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ETFB Gene(Protein Coding)

Electron Transfer Flavoprotein Beta Subunit

GCID:
GC19M051345
GIFtS:
62
Genes Participants
UDN Logo

Aliases for ETFB Gene

Aliases for ETFB Gene

  • Electron Transfer Flavoprotein Beta Subunit 2 3 5
  • Beta-ETF 3 4
  • Electron-Transferring-Flavoprotein, Beta Polypeptide 3
  • Electron-Transfer-Flavoprotein, Beta Polypeptide 2
  • Electron Transfer Flavoprotein, Beta Polypeptide 3
  • Electron Transfer Flavoprotein Subunit Beta 3
  • FP585 3
  • MADD 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 Subunit) is a Protein Coding gene. Diseases associated with ETFB include Glutaric Acidemia Iic and Multiple Acyl-Coa Dehydrogenation Deficiency, Severe Neonatal Type. Among its related pathways are Metabolism of proteins and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFB Gene

Genomics for ETFB Gene

Products:

  1. Regulatory Element

Regulatory Elements for ETFB Gene

Enhancers for ETFB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G051338 1.1 ENCODE 12.2 +26.6 26633 2.8 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A YY1 ZNF766 ZNF416 ZNF143 POLD1 ZNF616 ZNF766 ETFB CLDND2 NKG7 ZNF841 ZNF836 SIGLEC8 CEACAM18
GH19G051406 1.1 Ensembl ENCODE 11.9 -41.8 -41849 2.9 ATF1 RAD21 GATA2 ZNF143 FOS RCOR1 SMARCA5 MIER2 REST SREBF1 NKG7 CLDND2 ETFB SIGLEC8 VSIG10L SIGLEC14 SIGLEC5 RPL7P51 FPR3 SIGLEC10
GH19G051326 1.1 Ensembl ENCODE 11.5 +39.2 39175 1.9 HDAC1 TBP ATF1 CBX3 RB1 AGO1 ARID4B ZBTB40 ZNF48 RAD21 ETFB CLDND2 NKG7 SIGLEC8 CEACAM18 SIGLEC14 SIGLEC5 RPL7P51 ENSG00000267905 GC19M051338
GH19G051360 1.7 Ensembl ENCODE dbSUPER 5.9 +1.5 1475 8.5 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF175 VSIG10L ZNF836 ZNF615 LOC100419835 POLD1 ZNF616 ZNF766 SIGLEC8 RPL7P51
GH19G050510 1.4 ENCODE dbSUPER 4.9 +855.1 855125 2.5 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF2 YY1 CBX5 ZNF207 NUP62 AKT1S1 ASPDH JOSD2 ETFB LOC100506114
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ETFB on UCSC Golden Path with GeneCards custom track

Promoters for ETFB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111168 -582 2801 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC

Transcription factor binding sites by QIAGEN in the ETFB gene promoter:

Genomic Location for ETFB Gene

Chromosome:
19
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

Genes around ETFB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ETFB Gene

Proteins for ETFB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Electron transfer flavoprotein is a heterodimer composed of ETFA and ETFB (PubMed:8962055). Interacts with ETFRF1 (PubMed:27499296).

    Three dimensional structures from OCA and Proteopedia for ETFB Gene

    Alternative splice isoforms for ETFB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFB Gene

Protein Expression for ETFB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ETFB Gene

  • Methylated. Trimethylation at Lys-200 and Lys-203 may negatively regulate the activity in electron transfer from Acyl-CoA dehydrogenases.
  • Ubiquitination at Lys35
  • Modification sites at PhosphoSitePlus

Other Protein References for ETFB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ETFB Gene

Domains & Families for ETFB Gene

Protein Domains for ETFB Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • The recognition loop recognizes a hydrophobic patch at the surface of interacting dehydrogenases and acts as a static anchor at the interface.
  • Belongs to the ETF beta-subunit/FixA family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0005515 protein binding IPI 27499296
GO:0009055 electron carrier activity IEA,IDA 25416781
genes like me logo Genes that share ontologies with ETFB: view
genes like me logo Genes that share phenotypes with ETFB: view

Human Phenotype Ontology for ETFB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ETFB Gene

miRTarBase miRNAs that target ETFB

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ETFB

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 ETFB gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for ETFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ETFB: view

Pathways & Interactions 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:0006479 protein methylation TAS --
GO:0022904 respiratory electron transport chain TAS --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA 25416781
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ETFB: view

No data available for SIGNOR curated interactions for ETFB Gene

Drugs & Compounds for ETFB Gene

Products:

  1. Drug

(1) Drugs for ETFB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0

(1) Additional Compounds for ETFB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETFB: view

Transcripts for ETFB Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ETFB Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(320) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ETFB Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ETFB

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for ETFB Gene
mRNA expression by BioGPS for ETFB GenemRNA expression by GTEx for ETFB Gene

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

This gene is overexpressed in Liver (x4.6).

Protein differential expression in normal tissues from HIPED for ETFB Gene

This gene is overexpressed in Heart (9.4).

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



Protein tissue co-expression partners for ETFB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ETFB Gene:

ETFB

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.

Evidence on tissue expression from TISSUES for ETFB Gene

  • Muscle(4.6)
  • Nervous system(4.6)
  • Liver(4.4)
  • Heart(2.5)
  • Eye(2.4)
  • Kidney(2.4)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ETFB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • stomach
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ETFB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ETFB Gene

Orthologs for ETFB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETFB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia ETFB 34 35
  • 91.37 (n)
dog
(Canis familiaris)
 Mammalia ETFB 34 35
  • 90.46 (n)
chimpanzee
(Pan troglodytes)
 Mammalia ETFB 35
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Etfb 34 16 35
  • 87.71 (n)
rat
(Rattus norvegicus)
 Mammalia Etfb 34
  • 86.8 (n)
oppossum
(Monodelphis domestica)
 Mammalia ETFB 35
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ETFB 35
  • 76 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ETFB 35
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia etfb 34
  • 73.54 (n)
zebrafish
(Danio rerio)
 Actinopterygii etfb 34 35
  • 72.51 (n)
Dr.25114 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5635 34
fruit fly
(Drosophila melanogaster)
 Insecta CG7834 36 34 35
  • 67.99 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004653 34
  • 61.62 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_F23C8.5 34
  • 59.52 (n)
F23C8.5 36 35
  • 59 (a)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E16391g 34
  • 52.77 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CIR1 35 37 34
  • 49.87 (n)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons ETFBETA 34
  • 60.11 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.3021 34
rice
(Oryza sativa)
 Liliopsida Os04g0182800 34
  • 60.85 (n)
barley
(Hordeum vulgare)
 Liliopsida Hv.3619 34
wheat
(Triticum aestivum)
 Liliopsida Ta.5881 34
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8815 35
  • 66 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU07733 34
  • 60.34 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC1805.02c 34
  • 49.2 (n)
Species where no ortholog for ETFB was found in the sources mined by GeneCards:
  • 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
rs104894677 Pathogenic, Glutaric aciduria 2B (GA2B) [MIM:231680] 51,347,006(-) GGAGC(A/G)GGAGA reference, missense
rs104894678 Pathogenic, Glutaric aciduria 2B (GA2B) [MIM:231680] 51,350,385(-) CCATC(A/G)ATGAT reference, missense
rs548046212 Likely pathogenic 51,353,275(+) CAGGG(A/C/T)GGTAC reference, missense
rs770665020 Likely pathogenic 51,353,271(+) TGGCC(A/G/T)GGGCG reference, missense
rs796051954 Likely pathogenic 51,354,206(-) TCAAG(A/G)AGAAG reference, missense

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

Variant ID Type Subtype PubMed ID
esv1016811 CNV insertion 17803354
esv1441812 CNV deletion 17803354
esv2296440 CNV deletion 18987734
esv2718771 CNV deletion 23290073
esv2718772 CNV deletion 23290073
esv2718774 CNV deletion 23290073
nsv1140251 OTHER inversion 24896259

Variation tolerance for ETFB Gene

Residual Variation Intolerance Score: 50.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.90; 95.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ETFB Gene

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

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

Disorders for ETFB Gene

MalaCards: The human disease database

(4) MalaCards diseases for ETFB Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ETFB in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  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 22 64
  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 22 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 4 64
  5. Human METTL20 is a mitochondrial lysine methyltransferase that targets the I^ subunit of electron transfer flavoprotein (ETFI^) and modulates its activity. (PMID: 25416781) MaA8ecki J. … Falnes P.A.9. (J. Biol. Chem. 2015) 3 4 64

Products for ETFB Gene

  • Cloud-Clone Corp. Antibodies for ETFB
  • Cloud-Clone Corp. Proteins for ETFB
  • Cloud-Clone Corp Assay Kits for ETFB
  • Addgene plasmids for ETFB

Sources for ETFB Gene

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