ALDH1A2 (aldehyde dehydrogenase 1 family member A2) - Rat Genome Database

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Gene: ALDH1A2 (aldehyde dehydrogenase 1 family member A2) Homo sapiens
Analyze
Symbol: ALDH1A2
Name: aldehyde dehydrogenase 1 family member A2
RGD ID: 734163
HGNC Page HGNC:15472
Description: Enables retinal dehydrogenase activity. Involved in several processes, including protein homotetramerization; response to retinoic acid; and retinoic acid biosynthetic process. Located in cytoplasm. Implicated in congenital diaphragmatic hernia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: aldehyde dehydrogenase 1 family, member A2; aldehyde dehydrogenase family 1 member A2; aldehyde dehydrogenase family 1, subfamily a2; DIH4; MGC26444; RALDH 2; RALDH(II); RALDH2; RALDH2-T; retinal dehydrogenase 2; retinaldehyde-specific dehydrogenase type 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381557,953,429 - 58,065,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1557,953,424 - 58,497,866 (-)EnsemblGRCh38hg38GRCh38
GRCh371558,245,627 - 58,357,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361556,032,919 - 56,145,198 (-)NCBINCBI36Build 36hg18NCBI36
Build 341556,032,918 - 56,093,527NCBI
Celera1535,135,291 - 35,247,470 (-)NCBICelera
Cytogenetic Map15q21.3NCBI
HuRef1535,068,702 - 35,181,099 (-)NCBIHuRef
CHM1_11558,363,582 - 58,476,117 (-)NCBICHM1_1
T2T-CHM13v2.01555,755,851 - 55,868,018 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-Ethylhexanoic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
22-Hydroxycholesterol  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(diethylamino)benzaldehyde  (EXP)
4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine  (ISO)
4-hydroperoxycyclophosphamide  (EXP)
4-nitrophenol  (ISO)
6-propyl-2-thiouracil  (ISO)
abacavir  (EXP)
acetaldehyde  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinal  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP,ISO)
benzaldehydes  (EXP)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bezafibrate  (ISO)
bictegravir  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
butylated hydroxyanisole  (ISO)
butyric acid  (EXP)
cadmium atom  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
CHIR 99021  (EXP)
chloroprene  (ISO)
choline  (EXP)
citral  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cylindrospermopsin  (EXP)
D-gluconic acid  (ISO)
dabigatran  (EXP)
daidzein  (EXP)
daidzein 7-O-beta-D-glucoside  (EXP)
decanal  (ISO)
deoxycholic acid  (ISO)
dexamethasone  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
diquat  (ISO)
disulfiram  (EXP)
dolutegravir  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Doxylamine succinate  (EXP)
elvitegravir  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethylene glycol  (EXP)
ethylparaben  (EXP)
fenofibrate  (ISO)
fenpropidin  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
genistein 7-O-beta-D-glucoside  (EXP)
gentamycin  (ISO)
geranial  (ISO)
glycitein  (EXP)
glycitin  (EXP)
hexanal  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indirubin-3'-monoxime  (ISO)
indole-3-methanol  (ISO)
isotretinoin  (EXP)
lipopolysaccharide  (EXP,ISO)
methamphetamine  (EXP)
methoxyacetic acid  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
methylparaben  (ISO)
metoclopramide  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nilotinib  (EXP)
nitrofen  (ISO)
ochratoxin A  (ISO)
ozone  (EXP,ISO)
panobinostat  (EXP)
paraquat  (ISO)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
pirinixic acid  (ISO)
pravastatin  (ISO)
progesterone  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sotorasib  (EXP)
spiroxamine  (ISO)
thalidomide  (EXP)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
WIN 18446  (EXP,ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
9-cis-retinoic acid biosynthetic process  (IEA,ISO)
anterior/posterior pattern specification  (IEA,ISO)
blood vessel development  (IEA,ISO)
camera-type eye development  (IEA,ISO)
cardiac muscle tissue development  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to retinoic acid  (IEA)
determination of bilateral symmetry  (IEA,ISO)
embryonic camera-type eye development  (IEA,ISO)
embryonic digestive tract development  (IEA,ISO)
embryonic forelimb morphogenesis  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
face development  (IEA,ISO)
forebrain development  (IEA,ISO)
heart morphogenesis  (IEA,ISO)
hindbrain development  (IEA,ISO)
kidney development  (IEA,ISO)
lipid metabolic process  (IEA)
liver development  (IEA,ISO)
lung development  (IEA,ISO)
midgut development  (IEA,ISO)
morphogenesis of embryonic epithelium  (IEA,ISO)
negative regulation of cell population proliferation  (IDA)
neural crest cell development  (IEA,ISO)
neural tube development  (IMP)
neuron differentiation  (IEA,ISO)
pancreas development  (IEA,ISO)
pituitary gland development  (IEA,ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of gene expression  (IEA,ISO)
protein homotetramerization  (IDA)
proximal/distal pattern formation  (IEA,ISO)
regulation of vascular endothelial cell proliferation  (IEA,ISO)
response to cytokine  (IDA)
response to estradiol  (IEA,ISO)
response to retinoic acid  (IMP)
response to vitamin A  (IEA,ISO)
retinal metabolic process  (IEA,ISO)
retinoic acid biosynthetic process  (IDA,IEA,IMP,ISO)
retinoic acid metabolic process  (IEA,IMP,ISO,ISS)
retinoic acid receptor signaling pathway  (IEA,ISO)
retinoic acid receptor signaling pathway involved in somitogenesis  (IEA,ISO)
retinol metabolic process  (IEA)
ureter maturation  (IEA,ISO)
vitamin A metabolic process  (NAS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Upregulation of retinal dehydrogenase 2 in alternatively activated macrophages during retinoid-dependent type-2 immunity to helminth infection in mice. Broadhurst MJ, etal., PLoS Pathog. 2012;8(8):e1002883. doi: 10.1371/journal.ppat.1002883. Epub 2012 Aug 23.
2. Immunolocalization of retinoic acid biosynthesis systems in selected sites in rat. Everts HB, etal., Exp Cell Res. 2005 Aug 15;308(2):309-19.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. Mitochondrial Aldehyde Dehydrogenase 2 Regulates Revascularization in Chronic Ischemia: Potential Impact on the Development of Coronary Collateral Circulation. Liu X, etal., Arterioscler Thromb Vasc Biol. 2015 Oct;35(10):2196-206. doi: 10.1161/ATVBAHA.115.306012. Epub 2015 Aug 27.
6. Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents. Mey J, etal., Am J Pathol. 2003 Feb;162(2):673-9.
7. Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus). Moerman P, etal., Br Heart J 1980 Oct;44(4):452-9.
8. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
9. Retinaldehyde dehydrogenase 2 is down-regulated during duodenal atresia formation in Fgfr2IIIb-/- mice. Nichol PF, etal., J Surg Res. 2012 Jun 1;175(1):82-7. doi: 10.1016/j.jss.2011.02.040. Epub 2011 Mar 21.
10. The regional pattern of retinoic acid synthesis by RALDH2 is essential for the development of posterior pharyngeal arches and the enteric nervous system. Niederreither K, etal., Development 2003 Jun;130(11):2525-34.
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
13. Haploinsufficiency of retinaldehyde dehydrogenase 2 decreases the severity and incidence of duodenal atresia in the fibroblast growth factor receptor 2IIIb-/- mouse model. Reeder AL, etal., Surgery. 2012 Oct;152(4):768-75; discussion 775-6. doi: 10.1016/j.surg.2012.07.022.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Vermot J, etal., Proc Natl Acad Sci U S A 2003 Feb 18;100(4):1763-8. Epub 2003 Jan 31.
17. Multiple retinol and retinal dehydrogenases catalyze all-trans-retinoic acid biosynthesis in astrocytes. Wang C, etal., J Biol Chem. 2011 Feb 25;286(8):6542-53. Epub 2010 Dec 7.
Additional References at PubMed
PMID:8663198   PMID:8797830   PMID:9819382   PMID:10192400   PMID:11953746   PMID:12477932   PMID:14702039   PMID:14718574   PMID:15489334   PMID:16166285   PMID:16237707   PMID:16368932  
PMID:17266347   PMID:18029348   PMID:18495959   PMID:19343046   PMID:19478994   PMID:19609347   PMID:19703508   PMID:19886994   PMID:20308937   PMID:20375987   PMID:20379614   PMID:20450613  
PMID:21873635   PMID:22930583   PMID:23507523   PMID:23833249   PMID:24121790   PMID:24236815   PMID:24524833   PMID:24728293   PMID:24884875   PMID:25293959   PMID:25524880   PMID:25793304  
PMID:25900982   PMID:26186194   PMID:26366059   PMID:26634247   PMID:27001866   PMID:27015121   PMID:27643404   PMID:28089900   PMID:28514442   PMID:28718761   PMID:29240402   PMID:29568061  
PMID:29732726   PMID:31091453   PMID:31923393   PMID:32545848   PMID:32707033   PMID:32994395   PMID:33378690   PMID:33565183   PMID:33845483   PMID:33916271   PMID:33961781   PMID:34079125  
PMID:34572134   PMID:34709727   PMID:35059888   PMID:35439318   PMID:35987950   PMID:36114006   PMID:36263470   PMID:37827155  


Genomics

Comparative Map Data
ALDH1A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381557,953,429 - 58,065,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1557,953,424 - 58,497,866 (-)EnsemblGRCh38hg38GRCh38
GRCh371558,245,627 - 58,357,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361556,032,919 - 56,145,198 (-)NCBINCBI36Build 36hg18NCBI36
Build 341556,032,918 - 56,093,527NCBI
Celera1535,135,291 - 35,247,470 (-)NCBICelera
Cytogenetic Map15q21.3NCBI
HuRef1535,068,702 - 35,181,099 (-)NCBIHuRef
CHM1_11558,363,582 - 58,476,117 (-)NCBICHM1_1
T2T-CHM13v2.01555,755,851 - 55,868,018 (-)NCBIT2T-CHM13v2.0
Aldh1a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39971,123,071 - 71,203,525 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl971,123,071 - 71,203,525 (+)EnsemblGRCm39 Ensembl
GRCm38971,215,789 - 71,296,243 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl971,215,789 - 71,296,243 (+)EnsemblGRCm38mm10GRCm38
MGSCv37971,063,596 - 71,144,050 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36971,014,409 - 71,094,803 (+)NCBIMGSCv36mm8
Celera968,414,967 - 68,495,534 (+)NCBICelera
Cytogenetic Map9DNCBI
cM Map939.85NCBI
Aldh1a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8880,758,641 - 80,837,891 (+)NCBIGRCr8
mRatBN7.2871,877,850 - 71,957,107 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl871,877,850 - 71,957,107 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx877,412,501 - 77,491,856 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0875,685,476 - 75,764,833 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0873,522,516 - 73,601,878 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0877,640,234 - 77,719,488 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl877,640,222 - 77,719,489 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0875,363,285 - 75,442,554 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4875,692,099 - 75,771,159 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1875,711,165 - 75,790,204 (+)NCBI
Celera869,779,737 - 69,858,993 (-)NCBICelera
Cytogenetic Map8q24NCBI
Aldh1a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545016,406,436 - 16,453,180 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545016,406,578 - 16,453,048 (+)NCBIChiLan1.0ChiLan1.0
ALDH1A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21647,196,709 - 47,377,143 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11551,379,387 - 51,559,409 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01536,925,443 - 37,038,288 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11555,237,101 - 55,349,851 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1555,237,101 - 55,557,168 (-)Ensemblpanpan1.1panPan2
ALDH1A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13023,074,432 - 23,170,374 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3023,074,432 - 23,340,030 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3023,045,955 - 23,141,851 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03023,233,206 - 23,329,111 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3023,233,206 - 23,498,331 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13023,164,758 - 23,260,609 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03023,250,334 - 23,346,246 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03023,392,036 - 23,488,058 (-)NCBIUU_Cfam_GSD_1.0
Aldh1a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640101,327,905 - 101,415,451 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647119,175,992 - 19,263,335 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647119,175,997 - 19,263,335 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH1A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1113,932,739 - 114,037,046 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11113,932,722 - 114,037,059 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21126,038,541 - 126,105,080 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH1A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12625,439,159 - 25,557,199 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2625,439,360 - 25,557,202 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048115,756,952 - 115,875,731 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aldh1a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478113,756,390 - 13,845,479 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478113,756,469 - 13,845,253 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALDH1A2
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003888.3(ALDH1A2):c.118-9679C>A single nucleotide variant Lung cancer [RCV000099586] Chr15:58023960 [GRCh38]
Chr15:58316158 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1 copy number loss See cases [RCV000050884] Chr15:57456076..61907285 [GRCh38]
Chr15:57748274..62199484 [GRCh37]
Chr15:55535566..59986776 [NCBI36]
Chr15:15q21.3-22.2		 pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic
GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1 copy number loss See cases [RCV000051622] Chr15:57567950..63019415 [GRCh38]
Chr15:57860148..63311614 [GRCh37]
Chr15:55647440..61098667 [NCBI36]
Chr15:15q21.3-22.2		 pathogenic
NM_003888.3(ALDH1A2):c.1536G>A (p.Lys512=) single nucleotide variant Malignant melanoma [RCV000070836] Chr15:57955218 [GRCh38]
Chr15:58247416 [GRCh37]
Chr15:56034708 [NCBI36]
Chr15:15q21.3		 not provided
NM_003888.3(ALDH1A2):c.1290G>A (p.Thr430=) single nucleotide variant Malignant melanoma [RCV000070837] Chr15:57961256 [GRCh38]
Chr15:58253454 [GRCh37]
Chr15:56040746 [NCBI36]
Chr15:15q21.3		 not provided
NM_003888.3(ALDH1A2):c.222+1G>A single nucleotide variant Malignant melanoma [RCV000070838] Chr15:58014176 [GRCh38]
Chr15:58306374 [GRCh37]
Chr15:56093666 [NCBI36]
Chr15:15q21.3		 not provided
NM_003888.4(ALDH1A2):c.544C>A (p.Gln182Lys) single nucleotide variant Diaphragmatic hernia 4, with cardiovascular defects [RCV002280840] Chr15:57995089 [GRCh38]
Chr15:58287287 [GRCh37]
Chr15:15q21.3		 pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1 copy number loss See cases [RCV000446622] Chr15:54713558..62769295 [GRCh37]
Chr15:15q21.3-22.2		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3 copy number gain See cases [RCV000511567] Chr15:57518653..58974175 [GRCh37]
Chr15:15q21.3		 likely pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1 copy number loss See cases [RCV000510898] Chr15:58088503..62221756 [GRCh37]
Chr15:15q21.3-22.2		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_003888.4(ALDH1A2):c.530T>C (p.Ile177Thr) single nucleotide variant Inborn genetic diseases [RCV003246429] Chr15:57995103 [GRCh38]
Chr15:58287301 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh37/hg19 15q21.3(chr15:57608623-59029582)x3 copy number gain not provided [RCV000683698] Chr15:57608623..59029582 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_003888.4(ALDH1A2):c.364-161G>A single nucleotide variant not provided [RCV001691414] Chr15:58010939 [GRCh38]
Chr15:58303137 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.799-216C>T single nucleotide variant not provided [RCV001612538] Chr15:57966043 [GRCh38]
Chr15:58258241 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.555+287A>G single nucleotide variant not provided [RCV001679133] Chr15:57994791 [GRCh38]
Chr15:58286989 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1251+32A>T single nucleotide variant not provided [RCV001668797] Chr15:57961980 [GRCh38]
Chr15:58254178 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1485-201_1485-199del microsatellite not provided [RCV001612698] Chr15:57955468..57955470 [GRCh38]
Chr15:58247666..58247668 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.453A>G (p.Ala151=) single nucleotide variant ALDH1A2-related condition [RCV003928500]|not provided [RCV000970884] Chr15:58010689 [GRCh38]
Chr15:58302887 [GRCh37]
Chr15:15q21.3		 benign|likely benign
NM_003888.4(ALDH1A2):c.1542C>G (p.Pro514=) single nucleotide variant not provided [RCV000926171] Chr15:57955212 [GRCh38]
Chr15:58247410 [GRCh37]
Chr15:15q21.3		 likely benign
NM_003888.4(ALDH1A2):c.1235G>A (p.Arg412Gln) single nucleotide variant not provided [RCV000923673] Chr15:57962028 [GRCh38]
Chr15:58254226 [GRCh37]
Chr15:15q21.3		 likely benign
NM_003888.4(ALDH1A2):c.1521G>C (p.Lys507Asn) single nucleotide variant Inborn genetic diseases [RCV003266781] Chr15:57955233 [GRCh38]
Chr15:58247431 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_003888.4(ALDH1A2):c.901+76G>A single nucleotide variant not provided [RCV001643721] Chr15:57965649 [GRCh38]
Chr15:58257847 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1410-20G>A single nucleotide variant not provided [RCV001687981] Chr15:57960864 [GRCh38]
Chr15:58253062 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1484+117C>T single nucleotide variant not provided [RCV001695723] Chr15:57960653 [GRCh38]
Chr15:58252851 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.118-72C>T single nucleotide variant not provided [RCV001721709] Chr15:58014353 [GRCh38]
Chr15:58306551 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1409+66A>C single nucleotide variant not provided [RCV001613914] Chr15:57961071 [GRCh38]
Chr15:58253269 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.364-189G>A single nucleotide variant not provided [RCV001682354] Chr15:58010967 [GRCh38]
Chr15:58303165 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1410-64A>G single nucleotide variant not provided [RCV001639942] Chr15:57960908 [GRCh38]
Chr15:58253106 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.364-26G>C single nucleotide variant not provided [RCV001681992] Chr15:58010804 [GRCh38]
Chr15:58303002 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.556-117G>T single nucleotide variant not provided [RCV001611733] Chr15:57993190 [GRCh38]
Chr15:58285388 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.494-189T>C single nucleotide variant not provided [RCV001650415] Chr15:57995328 [GRCh38]
Chr15:58287526 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1254C>A (p.Ile418=) single nucleotide variant ALDH1A2-related condition [RCV003905825]|not provided [RCV000960952] Chr15:57961292 [GRCh38]
Chr15:58253490 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.118-314T>C single nucleotide variant not provided [RCV001609297] Chr15:58014595 [GRCh38]
Chr15:58306793 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1484+10A>C single nucleotide variant not provided [RCV000957940] Chr15:57960760 [GRCh38]
Chr15:58252958 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1251+221TTA[2] microsatellite not provided [RCV001619121] Chr15:57961783..57961785 [GRCh38]
Chr15:58253981..58253983 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.493+290T>C single nucleotide variant not provided [RCV001689195] Chr15:58010359 [GRCh38]
Chr15:58302557 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.798+246G>T single nucleotide variant not provided [RCV001619992] Chr15:57992459 [GRCh38]
Chr15:58284657 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.902-29G>A single nucleotide variant not provided [RCV001657230] Chr15:57964098 [GRCh38]
Chr15:58256296 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.556-324T>C single nucleotide variant not provided [RCV001690949] Chr15:57993397 [GRCh38]
Chr15:58285595 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1484+234G>A single nucleotide variant not provided [RCV001689558] Chr15:57960536 [GRCh38]
Chr15:58252734 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.1485-96G>C single nucleotide variant not provided [RCV001695294] Chr15:57955365 [GRCh38]
Chr15:58247563 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.799-317T>C single nucleotide variant not provided [RCV001671926] Chr15:57966144 [GRCh38]
Chr15:58258342 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.494-136C>T single nucleotide variant not provided [RCV001696559] Chr15:57995275 [GRCh38]
Chr15:58287473 [GRCh37]
Chr15:15q21.3		 benign
GRCh37/hg19 15q21.3(chr15:57414627-58960510)x3 copy number gain not provided [RCV001259696] Chr15:57414627..58960510 [GRCh37]
Chr15:15q21.3		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_003888.4(ALDH1A2):c.494-98G>T single nucleotide variant not provided [RCV001538440] Chr15:57995237 [GRCh38]
Chr15:58287435 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.117+314del deletion not provided [RCV001692691] Chr15:58065220 [GRCh38]
Chr15:58357418 [GRCh37]
Chr15:15q21.3		 benign
GRCh37/hg19 15q21.3(chr15:58292124-58323958) copy number loss not specified [RCV002052481] Chr15:58292124..58323958 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_003888.4(ALDH1A2):c.1503G>A (p.Arg501=) single nucleotide variant ALDH1A2-related condition [RCV003926323]|not provided [RCV002211305] Chr15:57955251 [GRCh38]
Chr15:58247449 [GRCh37]
Chr15:15q21.3		 likely benign
NM_003888.4(ALDH1A2):c.850A>G (p.Thr284Ala) single nucleotide variant not provided [RCV002211306] Chr15:57965776 [GRCh38]
Chr15:58257974 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_003888.4(ALDH1A2):c.451G>T (p.Ala151Ser) single nucleotide variant ALDH1A2-related condition [RCV003933710]|not specified [RCV002246934] Chr15:58010691 [GRCh38]
Chr15:58302889 [GRCh37]
Chr15:15q21.3		 benign|likely benign
NM_003888.4(ALDH1A2):c.838T>G (p.Leu280Val) single nucleotide variant Inborn genetic diseases [RCV003277455] Chr15:57965788 [GRCh38]
Chr15:58257986 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_003888.4(ALDH1A2):c.1147G>A (p.Ala383Thr) single nucleotide variant Diaphragmatic hernia 4, with cardiovascular defects [RCV002280842] Chr15:57962116 [GRCh38]
Chr15:58254314 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_003888.4(ALDH1A2):c.1040G>A (p.Arg347His) single nucleotide variant Diaphragmatic hernia 4, with cardiovascular defects [RCV002280843] Chr15:57963931 [GRCh38]
Chr15:58256129 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr) single nucleotide variant Diaphragmatic hernia 4, with cardiovascular defects [RCV002280841] Chr15:57961164 [GRCh38]
Chr15:58253362 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_003888.4(ALDH1A2):c.1382C>G (p.Ser461Cys) single nucleotide variant Inborn genetic diseases [RCV003282010] Chr15:57961164 [GRCh38]
Chr15:58253362 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_003888.4(ALDH1A2):c.28G>C (p.Gly10Arg) single nucleotide variant Inborn genetic diseases [RCV002728065] Chr15:58065623 [GRCh38]
Chr15:58357821 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_003888.4(ALDH1A2):c.1541C>T (p.Pro514Leu) single nucleotide variant Inborn genetic diseases [RCV002689364] Chr15:57955213 [GRCh38]
Chr15:58247411 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_003888.4(ALDH1A2):c.1540C>G (p.Pro514Ala) single nucleotide variant Inborn genetic diseases [RCV002888346] Chr15:57955214 [GRCh38]
Chr15:58247412 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_003888.4(ALDH1A2):c.203A>G (p.Glu68Gly) single nucleotide variant Inborn genetic diseases [RCV002712805] Chr15:58014196 [GRCh38]
Chr15:58306394 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_003888.4(ALDH1A2):c.92C>T (p.Pro31Leu) single nucleotide variant Inborn genetic diseases [RCV002900975] Chr15:58065559 [GRCh38]
Chr15:58357757 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1 copy number loss not provided [RCV003483234] Chr15:54020810..62086530 [GRCh37]
Chr15:15q21.3-22.2		 pathogenic
NM_003888.4(ALDH1A2):c.258G>A (p.Leu86=) single nucleotide variant not provided [RCV003394876] Chr15:58013963 [GRCh38]
Chr15:58306161 [GRCh37]
Chr15:15q21.3		 likely benign
NM_003888.4(ALDH1A2):c.1146C>T (p.Gly382=) single nucleotide variant not provided [RCV003390503] Chr15:57962117 [GRCh38]
Chr15:58254315 [GRCh37]
Chr15:15q21.3		 likely benign
NM_003888.4(ALDH1A2):c.49G>A (p.Ala17Thr) single nucleotide variant ALDH1A2-related condition [RCV003939263]|not provided [RCV003885758] Chr15:58065602 [GRCh38]
Chr15:58357800 [GRCh37]
Chr15:15q21.3		 likely benign
NM_003888.4(ALDH1A2):c.223-6dup duplication ALDH1A2-related condition [RCV003914407] Chr15:58014003..58014004 [GRCh38]
Chr15:58306201..58306202 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.-6G>A single nucleotide variant ALDH1A2-related condition [RCV003982490] Chr15:58065656 [GRCh38]
Chr15:58357854 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.735G>A (p.Thr245=) single nucleotide variant ALDH1A2-related condition [RCV003914452] Chr15:57992768 [GRCh38]
Chr15:58284966 [GRCh37]
Chr15:15q21.3		 benign
NM_003888.4(ALDH1A2):c.111C>T (p.Tyr37=) single nucleotide variant ALDH1A2-related condition [RCV003969281] Chr15:58065540 [GRCh38]
Chr15:58357738 [GRCh37]
Chr15:15q21.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6714
Count of miRNA genes:1303
Interacting mature miRNAs:1676
Transcripts:ENST00000249750, ENST00000347587, ENST00000430119, ENST00000537372, ENST00000557967, ENST00000558073, ENST00000558231, ENST00000558239, ENST00000558384, ENST00000558504, ENST00000558524, ENST00000558595, ENST00000558603, ENST00000558946, ENST00000559266, ENST00000559297, ENST00000559517, ENST00000559579, ENST00000559625, ENST00000560122, ENST00000560312, ENST00000560863, ENST00000560923, ENST00000561070, ENST00000561098
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-79179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,341,778 - 58,342,109UniSTSGRCh37
Build 361556,129,070 - 56,129,401RGDNCBI36
Celera1535,231,345 - 35,231,676RGD
Cytogenetic Map15q21.3UniSTS
HuRef1535,164,757 - 35,165,088UniSTS
TNG Radiation Hybrid Map1520286.0UniSTS
RH123050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,254,468 - 58,254,670UniSTSGRCh37
Build 361556,041,760 - 56,041,962RGDNCBI36
Celera1535,144,132 - 35,144,334RGD
Cytogenetic Map15q21.3UniSTS
HuRef1535,077,565 - 35,077,767UniSTS
TNG Radiation Hybrid Map1520316.0UniSTS
G17842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,338,185 - 58,338,378UniSTSGRCh37
Build 361556,125,477 - 56,125,670RGDNCBI36
Celera1535,227,752 - 35,227,945RGD
Cytogenetic Map15q21.3UniSTS
HuRef1535,161,164 - 35,161,357UniSTS
STS-AA036780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,245,639 - 58,245,853UniSTSGRCh37
Build 361556,032,931 - 56,033,145RGDNCBI36
Celera1535,135,303 - 35,135,517RGD
Cytogenetic Map15q21.3UniSTS
HuRef1535,068,719 - 35,068,933UniSTS
GeneMap99-GB4 RH Map15203.12UniSTS
ALDH1A2_1803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,245,484 - 58,246,361UniSTSGRCh37
Build 361556,032,776 - 56,033,653RGDNCBI36
Celera1535,135,148 - 35,136,025RGD
HuRef1535,068,564 - 35,069,441UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 118 364 221 6 16 6 119 115 224 112 997 93 1 422 10
Low 1636 2094 1338 555 657 412 3871 2014 2031 247 356 1253 146 1 779 2695 1
Below cutoff 615 521 150 57 984 41 342 41 1433 55 79 211 24 3 83 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_170696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_170697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA447978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB015226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB015227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB015228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB015229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI459110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX443600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB458699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ322171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000249750   ⟹   ENSP00000249750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,953,429 - 58,065,711 (-)Ensembl
RefSeq Acc Id: ENST00000347587   ⟹   ENSP00000309623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,953,431 - 58,065,738 (-)Ensembl
RefSeq Acc Id: ENST00000430119   ⟹   ENSP00000416754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,953,820 - 58,065,668 (-)Ensembl
RefSeq Acc Id: ENST00000537372   ⟹   ENSP00000438296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,953,424 - 58,065,923 (-)Ensembl
RefSeq Acc Id: ENST00000557967   ⟹   ENSP00000454028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,013,906 - 58,138,825 (-)Ensembl
RefSeq Acc Id: ENST00000558073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,013,938 - 58,279,270 (-)Ensembl
RefSeq Acc Id: ENST00000558231   ⟹   ENSP00000453600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,955,063 - 58,279,263 (-)Ensembl
RefSeq Acc Id: ENST00000558239   ⟹   ENSP00000453292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,013,858 - 58,473,913 (-)Ensembl
RefSeq Acc Id: ENST00000558384   ⟹   ENSP00000453734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,953,425 - 57,955,269 (-)Ensembl
RefSeq Acc Id: ENST00000558504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,138,447 - 58,279,227 (-)Ensembl
RefSeq Acc Id: ENST00000558524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,246,183 - 58,259,051 (-)Ensembl
RefSeq Acc Id: ENST00000558595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,012,089 - 58,065,711 (-)Ensembl
RefSeq Acc Id: ENST00000558603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,257,448 - 58,331,379 (-)Ensembl
RefSeq Acc Id: ENST00000558946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,246,183 - 58,331,630 (-)Ensembl
RefSeq Acc Id: ENST00000559266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,992,783 - 58,038,582 (-)Ensembl
RefSeq Acc Id: ENST00000559297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,013,986 - 58,279,321 (-)Ensembl
RefSeq Acc Id: ENST00000559517   ⟹   ENSP00000453408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,955,167 - 58,014,101 (-)Ensembl
RefSeq Acc Id: ENST00000559579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,214,054 - 58,279,321 (-)Ensembl
RefSeq Acc Id: ENST00000559625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,241,900 - 58,246,265 (-)Ensembl
RefSeq Acc Id: ENST00000560122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,014,261 - 58,279,280 (-)Ensembl
RefSeq Acc Id: ENST00000560312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,953,429 - 57,964,791 (-)Ensembl
RefSeq Acc Id: ENST00000560863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,107,417 - 58,497,866 (-)Ensembl
RefSeq Acc Id: ENST00000560923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,991,424 - 57,995,139 (-)Ensembl
RefSeq Acc Id: ENST00000561070   ⟹   ENSP00000452850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1557,995,090 - 58,036,723 (-)Ensembl
RefSeq Acc Id: ENST00000561098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,257,448 - 58,331,464 (-)Ensembl
RefSeq Acc Id: NM_001206897   ⟹   NP_001193826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381557,953,429 - 58,065,711 (-)NCBI
GRCh371558,245,622 - 58,358,121 (-)ENTREZGENE
HuRef1535,068,702 - 35,181,099 (-)ENTREZGENE
CHM1_11558,363,582 - 58,476,117 (-)NCBI
T2T-CHM13v2.01555,755,851 - 55,868,018 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003888   ⟹   NP_003879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381557,953,429 - 58,065,711 (-)NCBI
GRCh371558,245,622 - 58,358,121 (-)ENTREZGENE
Build 361556,032,919 - 56,145,198 (-)NCBI Archive
HuRef1535,068,702 - 35,181,099 (-)ENTREZGENE
CHM1_11558,363,582 - 58,476,117 (-)NCBI
T2T-CHM13v2.01555,755,851 - 55,868,018 (-)NCBI
Sequence:
RefSeq Acc Id: NM_170696   ⟹   NP_733797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381557,953,429 - 58,065,711 (-)NCBI
GRCh371558,245,622 - 58,358,121 (-)ENTREZGENE
Build 361556,032,919 - 56,145,198 (-)NCBI Archive
HuRef1535,068,702 - 35,181,099 (-)ENTREZGENE
CHM1_11558,363,582 - 58,476,117 (-)NCBI
T2T-CHM13v2.01555,755,851 - 55,868,018 (-)NCBI
Sequence:
RefSeq Acc Id: NM_170697   ⟹   NP_733798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381557,953,429 - 58,014,023 (-)NCBI
GRCh371558,245,622 - 58,358,121 (-)ENTREZGENE
Build 361556,032,919 - 56,093,527 (-)NCBI Archive
HuRef1535,068,702 - 35,181,099 (-)ENTREZGENE
CHM1_11558,363,582 - 58,424,287 (-)NCBI
T2T-CHM13v2.01555,755,851 - 55,816,330 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_733797   ⟸   NM_170696
- Peptide Label: isoform 2
- UniProtKB: H0YMG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003879   ⟸   NM_003888
- Peptide Label: isoform 1
- UniProtKB: Q9UBR8 (UniProtKB/Swiss-Prot),   Q8NHQ4 (UniProtKB/Swiss-Prot),   Q2PJS6 (UniProtKB/Swiss-Prot),   H0YM00 (UniProtKB/Swiss-Prot),   F5H2Y9 (UniProtKB/Swiss-Prot),   B4DZR2 (UniProtKB/Swiss-Prot),   B3KY52 (UniProtKB/Swiss-Prot),   Q9UFY0 (UniProtKB/Swiss-Prot),   O94788 (UniProtKB/Swiss-Prot),   H0YMG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193826   ⟸   NM_001206897
- Peptide Label: isoform 4
- UniProtKB: H0YMG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_733798   ⟸   NM_170697
- Peptide Label: isoform 3
- UniProtKB: H0YMG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000309623   ⟸   ENST00000347587
RefSeq Acc Id: ENSP00000454028   ⟸   ENST00000557967
RefSeq Acc Id: ENSP00000453600   ⟸   ENST00000558231
RefSeq Acc Id: ENSP00000453292   ⟸   ENST00000558239
RefSeq Acc Id: ENSP00000453734   ⟸   ENST00000558384
RefSeq Acc Id: ENSP00000453408   ⟸   ENST00000559517
RefSeq Acc Id: ENSP00000452850   ⟸   ENST00000561070
RefSeq Acc Id: ENSP00000438296   ⟸   ENST00000537372
RefSeq Acc Id: ENSP00000416754   ⟸   ENST00000430119
RefSeq Acc Id: ENSP00000249750   ⟸   ENST00000249750
Protein Domains
Aldehyde dehydrogenase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94788-F1-model_v2 AlphaFold O94788 1-518 view protein structure

Promoters
RGD ID:6792085
Promoter ID:HG_KWN:21501
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562
Transcripts:NM_170697
Position:
Human AssemblyChrPosition (strand)Source
Build 361556,093,389 - 56,093,889 (-)MPROMDB
RGD ID:6792086
Promoter ID:HG_KWN:21502
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:ENST00000347587,   OTTHUMT00000255869
Position:
Human AssemblyChrPosition (strand)Source
Build 361556,145,221 - 56,146,032 (-)MPROMDB
RGD ID:7229643
Promoter ID:EPDNEW_H20567
Type:initiation region
Name:ALDH1A2_4
Description:aldehyde dehydrogenase 1 family member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20568  EPDNEW_H20569  EPDNEW_H20570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,014,015 - 58,014,075EPDNEW
RGD ID:7229645
Promoter ID:EPDNEW_H20568
Type:initiation region
Name:ALDH1A2_1
Description:aldehyde dehydrogenase 1 family member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20567  EPDNEW_H20569  EPDNEW_H20570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,065,711 - 58,065,771EPDNEW
RGD ID:7229647
Promoter ID:EPDNEW_H20569
Type:initiation region
Name:ALDH1A2_2
Description:aldehyde dehydrogenase 1 family member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20567  EPDNEW_H20568  EPDNEW_H20570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,065,878 - 58,065,938EPDNEW
RGD ID:7229649
Promoter ID:EPDNEW_H20570
Type:initiation region
Name:ALDH1A2_3
Description:aldehyde dehydrogenase 1 family member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20567  EPDNEW_H20568  EPDNEW_H20569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,066,418 - 58,066,478EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15472 AgrOrtholog
COSMIC ALDH1A2 COSMIC
Ensembl Genes ENSG00000128918 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000249750 ENTREZGENE
  ENST00000249750.9 UniProtKB/Swiss-Prot
  ENST00000347587 ENTREZGENE
  ENST00000347587.7 UniProtKB/Swiss-Prot
  ENST00000430119.6 UniProtKB/TrEMBL
  ENST00000537372 ENTREZGENE
  ENST00000537372.5 UniProtKB/Swiss-Prot
  ENST00000557967.5 UniProtKB/TrEMBL
  ENST00000558231.5 UniProtKB/TrEMBL
  ENST00000558239.5 UniProtKB/TrEMBL
  ENST00000558384.1 UniProtKB/TrEMBL
  ENST00000559517 ENTREZGENE
  ENST00000559517.5 UniProtKB/Swiss-Prot
  ENST00000561070.5 UniProtKB/TrEMBL
GTEx ENSG00000128918 GTEx
HGNC ID HGNC:15472 ENTREZGENE
Human Proteome Map ALDH1A2 Human Proteome Map
InterPro Ald_DH/histidinol_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde_DH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8854 UniProtKB/Swiss-Prot
NCBI Gene 8854 ENTREZGENE
OMIM 603687 OMIM
PANTHER ALDEHYDE DEHYDROGENASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINAL DEHYDROGENASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24693 PharmGKB
PROSITE ALDEHYDE_DEHYDR_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE_DEHYDR_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JL97_HUMAN UniProtKB/TrEMBL
  AL1A2_HUMAN UniProtKB/Swiss-Prot
  B3KY52 ENTREZGENE
  B4DZR2 ENTREZGENE
  E9PF31_HUMAN UniProtKB/TrEMBL
  F5H2Y9 ENTREZGENE
  H0YKL3_HUMAN UniProtKB/TrEMBL
  H0YM00 ENTREZGENE
  H0YMG7 ENTREZGENE, UniProtKB/TrEMBL
  H0YMT5_HUMAN UniProtKB/TrEMBL
  O94788 ENTREZGENE
  Q2PJS6 ENTREZGENE
  Q8NHQ4 ENTREZGENE
  Q9UBR8 ENTREZGENE
  Q9UED3_HUMAN UniProtKB/TrEMBL
  Q9UFY0 ENTREZGENE
UniProt Secondary B3KY52 UniProtKB/Swiss-Prot
  B4DZR2 UniProtKB/Swiss-Prot
  F5H2Y9 UniProtKB/Swiss-Prot
  H0YM00 UniProtKB/Swiss-Prot
  Q2PJS6 UniProtKB/Swiss-Prot
  Q8NHQ4 UniProtKB/Swiss-Prot
  Q9UBR8 UniProtKB/Swiss-Prot
  Q9UFY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ALDH1A2  aldehyde dehydrogenase 1 family member A2    aldehyde dehydrogenase 1 family, member A2  Symbol and/or name change 5135510 APPROVED