• Gene id: 8854

Gene Summary

• Gene Symbol: ALDH1A2   Gene   UCSC   Ensembl
• Aliases: RALDH(II), RALDH2, RALDH2-T
• Gene name: aldehyde dehydrogenase 1 family member A2
• Alternate names: retinal dehydrogenase 2, RALDH 2, retinaldehyde-specific dehydrogenase type 2,
• Gene location: 15q21.3 (58065922: 57953423)     Exons: 15     NC_000015.10
• Gene summary(Entrez): This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal
• OMIM: 603687

Protein Summary

• Protein general information: O94788  
  • Name: Retinal dehydrogenase 2 (RALDH 2) (RalDH2) (EC 1.2.1.36) (Aldehyde dehydrogenase family 1 member A2) (Retinaldehyde specific dehydrogenase type 2) (RALDH(II))
  • Length: 518  
  • Mass: 56,724
• Sequence:

  MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKA
  DIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYY
  AGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGAL
  IKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADAD
  LDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELI
  QSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVF
  TNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  
  • Prosite: PS00070 PS00687
  • PDB: 4X2Q 6ALJ 6B5G 6B5H 6B5I
  • PDBsum: 4X2Q 6ALJ 6B5G 6B5H 6B5I
  • STRING: ENSP00000249750
• Other Databases: GeneCards:  ALDH1A2  Malacards:  ALDH1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001568	blood vessel development	IEA	biological process
GO:0001758	retinal dehydrogenase activity	ISS	molecular function
GO:0001758	retinal dehydrogenase activity	IBA	molecular function
GO:0001758	retinal dehydrogenase activity	TAS	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001936	regulation of endothelial cell proliferation	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	ISS	molecular function
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	IBA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD) activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006776	vitamin A metabolic process	NAS	biological process
GO:0007494	midgut development	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0009855	determination of bilateral symmetry	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0016331	morphogenesis of embryonic epithelium	IEA	biological process
GO:0016918	retinal binding	ISS	molecular function
GO:0021915	neural tube development	IMP	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0031076	embryonic camera-type eye development	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035799	ureter maturation	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042573	retinoic acid metabolic process	ISS	biological process
GO:0042574	retinal metabolic process	IEA	biological process
GO:0042904	9-cis-retinoic acid biosynthetic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048566	embryonic digestive tract development	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060324	face development	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0001758	retinal dehydrogenase activity	IEA	molecular function
GO:0001758	retinal dehydrogenase activity	IEA	molecular function
GO:0001758	retinal dehydrogenase activity	ISS	molecular function
GO:0001758	retinal dehydrogenase activity	IBA	molecular function
GO:0001758	retinal dehydrogenase activity	TAS	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001936	regulation of endothelial cell proliferation	IEA	biological process
GO:0002138	retinoic acid biosynthetic process	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	IEA	molecular function
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	ISS	molecular function
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	IBA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD) activity	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006776	vitamin A metabolic process	NAS	biological process
GO:0007494	midgut development	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0009855	determination of bilateral symmetry	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0016331	morphogenesis of embryonic epithelium	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
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:0016918	retinal binding	IEA	molecular function
GO:0016918	retinal binding	ISS	molecular function
GO:0021915	neural tube development	IMP	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0031076	embryonic camera-type eye development	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035799	ureter maturation	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042573	retinoic acid metabolic process	IEA	biological process
GO:0042573	retinoic acid metabolic process	ISS	biological process
GO:0042574	retinal metabolic process	IEA	biological process
GO:0042904	9-cis-retinoic acid biosynthetic process	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048566	embryonic digestive tract development	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060324	face development	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0001758	retinal dehydrogenase activity	ISS	molecular function
GO:0001758	retinal dehydrogenase activity	IBA	molecular function
GO:0001758	retinal dehydrogenase activity	TAS	molecular function
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	ISS	molecular function
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	IBA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD) activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006776	vitamin A metabolic process	NAS	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0016918	retinal binding	ISS	molecular function
GO:0021915	neural tube development	IMP	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0042573	retinoic acid metabolic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 19886994
Hypertension	GAD: 19609347
Neural tube defects	GAD: 16237707
Schizophrenia	GAD: 19703508
Kidney diseases	GAD: 20375987
Male factor infertility	MIK: 24524833
Spermatogenesis defects	MIK: 24524833
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 24524833
Impaired spermatogenesis	MIK: 24524833
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24524833	Male infertility, impaired spermatogenesis		Chile	43 (32 infertile men, 11 control men)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R