Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8854
Gene name	Aldehyde dehydrogenase 1 family member A2
Gene symbol	ALDH1A2
Synonyms (NCBI Gene)	DIH4RALDH(II)RALDH2RALDH2-T
Chromosome	15
Chromosome location	15q21.3
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020672	hsa-miR-155-5p	Proteomics	18668040
MIRT047601	hsa-miR-10a-5p	CLASH	23622248
MIRT047601	hsa-miR-10a-5p	CLASH	23622248
MIRT041305	hsa-miR-193b-3p	CLASH	23622248
MIRT039966	hsa-miR-615-3p	CLASH	23622248
MIRT650255	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632085	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT632084	hsa-miR-5193	HITS-CLIP	23824327
MIRT632083	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT632082	hsa-miR-4287	HITS-CLIP	23824327
MIRT632081	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT281547	hsa-miR-621	HITS-CLIP	23824327
MIRT632080	hsa-miR-4268	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632077	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT632076	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT632075	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT650255	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632085	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT632084	hsa-miR-5193	HITS-CLIP	23824327
MIRT632083	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT632082	hsa-miR-4287	HITS-CLIP	23824327
MIRT632081	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT281547	hsa-miR-621	HITS-CLIP	23824327
MIRT632080	hsa-miR-4268	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632077	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT632076	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT632075	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT776947	hsa-miR-1254	CLIP-seq
MIRT776948	hsa-miR-137	CLIP-seq
MIRT776949	hsa-miR-24	CLIP-seq
MIRT776950	hsa-miR-3116	CLIP-seq
MIRT776951	hsa-miR-3176	CLIP-seq
MIRT776952	hsa-miR-3661	CLIP-seq
MIRT776953	hsa-miR-3922-3p	CLIP-seq
MIRT776954	hsa-miR-3944-5p	CLIP-seq
MIRT776955	hsa-miR-4257	CLIP-seq
MIRT776956	hsa-miR-4284	CLIP-seq
MIRT776957	hsa-miR-631	CLIP-seq
MIRT776958	hsa-miR-661	CLIP-seq
MIRT776959	hsa-miR-1207-3p	CLIP-seq
MIRT776960	hsa-miR-1298	CLIP-seq
MIRT776961	hsa-miR-1912	CLIP-seq
MIRT776962	hsa-miR-3130-5p	CLIP-seq
MIRT776963	hsa-miR-3154	CLIP-seq
MIRT776964	hsa-miR-3185	CLIP-seq
MIRT776965	hsa-miR-338-3p	CLIP-seq
MIRT776966	hsa-miR-3617	CLIP-seq
MIRT776967	hsa-miR-3910	CLIP-seq
MIRT776968	hsa-miR-4310	CLIP-seq
MIRT776969	hsa-miR-4426	CLIP-seq
MIRT776970	hsa-miR-4480	CLIP-seq
MIRT776971	hsa-miR-4482	CLIP-seq
MIRT776972	hsa-miR-4504	CLIP-seq
MIRT776973	hsa-miR-4530	CLIP-seq
MIRT776974	hsa-miR-4647	CLIP-seq
MIRT776975	hsa-miR-4662b	CLIP-seq
MIRT776976	hsa-miR-4708-3p	CLIP-seq
MIRT776977	hsa-miR-4738-3p	CLIP-seq
MIRT776978	hsa-miR-542-3p	CLIP-seq
MIRT776979	hsa-miR-548g	CLIP-seq
MIRT776980	hsa-miR-641	CLIP-seq
MIRT776981	hsa-miR-7	CLIP-seq
MIRT776982	hsa-miR-758	CLIP-seq
MIRT2443545	hsa-miR-3126-5p	CLIP-seq
MIRT2443546	hsa-miR-3919	CLIP-seq
MIRT2443547	hsa-miR-4797-5p	CLIP-seq
MIRT2472904	hsa-miR-3156-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
GATA3	Unknown	9819382
TAL1	Activation	9819382

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IEA
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IDA	29240402
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IEA
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	ISS
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IDA	29240402
GO:0002138	Process	Retinoic acid biosynthetic process	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IMP	33565183
GO:0003007	Process	Heart morphogenesis	IEA
GO:0004028	Function	3-chloroallyl aldehyde dehydrogenase activity	IEA
GO:0004028	Function	3-chloroallyl aldehyde dehydrogenase activity	ISS
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA
GO:0005737	Component	Cytoplasm	IDA	18495959
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006081	Process	Aldehyde metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006776	Process	Vitamin A metabolic process	NAS	8663198
GO:0007494	Process	Midgut development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16166285
GO:0009855	Process	Determination of bilateral symmetry	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014032	Process	Neural crest cell development	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0016918	Function	Retinal binding	IEA
GO:0016918	Function	Retinal binding	ISS
GO:0021915	Process	Neural tube development	IMP	16237707
GO:0021983	Process	Pituitary gland development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032526	Process	Response to retinoic acid	IMP	33565183
GO:0033189	Process	Response to vitamin A	IEA
GO:0034097	Process	Response to cytokine	IDA	18495959
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035799	Process	Ureter maturation	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IMP	33565183
GO:0042573	Process	Retinoic acid metabolic process	ISS
GO:0042574	Process	Retinal metabolic process	IEA
GO:0042904	Process	9-cis-retinoic acid biosynthetic process	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048566	Process	Embryonic digestive tract development	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0051289	Process	Protein homotetramerization	IDA	29240402
GO:0060324	Process	Face development	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:1905562	Process	Regulation of vascular endothelial cell proliferation	IEA

MIM	HGNC	e!Ensembl
603687	15472	ENSG00000128918

O94788

Protein name

Retinal dehydrogenase 2 (RALDH 2) (RalDH2) (EC 1.2.1.36) (Aldehyde dehydrogenase family 1 member A2) (ALDH1A2) (Retinaldehyde-specific dehydrogenase type 2) (RALDH(II))

Protein function

Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (PubMed:2

PDB

4X2Q , 6ALJ , 6B5G , 6B5H , 6B5I

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00171	Aldedh	46 → 509	Aldehyde dehydrogenase family	Family

Sequence

MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNP
ATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVL
ATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVC
GQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILP
GYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADAD
LDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQG
PQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFG
PVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQ
SPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS

Sequence length

518

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolic pathways		RA biosynthesis pathway

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diaphragmatic hernia 4, with cardiovascular defects	Pathogenic	rs2504837607, rs2504834746, rs749124508, rs141245344	RCV002280840 RCV002280841 RCV002280842 RCV002280843

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ALDH1A2-related disorder	Likely benign; Benign	rs139785128, rs115875978, rs143084397, rs34645259, rs531169877, rs144628261, rs145381706, rs35251510, rs16939660	RCV003926323 RCV003933710 RCV003939263 RCV003982490 RCV003914407 RCV003914452 RCV003969281 RCV003905825 RCV003928500

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	25447851, 26366059, 26783083
Arnold Chiari Malformation	Associate	23437350
Arterio Arterial Fistula	Associate	33648532
Barrett Esophagus	Associate	25447851, 26783083
Breast Neoplasms	Associate	25582316, 30850363, 35132081
Capillary Malformation Arteriovenous Malformation	Associate	36263470
Carcinoma Hepatocellular	Stimulate	31419443
Carcinoma Hepatocellular	Associate	35286894
Carcinoma Non Small Cell Lung	Associate	26366059
Clubfoot	Associate	36263470
Congenital Abnormalities	Associate	36263470
Diabetes Gestational	Associate	37873933
Diaphragmatic Eventration	Associate	36263470
Fatty Liver	Associate	30379862
Fatty Liver Alcoholic	Inhibit	30379862
Flushing	Associate	34680942
Fraser Like Syndrome	Associate	36263470
Glioblastoma	Associate	34572134
Heart Defects Congenital	Associate	19886994
Heart Diseases	Associate	25929466
Hirschsprung Disease	Associate	31767031
Hypertriglyceridemia	Associate	39662927
Hypocalcemia	Associate	36263470
Infarction Anterior Cerebral Artery	Associate	31419939
Inflammatory Bowel Diseases	Associate	35275975
Kidney Diseases	Associate	22035350
Kidney Tubular Necrosis Acute	Associate	20375987
Leukemia	Associate	23507523
Lung Neoplasms	Associate	22079344
Mesothelioma Malignant	Associate	24884875
Nasopharyngeal Carcinoma	Associate	34680942
Neoplasms	Stimulate	34572134
Neoplasms Adipose Tissue	Associate	35213790
Neural Tube Defects	Associate	25293959, 29297599
Osteoarthritis	Associate	28089900, 29732726, 29741735
Osteoarthritis Knee	Associate	28089900
Ovarian Neoplasms	Associate	19110304
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	9819382
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	25208926, 9819382
Respiratory System Abnormalities	Associate	31767031
Respiratory Tract Infections	Associate	36263470
Self Mutilation	Associate	37029353
Spinal Dysraphism	Associate	19886994
Squamous Cell Carcinoma of Head and Neck	Associate	32238162
Stomach Neoplasms	Associate	27015121
Tetralogy of Fallot	Associate	19886994, 36263470
Thymus Neoplasms	Associate	36263470
Vitamin A Deficiency	Associate	20375987

ALDH1A2 (aldehyde dehydrogenase 1 family member A2)