ALDH1A2 - aldehyde dehydrogenase 1 family member A2 Gene

Also Known as DIH4; RALDH2; RALDH2-T; RALDH(II)

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8854

About ALDH1A2

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:57,953,429-58,065,711 (from NCBI)

This gene has 25 transcripts (splice variants), 219 orthologues, 17 paralogues and is associated with 1 phenotype. Biased expression in endometrium (RPKM 50.6), testis (RPKM 38.7) and 8 other tissues.

Summary

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 signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]

ALDH1A2 Products (4)

mRNA	Protein	Name
NM_001206897.2	NP_001193826.1	retinal dehydrogenase 2 isoform 4
NM_003888.4	NP_003879.2	retinal dehydrogenase 2 isoform 1
NM_170696.3	NP_733797.1	retinal dehydrogenase 2 isoform 2
NM_170697.3	NP_733798.1	retinal dehydrogenase 2 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables retinal dehydrogenase activity	IDA IDA: Inferred from direct assay	29240402	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	16166285	GOA
involved in neural tube development	IMP IMP: Inferred from mutant phenotype	16237707	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	29240402	GOA
involved in response to cytokine	IDA IDA: Inferred from direct assay	18495959	GOA
involved in response to retinoic acid	IMP IMP: Inferred from mutant phenotype	33565183	GOA
involved in retinoic acid biosynthetic process	IDA IDA: Inferred from direct assay	29240402	GOA
involved in retinoic acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	33565183	GOA
involved in retinoic acid metabolic process	IMP IMP: Inferred from mutant phenotype	33565183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18495959	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALDH1A2 Protein Structure

Aldedh

0
100
200
300
400
518 a.a.

Protein Preferred Names	Protein Names
retinal dehydrogenase 2	RALDH 2

Recombinant ALDH1A2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7475	ALDH1A2 Protein, Human (His)	O94788-1 (M1-S518)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P700646	ALDH1A2 Protein, Human (P.pastoris, His)	O94788 (M1-S518)	≥ 90%, as determined by reducing SDS-PAGE.

ALDH1A2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81724	ALDH1A2 Antibody (YA1469)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Diaphragmatic Hernia 4, With Cardiovascular Defects	DIH4
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Microphthalmia, Syndromic 9	Matthew-Wood Syndrome Spear Syndrome Anophthalmia/Microphthalmia And Pulmonary Hypoplasia Microphthalmia, Isolated, With Coloboma 8 MCOPS9 Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Pdac Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect Pmd Syndromic Microphthalmia 9 Anophthalmia-Pulmonary Hypoplasia Syndrome Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect Microphthalmia Syndromic 9 Matthew Wood Syndrome Pdac Syndrome Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome Microphthalmia, Isolated, With Coloboma, 8 MCOPCB8 Isolated Colobomatous Microphthalmia 8 Microphthalmia, Syndromic, 9 Anophthalmia With Pulmonary Hypoplasia Microphthalmia Syndromic, Type 9 Anophthalmia And Pulmonary Hypoplasia
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Holoprosencephaly 7	HPE7 Holoprosencephaly-7 Holoprosencephaly, Type 7
Syndactyly, Type V	Syndactyly Type 5 SDTY5 Syndactyly With Metacarpal And Metatarsal Fusion Syndactyly With Associated Metacarpal And Metatarsal Fusion Postaxial Syndactyly With Metacarpal Synostosis Sd5 Syndactyly 5 Syndactyly Type V
Succinic Semialdehyde Dehydrogenase Deficiency	4-Hydroxybutyric Aciduria Ssadh Deficiency Gamma-Hydroxybutyric Aciduria Gaba Metabolic Defect SSADHD Ssadh Succinate-Semialdehyde Dehydrogenase Deficiency Gamma-Hydroxybutyricaciduria 4-Hydroxybutyricaciduria Gamma-Hydroxybutyric Acidemia Succinate Semialdehyde Dehydrogenase Deficiency
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Cerebral Cavernous Malformations	Cerebral Cavernous Malformation Cavernous Malformations Of Cns And Retina Cerebral Cavernous Malformation 1 Cavernous Angiomatous Malformations Cerebral Capillary Malformations CCM Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations Familial Cavernous Angioma Cavernous Angioma Familial Cerebral Cavernous Malformation Cerebral Cavernous Malformations 1 Cavernous Angioma, Familial Cam Cerebral Cavernous Malformations-1 Cavernoma Central Nervous System Cavernous Hemangioma Cerebral Cavernous Hemangioma Familial Cavernous Hemangioma Familial Cavernous Malformation Familial Cerebral Cavernous Angioma Intracerebral Cavernous Hemangioma CCM1 Cavernous Hemangioma Of The Brain Cerebral Cavernoma Cerebral Cavernous Malformations, Type 1 Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous Angioma, Cavernous
Duodenal Atresia	Duodenal Stenosis Familial Duodenal Atresia
Fetal Alcohol Spectrum Disorder	Fetal Alcohol Spectrum Disorders Fetal Alcohol Syndrome
Moyamoya Disease 1	Moyamoya Disease Spontaneous Occlusion Of The Circle Of Willis Mymy Progressive Intracranial Arterial Occlusion Moyamoya Syndrome MYMY1 Cerebrovascular Moyamoya Disease Moya-Moya Disease Progressive Intracranial Occlusive Arteropathy Idiopathic Moyamoya Disease
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W011094	Win 18446	Inhibitor	98.94%	Unkown
HY-125085	ALDH3A1-IN-3	Inhibitor	99.43%	Unkown
HY-122912	ALDH1A inhibitor 673A		99.15%	Unkown
HY-135841	CM010	Inhibitor	99.70%	Unkown
HY-139031	ALDH1A2-IN-1	Inhibitor	98.05%	Unkown
HY-157567	FSI-TN42	Inhibitor	98.05%	Unkown
HY-128299	ALDH3A1-IN-4	Inhibitor	99.91%	Unkown
HY-139032	CM121	Inhibitor	99.95%	Unkown
HY-158026	ALDH1A1-IN-5	Inhibitor	/	Unkown
HY-N11451	Lacto-N-fucopentaose III	Activator	96.54%	Unkown
HY-RS00561	Aldh1a1 Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS00563	ALDH1A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00567	ALDH1L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17028	Aldh1a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23472	Aldh1a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALDH1A2	RGD	RGD:620250
Canis familiaris	ALDH1A2	VGNC	VGNC:37783
Mus musculus	ALDH1A2	MGD	MGI:107928
Macaca mulatta	ALDH1A2	VGNC	VGNC:81352
Bos taurus	ALDH1A2	VGNC	VGNC:25809
Others	ALDH1A2	NCBI