isoforms for
ETFB

Expression for ETFB Gene

mRNA expression in normal human tissues for ETFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ETFB Gene

SOURCE GeneReport for Unigene cluster for ETFB Gene Hs.348531

mRNA Expression by UniProt/SwissProt for ETFB Gene

P38117-ETFB_HUMAN
Tissue specificity: Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain, placenta, lung, kidney and pancreas
genes like me logo Genes that share expressions with ETFB: view

In Situ Assay Products

Orthologs for ETFB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETFB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETFB 36
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETFB 35
  • 91.37 (n)
  • 96.47 (a)
ETFB 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETFB 35
  • 90.46 (n)
  • 94.51 (a)
ETFB 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Etfb 35
  • 87.71 (n)
  • 92.16 (a)
Etfb 16
Etfb 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ETFB 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETFB 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etfb 35
  • 86.8 (n)
  • 92.94 (a)
lizard
(Anolis carolinensis)
Reptilia ETFB 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etfb 35
  • 73.54 (n)
  • 80.95 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5635 35
zebrafish
(Danio rerio)
Actinopterygii Dr.25114 35
etfb 35
  • 72.51 (n)
  • 78.88 (a)
etfb 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004653 35
  • 61.62 (n)
  • 68.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7834 35
  • 67.99 (n)
  • 70.12 (a)
CG7834 36
  • 65 (a)
OneToOne
CG7834 37
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_F23C8.5 35
  • 59.52 (n)
  • 59.52 (a)
F23C8.5 36
  • 56 (a)
OneToOne
F23C8.5 37
  • 59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIR1 35
  • 49.87 (n)
  • 48.79 (a)
CIR1 36
  • 43 (a)
OneToOne
CIR1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16391g 35
  • 52.77 (n)
  • 52.23 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3021 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ETFBETA 35
  • 60.11 (n)
  • 62.3 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3619 35
rice
(Oryza sativa)
Liliopsida Os04g0182800 35
  • 60.85 (n)
  • 61.11 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5881 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07733 35
  • 60.34 (n)
  • 57.31 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1805.02c 35
  • 49.2 (n)
  • 48.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8815 36
  • 66 (a)
OneToOne
Species with no ortholog for ETFB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ETFB Gene

ENSEMBL:
Gene Tree for ETFB (if available)
TreeFam:
Gene Tree for ETFB (if available)

Paralogs for ETFB Gene

No data available for Paralogs for ETFB Gene

Variants for ETFB Gene

Sequence variations from dbSNP and Humsavar for ETFB Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1060494 -- 51,362,761(-) CTCCA(A/C)GCCGA intron-variant
rs1060495 -- 51,362,757(-) ACGCC(C/G)AGCGC intron-variant
rs1130426 Benign, - 51,347,036(-) GGTGA(A/C/G/T)GCTGG missense, reference
rs1862495 -- 51,354,450(+) AGCTC(C/T)AGGGA synonymous-codon, reference, intron-variant
rs1862496 -- 51,357,786(+) GCTCC(C/T)GGCCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv912294 CNV Gain 21882294
esv2296440 CNV Deletion 18987734
esv2718771 CNV Deletion 23290073
esv2718772 CNV Deletion 23290073
esv2718774 CNV Deletion 23290073
esv1441812 CNV Deletion 17803354
esv1016811 CNV Insertion 17803354

Relevant External Links for ETFB Gene

HapMap Linkage Disequilibrium report
ETFB
Human Gene Mutation Database (HGMD)
ETFB

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

Disorders for ETFB Gene

(1) OMIM Diseases for ETFB Gene (130410)

UniProtKB/Swiss-Prot

ETFB_HUMAN
  • Glutaric aciduria 2B (GA2B) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. {ECO:0000269 PubMed:12815589, ECO:0000269 PubMed:7912128}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ETFB Gene

glutaric aciduria IIB,early onset

Relevant External Links for ETFB

Genetic Association Database (GAD)
ETFB
Human Genome Epidemiology (HuGE) Navigator
ETFB
genes like me logo Genes that share disorders with ETFB: view

Publications for ETFB Gene

  1. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PMID: 12815589) Olsen R.K.J. … Gregersen N. (Hum. Mutat. 2003) 3 4 23
  2. Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. (PMID: 7912128) Colombo I. … Didonato S. (Hum. Mol. Genet. 1994) 3 4 23
  3. cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein. (PMID: 8504797) Finocchiaro G. … Didonato S. (Eur. J. Biochem. 1993) 3 4 23
  4. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. (PMID: 8617498) White R.A. … Koeller D.M. (Genomics 1996) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ETFB Gene

Sources for ETFB Gene

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