ALDH1A2

Aldehyde dehydrogenase 1 family, member A2, also known as ALDH1A2 or retinaldehyde dehydrogenase 2 (RALDH2), is an enzyme that in humans is encoded by the ALDH1A2 gene.[5][6]

ALDH1A2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4X2Q
Identifiers
Aliases	ALDH1A2, RALDH(II), RALDH2, RALDH2-T, aldehyde dehydrogenase 1 family member A2
External IDs	OMIM: 603687 MGI: 107928 HomoloGene: 68368 GeneCards: ALDH1A2
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.3 Start 57,953,424 bp[1] End 58,497,866 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 D|9 39.85 cM Start 71,215,789 bp[2] End 71,296,243 bp[2]
Gene ontology Molecular function • oxidoreductase activity • aldehyde dehydrogenase (NAD) activity • retinal binding • retinal dehydrogenase activity • 3-chloroallyl aldehyde dehydrogenase activity • oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cellular component • cytoplasm • cytosol • perinuclear region of cytoplasm Biological process • cellular response to retinoic acid • proximal/distal pattern formation • response to cytokine • pituitary gland development • response to estradiol • 9-cis-retinoic acid biosynthetic process • neural crest cell development • cardiac muscle tissue development • lung development • kidney development • retinol metabolic process • heart morphogenesis • hindbrain development • retinoic acid metabolic process • retinal metabolic process • embryonic camera-type eye development • retinoic acid biosynthetic process • response to vitamin A • face development • positive regulation of gene expression • retinoic acid receptor signaling pathway • blood vessel development • embryonic limb morphogenesis • ureter maturation • neural tube development • neuron differentiation • positive regulation of cell proliferation • regulation of endothelial cell proliferation • positive regulation of apoptotic process • pancreas development • determination of bilateral symmetry • vitamin A metabolic process • liver development • forebrain development • camera-type eye development • metabolism • morphogenesis of embryonic epithelium • oxidation-reduction process • embryonic digestive tract development • embryonic forelimb morphogenesis • anterior/posterior pattern specification • negative regulation of cell proliferation • midgut development • retinoic acid receptor signaling pathway involved in somitogenesis • protein homotetramerization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8854	19378
Ensembl	ENSG00000128918	ENSMUSG00000013584
UniProt	O94788	Q62148
RefSeq (mRNA)	NM_170697 NM_001206897 NM_003888 NM_170696	NM_009022
RefSeq (protein)	NP_001193826 NP_003879 NP_733797 NP_733798	NP_033048
Location (UCSC)	Chr 15: 57.95 – 58.5 Mb	Chr 9: 71.22 – 71.3 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 paracrine hormone signaling molecule that functions in developing and adult tissues.[7] The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels that facilitate posterior organ development and prevent spina bifida. Three transcript variants encoding distinct isoforms have been identified for this gene.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000128918 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000013584 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ono Y, Fukuhara N, Yoshie O (Dec 1998). "TAL1 and LIM-Only Proteins Synergistically Induce Retinaldehyde Dehydrogenase 2 Expression in T-Cell Acute Lymphoblastic Leukemia by Acting as Cofactors for GATA3". Mol Cell Biol. 18 (12): 6939–50. doi:10.1128/MCB.18.12.6939. PMC 109277. PMID 9819382.
6. "Entrez Gene: ALDH1A2 aldehyde dehydrogenase 1 family, member A2".
7. Duester G (September 2008). "Retinoic Acid Synthesis and Signaling during Early Organogenesis". Cell. 134 (6): 921–31. doi:10.1016/j.cell.2008.09.002. PMC 2632951. PMID 18805086.

External links

• Human ALDH1A2 genome location and ALDH1A2 gene details page in the UCSC Genome Browser.

Further reading

• Wang X, Penzes P, Napoli JL (1996). "Cloning of a cDNA encoding an aldehyde dehydrogenase and its expression in Escherichia coli. Recognition of retinal as substrate". J. Biol. Chem. 271 (27): 16288–93. doi:10.1074/jbc.271.27.16288. PMID 8663198.
• Zhao D, McCaffery P, Ivins KJ, et al. (1996). "Molecular identification of a major retinoic-acid-synthesizing enzyme, a retinaldehyde-specific dehydrogenase". Eur. J. Biochem. 240 (1): 15–22. doi:10.1111/j.1432-1033.1996.0015h.x. PMID 8797830.
• Niederreither K, Subbarayan V, Dollé P, Chambon P (1999). "Embryonic retinoic acid synthesis is essential for early mouse post-implantation development". Nat. Genet. 21 (4): 444–8. doi:10.1038/7788. PMID 10192400.
• Niederreither K, Abu-Abed S, Schuhbaur B, et al. (2002). "Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development". Nat. Genet. 31 (1): 84–8. doi:10.1038/ng876. PMID 11953746.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Anderson NL, Polanski M, Pieper R, et al. (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources" (PDF). Mol. Cell. Proteomics. 3 (4): 311–26. doi:10.1074/mcp.M300127-MCP200. PMID 14718574.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Deak KL, Dickerson ME, Linney E, et al. (2006). "Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2". Birth Defects Res. Part a Clin. Mol. Teratol. 73 (11): 868–75. doi:10.1002/bdra.20183. PMID 16237707.
• Ribes V, Wang Z, Dollé P, Niederreither K (2006). "Retinaldehyde dehydrogenase 2 (RALDH2)-mediated retinoic acid synthesis regulates early mouse embryonic forebrain development by controlling FGF and sonic hedgehog signaling". Development. 133 (2): 351–61. doi:10.1242/dev.02204. PMID 16368932.