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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes FDA approved drug targets Human disease related genes Metabolic proteins Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
q24.12
Chromosome location (bp)
111766887 - 111817532
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
NAD
Gene summary (Entrez)i
Useful information about the gene from Entrez
This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A384NPN7 [Target identity:100%; Query identity:100%] Aldehyde dehydrogenase 2 family (Mitochondrial), isoform CRA_c; Epididymis secretory sperm binding protein
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Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0004030[aldehyde dehydrogenase [NAD(P)+] activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005975[carbohydrate metabolic process] GO:0006066[alcohol metabolic process] GO:0006068[ethanol catabolic process] GO:0008957[phenylacetaldehyde dehydrogenase activity] GO:0009055[electron transfer activity] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0018547[nitroglycerin reductase activity] GO:0022900[electron transport chain] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity] GO:0046185[aldehyde catabolic process] GO:0051287[NAD binding] GO:0052689[carboxylic ester hydrolase activity] GO:0070062[extracellular exosome] GO:1903179[regulation of dopamine biosynthetic process] GO:1905627[regulation of serotonin biosynthetic process]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0004030[aldehyde dehydrogenase [NAD(P)+] activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005975[carbohydrate metabolic process] GO:0006066[alcohol metabolic process] GO:0006068[ethanol catabolic process] GO:0008957[phenylacetaldehyde dehydrogenase activity] GO:0009055[electron transfer activity] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0018547[nitroglycerin reductase activity] GO:0022900[electron transport chain] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity] GO:0046185[aldehyde catabolic process] GO:0051287[NAD binding] GO:0052689[carboxylic ester hydrolase activity] GO:0070062[extracellular exosome] GO:1903179[regulation of dopamine biosynthetic process] GO:1905627[regulation of serotonin biosynthetic process]
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