ACADL (acyl-CoA dehydrogenase long chain) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ACADL (acyl-CoA dehydrogenase long chain) Homo sapiens
Analyze
Symbol: ACADL
Name: acyl-CoA dehydrogenase long chain
RGD ID: 733759
HGNC Page HGNC:88
Description: Predicted to enable flavin adenine dinucleotide binding activity; long-chain fatty acyl-CoA dehydrogenase activity; and palmitoyl-CoA oxidase activity. Predicted to be involved in several processes, including carnitine metabolic process; fatty acid catabolic process; and regulation of lipid metabolic process. Predicted to act upstream of or within fatty acid catabolic process and response to cold. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACAD4; acetyl-coenzyme a dehydrogenase, long-chain; acyl-CoA dehydrogenase, long chain; acyl-Coenzyme A dehydrogenase, long chain; FLJ94052; LCAD; long-chain acyl-CoA dehydrogenase; long-chain specific acyl-CoA dehydrogenase, mitochondrial
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
GRCh382210,187,923 - 210,225,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2210,187,126 - 210,225,447 (-)EnsemblGRCh38hg38GRCh38
GRCh372211,052,647 - 211,090,171 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362210,760,959 - 210,798,392 (-)NCBINCBI36Build 36hg18NCBI36
Build 342210,878,223 - 210,915,653NCBI
Celera2204,820,713 - 204,858,229 (-)NCBICelera
Cytogenetic Map2q34ENTREZGENE
HuRef2202,897,948 - 202,935,464 (-)NCBIHuRef
CHM1_12211,058,802 - 211,096,307 (-)NCBICHM1_1
T2T-CHM13v2.02210,668,601 - 210,706,298 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
Alisol B  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
aripiprazole  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (EXP)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
fenofibrate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
glucose  (EXP)
glyphosate  (ISO)
GW 4064  (EXP)
GW 7647  (EXP)
hexadecanoic acid  (EXP)
indometacin  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lipoic acid  (ISO)
meldonium  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
microcystin-LR  (ISO)
Monobutylphthalate  (ISO)
monosodium L-glutamate  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
oleic acid  (EXP)
omeprazole  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sirolimus  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sodium nitrate  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroacetic acid  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Acyl-CoA dehydrogenases. A mechanistic overview. Ghisla S and Thorpe C, Eur J Biochem. 2004 Feb;271(3):494-508.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme. Ikeda Y, etal., J Biol Chem. 1985 Jan 25;260(2):1311-25.
4. Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. Indo Y, etal., Genomics 1991 Nov;11(3):609-20.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. RefSeq and LocusLink: NCBI gene-centered resources Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1438359   PMID:1559716   PMID:1607358   PMID:1945557   PMID:2000272   PMID:4022672   PMID:8739959   PMID:9003458   PMID:9714723   PMID:9802886   PMID:10832093   PMID:12477932  
PMID:17500595   PMID:18029348   PMID:18660489   PMID:19913121   PMID:20037589   PMID:20363655   PMID:20628086   PMID:20877624   PMID:21873635   PMID:23281178   PMID:24121500   PMID:24586186  
PMID:24591516   PMID:24816252   PMID:26186194   PMID:28514442   PMID:30021884   PMID:30575818   PMID:31234015   PMID:32296183   PMID:32389575   PMID:33060197   PMID:33610471   PMID:33961781  
PMID:34800366   PMID:36929466   PMID:37151879   PMID:38594588  


Genomics

Comparative Map Data
ACADL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382210,187,923 - 210,225,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2210,187,126 - 210,225,447 (-)EnsemblGRCh38hg38GRCh38
GRCh372211,052,647 - 211,090,171 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362210,760,959 - 210,798,392 (-)NCBINCBI36Build 36hg18NCBI36
Build 342210,878,223 - 210,915,653NCBI
Celera2204,820,713 - 204,858,229 (-)NCBICelera
Cytogenetic Map2q34ENTREZGENE
HuRef2202,897,948 - 202,935,464 (-)NCBIHuRef
CHM1_12211,058,802 - 211,096,307 (-)NCBICHM1_1
T2T-CHM13v2.02210,668,601 - 210,706,298 (-)NCBIT2T-CHM13v2.0
Acadl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39166,869,998 - 66,902,468 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl166,869,998 - 66,902,436 (-)EnsemblGRCm39 Ensembl
GRCm38166,830,839 - 66,863,309 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl166,830,839 - 66,863,277 (-)EnsemblGRCm38mm10GRCm38
MGSCv37166,877,427 - 66,909,841 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36166,764,061 - 66,796,475 (-)NCBIMGSCv36mm8
Celera167,346,353 - 67,377,247 (-)NCBICelera
Cytogenetic Map1C3NCBI
cM Map133.64NCBI
Acadl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8975,783,689 - 75,822,077 (-)NCBIGRCr8
mRatBN7.2968,333,981 - 68,372,149 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl968,333,980 - 68,372,220 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx976,823,956 - 76,861,404 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0981,952,887 - 81,990,335 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0980,351,815 - 80,389,588 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0973,833,368 - 73,871,857 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl973,833,388 - 73,871,888 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0973,434,371 - 73,472,895 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4965,613,130 - 65,651,775 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1965,760,111 - 65,798,754 (-)NCBI
Celera965,813,263 - 65,851,320 (-)NCBICelera
RH 3.4 Map9612.99RGD
Cytogenetic Map9q32NCBI
Acadl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554575,266,033 - 5,300,056 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554575,266,032 - 5,300,632 (+)NCBIChiLan1.0ChiLan1.0
ACADL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213112,810,225 - 112,849,103 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B112,824,820 - 112,864,084 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B97,445,421 - 97,483,514 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B215,847,775 - 215,885,524 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B215,847,775 - 215,885,524 (-)Ensemblpanpan1.1panPan2
ACADL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13718,028,244 - 18,073,975 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3718,017,087 - 18,073,862 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3718,906,886 - 18,954,457 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03717,964,225 - 18,011,748 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3717,968,220 - 18,011,731 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13717,917,084 - 17,964,271 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03717,879,408 - 17,926,609 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03717,894,240 - 17,941,487 (-)NCBIUU_Cfam_GSD_1.0
Acadl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303166,499,563 - 166,529,186 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493684566,241 - 96,249 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493684566,674 - 96,248 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACADL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15112,933,506 - 112,969,577 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115112,935,631 - 112,969,381 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215124,759,345 - 124,793,118 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACADL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11095,886,502 - 95,925,928 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1095,887,465 - 95,925,578 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040103,432,787 - 103,482,132 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acadl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247656,018,534 - 6,050,736 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACADL
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
NM_001608.3(ACADL):c.674C>T (p.Ser225Phe) single nucleotide variant Malignant melanoma [RCV000065384] Chr2:210205726 [GRCh38]
Chr2:211070450 [GRCh37]
Chr2:210778695 [NCBI36]
Chr2:2q34		 not provided
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln) single nucleotide variant not provided [RCV000115027] Chr2:210195326 [GRCh38]
Chr2:210195326..210195327 [GRCh38]
Chr2:211060050 [GRCh37]
Chr2:211060050..211060051 [GRCh37]
Chr2:2q34		 benign|uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 copy number loss See cases [RCV000139325] Chr2:207058886..211245603 [GRCh38]
Chr2:207923610..212110328 [GRCh37]
Chr2:207631855..211818573 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q34(chr2:210165293-211245653)x3 copy number gain See cases [RCV000140836] Chr2:210165293..211245653 [GRCh38]
Chr2:211030017..212110378 [GRCh37]
Chr2:210738262..211818623 [NCBI36]
Chr2:2q34		 uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
NM_001608.4(ACADL):c.374C>T (p.Ala125Val) single nucleotide variant not specified [RCV004434130] Chr2:210216509 [GRCh38]
Chr2:211081233 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.86A>G (p.His29Arg) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000270501] Chr2:210220794 [GRCh38]
Chr2:211085518 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.94G>A (p.Gly32Arg) single nucleotide variant not specified [RCV004248388] Chr2:210220786 [GRCh38]
Chr2:211085510 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.621G>T (p.Gly207=) single nucleotide variant ACADL-related disorder [RCV003939364] Chr2:210205779 [GRCh38]
Chr2:211070503 [GRCh37]
Chr2:2q34		 benign|uncertain significance
NM_001608.4(ACADL):c.113C>T (p.Thr38Ile) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000315201] Chr2:210220767 [GRCh38]
Chr2:211085491 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.629G>A (p.Ser210Asn) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000285284] Chr2:210205771 [GRCh38]
Chr2:211070495 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.939T>C (p.Tyr313=) single nucleotide variant ACADL-related disorder [RCV003971222]|not provided [RCV002276093] Chr2:210203376 [GRCh38]
Chr2:211068100 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_001608.4(ACADL):c.1144G>A (p.Asp382Asn) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000269134] Chr2:210192859 [GRCh38]
Chr2:211057583 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.651G>A (p.Ala217=) single nucleotide variant ACADL-related disorder [RCV003946485]|not provided [RCV003312516] Chr2:210205749 [GRCh38]
Chr2:211070473 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_001608.4(ACADL):c.603+11A>G single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000403038] Chr2:210210185 [GRCh38]
Chr2:210210185..210210186 [GRCh38]
Chr2:211074909 [GRCh37]
Chr2:211074909..211074910 [GRCh37]
Chr2:2q34		 benign
NM_001608.4(ACADL):c.654C>T (p.Val218=) single nucleotide variant not provided [RCV000956031] Chr2:210205746 [GRCh38]
Chr2:211070470 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_001608.4(ACADL):c.*530T>C single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000382177] Chr2:210188431 [GRCh38]
Chr2:211053155 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.992A>G (p.Gln331Arg) single nucleotide variant not specified [RCV004434167] Chr2:210195331 [GRCh38]
Chr2:211060055 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.233+13T>C single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000406063] Chr2:210220634 [GRCh38]
Chr2:211085358 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.7G>T (p.Ala3Ser) single nucleotide variant ACADL-related disorder [RCV003901878] Chr2:210225257 [GRCh38]
Chr2:211089981 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_001608.4(ACADL):c.*724T>C single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000367324] Chr2:210188237 [GRCh38]
Chr2:211052961 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.*928A>G single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000312539] Chr2:210188033 [GRCh38]
Chr2:211052757 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.*711G>A single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000277419] Chr2:210188250 [GRCh38]
Chr2:211052974 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001608.4(ACADL):c.*621G>A single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000332204] Chr2:210188340 [GRCh38]
Chr2:211053064 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.253G>A (p.Val85Ile) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000350299] Chr2:210218083 [GRCh38]
Chr2:211082807 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.722G>C (p.Gly241Ala) single nucleotide variant Long chain acyl-CoA dehydrogenase deficiency [RCV001250104]|not provided [RCV002263958]|not specified [RCV000728617] Chr2:210205678 [GRCh38]
Chr2:211070402 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001608.4(ACADL):c.626del (p.Ser208_Leu209insTer) deletion not provided [RCV000728619] Chr2:210205774 [GRCh38]
Chr2:211070498 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q34(chr2:210983281-211744945)x3 copy number gain See cases [RCV000511488] Chr2:210983281..211744945 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.932G>T (p.Arg311Met) single nucleotide variant not provided [RCV001810985] Chr2:210203383 [GRCh38]
Chr2:211068107 [GRCh37]
Chr2:2q34		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001608.4(ACADL):c.1185G>C (p.Glu395Asp) single nucleotide variant not specified [RCV004282330] Chr2:210192818 [GRCh38]
Chr2:211057542 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735898] Chr2:209425211..211567929 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34(chr2:210887734-211112436)x3 copy number gain not provided [RCV000740860] Chr2:210887734..211112436 [GRCh37]
Chr2:2q34		 benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs) indel Very long chain acyl-CoA dehydrogenase deficiency [RCV000779299]|not provided [RCV002275156] Chr2:210203382..210203387 [GRCh38]
Chr2:211068106..211068111 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_001608.4(ACADL):c.24dup (p.Ser9fs) duplication Very long chain acyl-CoA dehydrogenase deficiency [RCV000779300] Chr2:210225239..210225240 [GRCh38]
Chr2:211089963..211089964 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q34(chr2:210938610-211132415)x3 copy number gain not provided [RCV000849375] Chr2:210938610..211132415 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.799C>T (p.Arg267Trp) single nucleotide variant Long chain acyl-CoA dehydrogenase deficiency [RCV001250068]|not provided [RCV003433094] Chr2:210204652 [GRCh38]
Chr2:211069376 [GRCh37]
Chr2:2q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001608.4(ACADL):c.928_929del (p.Thr310fs) deletion not provided [RCV001811599] Chr2:210203386..210203387 [GRCh38]
Chr2:211068110..211068111 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
NC_000002.11:g.(?_210636797)_(211542709_?)dup duplication not provided [RCV004583853] Chr2:210636797..211542709 [GRCh37]
Chr2:2q34		 uncertain significance
NC_000002.11:g.(?_210636797)_(213403254_?)del deletion not provided [RCV003122874] Chr2:210636797..213403254 [GRCh37]
Chr2:2q34		 pathogenic
NM_001608.4(ACADL):c.508A>G (p.Ile170Val) single nucleotide variant ACADL-related disorder [RCV003410335]|not specified [RCV004325414] Chr2:210216375 [GRCh38]
Chr2:211081099 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.463A>G (p.Lys155Glu) single nucleotide variant not specified [RCV004296842] Chr2:210216420 [GRCh38]
Chr2:211081144 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.1034G>A (p.Arg345Gln) single nucleotide variant not specified [RCV004204204] Chr2:210195289 [GRCh38]
Chr2:211060013 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.129A>T (p.Lys43Asn) single nucleotide variant not specified [RCV004197741] Chr2:210220751 [GRCh38]
Chr2:211085475 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.140T>C (p.Ile47Thr) single nucleotide variant not specified [RCV004161141] Chr2:210220740 [GRCh38]
Chr2:211085464 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.257G>A (p.Ser86Asn) single nucleotide variant not specified [RCV004093898] Chr2:210218079 [GRCh38]
Chr2:211082803 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.871G>A (p.Glu291Lys) single nucleotide variant not specified [RCV004086338] Chr2:210203444 [GRCh38]
Chr2:211068168 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.922G>A (p.Glu308Lys) single nucleotide variant not provided [RCV003886606]|not specified [RCV004154958] Chr2:210203393 [GRCh38]
Chr2:211068117 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.180C>G (p.Phe60Leu) single nucleotide variant not specified [RCV004211893] Chr2:210220700 [GRCh38]
Chr2:211085424 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.1099A>G (p.Met367Val) single nucleotide variant not specified [RCV004099522] Chr2:210195224 [GRCh38]
Chr2:211059948 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.1103C>T (p.Ala368Val) single nucleotide variant not specified [RCV004281162] Chr2:210195220 [GRCh38]
Chr2:211059944 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.545A>C (p.Gln182Pro) single nucleotide variant not specified [RCV004273505] Chr2:210210254 [GRCh38]
Chr2:211074978 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.181C>T (p.Arg61Trp) single nucleotide variant not specified [RCV004300752] Chr2:210220699 [GRCh38]
Chr2:211085423 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001608.4(ACADL):c.659A>G (p.Asn220Ser) single nucleotide variant not specified [RCV004341775] Chr2:210205741 [GRCh38]
Chr2:211070465 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.910G>C (p.Glu304Gln) single nucleotide variant not specified [RCV004352533] Chr2:210203405 [GRCh38]
Chr2:211068129 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.355A>T (p.Ile119Phe) single nucleotide variant not specified [RCV004365705] Chr2:210217981 [GRCh38]
Chr2:211082705 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.138T>C (p.Asp46=) single nucleotide variant not provided [RCV003440149] Chr2:210220742 [GRCh38]
Chr2:211085466 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.871-2A>G single nucleotide variant ACADL-related disorder [RCV003404237] Chr2:210203446 [GRCh38]
Chr2:211068170 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.683A>G (p.His228Arg) single nucleotide variant ACADL-related disorder [RCV003402683] Chr2:210205717 [GRCh38]
Chr2:211070441 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.497G>A (p.Cys166Tyr) single nucleotide variant ACADL-related disorder [RCV003402724] Chr2:210216386 [GRCh38]
Chr2:211081110 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 copy number loss not specified [RCV003986210] Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_001608.4(ACADL):c.234-4G>A single nucleotide variant ACADL-related disorder [RCV003892271] Chr2:210218106 [GRCh38]
Chr2:211082830 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.37C>T (p.Leu13=) single nucleotide variant ACADL-related disorder [RCV003912014] Chr2:210225227 [GRCh38]
Chr2:211089951 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.1104G>A (p.Ala368=) single nucleotide variant ACADL-related disorder [RCV003949244] Chr2:210195219 [GRCh38]
Chr2:211059943 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.870+10G>A single nucleotide variant ACADL-related disorder [RCV003926914] Chr2:210204571 [GRCh38]
Chr2:211069295 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.372-8dup duplication ACADL-related disorder [RCV003933863] Chr2:210216518..210216519 [GRCh38]
Chr2:211081242..211081243 [GRCh37]
Chr2:2q34		 benign
NM_001608.4(ACADL):c.90C>T (p.Ser30=) single nucleotide variant ACADL-related disorder [RCV003899197] Chr2:210220790 [GRCh38]
Chr2:211085514 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.1112+5G>A single nucleotide variant ACADL-related disorder [RCV003907182] Chr2:210195206 [GRCh38]
Chr2:211059930 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.1199+9A>G single nucleotide variant ACADL-related disorder [RCV003959619] Chr2:210192795 [GRCh38]
Chr2:211057519 [GRCh37]
Chr2:2q34		 likely benign
NM_001608.4(ACADL):c.187A>G (p.Ser63Gly) single nucleotide variant not specified [RCV004434122] Chr2:210220693 [GRCh38]
Chr2:211085417 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.808G>T (p.Ala270Ser) single nucleotide variant not specified [RCV004434143] Chr2:210204643 [GRCh38]
Chr2:211069367 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.956C>T (p.Ala319Val) single nucleotide variant not specified [RCV004434162] Chr2:210203359 [GRCh38]
Chr2:211068083 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.1150G>A (p.Val384Ile) single nucleotide variant not specified [RCV004600165] Chr2:210192853 [GRCh38]
Chr2:211057577 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.20G>T (p.Arg7Leu) single nucleotide variant not specified [RCV004600175] Chr2:210225244 [GRCh38]
Chr2:211089968 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.310G>A (p.Ala104Thr) single nucleotide variant not specified [RCV004600155] Chr2:210218026 [GRCh38]
Chr2:211082750 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.481A>G (p.Met161Val) single nucleotide variant not specified [RCV004600147] Chr2:210216402 [GRCh38]
Chr2:211081126 [GRCh37]
Chr2:2q34		 uncertain significance
NM_001608.4(ACADL):c.845A>G (p.Tyr282Cys) single nucleotide variant ACADL-related disorder [RCV004749419] Chr2:210204606 [GRCh38]
Chr2:211069330 [GRCh37]
Chr2:2q34		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:594
Count of miRNA genes:477
Interacting mature miRNAs:523
Transcripts:ENST00000233710, ENST00000482502, ENST00000482523, ENST00000498120
Prediction methods:Miranda, Rnahybrid
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
407096515GWAS745491_Hnonanoylcarnitine (C9) measurement QTL GWAS745491 (human)1e-11nonanoylcarnitine (C9) measurement2210195326210195327Human
407099393GWAS748369_HX-13431 measurement QTL GWAS748369 (human)9e-427X-13431 measurement2210195326210195327Human
407099392GWAS748368_HX-13431 measurement QTL GWAS748368 (human)1e-16X-13431 measurement2210190986210190987Human
407154112GWAS803088_Hurinary metabolite measurement QTL GWAS803088 (human)4e-181urinary metabolite measurement2210195326210195327Human
407137922GWAS786898_Hmetabolite measurement QTL GWAS786898 (human)4e-29metabolite measurement2210210185210210186Human
407288204GWAS937180_HC9 carnitine measurement QTL GWAS937180 (human)2e-36C9 carnitine measurement2210195326210195327Human
407093903GWAS742879_HX-13431 measurement QTL GWAS742879 (human)1e-609X-13431 measurement2210195326210195327Human
407347531GWAS996507_Hnonaylcarnitine measurement QTL GWAS996507 (human)3e-118nonaylcarnitine measurement2210195326210195327Human
407129362GWAS778338_Hmetabolite measurement QTL GWAS778338 (human)3e-60metabolite measurement2210195326210195327Human
407254992GWAS903968_Hmetabolite measurement QTL GWAS903968 (human)4e-14metabolite measurement2210195326210195327Human
407155486GWAS804462_Hurinary metabolite measurement QTL GWAS804462 (human)4e-75urinary metabolite measurement2210195326210195327Human
407185307GWAS834283_HX-13431--nonanoylcarnitine measurement QTL GWAS834283 (human)1e-37X-13431--nonanoylcarnitine measurement2210191933210191934Human
407062365GWAS711341_Hmetabolite measurement QTL GWAS711341 (human)2e-597metabolite measurement2210195326210195327Human
407144166GWAS793142_Hserum metabolite measurement QTL GWAS793142 (human)1e-35serum metabolite measurement2210210185210210186Human
407002532GWAS651508_Hmetabolite measurement QTL GWAS651508 (human)3e-667metabolite measurement2210195326210195327Human
407145773GWAS794749_Hserum metabolite measurement QTL GWAS794749 (human)3e-33serum metabolite measurement2210195326210195327Human
407158638GWAS807614_Hurinary metabolite measurement QTL GWAS807614 (human)7e-132urinary metabolite measurement2210195326210195327Human
407269101GWAS918077_Hcarnitine measurement QTL GWAS918077 (human)5e-159blood carnitine amount (VT:0003977)2210195326210195327Human
407003502GWAS652478_HX-23641 measurement QTL GWAS652478 (human)4e-16X-23641 measurement2210191933210191934Human
406929199GWAS578175_HX-13431 measurement QTL GWAS578175 (human)3e-264X-13431 measurement2210191933210191934Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
407043954GWAS692930_HC9 carnitine measurement QTL GWAS692930 (human)1e-14C9 carnitine measurement2210210185210210186Human
407003505GWAS652481_HX-23641 measurement QTL GWAS652481 (human)5e-32X-23641 measurement2210195326210195327Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407061878GWAS710854_HX-13431 measurement QTL GWAS710854 (human)3e-168X-13431 measurement2210195326210195327Human
406929208GWAS578184_HX-13431 measurement QTL GWAS578184 (human)9e-247X-13431 measurement2210195326210195327Human
406966200GWAS615176_Hribulose-phosphate 3-epimerase measurement QTL GWAS615176 (human)1e-17ribulose-phosphate 3-epimerase measurement2210195326210195327Human
407061880GWAS710856_HX-13431 measurement QTL GWAS710856 (human)5e-197X-13431 measurement2210195326210195327Human
407029116GWAS678092_HC9 carnitine measurement QTL GWAS678092 (human)2e-38C9 carnitine measurement2210210185210210186Human

Markers in Region
RH69173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372211,053,023 - 211,053,151UniSTSGRCh37
Build 362210,761,268 - 210,761,396RGDNCBI36
Celera2204,821,022 - 204,821,150RGD
Cytogenetic Map2q34UniSTS
HuRef2202,898,257 - 202,898,385UniSTS
GeneMap99-GB4 RH Map2647.08UniSTS
SHGC-36221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372211,052,739 - 211,052,855UniSTSGRCh37
Build 362210,760,984 - 210,761,100RGDNCBI36
Celera2204,820,738 - 204,820,854RGD
Cytogenetic Map2q34UniSTS
HuRef2202,897,973 - 202,898,089UniSTS
GeneMap99-G3 RH Map29294.0UniSTS
RH80284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372211,053,436 - 211,053,684UniSTSGRCh37
Build 362210,761,681 - 210,761,929RGDNCBI36
Celera2204,821,435 - 204,821,683RGD
Cytogenetic Map2q34UniSTS
HuRef2202,898,670 - 202,898,918UniSTS
GeneMap99-GB4 RH Map2648.04UniSTS
SHGC-58606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372211,071,582 - 211,071,684UniSTSGRCh37
Build 362210,779,827 - 210,779,929RGDNCBI36
Celera2204,839,581 - 204,839,683RGD
Cytogenetic Map2q34UniSTS
HuRef2202,916,816 - 202,916,918UniSTS
TNG Radiation Hybrid Map2116014.0UniSTS
ACADL  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372211,081,070 - 211,081,195UniSTSGRCh37
Build 362210,789,315 - 210,789,440RGDNCBI36
Celera2204,849,089 - 204,849,214RGD
HuRef2202,926,323 - 202,926,448UniSTS
ACADL_199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372211,052,740 - 211,053,429UniSTSGRCh37
Build 362210,760,985 - 210,761,674RGDNCBI36
Celera2204,820,739 - 204,821,428RGD
HuRef2202,897,974 - 202,898,663UniSTS
D2S1847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372211,080,023 - 211,080,259UniSTSGRCh37
Build 362210,788,268 - 210,788,504RGDNCBI36
Celera2204,848,042 - 204,848,278RGD
Cytogenetic Map2q34UniSTS
HuRef2202,925,276 - 202,925,512UniSTS
Whitehead-YAC Contig Map2 UniSTS


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 2284 2788 2231 4861 1696 2246 3 605 1040 446 2200 6255 5569 33 3686 1 831 1682 1530 169 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC350098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000233710   ⟹   ENSP00000233710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2210,187,923 - 210,225,447 (-)Ensembl
Ensembl Acc Id: ENST00000482502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2210,209,589 - 210,216,719 (-)Ensembl
Ensembl Acc Id: ENST00000482523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2210,218,065 - 210,224,849 (-)Ensembl
Ensembl Acc Id: ENST00000498120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2210,217,475 - 210,225,447 (-)Ensembl
Ensembl Acc Id: ENST00000652584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2210,187,126 - 210,224,723 (-)Ensembl
RefSeq Acc Id: NM_001608   ⟹   NP_001599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382210,187,923 - 210,225,447 (-)NCBI
GRCh372211,052,632 - 211,090,215 (-)NCBI
Build 362210,760,959 - 210,798,392 (-)NCBI Archive
HuRef2202,897,948 - 202,935,464 (-)ENTREZGENE
CHM1_12211,058,802 - 211,096,307 (-)NCBI
T2T-CHM13v2.02210,668,601 - 210,706,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246517   ⟹   XP_005246574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382210,187,923 - 210,225,447 (-)NCBI
GRCh372211,052,632 - 211,090,215 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047444103   ⟹   XP_047300059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382210,187,923 - 210,225,142 (-)NCBI
RefSeq Acc Id: XM_054341681   ⟹   XP_054197656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02210,668,601 - 210,706,298 (-)NCBI
RefSeq Acc Id: XM_054341682   ⟹   XP_054197657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02210,668,601 - 210,705,844 (-)NCBI
RefSeq Acc Id: NP_001599   ⟸   NM_001608
- Peptide Label: precursor
- UniProtKB: B2R8T3 (UniProtKB/Swiss-Prot),   Q8IUN8 (UniProtKB/Swiss-Prot),   P28330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246574   ⟸   XM_005246517
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000233710   ⟸   ENST00000233710
RefSeq Acc Id: XP_047300059   ⟸   XM_047444103
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197656   ⟸   XM_054341681
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197657   ⟸   XM_054341682
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28330-F1-model_v2 AlphaFold P28330 1-430 view protein structure

Promoters
RGD ID:6862702
Promoter ID:EPDNEW_H4516
Type:initiation region
Name:ACADL_1
Description:acyl-CoA dehydrogenase, long chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382210,225,447 - 210,225,507EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:88 AgrOrtholog
COSMIC ACADL COSMIC
Ensembl Genes ENSG00000115361 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000233710 ENTREZGENE
  ENST00000233710.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.540.10 UniProtKB/Swiss-Prot
  2.40.110.10 UniProtKB/Swiss-Prot
  Butyryl-CoA Dehydrogenase, subunit A, domain 3 UniProtKB/Swiss-Prot
GTEx ENSG00000115361 GTEx
HGNC ID HGNC:88 ENTREZGENE
Human Proteome Map ACADL Human Proteome Map
InterPro Acyl-CoA_DH_CS UniProtKB/Swiss-Prot
  Acyl-CoA_Oxase/DH_cen-dom UniProtKB/Swiss-Prot
  Acyl-CoA_Oxase/DH_mid-dom_sf UniProtKB/Swiss-Prot
  AcylCo_DH-like_C UniProtKB/Swiss-Prot
  AcylCo_DH/oxidase_C UniProtKB/Swiss-Prot
  AcylCoA_DH/ox_N UniProtKB/Swiss-Prot
  AcylCoA_DH/ox_N_sf UniProtKB/Swiss-Prot
  AcylCoA_DH/oxidase_NM_dom UniProtKB/Swiss-Prot
  LCAD UniProtKB/Swiss-Prot
KEGG Report hsa:33 UniProtKB/Swiss-Prot
NCBI Gene 33 ENTREZGENE
OMIM 609576 OMIM
PANTHER ACYL-COA DEHYDROGENASE UniProtKB/Swiss-Prot
  COMPLEX I ASSEMBLY FACTOR ACAD9, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot
Pfam Acyl-CoA_dh_1 UniProtKB/Swiss-Prot
  Acyl-CoA_dh_M UniProtKB/Swiss-Prot
  Acyl-CoA_dh_N UniProtKB/Swiss-Prot
PharmGKB PA24424 PharmGKB
PROSITE ACYL_COA_DH_1 UniProtKB/Swiss-Prot
  ACYL_COA_DH_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47203 UniProtKB/Swiss-Prot
  SSF56645 UniProtKB/Swiss-Prot
UniProt ACADL_HUMAN UniProtKB/Swiss-Prot
  B2R8T3 ENTREZGENE
  P28330 ENTREZGENE
  Q8IUN8 ENTREZGENE
UniProt Secondary B2R8T3 UniProtKB/Swiss-Prot
  Q8IUN8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-04 ACADL  acyl-CoA dehydrogenase long chain  ACADL  acyl-CoA dehydrogenase, long chain  Symbol and/or name change 5135510 APPROVED
2011-07-27 ACADL  acyl-CoA dehydrogenase, long chain  ACADL  acyl-Coenzyme A dehydrogenase, long chain  Symbol and/or name change 5135510 APPROVED