ALDH3A2 (aldehyde dehydrogenase 3 family member A2)

2007-04-01 Affiliation

Identity

HGNC

ALDH3A2

LOCATION

17p11.2

LOCUSID

224

ALIAS

ALDH10,FALDH,SLS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 224
MIM: 609523
HGNC: 403
Ensembl: ENSG00000072210

Variants:

dbSNP: 224
ClinVar: 224
TCGA: ENSG00000072210
COSMIC: ALDH3A2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000072210	ENST00000176643	P51648
ENSG00000072210	ENST00000339618	P51648
ENSG00000072210	ENST00000395575	P51648
ENSG00000072210	ENST00000472059	I3L0X1
ENSG00000072210	ENST00000571163	I3L2W1
ENSG00000072210	ENST00000571537	I3L1M4
ENSG00000072210	ENST00000573565	J3QQV9
ENSG00000072210	ENST00000573947	J3KTD9
ENSG00000072210	ENST00000575384	I3L4G6
ENSG00000072210	ENST00000578614	J3QKK9
ENSG00000072210	ENST00000578696	J3QS00
ENSG00000072210	ENST00000579855	P51648
ENSG00000072210	ENST00000580550	J3KTG1
ENSG00000072210	ENST00000581518	P51648
ENSG00000072210	ENST00000582991	J3QRD1
ENSG00000072210	ENST00000584332	K7EN73
ENSG00000072210	ENST00000626500	I3L0X1
ENSG00000072210	ENST00000630662	I3L2W1
ENSG00000072210	ENST00000631291	J3QRD1

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Glycolysis / Gluconeogenesis	KEGG	ko00010
Ascorbate and aldarate metabolism	KEGG	ko00053
Fatty acid degradation	KEGG	ko00071
Valine, leucine and isoleucine degradation	KEGG	ko00280
Lysine degradation	KEGG	ko00310
Arginine and proline metabolism	KEGG	ko00330
Histidine metabolism	KEGG	ko00340
Tryptophan metabolism	KEGG	ko00380
beta-Alanine metabolism	KEGG	ko00410
Glycerolipid metabolism	KEGG	ko00561
Pyruvate metabolism	KEGG	ko00620
Glycolysis / Gluconeogenesis	KEGG	hsa00010
Ascorbate and aldarate metabolism	KEGG	hsa00053
Fatty acid degradation	KEGG	hsa00071
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Lysine degradation	KEGG	hsa00310
Arginine and proline metabolism	KEGG	hsa00330
Histidine metabolism	KEGG	hsa00340
Tryptophan metabolism	KEGG	hsa00380
beta-Alanine metabolism	KEGG	hsa00410
Glycerolipid metabolism	KEGG	hsa00561
Pyruvate metabolism	KEGG	hsa00620
Metabolic pathways	KEGG	hsa01100
GABA biosynthesis, eukaryotes, putrescine => GABA	KEGG	hsa_M00135
GABA biosynthesis, eukaryotes, putrescine => GABA	KEGG	M00135
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Peroxisomal lipid metabolism	REACTOME	R-HSA-390918
Alpha-oxidation of phytanate	REACTOME	R-HSA-389599
Sphingolipid metabolism	REACTOME	R-HSA-428157
Sphingolipid de novo biosynthesis	REACTOME	R-HSA-1660661

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18519826	2008	Molecular genetics of successful smoking cessation: convergent genome-wide association study results.	130
22633490	2012	The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway.	53
16996289	2007	Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.	45
15931689	2005	Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).	41
17510064	2007	Dual subcellular localization in the endoplasmic reticulum and peroxisomes and a vital role in protecting against oxidative stress of fatty aldehyde dehydrogenase are achieved by alternative splicing.	29
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
20677014	2010	An approach based on a genome-wide association study reveals candidate loci for narcolepsy.	16
25047030	2014	A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.	16
17971613	2008	Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.	12

Citation

Dessen P

ALDH3A2 (aldehyde dehydrogenase 3 family member A2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46832/aldh3a2-(aldehyde-dehydrogenase-3-family-member-a2)