ALDH1L2 (aldehyde dehydrogenase 1 family member L2) - Rat Genome Database

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Gene: ALDH1L2 (aldehyde dehydrogenase 1 family member L2) Homo sapiens
Analyze
Symbol: ALDH1L2
Name: aldehyde dehydrogenase 1 family member L2
RGD ID: 1345617
HGNC Page HGNC:26777
Description: Enables formyltetrahydrofolate dehydrogenase activity. Involved in 10-formyltetrahydrofolate catabolic process and NADPH regeneration. Located in mitochondrion and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 10-formyltetrahydrofolate dehydrogenase ALDH1L2; aldehyde dehydrogenase 1 family, member L2; aldehyde dehydrogenase family 1 member L2; aldehyde dehydrogenase family 1 member L2, mitochondrial; DKFZp686A16126; DKFZp686M064; DKFZp686P14145; FLJ36769; FLJ38508; MGC119536; MGC119537; mitochondrial 10-formyltetrahydrofolate dehydrogenase; mitochondrial 10-FTHFDH; mtFDH; probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812105,019,790 - 105,084,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12105,019,784 - 105,107,643 (-)EnsemblGRCh38hg38GRCh38
GRCh3712105,413,568 - 105,478,236 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612103,942,332 - 104,002,366 (-)NCBINCBI36Build 36hg18NCBI36
Celera12105,078,239 - 105,142,624 (-)NCBICelera
Cytogenetic Map12q23.3NCBI
HuRef12102,472,652 - 102,538,019 (-)NCBIHuRef
CHM1_112105,379,314 - 105,443,992 (-)NCBICHM1_1
T2T-CHM13v2.012104,981,395 - 105,046,228 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
10-formyltetrahydrofolic acid  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5,6,7,8-tetrahydrofolic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
amitrole  (ISO)
antimycin A  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzethonium chloride  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium trinitrate  (ISO)
clobetasol  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
diclofenac  (ISO)
Didecyldimethylammonium  (EXP)
dimethyl-(phenylmethyl)-[2-[2-[4-(2,4,4-trimethylpentan-2-yl)phenoxy]ethoxy]ethyl]ammonium  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fentin chloride  (ISO)
ferric oxide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
gentamycin  (ISO)
glucose  (ISO)
hydroquinone  (EXP)
indometacin  (EXP)
iodide salt  (ISO)
isobutanol  (EXP)
ivermectin  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lucanthone  (EXP)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
Mitotane  (EXP)
monosodium L-glutamate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paraquat  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP,ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:18029348   PMID:19933275   PMID:20186120   PMID:20379614   PMID:20498374   PMID:20877624   PMID:21238436   PMID:21789175   PMID:21873635   PMID:22082156  
PMID:23382691   PMID:23533145   PMID:24453475   PMID:24981860   PMID:26186194   PMID:26496610   PMID:27025967   PMID:28380382   PMID:28514442   PMID:29117863   PMID:29615496   PMID:29991511  
PMID:30442662   PMID:31056398   PMID:31586073   PMID:31617661   PMID:31871319   PMID:32628020   PMID:32814053   PMID:32877691   PMID:33001583   PMID:33306668   PMID:33961781   PMID:34079125  
PMID:34591877   PMID:34800366   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36398858   PMID:37245210   PMID:37314216   PMID:38113892   PMID:38193334   PMID:38803224   PMID:38923573  


Genomics

Comparative Map Data
ALDH1L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812105,019,790 - 105,084,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12105,019,784 - 105,107,643 (-)EnsemblGRCh38hg38GRCh38
GRCh3712105,413,568 - 105,478,236 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612103,942,332 - 104,002,366 (-)NCBINCBI36Build 36hg18NCBI36
Celera12105,078,239 - 105,142,624 (-)NCBICelera
Cytogenetic Map12q23.3NCBI
HuRef12102,472,652 - 102,538,019 (-)NCBIHuRef
CHM1_112105,379,314 - 105,443,992 (-)NCBICHM1_1
T2T-CHM13v2.012104,981,395 - 105,046,228 (-)NCBIT2T-CHM13v2.0
Aldh1l2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391083,320,386 - 83,370,008 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1083,323,314 - 83,370,004 (-)EnsemblGRCm39 Ensembl
GRCm381083,487,447 - 83,534,146 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1083,487,450 - 83,534,140 (-)EnsemblGRCm38mm10GRCm38
MGSCv371082,950,192 - 82,996,885 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361082,917,249 - 82,963,861 (-)NCBIMGSCv36mm8
Celera1085,474,860 - 85,521,640 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1041.27NCBI
Aldh1l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8722,141,872 - 22,193,403 (+)NCBIGRCr8
mRatBN7.2720,254,246 - 20,305,793 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl720,254,233 - 20,305,776 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx722,226,671 - 22,277,861 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0724,389,426 - 24,440,621 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0724,166,438 - 24,217,632 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0726,375,866 - 26,425,838 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl726,375,866 - 26,425,108 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0726,506,321 - 26,555,206 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4722,398,067 - 22,450,381 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1722,418,181 - 22,469,924 (+)NCBI
Celera717,456,470 - 17,507,229 (+)NCBICelera
Cytogenetic Map7q13NCBI
Aldh1l2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540539,387,527 - 39,437,322 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540539,387,949 - 39,437,282 (-)NCBIChiLan1.0ChiLan1.0
ALDH1L2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210113,084,633 - 113,154,101 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112113,080,726 - 113,174,017 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012102,596,881 - 102,661,617 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112105,992,398 - 106,046,239 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12105,997,045 - 106,056,607 (-)Ensemblpanpan1.1panPan2
ALDH1L2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11033,310,523 - 33,365,677 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1033,310,558 - 33,365,228 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1033,229,898 - 33,285,026 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01034,151,792 - 34,207,579 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1034,151,821 - 34,207,560 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11033,887,203 - 33,942,545 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01034,171,323 - 34,226,449 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01034,364,647 - 34,420,074 (+)NCBIUU_Cfam_GSD_1.0
Aldh1l2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494516,595,327 - 16,651,070 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364929,605,708 - 9,657,743 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364929,605,611 - 9,657,717 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH1L2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl579,492,750 - 79,558,701 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1579,492,672 - 79,558,702 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2582,894,904 - 82,954,624 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH1L2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111100,242,649 - 100,311,164 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11100,247,262 - 100,298,621 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037144,713,789 - 144,779,293 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aldh1l2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247503,912,002 - 3,961,963 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247503,912,030 - 4,054,170 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALDH1L2
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 copy number loss See cases [RCV000051320] Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3		 pathogenic
GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1 copy number loss See cases [RCV000053281] Chr12:104550262..106565399 [GRCh38]
Chr12:104944040..106959177 [GRCh37]
Chr12:103468170..105483307 [NCBI36]
Chr12:12q23.3		 uncertain significance
NM_001034173.3(ALDH1L2):c.1430C>G (p.Ala477Gly) single nucleotide variant Malignant melanoma [RCV000069786] Chr12:105052195 [GRCh38]
Chr12:105445973 [GRCh37]
Chr12:103970103 [NCBI36]
Chr12:12q23.3		 not provided
NM_001034173.3(ALDH1L2):c.2323C>T (p.His775Tyr) single nucleotide variant Malignant melanoma [RCV000062383] Chr12:105031856 [GRCh38]
Chr12:105425634 [GRCh37]
Chr12:103949764 [NCBI36]
Chr12:12q23.3		 not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 copy number loss See cases [RCV000445832] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3 copy number gain See cases [RCV000445929] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001034173.4(ALDH1L2):c.2525A>C (p.Asp842Ala) single nucleotide variant not specified [RCV004319528] Chr12:105026736 [GRCh38]
Chr12:105420514 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.142G>T (p.Val48Leu) single nucleotide variant not specified [RCV004311024] Chr12:105073912 [GRCh38]
Chr12:105467690 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1927G>T (p.Val643Phe) single nucleotide variant not specified [RCV004285720] Chr12:105040631 [GRCh38]
Chr12:105434409 [GRCh37]
Chr12:12q23.3		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1 copy number loss not provided [RCV000846678] Chr12:102414522..105845768 [GRCh37]
Chr12:12q23.2-23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.926C>T (p.Thr309Met) single nucleotide variant not specified [RCV004315968] Chr12:105061748 [GRCh38]
Chr12:105455526 [GRCh37]
Chr12:12q23.3		 likely benign
NM_001034173.4(ALDH1L2):c.317C>G (p.Pro106Arg) single nucleotide variant not specified [RCV004328368] Chr12:105070681 [GRCh38]
Chr12:105464459 [GRCh37]
Chr12:12q23.3		 uncertain significance
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) copy number loss not specified [RCV002053016] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 copy number loss not provided [RCV001834231] Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
GRCh37/hg19 12q23.3(chr12:105440246-105773254) copy number loss not specified [RCV002053017] Chr12:105440246..105773254 [GRCh37]
Chr12:12q23.3		 uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075) copy number gain not specified [RCV002053014] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1220G>A (p.Gly407Asp) single nucleotide variant not specified [RCV004297126] Chr12:105058140 [GRCh38]
Chr12:105451918 [GRCh37]
Chr12:12q23.3		 likely benign
NM_001034173.4(ALDH1L2):c.2243T>C (p.Val748Ala) single nucleotide variant not specified [RCV004140417] Chr12:105034301 [GRCh38]
Chr12:105428079 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.124C>T (p.Arg42Cys) single nucleotide variant not specified [RCV004185487] Chr12:105073930 [GRCh38]
Chr12:105467708 [GRCh37]
Chr12:12q23.3		 likely benign
NM_001034173.4(ALDH1L2):c.877G>A (p.Val293Ile) single nucleotide variant not specified [RCV004215260] Chr12:105062932 [GRCh38]
Chr12:105456710 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2077C>T (p.Leu693Phe) single nucleotide variant not specified [RCV004200807] Chr12:105038171 [GRCh38]
Chr12:105431949 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2761C>G (p.Leu921Val) single nucleotide variant not specified [RCV004095286] Chr12:105024435 [GRCh38]
Chr12:105418213 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2107A>G (p.Ile703Val) single nucleotide variant not specified [RCV004113154] Chr12:105038141 [GRCh38]
Chr12:105431919 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.200C>T (p.Ala67Val) single nucleotide variant not specified [RCV004204698] Chr12:105070798 [GRCh38]
Chr12:105464576 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.29G>C (p.Arg10Pro) single nucleotide variant not specified [RCV004149761] Chr12:105084408 [GRCh38]
Chr12:105478186 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.678G>T (p.Gln226His) single nucleotide variant not specified [RCV004145146] Chr12:105066586 [GRCh38]
Chr12:105460364 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2168A>C (p.Asn723Thr) single nucleotide variant not specified [RCV004199483] Chr12:105034376 [GRCh38]
Chr12:105428154 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.130G>C (p.Glu44Gln) single nucleotide variant not specified [RCV004116009] Chr12:105073924 [GRCh38]
Chr12:105467702 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.259A>G (p.Thr87Ala) single nucleotide variant not specified [RCV004181390] Chr12:105070739 [GRCh38]
Chr12:105464517 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2431G>A (p.Val811Met) single nucleotide variant not specified [RCV004215843] Chr12:105030409 [GRCh38]
Chr12:105424187 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1675G>A (p.Asp559Asn) single nucleotide variant not specified [RCV004077309] Chr12:105049919 [GRCh38]
Chr12:105443697 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.652G>C (p.Glu218Gln) single nucleotide variant not specified [RCV004264483] Chr12:105066612 [GRCh38]
Chr12:105460390 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1614G>C (p.Leu538Phe) single nucleotide variant not specified [RCV004287117] Chr12:105049980 [GRCh38]
Chr12:105443758 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.287G>C (p.Arg96Thr) single nucleotide variant not specified [RCV004340885] Chr12:105070711 [GRCh38]
Chr12:105464489 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.817A>C (p.Asn273His) single nucleotide variant not specified [RCV004347369] Chr12:105062992 [GRCh38]
Chr12:105456770 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1638G>A (p.Met546Ile) single nucleotide variant not specified [RCV004346952] Chr12:105049956 [GRCh38]
Chr12:105443734 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.398C>A (p.Pro133His) single nucleotide variant Neurodevelopmental disorder [RCV003986092] Chr12:105070600 [GRCh38]
Chr12:105464378 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1982A>C (p.His661Pro) single nucleotide variant not specified [RCV004405165] Chr12:105039776 [GRCh38]
Chr12:105433554 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2119T>C (p.Cys707Arg) single nucleotide variant not specified [RCV004405173] Chr12:105038129 [GRCh38]
Chr12:105431907 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1384A>T (p.Thr462Ser) single nucleotide variant not specified [RCV004405131] Chr12:105052835 [GRCh38]
Chr12:105446613 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1420G>A (p.Val474Ile) single nucleotide variant not specified [RCV004405134] Chr12:105052205 [GRCh38]
Chr12:105445983 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1541C>T (p.Ala514Val) single nucleotide variant not specified [RCV004405142] Chr12:105050053 [GRCh38]
Chr12:105443831 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1723C>A (p.Arg575Ser) single nucleotide variant not specified [RCV004405155] Chr12:105046933 [GRCh38]
Chr12:105440711 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.1868C>T (p.Thr623Met) single nucleotide variant not specified [RCV004405158] Chr12:105040690 [GRCh38]
Chr12:105434468 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2198G>A (p.Arg733Gln) single nucleotide variant not specified [RCV004405179] Chr12:105034346 [GRCh38]
Chr12:105428124 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.2389G>A (p.Gly797Arg) single nucleotide variant not specified [RCV004405185] Chr12:105031790 [GRCh38]
Chr12:105425568 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.292G>A (p.Val98Met) single nucleotide variant not specified [RCV004405202] Chr12:105070706 [GRCh38]
Chr12:105464484 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.593T>C (p.Met198Thr) single nucleotide variant not specified [RCV004405212] Chr12:105068720 [GRCh38]
Chr12:105462498 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.640C>T (p.Pro214Ser) single nucleotide variant not specified [RCV004405216] Chr12:105066624 [GRCh38]
Chr12:105460402 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.880A>G (p.Thr294Ala) single nucleotide variant not specified [RCV004405232] Chr12:105062929 [GRCh38]
Chr12:105456707 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.919G>C (p.Ala307Pro) single nucleotide variant not specified [RCV004405235] Chr12:105062890 [GRCh38]
Chr12:105456668 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.230A>T (p.Lys77Met) single nucleotide variant not specified [RCV004627511] Chr12:105070768 [GRCh38]
Chr12:105464546 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_001034173.4(ALDH1L2):c.389C>T (p.Ser130Phe) single nucleotide variant not specified [RCV004627502] Chr12:105070609 [GRCh38]
Chr12:105464387 [GRCh37]
Chr12:12q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3131
Count of miRNA genes:1253
Interacting mature miRNAs:1584
Transcripts:ENST00000258494, ENST00000424857, ENST00000548418, ENST00000549335, ENST00000552270, ENST00000552427
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
407256802GWAS905778_Hvaginal microbiome measurement QTL GWAS905778 (human)0.000008vaginal microbiome measurement12105039829105039830Human
1357361BW37_HBody weight QTL 37 (human)4.080.00001Body fat amount12102836889116423339Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
406998245GWAS647221_Hbody mass index QTL GWAS647221 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)12105062645105062646Human
406917160GWAS566136_Hserum IgG glycosylation measurement QTL GWAS566136 (human)0.000002serum IgG glycosylation measurement12105065019105065020Human
406966571GWAS615547_Hserum IgG glycosylation measurement QTL GWAS615547 (human)0.0000002serum IgG glycosylation measurement12105058664105058665Human
406964077GWAS613053_HCOVID-19 QTL GWAS613053 (human)0.0000005COVID-1912105043868105043869Human
406963217GWAS612193_Hbody height QTL GWAS612193 (human)3e-10body height (VT:0001253)body height (CMO:0000106)12105070258105070259Human
407211476GWAS860452_Hserum metabolite measurement QTL GWAS860452 (human)0.000004serum metabolite measurement12105048408105048409Human
407267799GWAS916775_Hbody height QTL GWAS916775 (human)9e-32body height (VT:0001253)body height (CMO:0000106)12105070258105070259Human
407407964GWAS1056940_HCOVID-19 QTL GWAS1056940 (human)3e-09COVID-1912105044348105044349Human
407229523GWAS878499_HCOVID-19 QTL GWAS878499 (human)0.000001COVID-1912105043298105043299Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human

Markers in Region
D1S1151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,464,561 - 11,464,833UniSTSGRCh37
Celera110,577,151 - 10,577,423UniSTS
Cytogenetic Map12q23.3UniSTS
HuRef110,617,848 - 10,618,146UniSTS
HuRef12102,527,777 - 102,528,041UniSTS
Marshfield Genetic Map124.68UniSTS
Marshfield Genetic Map124.68RGD
RH92214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712105,423,936 - 105,424,058UniSTSGRCh37
Build 3612103,948,066 - 103,948,188RGDNCBI36
Celera12105,088,613 - 105,088,735RGD
Cytogenetic Map12q23.3UniSTS
HuRef12102,483,027 - 102,483,149UniSTS
GeneMap99-GB4 RH Map12414.26UniSTS
RH79585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712105,414,245 - 105,414,450UniSTSGRCh37
Build 3612103,938,375 - 103,938,580RGDNCBI36
Celera12105,078,922 - 105,079,127RGD
Cytogenetic Map12q23.3UniSTS
HuRef12102,473,335 - 102,473,540UniSTS
G59457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712105,414,657 - 105,414,808UniSTSGRCh37
Build 3612103,938,787 - 103,938,938RGDNCBI36
Celera12105,079,334 - 105,079,485RGD
Cytogenetic Map12q23.3UniSTS
HuRef12102,473,747 - 102,473,898UniSTS
TNG Radiation Hybrid Map1249559.0UniSTS
G64838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712105,461,334 - 105,461,560UniSTSGRCh37
Build 3612103,985,464 - 103,985,690RGDNCBI36
Celera12105,125,619 - 105,125,845RGD
Cytogenetic Map12q23.3UniSTS
HuRef12102,520,957 - 102,521,183UniSTS
RH77954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712105,418,049 - 105,418,185UniSTSGRCh37
Build 3612103,942,179 - 103,942,315RGDNCBI36
Celera12105,082,726 - 105,082,862RGD
Cytogenetic Map12q23.3UniSTS
HuRef12102,477,140 - 102,477,276UniSTS
GeneMap99-GB4 RH Map12418.03UniSTS
RH68920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712105,413,777 - 105,413,997UniSTSGRCh37
Build 3612103,937,907 - 103,938,127RGDNCBI36
Celera12105,078,454 - 105,078,674RGD
Cytogenetic Map12q23.3UniSTS
HuRef12102,472,867 - 102,473,087UniSTS
GeneMap99-GB4 RH Map12415.41UniSTS
NCBI RH Map12694.5UniSTS
G69481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712105,435,189 - 105,435,794UniSTSGRCh37
Build 3612103,959,319 - 103,959,924RGDNCBI36
Celera12105,099,476 - 105,100,083RGD
Cytogenetic Map12q23.3UniSTS
HuRef12102,494,543 - 102,495,148UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
G54718  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q23.3UniSTS
HuRef12102,473,729 - 102,473,926UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2431 2788 2248 4971 1701 2325 6 599 1904 440 2267 7226 6427 53 3734 1 847 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001034173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA418450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ292168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000258494   ⟹   ENSP00000258494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12105,019,790 - 105,084,458 (-)Ensembl
Ensembl Acc Id: ENST00000548418   ⟹   ENSP00000447464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12105,030,070 - 105,031,935 (-)Ensembl
Ensembl Acc Id: ENST00000549335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12105,019,784 - 105,066,605 (-)Ensembl
Ensembl Acc Id: ENST00000550088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12105,102,472 - 105,107,179 (-)Ensembl
Ensembl Acc Id: ENST00000552270   ⟹   ENSP00000447538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12105,024,424 - 105,084,458 (-)Ensembl
Ensembl Acc Id: ENST00000552427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12105,070,520 - 105,084,444 (-)Ensembl
Ensembl Acc Id: ENST00000652515   ⟹   ENSP00000499136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12105,019,806 - 105,107,643 (-)Ensembl
RefSeq Acc Id: NM_001034173   ⟹   NP_001029345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,019,790 - 105,084,458 (-)NCBI
GRCh3712105,413,562 - 105,478,341 (-)RGD
Build 3612103,942,332 - 104,002,366 (-)NCBI Archive
Celera12105,078,239 - 105,142,624 (-)RGD
HuRef12102,472,652 - 102,538,019 (-)ENTREZGENE
CHM1_112105,379,314 - 105,443,992 (-)NCBI
T2T-CHM13v2.012104,981,395 - 105,046,228 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027752
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,019,790 - 105,084,458 (-)NCBI
GRCh3712105,413,562 - 105,478,341 (-)RGD
Celera12105,078,239 - 105,142,624 (-)RGD
HuRef12102,472,652 - 102,538,019 (-)ENTREZGENE
CHM1_112105,379,314 - 105,443,992 (-)NCBI
T2T-CHM13v2.012104,981,395 - 105,046,228 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537988   ⟹   XP_011536290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,042,208 - 105,084,458 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537989   ⟹   XP_011536291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,050,489 - 105,084,458 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018890   ⟹   XP_016874379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,050,489 - 105,084,458 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428406   ⟹   XP_047284362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,019,790 - 105,074,350 (-)NCBI
RefSeq Acc Id: XM_047428407   ⟹   XP_047284363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,019,790 - 105,070,649 (-)NCBI
RefSeq Acc Id: XM_054371239   ⟹   XP_054227214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012104,981,395 - 105,036,139 (-)NCBI
RefSeq Acc Id: XM_054371240   ⟹   XP_054227215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012104,981,395 - 105,032,438 (-)NCBI
RefSeq Acc Id: XM_054371241   ⟹   XP_054227216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012105,003,724 - 105,046,228 (-)NCBI
RefSeq Acc Id: XM_054371242   ⟹   XP_054227217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012105,011,866 - 105,046,228 (-)NCBI
RefSeq Acc Id: XM_054371243   ⟹   XP_054227218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012105,011,866 - 105,046,228 (-)NCBI
RefSeq Acc Id: NP_001029345   ⟸   NM_001034173
- Peptide Label: precursor
- UniProtKB: Q6AI55 (UniProtKB/Swiss-Prot),   Q68D62 (UniProtKB/Swiss-Prot),   Q3SY68 (UniProtKB/Swiss-Prot),   Q8N922 (UniProtKB/Swiss-Prot),   Q3SY69 (UniProtKB/Swiss-Prot),   B4DTU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536290   ⟸   XM_011537988
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011536291   ⟸   XM_011537989
- Peptide Label: isoform X5
- UniProtKB: Q3SY69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874379   ⟸   XM_017018890
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000258494   ⟸   ENST00000258494
Ensembl Acc Id: ENSP00000447464   ⟸   ENST00000548418
Ensembl Acc Id: ENSP00000499136   ⟸   ENST00000652515
Ensembl Acc Id: ENSP00000447538   ⟸   ENST00000552270
RefSeq Acc Id: XP_047284362   ⟸   XM_047428406
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284363   ⟸   XM_047428407
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227214   ⟸   XM_054371239
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227215   ⟸   XM_054371240
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227216   ⟸   XM_054371241
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227218   ⟸   XM_054371243
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054227217   ⟸   XM_054371242
- Peptide Label: isoform X4
Protein Domains
Aldehyde dehydrogenase   Carrier

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3SY69-F1-model_v2 AlphaFold Q3SY69 1-923 view protein structure

Promoters
RGD ID:6789636
Promoter ID:HG_KWN:16525
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001034173,   NR_027752
Position:
Human AssemblyChrPosition (strand)Source
Build 3612104,002,124 - 104,002,624 (-)MPROMDB
RGD ID:7225247
Promoter ID:EPDNEW_H18369
Type:initiation region
Name:ALDH1L2_1
Description:aldehyde dehydrogenase 1 family member L2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18370  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,084,458 - 105,084,518EPDNEW
RGD ID:7225249
Promoter ID:EPDNEW_H18370
Type:initiation region
Name:ALDH1L2_2
Description:aldehyde dehydrogenase 1 family member L2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18369  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812105,084,577 - 105,084,637EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26777 AgrOrtholog
COSMIC ALDH1L2 COSMIC
Ensembl Genes ENSG00000136010 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258494 ENTREZGENE
  ENST00000258494.14 UniProtKB/Swiss-Prot
  ENST00000548418.1 UniProtKB/TrEMBL
  ENST00000549335 ENTREZGENE
  ENST00000552270.1 UniProtKB/Swiss-Prot
  ENST00000652515.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.25.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyl transferase, N-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136010 GTEx
HGNC ID HGNC:26777 ENTREZGENE
Human Proteome Map ALDH1L2 Human Proteome Map
InterPro 10_FTHF_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACP-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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
  Formyl_trans_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyl_trans_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyl_transf_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyl_transf_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyl_transferase-like_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GART_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP-bd_ACP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ppantetheine_attach_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:160428 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 160428 ENTREZGENE
OMIM 613584 OMIM
PANTHER ALDEHYDE DEHYDROGENASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MITOCHONDRIAL 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyl_trans_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyl_trans_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134928545 PharmGKB
PIRSF 10-FTHFDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALDEHYDE_DEHYDR_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE_DEHYDR_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARRIER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GART UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHOPANTETHEINE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50486 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53328 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C1M4_HUMAN UniProtKB/TrEMBL
  AL1L2_HUMAN UniProtKB/Swiss-Prot
  B4DTU7 ENTREZGENE, UniProtKB/TrEMBL
  H0YHN9_HUMAN UniProtKB/TrEMBL
  Q3SY68 ENTREZGENE
  Q3SY69 ENTREZGENE
  Q68D62 ENTREZGENE
  Q6AI55 ENTREZGENE
  Q8N922 ENTREZGENE
UniProt Secondary Q3SY68 UniProtKB/Swiss-Prot
  Q68D62 UniProtKB/Swiss-Prot
  Q6AI55 UniProtKB/Swiss-Prot
  Q8N922 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ALDH1L2  aldehyde dehydrogenase 1 family member L2    aldehyde dehydrogenase 1 family, member L2  Symbol and/or name change 5135510 APPROVED