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

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Gene: ACADL (acyl-CoA dehydrogenase long chain) Homo sapiens
Analyze
Symbol: ACADL
Name: acyl-CoA dehydrogenase long chain
RGD ID: 733759
HGNC Page HGNC
Description: Predicted to enable flavin adenine dinucleotide binding activity; long-chain-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. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACAD4; acetyl-coenzyme a dehydrogenase, long-chain; acyl-CoA dehydrogenase, long chain; acyl-Coenzyme A dehydrogenase, long chain; FLJ94052; LCAD; long-chain specific acyl-CoA dehydrogenase, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2210,187,126 - 210,225,447 (-)EnsemblGRCh38hg38GRCh38
GRCh382210,187,923 - 210,225,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372211,052,647 - 211,090,171 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362210,760,959 - 210,798,392 (-)NCBINCBI36hg18NCBI36
Build 342210,878,223 - 210,915,653NCBI
Celera2204,820,713 - 204,858,229 (-)NCBI
Cytogenetic Map2q34ENTREZGENE
HuRef2202,897,948 - 202,935,464 (-)NCBIHuRef
CHM1_12211,058,802 - 211,096,307 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (ISO)
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)
amiodarone  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
aripiprazole  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (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)
choline  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
fenofibrate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
GW 4064  (EXP)
GW 7647  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipoic acid  (ISO)
meldonium  (ISO)
methapyrilene  (ISO)
microcystin-LR  (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)
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)
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)

References

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  


Genomics

Comparative Map Data
ACADL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2210,187,126 - 210,225,447 (-)EnsemblGRCh38hg38GRCh38
GRCh382210,187,923 - 210,225,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372211,052,647 - 211,090,171 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362210,760,959 - 210,798,392 (-)NCBINCBI36hg18NCBI36
Build 342210,878,223 - 210,915,653NCBI
Celera2204,820,713 - 204,858,229 (-)NCBI
Cytogenetic Map2q34ENTREZGENE
HuRef2202,897,948 - 202,935,464 (-)NCBIHuRef
CHM1_12211,058,802 - 211,096,307 (-)NCBICHM1_1
Acadl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39166,869,998 - 66,902,468 (-)NCBIGRCm39mm39
GRCm39 Ensembl166,869,998 - 66,902,436 (-)Ensembl
GRCm38166,830,839 - 66,863,309 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl166,830,839 - 66,863,277 (-)EnsemblGRCm38mm10GRCm38
MGSCv37166,877,427 - 66,909,841 (-)NCBIGRCm37mm9NCBIm37
MGSCv36166,764,061 - 66,796,475 (-)NCBImm8
Celera167,346,353 - 67,377,247 (-)NCBICelera
Cytogenetic Map1C3NCBI
cM Map133.64NCBI
Acadl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2968,333,981 - 68,372,149 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl968,333,980 - 68,372,220 (-)Ensembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.12B215,847,775 - 215,885,524 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B215,847,775 - 215,885,524 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B97,445,421 - 97,483,514 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.03717,964,225 - 18,011,748 (-)NCBI
UMICH_Zoey_3.13717,917,084 - 17,964,271 (-)NCBI
UNSW_CanFamBas_1.03717,879,408 - 17,926,609 (-)NCBI
UU_Cfam_GSD_1.03717,894,240 - 17,941,487 (-)NCBI
Acadl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303166,499,563 - 166,529,186 (-)NCBI
SpeTri2.0NW_00493684566,674 - 96,248 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACADL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15112,933,498 - 112,969,578 (-)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 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1095,887,465 - 95,925,578 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040103,432,787 - 103,482,132 (+)NCBIVero_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_1.0hetGla2

Position Markers
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

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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 131 1289 985 347 1 248 1818 133 678 234 557 1069 99 698 1374
Low 1701 776 659 231 121 168 2336 1812 2674 130 730 360 66 1 506 1414 2 2
Below cutoff 452 651 52 27 918 30 133 228 334 35 111 100 4 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000233710   ⟹   ENSP00000233710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2210,187,923 - 210,225,447 (-)Ensembl
RefSeq Acc Id: ENST00000482502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2210,209,589 - 210,216,719 (-)Ensembl
RefSeq Acc Id: ENST00000482523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2210,218,065 - 210,224,849 (-)Ensembl
RefSeq Acc Id: ENST00000498120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2210,217,475 - 210,225,447 (-)Ensembl
RefSeq Acc Id: ENST00000652584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
Sequence:
RefSeq Acc Id: XM_005246517   ⟹   XP_005246574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382210,187,990 - 210,225,155 (-)NCBI
GRCh372211,052,632 - 211,090,215 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003955   ⟹   XP_016859444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382210,187,990 - 210,225,151 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001599   ⟸   NM_001608
- Peptide Label: precursor
- UniProtKB: P28330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246574   ⟸   XM_005246517
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859444   ⟸   XM_017003955
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000233710   ⟸   ENST00000233710

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

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 none provided [RCV001000244]|not provided [RCV000115027] Chr2:210195326 [GRCh38]
Chr2:211060050 [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 Very long chain acyl-CoA dehydrogenase deficiency [RCV000300623] 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 Very long chain acyl-CoA dehydrogenase deficiency [RCV000369859] Chr2:210220786 [GRCh38]
Chr2:211085510 [GRCh37]
Chr2:2q34
uncertain significance
NM_001608.4(ACADL):c.621G>T (p.Gly207=) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000335578] Chr2:210205779 [GRCh38]
Chr2:211070503 [GRCh37]
Chr2:2q34
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 Very long chain acyl-CoA dehydrogenase deficiency [RCV000284006] Chr2:210203376 [GRCh38]
Chr2:211068100 [GRCh37]
Chr2:2q34
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 Very long chain acyl-CoA dehydrogenase deficiency [RCV000379569] Chr2:210205749 [GRCh38]
Chr2:211070473 [GRCh37]
Chr2:2q34
uncertain significance
NM_001608.4(ACADL):c.603+11A>G single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000403038] Chr2:210210185 [GRCh38]
Chr2:211074909 [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 Very long chain acyl-CoA dehydrogenase deficiency [RCV000383103] 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 Very long chain acyl-CoA dehydrogenase deficiency [RCV000306957] Chr2:210225257 [GRCh38]
Chr2:211089981 [GRCh37]
Chr2:2q34
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 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 none provided [RCV000507931] 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
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] Chr2:210203382..210203387 [GRCh38]
Chr2:211068106..211068111 [GRCh37]
Chr2:2q34
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] Chr2:210204652 [GRCh38]
Chr2:211069376 [GRCh37]
Chr2:2q34
uncertain significance
NM_001608.4(ACADL):c.928_929del (p.Thr310fs) deletion none provided [RCV001001640] Chr2:210203386..210203387 [GRCh38]
Chr2:211068110..211068111 [GRCh37]
Chr2:2q34
uncertain significance
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:88 AgrOrtholog
COSMIC ACADL COSMIC
Ensembl Genes ENSG00000115361 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000233710 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000233710 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.540.10 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
  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
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, 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    acyl-CoA dehydrogenase, long chain  Symbol and/or name change 5135510 APPROVED
2011-08-17 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