Aliases for ETFA Gene
Aliases for ETFA Gene
External Ids for ETFA Gene
- HGNC: 3481
- Entrez Gene: 2108
- Ensembl: ENSG00000140374
- OMIM: 608053
- UniProtKB: P13804
Previous GeneCards Identifiers for ETFA Gene
- GC15M072396
- GC15M069598
- GC15M074084
- GC15M074224
- GC15M074295
- GC15M076508
- GC15M053265
Summaries for ETFA Gene
-
ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ETFA Gene
ETFA (Electron Transfer Flavoprotein Subunit Alpha) is a Protein Coding gene. Diseases associated with ETFA include Multiple Acyl-Coa Dehydrogenase Deficiency and Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding.
UniProtKB/Swiss-Prot for ETFA Gene
-
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:27499296, PubMed:15159392, PubMed:15975918, PubMed:9334218, PubMed:10356313). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1882842, PubMed:1430199).
Additional gene information for ETFA Gene
- Monarch Initiative
- Search for ETFA at DataMed
- Search for ETFA at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFA Gene
Genomics for ETFA Gene
GeneHancer (GH) Regulatory Elements for ETFA Gene
Promoters and enhancers for ETFA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ETFA on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ETFA gene promoter:
-
- POU2F1a
- POU2F1
- Cart-1
- HTF
- ATF6
- ITF-2
- Tal-1beta
- POU3F2 (N-Oct-5b)
- POU3F2 (N-Oct-5a)
- POU3F2
Regulatory Element Products
Genomic Locations for ETFA Gene
Genomic Locations for ETFA Gene
- chr15:76,215,355-76,311,472
- (GRCh38/hg38)
- Size:
- 96,118 bases
- Orientation:
- Minus strand
- chr15:76,507,696-76,603,813
- (GRCh37/hg19)
- Size:
- 96,118 bases
- Orientation:
- Minus strand
Genomic View for ETFA Gene
Genes around ETFA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q24.2-q24.3 by Entrez Gene
- 15q24.2-q24.3 by HGNC
- 15q24.3 by Ensembl
ETFA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ETFA Gene
Proteins for ETFA Gene
-
Protein details for ETFA Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P13804-ETFA_HUMAN
- Recommended name:
- Electron transfer flavoprotein subunit alpha, mitochondrial
- Protein Accession:
- P13804
- B4DT43
- Q53XN3
Protein attributes for ETFA Gene
- Size:
- 333 amino acids
- Molecular mass:
- 35080 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Heterodimer composed of ETFA and ETFB (PubMed:8962055, PubMed:15159392, PubMed:15975918, PubMed:9334218). Identified in a complex that contains ETFA, ETFB and ETFRF1 (PubMed:27499296). Interaction with ETFRF1 promotes dissociation of the bound FAD and loss of electron transfer activity (PubMed:27499296).
Three dimensional structures from OCA and Proteopedia for ETFA Gene
Protein Expression for ETFA Gene
Post-translational modifications for ETFA Gene
- The N-terminus is blocked.
- Ubiquitination at isoforms=2216 and isoforms=285
- Modification sites at PhosphoSitePlus
Other Protein References for ETFA Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ETFA
- Novus Biologicals Antibodies for ETFA
- Invitrogen Antibodies for ETFA
- GeneTex ETFA Antibody for ETFA
-
Santa Cruz Biotechnology (SCBT) Antibodies for ETFA
Protein Products
-
OriGene Purified Proteins for ETFA
- Search Origene for MassSpec and Protein Over-expression Lysates for ETFA
- Origene Custom Protein Services for ETFA
- Search GeneTex for Proteins for ETFA
Assay Products
- antibodies-online: Search results for 9 available ETFA Elisa Kits ranked by validation data
- Compare Top ETFA Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ETFA Gene
Domains & Families for ETFA Gene
Gene Families for ETFA Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for ETFA Gene
Suggested Antigen Peptide Sequences for ETFA Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ50859, highly similar to Electron transfer flavoprotein subunit alpha, mitochondrial (B4DT43_HUMAN)
- Electron transfer flavoprotein subunit alpha, mitochondrial (ETFA_HUMAN)
- cDNA FLJ76486, highly similar to Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) (ETFA), nuclear gene encoding mitochondrial protein, mRNA (Q53XN3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P13804UniProtKB/Swiss-Prot:
ETFA_HUMAN :- Domain I shares an identical polypeptide fold with the beta subunit ETFB though there is no sequence similarity.
- Belongs to the ETF alpha-subunit/FixB family.
- Domain:
-
- Domain I shares an identical polypeptide fold with the beta subunit ETFB though there is no sequence similarity.
- Family:
-
- Belongs to the ETF alpha-subunit/FixB family.
Function for ETFA Gene
Molecular function for ETFA Gene
- UniProtKB/Swiss-Prot Function:
- Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:27499296, PubMed:15159392, PubMed:15975918, PubMed:9334218, PubMed:10356313). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1882842, PubMed:1430199).
- GENATLAS Biochemistry:
- electron transfer flavoprotein,alpha (32kDa),with the unstable variant T171I overreprinted in ACADVL deficient patients with mild childhood presentation
Phenotypes From GWAS Catalog for ETFA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 24606901 |
| GO:0009055 | electron transfer activity | IEA,IDA | 10423253 |
| GO:0016491 | oxidoreductase activity | IDA | 9334218 |
| GO:0050660 | flavin adenine dinucleotide binding | IEA,IDA | 9334218 |
Phenotypes for ETFA Gene
- GenomeRNAi human phenotypes for ETFA:
-
- Increased HPV18 LCR reporter activity
- Decreased viability ratio
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Reduced mammosphere formation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased homologous recombination repair frequency
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ETFA
-
CRISPR Products
-
OriGene CRISPR knockouts for ETFA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ETFA
- genomics-online: gRNA clones - Search results for available ETFA gene related products
- Applied Biological Materials CRISPR for ETFA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ETFA
- GenScript: Design CRISPR guide RNA sequences for ETFA
miRNA for ETFA Gene
- miRTarBase miRNAs that target ETFA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ETFA
- Browse OriGene Inhibitory RNA Products For ETFA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFA
- genomics-online: shRNA clones - Search results for available ETFA gene related products
Clone Products
- Sino Biological Human cDNA Clone for ETFA
- VectorBuilder custom plasmid, inducible vectors for ETFA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ETFA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ETFA
- genomics-online: cdna clones - Search results for available ETFA gene related products
- orf clones - Search results for available ETFA gene related products
- Applied Biological Materials Clones for ETFA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ETFA
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ETFA Gene
Localization for ETFA Gene
Subcellular locations from UniProtKB/Swiss-Prot for ETFA Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| lysosome | 2 |
| golgi apparatus | 2 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | -- |
Pathways & Interactions for ETFA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
| 2 | Metabolism |
.37
|
|
Pathways by source for ETFA Gene
Interacting Proteins for ETFA Gene
Selected Interacting proteins:
P13804-ETFA_HUMAN
ENSP00000452762
for ETFA Gene via
IID
MINT
STRING
UniProtKB
GPS-Prot Interaction Network for ETFA
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0022900 | electron transport chain | IEA | -- |
| 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 | -- |
No data available for SIGNOR curated interactions for ETFA Gene
Drugs & Compounds for ETFA Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| FAD | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ETFA Gene
mRNA/cDNA for ETFA Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (444) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000267950 1289 bps (uc059lvz.1)
- ENST00000433983 1346 bps (uc010bkq.2)
- ENST00000557943 2287 bps (uc002bbt.3)
- ENST00000557975 1086 bps (uc059lvy.1)
- ENST00000558803 447 bps (uc059lwl.1)
Unigene Clusters for ETFA Gene
CRISPR Products
-
OriGene CRISPR knockouts for ETFA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ETFA
- genomics-online: gRNA clones - Search results for available ETFA gene related products
- Applied Biological Materials CRISPR for ETFA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ETFA
- GenScript: Design CRISPR guide RNA sequences for ETFA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ETFA
- Browse OriGene Inhibitory RNA Products For ETFA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFA
- genomics-online: shRNA clones - Search results for available ETFA gene related products
Clone Products
- Sino Biological Human cDNA Clone for ETFA
- VectorBuilder custom plasmid, inducible vectors for ETFA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ETFA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ETFA
- genomics-online: cdna clones - Search results for available ETFA gene related products
- orf clones - Search results for available ETFA gene related products
- Applied Biological Materials Clones for ETFA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||
| SP5: |
Expression for ETFA Gene
mRNA differential expression in normal tissues according to GTEx for ETFA Gene
This gene is overexpressed in Heart - Left Ventricle (x4.2) and Liver (x4.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ETFA Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ETFA Gene:
ETFASOURCE GeneReport for Unigene cluster for ETFA Gene:
Hs.39925Evidence on tissue expression from TISSUES for ETFA Gene
- Liver(4.6)
- Intestine(4.4)
- Nervous system(3.7)
- Muscle(2.7)
- Kidney(2.6)
- Heart(2.4)
- Skin(2.1)
- Adrenal gland(2)
- Blood(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ETFA Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for ETFA
-
OriGene qPCR primer pairs for ETFA
- genomics-online: primer clones - Search results for available ETFA gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ETFA Gene
Orthologs for ETFA Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ETFA 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ETFA 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ETFA 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Etfa 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Etfa 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ETFA 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ETFA 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ETFA 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | etfa 33 |
|
||
| Str.3137 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24246 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | etfa 34 33 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9018 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | wal 34 35 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004031 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_F27D4.1 33 |
|
||
| F27D4.1 34 |
|
OneToOne | |||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E14037g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AIM45 36 34 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGL054W 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ETFALPHA 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.11363 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0835400 33 |
|
||
| Os.14084 33 |
|
||||
| wheat (Triticum aestivum) |
Liliopsida | Ta.7134 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.9255 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.4786 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8750 34 |
|
OneToOne | |
| Cin.2139 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08004 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC27D7.06 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2139 33 |
|
- Species where no ortholog for ETFA was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- 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 ETFA Gene
- ENSEMBL:
- Gene Tree for ETFA (if available)
- TreeFam:
- Gene Tree for ETFA (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ETFA: view image
Paralogs for ETFA Gene
(32) SIMAP similar genes for ETFA Gene using alignment to 11 proteins:
- ETFA_HUMAN
- H0YK49_HUMAN
- H0YKF0_HUMAN
- H0YL12_HUMAN
- H0YL83_HUMAN
- H0YLU7_HUMAN
- H0YM12_HUMAN
- H0YMU8_HUMAN
- H0YNX6_HUMAN
- H3BV91_HUMAN
- J3KN60_HUMAN
No data available for Paralogs for ETFA Gene
Variants for ETFA Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1042921735 | likely-benign, Glutaric aciduria, type 2 | 76,311,359(-) | G/A/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1049602650 | uncertain-significance, Glutaric aciduria, type 2 | 76,274,482(-) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs116149551 | uncertain-significance, Glutaric aciduria, type 2 | 76,311,459(-) | A/G | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs119458969 | pathogenic, Glutaric acidemia IIA, Glutaric aciduria 2A (GA2A) [MIM:231680] | 76,286,463(-) | A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs119458970 | pathogenic, conflicting-interpretations-of-pathogenicity, Glutaric acidemia IIA, not provided, Glutaric aciduria, type 2, Glutaric aciduria 2A (GA2A) [MIM:231680] | 76,274,431(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv958019 | CNV | deletion | 24416366 |
| nsv833057 | CNV | loss | 17160897 |
| nsv569998 | CNV | gain | 21841781 |
| nsv527608 | CNV | loss | 19592680 |
| nsv520069 | CNV | loss | 19592680 |
| nsv1618 | CNV | insertion | 18451855 |
| nsv1128727 | CNV | duplication | 24896259 |
| nsv1116463 | OTHER | inversion | 24896259 |
| esv3581766 | CNV | loss | 25503493 |
| esv2749898 | CNV | deletion | 23290073 |
| esv2749895 | CNV | deletion | 23290073 |
| esv1180027 | CNV | insertion | 17803354 |
Residual Variation Intolerance Score:
29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.10;
61.12% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ETFA Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETFA Gene
Disorders for ETFA Gene
(9) MalaCards diseases for ETFA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multiple acyl-coa dehydrogenase deficiency |
|
|
| lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
|
|
| transverse colon cancer |
|
|
| short-rib thoracic dysplasia 2 with or without polydactyly |
|
|
| gangliosidosis gm2 |
|
|
Search ETFA in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ETFA_HUMAN- Glutaric aciduria 2A (GA2A) [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:1430199, ECO:0000269 PubMed:1882842, ECO:0000269 PubMed:9334218}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for ETFA Gene
glutaric aciduria IIA,early onset
Additional Disease Information for ETFA
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for ETFA Gene
- Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PMID: 12815589) Olsen RK … Gregersen N (Human mutation 2003) 3 4 22 58
- Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. (PMID: 1882842) Indo Y … Tanaka K (American journal of human genetics 1991) 3 4 22 58
- Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4 58
- Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 44 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
Products for ETFA Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for ETFA
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ETFA
- Search Origene for MassSpec and Protein Over-expression Lysates for ETFA
- Origene Custom Protein Services for ETFA
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ETFA
- Browse OriGene Inhibitory RNA Products For ETFA
- OriGene qPCR primer pairs and template standards for ETFA
- OriGene qPCR primer pairs for ETFA
- OriGene CRISPR knockouts for ETFA
- OriGene ORF clones in human for ETFA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ETFA
- GenScript: Next-day shipping of latest version cDNA ORF clones for ETFA in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ETFA
- GenScript Custom Assay Services for ETFA
- GenScript Custom overexpressing Cell Line Services for ETFA
- GenScript: Design CRISPR guide RNA sequences for ETFA
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ETFA
- Sino Biological Human cDNA Clone for ETFA
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ETFA
- Novus Biologicals proteins and lysates for ETFA
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- VectorBuilder custom plasmid, inducible vectors for ETFA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ETFA
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 115 available ETFA Antibodies ranked by validation data
- Compare Top ETFA Antibodies
- antibodies-online: Search results for 9 available ETFA Elisa Kits ranked by validation data
- Compare Top ETFA Elisa Kits
- Quality Products:
- antibodies-online: Search results for 11 available ETFA Proteins ranked by validation data
- Compare Top ETFA Proteins
- GeneTex ETFA Antibody for ETFA
- Search GeneTex for Proteins for ETFA
- Santa Cruz Biotechnology (SCBT) Antibodies for ETFA
- Search Santa Cruz Biotechnology (SCBT) for ETFA siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ETFA
- Horizon Cell Lines for ETFA
- genomics-online: cdna clones - Search results for available ETFA gene related products
- orf clones - Search results for available ETFA gene related products
- genomics-online: gRNA clones - Search results for available ETFA gene related products
- genomics-online: primer clones - Search results for available ETFA gene related products
- genomics-online: shRNA clones - Search results for available ETFA gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ETFA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ETFA
- GeneCopoeia miRNA 3'UTR Target clone products for ETFA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFA
Sources for ETFA Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt