ENSG00000111275
Homo sapiens | |
Features
| Gene ID: | ENSG00000111275 | | | | | Biological name : | ALDH2 | | | | | Synonyms : | aldehyde dehydrogenase 2 family (mitochondrial) / ALDH2 / P05091 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | 1 | | Band: | q24.12 | | Gene start: | 111766887 | | Gene end: | 111817529 | | | | | Corresponding Affymetrix probe sets: | 201425_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000261733
Ensembl peptide - ENSP00000403349
Ensembl peptide - ENSP00000448179
Ensembl peptide - ENSP00000474669
NCBI entrez gene - 217
See in Manteia.
OMIM - 100650
RefSeq - NM_000690
RefSeq - NM_001204889
RefSeq Peptide - NP_000681
RefSeq Peptide - NP_001191818
swissprot - S4R3S4
swissprot - F8VSB0
swissprot - P05091
Ensembl - ENSG00000111275
| | | | | Related genetic diseases (OMIM): | 100650 - {Esophageal cancer, alcohol-related, susceptibility to} | | | 610251 - Alcohol sensitivity, acute, 610251 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR015590 | Aldehyde dehydrogenase domain | | IPR016160 | Aldehyde dehydrogenase, cysteine active site | | IPR016161 | Aldehyde/histidinol dehydrogenase | | IPR016162 | Aldehyde dehydrogenase, N-terminal | | IPR029510 | Aldehyde dehydrogenase, glutamic acid active site |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0001033 | Facial flushing after alcohol intake | |
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| | HP:0003533 | Delayed oxidation of acetaldehyde | |
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Interacting proteins (from Reactome)
| ENSG00000111275 | ALDH2 / P05091 / aldehyde dehydrogenase 2 family (mitochondrial) | / complex |
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