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FLASH GENE

Symbol

ALDH1A2

contributors: mct - updated : 21-11-2023

HGNC name	aldehyde dehydrogenase 1 family, member A2
HGNC id	15472

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis       Homo sapiens   male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatid Homo sapiens Reproductive spermatocyte Homo sapiens Reproductive spermatogonia Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	optic vesicles (transiently)
	expressed in the lateral plate mesoderm

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	NAD-binding domain containing the motif GXGXXXG
	two conserved peptide motif

mono polymer

homomer , tetramer

HOMOLOGY

interspecies	ortholog to Drosophila CG3752
	ortholog to C.elegans F54D8.3
	homolog to murine Aldh1a2

intraspecies	paralog to ALDH1A1
	paralog to ALDH1A3

Homologene

FAMILY

aldehyde dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
	intracellular,nuclear envelope

basic FUNCTION	oxidizing retinaldehyde involved in retinoic acid biogenesis
	RDH10 and ALDH1A2 are critical for RA biosynthesis in the embryo
	ALDH1A2 was predicted to be equally important in RA formation as ALDH1A1
	ALDH1A2 is involved in the regulation of chemoresistant cancer stem cells (CSCs) properties in neuroblastoma
	is essential for the synthesis of retinoic acid from vitamin A

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

vitamin

signaling

hormonal

vitamine A metabolism

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	DADP
	NAD

protein	is a direct transcriptional target of WT1 in epicardial cells
	is a direct target of HOXA13
	expression of ALDH1A2 gene is known to be regulated by RA itself, suggesting that the main regulation of the ALDH1A2 activity level is transcriptional
	ALDH1A2 suppresses epithelial ovarian cancer cell proliferation and migration by downregulating STAT3

cell & other

REGULATION

induced by

TAL1 and LMO acting as cofactors for GATA3

ASSOCIATED DISORDERS

corresponding disease(s)

DIH4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   decreased the proliferation and migration of epithelial ovarian cancer cell lines

Susceptibility

to Tetralogy of Fallot (TOF)

Variant & Polymorphism other	mutations Ala151Ser and Ile157Thr that change non-polar to polar residues at exon 4, is present in TOF patients

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Raldh2-/- embryo mice (Niederreither (99))
	global elimination of Aldh1a1 and Aldh1a2 genes in mice blocks spermatogenesis but does not appear to affect viability