ALDH1A2 - aldehyde dehydrogenase 1 family member A2 Gene

Homo sapiens

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

Gene ID: 8854 | Gene type: protein coding

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	Reference	Source
enables retinal dehydrogenase activity	IDA IDA: Inferred from direct assay	29240402	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 (M1-S518)	≥95%
HY-P700646	ALDH1A2 Protein, Human (P.pastoris, His)	O94788 (M1-S518)	≥95%

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

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W011094	Win 18446	Inhibitor	98.57%	Unkown
HY-135841	CM010	Inhibitor	98.07%	Unkown
HY-122912	ALDH1A inhibitor 673A		98.81%	Unkown
HY-157567	FSI-TN42	Inhibitor	98.05%	Unkown
HY-125085	ALDH3A1-IN-3	Inhibitor	99.30%	Unkown
HY-139031	ALDH1A2-IN-1	Inhibitor	98.80%	Unkown
HY-139032	CM121	Inhibitor	/	Unkown
HY-158026	ALDH1A1-IN-5	Inhibitor	/	Unkown
HY-N11451	Lacto-N-fucopentaose III	Activator	/	Unkown
HY-RS00563	ALDH1A2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00567	ALDH1L2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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