• Gene id: 217

Gene Summary

• Gene Symbol: ALDH2   Gene   UCSC   Ensembl
• Aliases: ALDH-E2, ALDHI, ALDM
• Gene name: aldehyde dehydrogenase 2 family member
• Alternate names: aldehyde dehydrogenase, mitochondrial, ALDH class 2, acetaldehyde dehydrogenase 2, aldehyde dehydrogenase 2 family (mitochondrial), epididymis secretory sperm binding protein, liver mitochondrial ALDH, nucleus-encoded mitochondrial aldehyde dehydrogenase 2,
• Gene location: 12q24.12 (111766932: 111817531)     Exons: 13     NC_000012.12
• Gene summary(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 b
• OMIM: 100650

SNPs

rs1131692266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104225491G>T
NC_000010.10   g.105985249G>T
NG_051581.1   g.11887C>A
NM_025145.6   c.386C>A
NM_025145.5   c.386C>A
XM_005270172.3   c.386C>A
XM_005270172.1   c.386C>A
XM_011540196.2   c.386C>A
XM_011540197.2   c.386C>A
XM_005270171.2   c.386C>A
XM_005270  

rs768831533

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104143452G>A
NC_000010.11   g.104143452G>C
NC_000010.11   g.104143452G>T
NC_000010.10   g.105903210G>A
NC_000010.10   g.105903210G>C
NC_000010.10   g.105903210G>T
NG_051581.1   g.93926C>T
NG_051581.1   g.93926C>G
NG_051581.1   g.93926C>A
NM_025145.6   c

rs376788209

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104230656G>A
NC_000010.10   g.105990414G>A
NG_051581.1   g.6722C>T
NM_025145.6   c.253C>T
NM_025145.5   c.253C>T
XM_005270172.3   c.253C>T
XM_005270172.1   c.253C>T
XM_011540196.2   c.253C>T
XM_011540197.2   c.253C>T
XM_005270171.2   c.253C>T
XM_0052701  

rs373911488

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104167627A>G
NC_000010.11   g.104167627A>T
NC_000010.10   g.105927385A>G
NC_000010.10   g.105927385A>T
NG_051581.1   g.69751T>C
NG_051581.1   g.69751T>A
NM_025145.6   c.2802T>C
NM_025145.6   c.2802T>A
NM_025145.5   c.2802T>C
NM_025145.5   c.2802T>A
XM_0  

Protein Summary

• Protein general information: P05091  
  • Name: Aldehyde dehydrogenase, mitochondrial (EC 1.2.1.3) (ALDH class 2) (ALDH E2) (ALDHI)
  • Length: 517  
  • Mass: 56381
• Sequence:

  MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVICQVAEGDKED
  VDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLAALETLDNGKPYVISYLVDLDMVLKCLRYYA
  GWADKYHGKTIPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLI
  KEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADM
  DWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYIN
  TGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFT
  KDLDKANYLSQALQAGTVWVNCYDVFGAQSPFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  
  • Prosite: PS00070 PS00687
  • PDB: 1CW3 1NZW 1NZX 1NZZ 1O00 1O01 1O02 1O04 1O05 1ZUM 2ONM 2ONN 2ONO 2ONP 2VLE 3INJ 3INL 3N80 3N81 3N82 3N83 3SZ9 4FQF 4FR8 4KWF 4KWG 5L13
  • PDBsum: 1CW3 1NZW 1NZX 1NZZ 1O00 1O01 1O02 1O04 1O05 1ZUM 2ONM 2ONN 2ONO 2ONP 2VLE 3INJ 3INL 3N80 3N81 3N82 3N83 3SZ9 4FQF 4FR8 4KWF 4KWG 5L13
  • DIP: 40262
  • STRING: ENSP00000261733
• Other Databases: GeneCards:  ALDH2  Malacards:  ALDH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004029	aldehyde dehydrogenase (NAD+) activity	TAS	molecular function
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	TAS	molecular function
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0006066	alcohol metabolic process	TAS	biological process
GO:0043878	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006069	ethanol oxidation	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0006068	ethanol catabolic process	IEA	biological process
GO:0051287	NAD binding	ISS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00561	Glycerolipid metabolism
hsa00310	Lysine degradation
hsa00010	Glycolysis / Gluconeogenesis
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00330	Arginine and proline metabolism
hsa00620	Pyruvate metabolism
hsa00410	beta-Alanine metabolism
hsa00380	Tryptophan metabolism
hsa00053	Ascorbate and aldarate metabolism
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Non-alcoholic fatty liver disease	PMID:27214654
Alzheimer's disease	PMID:15126281
Hypertension	PMID:11510748
pancreatic cancer	PMID:15714130
Brain infarction	PMID:17388993
Liver disease	PMID:16408483
Myocardial infarction	PMID:12452318
hepatocellular carcinoma	PMID:26150517
hepatocellular carcinoma	PMID:28027570
hepatocellular carcinoma	PMID:26827895
type 2 diabetes mellitus	PMID:15563966
Diabetic neuropathy	PMID:15318096
type 1 diabetes mellitus	PMID:12706323
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray