ABCD2 (ATP binding cassette subfamily D member 2) - Rat Genome Database

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Gene: ABCD2 (ATP binding cassette subfamily D member 2) Homo sapiens
Analyze
Symbol: ABCD2
Name: ATP binding cassette subfamily D member 2
RGD ID: 730967
HGNC Page HGNC:66
Description: Enables several functions, including ATP hydrolysis activity; fatty acyl-CoA hydrolase activity; and protein homodimerization activity. Involved in fatty acid beta-oxidation; positive regulation of fatty acid beta-oxidation; and very long-chain fatty acid catabolic process. Located in peroxisome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC39; adrenoleukodystrophy-like 1; adrenoleukodystrophy-related protein; ALDL1; ALDR; ALDRP; ATP-binding cassette sub-family D member 2; ATP-binding cassette, sub-family D (ALD), member 2; hALDR
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
GRCh381239,531,025 - 39,619,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1239,550,033 - 39,619,803 (-)EnsemblGRCh38hg38GRCh38
GRCh371239,943,835 - 40,013,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,232,813 - 38,300,237 (-)NCBINCBI36Build 36hg18NCBI36
Build 341238,232,813 - 38,300,237NCBI
Celera1238,749,047 - 38,818,059 (-)NCBICelera
Cytogenetic Map12q12ENTREZGENE
HuRef1236,971,383 - 37,040,198 (-)NCBIHuRef
CHM1_11239,911,021 - 39,979,850 (-)NCBICHM1_1
T2T-CHM13v2.01239,480,907 - 39,601,214 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
alpha-Zearalanol  (ISO)
amitriptyline  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aspartame  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
clofibrate  (ISO)
clothianidin  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
delta-tocotrienol  (ISO)
dexamethasone  (EXP,ISO)
Diallyl sulfide  (EXP)
dichloroacetic acid  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (EXP,ISO)
epoxiconazole  (ISO)
ethylparaben  (EXP)
fructose  (ISO)
furan  (ISO)
gentamycin  (ISO)
glucose  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
ketoconazole  (ISO)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
methimazole  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
orphenadrine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
quercetin  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
membrane  (IEA)
peroxisomal membrane  (IBA,IEA,TAS)
peroxisome  (IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy. Hartley MD, etal., Endocrinology. 2017 May 1;158(5):1328-1338. doi: 10.1210/en.2016-1842.
3. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Lombard-Platet G, etal., Proc Natl Acad Sci U S A 1996 Feb 6;93(3):1265-9.
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9195160   PMID:9345306   PMID:10196381   PMID:10329405   PMID:10551832   PMID:10704444   PMID:10777694   PMID:11883941   PMID:12477932   PMID:15489334   PMID:16249184   PMID:16344560  
PMID:16946495   PMID:17602313   PMID:17609205   PMID:18029348   PMID:18660489   PMID:18834860   PMID:19343046   PMID:20661612   PMID:20877624   PMID:21145416   PMID:21873635   PMID:23437103  
PMID:24338191   PMID:25079382   PMID:25604068   PMID:25921289   PMID:27766264   PMID:29397936   PMID:30264402   PMID:34198763  


Genomics

Comparative Map Data
ABCD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381239,531,025 - 39,619,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1239,550,033 - 39,619,803 (-)EnsemblGRCh38hg38GRCh38
GRCh371239,943,835 - 40,013,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,232,813 - 38,300,237 (-)NCBINCBI36Build 36hg18NCBI36
Build 341238,232,813 - 38,300,237NCBI
Celera1238,749,047 - 38,818,059 (-)NCBICelera
Cytogenetic Map12q12ENTREZGENE
HuRef1236,971,383 - 37,040,198 (-)NCBIHuRef
CHM1_11239,911,021 - 39,979,850 (-)NCBICHM1_1
T2T-CHM13v2.01239,480,907 - 39,601,214 (-)NCBIT2T-CHM13v2.0
Abcd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391591,029,874 - 91,076,013 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1591,030,074 - 91,076,002 (-)EnsemblGRCm39 Ensembl
GRCm381591,145,871 - 91,192,007 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1591,145,871 - 91,191,799 (-)EnsemblGRCm38mm10GRCm38
MGSCv371590,976,302 - 91,022,238 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361590,973,638 - 91,019,574 (-)NCBIMGSCv36mm8
Celera1593,253,156 - 93,299,066 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1546.0NCBI
Abcd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87124,142,597 - 124,191,202 (-)NCBIGRCr8
mRatBN7.27122,263,034 - 122,311,642 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7122,263,032 - 122,311,642 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7124,054,640 - 124,103,336 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07126,280,755 - 126,329,211 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07126,207,915 - 126,256,642 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07132,294,564 - 132,343,169 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7132,294,562 - 132,343,169 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07131,968,475 - 132,017,044 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47129,542,758 - 129,591,363 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17129,577,902 - 129,626,508 (-)NCBI
Celera7118,713,620 - 118,762,172 (-)NCBICelera
Cytogenetic Map7q35NCBI
Abcd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955505721,222 - 798,470 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955505717,800 - 769,702 (+)NCBIChiLan1.0ChiLan1.0
ABCD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21054,525,947 - 54,601,622 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11254,522,683 - 54,598,358 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01249,082,122 - 49,158,524 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11249,941,914 - 50,011,140 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1249,941,914 - 50,011,140 (+)Ensemblpanpan1.1panPan2
ABCD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12714,015,093 - 14,084,362 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2714,015,091 - 14,163,312 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2732,351,661 - 32,426,133 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02714,182,734 - 14,251,081 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2714,187,982 - 14,251,183 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12713,992,155 - 14,060,013 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02714,030,140 - 14,098,038 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02732,500,349 - 32,568,488 (-)NCBIUU_Cfam_GSD_1.0
Abcd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494574,459,561 - 74,544,026 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366071,292,888 - 1,343,334 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366071,292,964 - 1,345,671 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl571,122,325 - 71,180,723 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1571,123,187 - 71,180,758 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2573,679,380 - 73,746,350 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11135,818,451 - 35,884,696 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037210,906,997 - 210,973,843 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624778847,879 - 909,727 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624778854,297 - 912,498 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCD2
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11		 pathogenic
GRCh38/hg38 12q12(chr12:39287010-39789020)x1 copy number loss See cases [RCV000052810] Chr12:39287010..39789020 [GRCh38]
Chr12:39680812..40182822 [GRCh37]
Chr12:37967079..38469089 [NCBI36]
Chr12:12q12		 pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_005164.3(ABCD2):c.1674G>A (p.Arg558=) single nucleotide variant Malignant melanoma [RCV000062486] Chr12:39586270 [GRCh38]
Chr12:39980072 [GRCh37]
Chr12:38266339 [NCBI36]
Chr12:12q12		 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
NM_001031748.2(C12orf40):c.23+847G>T single nucleotide variant Lung cancer [RCV000111011] Chr12:39627206 [GRCh38]
Chr12:40021008 [GRCh37]
Chr12:12q12		 uncertain significance
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 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
GRCh37/hg19 12q12(chr12:39598809-41141181)x3 copy number gain See cases [RCV000446896] Chr12:39598809..41141181 [GRCh37]
Chr12:12q12		 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 12q12(chr12:39452850-40084260)x3 copy number gain not provided [RCV000683444] Chr12:39452850..40084260 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3 copy number gain See cases [RCV000512027] Chr12:29123400..40956186 [GRCh37]
Chr12:12p11.22-q12		 likely 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
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_005164.4(ABCD2):c.1668T>G (p.Ser556Arg) single nucleotide variant not specified [RCV004290338] Chr12:39586276 [GRCh38]
Chr12:39980078 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3 copy number gain See cases [RCV000512422] Chr12:37889608..41414167 [GRCh37]
Chr12:12q11-12		 uncertain significance
NM_005164.4(ABCD2):c.292A>G (p.Lys98Glu) single nucleotide variant not provided [RCV000676171] Chr12:39619324 [GRCh38]
Chr12:40013126 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1878-18G>C single nucleotide variant not provided [RCV000676170] Chr12:39573859 [GRCh38]
Chr12:39967661 [GRCh37]
Chr12:12q12		 benign
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 12q12(chr12:38207168-40145174)x1 copy number loss not provided [RCV000683466] Chr12:38207168..40145174 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 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 12q12(chr12:39577315-40582797)x1 copy number loss not provided [RCV000848310] Chr12:39577315..40582797 [GRCh37]
Chr12:12q12		 pathogenic
GRCh37/hg19 12q12(chr12:39580744-42470754)x3 copy number gain not provided [RCV001006496] Chr12:39580744..42470754 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1421T>C (p.Val474Ala) single nucleotide variant not specified [RCV004288837] Chr12:39603991 [GRCh38]
Chr12:39997793 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:39792367-39965548)x1 copy number loss not provided [RCV002472920] Chr12:39792367..39965548 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:39447728-40418470)x3 copy number gain not provided [RCV002473714] Chr12:39447728..40418470 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:39078754-40577696)x4 copy number gain not provided [RCV001259136] Chr12:39078754..40577696 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
GRCh37/hg19 12q12(chr12:39598809-41141181) copy number gain not specified [RCV002052990] Chr12:39598809..41141181 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1720G>A (p.Gly574Ser) single nucleotide variant not specified [RCV004657403] Chr12:39586224 [GRCh38]
Chr12:39980026 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1015T>C (p.Trp339Arg) single nucleotide variant not specified [RCV004324204] Chr12:39617093 [GRCh38]
Chr12:40010895 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:39560669-43285298)x1 copy number loss not provided [RCV002475769] Chr12:39560669..43285298 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1744C>T (p.Arg582Cys) single nucleotide variant not specified [RCV004148177] Chr12:39586200 [GRCh38]
Chr12:39980002 [GRCh37]
Chr12:12q12		 likely benign
NM_005164.4(ABCD2):c.1748T>C (p.Ile583Thr) single nucleotide variant not specified [RCV004179196] Chr12:39586196 [GRCh38]
Chr12:39979998 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.880T>C (p.Tyr294His) single nucleotide variant not specified [RCV004174890] Chr12:39618736 [GRCh38]
Chr12:40012538 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1741G>A (p.Glu581Lys) single nucleotide variant not specified [RCV004161903] Chr12:39586203 [GRCh38]
Chr12:39980005 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.557C>T (p.Thr186Ile) single nucleotide variant not specified [RCV004083379] Chr12:39619059 [GRCh38]
Chr12:40012861 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1416T>G (p.Ile472Met) single nucleotide variant not specified [RCV004106992] Chr12:39603996 [GRCh38]
Chr12:39997798 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.532C>T (p.Arg178Cys) single nucleotide variant not specified [RCV004216890] Chr12:39619084 [GRCh38]
Chr12:40012886 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1927G>A (p.Val643Ile) single nucleotide variant not specified [RCV004180097] Chr12:39573792 [GRCh38]
Chr12:39967594 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.533G>A (p.Arg178His) single nucleotide variant not specified [RCV004132640] Chr12:39619083 [GRCh38]
Chr12:40012885 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.2139G>T (p.Met713Ile) single nucleotide variant not specified [RCV004081077] Chr12:39553996 [GRCh38]
Chr12:39947798 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1009C>T (p.Arg337Cys) single nucleotide variant not specified [RCV004091311] Chr12:39617099 [GRCh38]
Chr12:40010901 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1475T>C (p.Val492Ala) single nucleotide variant not specified [RCV004080470] Chr12:39603937 [GRCh38]
Chr12:39997739 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1759G>A (p.Val587Ile) single nucleotide variant not specified [RCV004272373] Chr12:39586185 [GRCh38]
Chr12:39979987 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1154G>A (p.Arg385Gln) single nucleotide variant not specified [RCV004346580] Chr12:39607681 [GRCh38]
Chr12:40001483 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1327G>A (p.Val443Ile) single nucleotide variant not specified [RCV004338090] Chr12:39604840 [GRCh38]
Chr12:39998642 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1488G>T (p.Arg496Ser) single nucleotide variant not specified [RCV004337531] Chr12:39603924 [GRCh38]
Chr12:39997726 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1059C>A (p.Ser353Arg) single nucleotide variant not specified [RCV004354150] Chr12:39617049 [GRCh38]
Chr12:40010851 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:39854510-40160131)x3 copy number gain not provided [RCV003484866] Chr12:39854510..40160131 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3 copy number gain not specified [RCV003987001] Chr12:38258635..48235837 [GRCh37]
Chr12:12q12-13.11		 pathogenic
NM_005164.4(ABCD2):c.1964G>C (p.Gly655Ala) single nucleotide variant not specified [RCV004424961] Chr12:39573755 [GRCh38]
Chr12:39967557 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.208G>A (p.Glu70Lys) single nucleotide variant not specified [RCV004424966] Chr12:39619408 [GRCh38]
Chr12:40013210 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.2140C>A (p.Gln714Lys) single nucleotide variant not specified [RCV004424976] Chr12:39553995 [GRCh38]
Chr12:39947797 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.508A>G (p.Lys170Glu) single nucleotide variant not specified [RCV004424984] Chr12:39619108 [GRCh38]
Chr12:40012910 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.866A>G (p.Lys289Arg) single nucleotide variant not specified [RCV004424999] Chr12:39618750 [GRCh38]
Chr12:40012552 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1180A>C (p.Asn394His) single nucleotide variant not specified [RCV004424923] Chr12:39607655 [GRCh38]
Chr12:40001457 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.2051G>A (p.Arg684His) single nucleotide variant not specified [RCV004424964] Chr12:39554084 [GRCh38]
Chr12:39947886 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.2209G>A (p.Asp737Asn) single nucleotide variant not specified [RCV004424980] Chr12:39553926 [GRCh38]
Chr12:39947728 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.126G>C (p.Lys42Asn) single nucleotide variant not specified [RCV004424927] Chr12:39619490 [GRCh38]
Chr12:40013292 [GRCh37]
Chr12:12q12		 uncertain significance
NM_005164.4(ABCD2):c.1370T>C (p.Val457Ala) single nucleotide variant not specified [RCV004657449] Chr12:39604797 [GRCh38]
Chr12:39998599 [GRCh37]
Chr12:12q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1062
Count of miRNA genes:632
Interacting mature miRNAs:703
Transcripts:ENST00000308666
Prediction methods:Miranda
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
407107891GWAS756867_Hprotein measurement QTL GWAS756867 (human)3e-08protein measurement123955850739558508Human
407331185GWAS980161_HAlzheimer disease, polygenic risk score QTL GWAS980161 (human)4e-08Alzheimer disease, polygenic risk score123959516939595170Human
407023636GWAS672612_Hbody mass index QTL GWAS672612 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)123961959039619591Human
407261630GWAS910606_Hvaginal microbiome measurement QTL GWAS910606 (human)0.000002vaginal microbiome measurement123957777939577780Human
407288044GWAS937020_Hvaginal microbiome measurement QTL GWAS937020 (human)0.000004vaginal microbiome measurement123957777939577780Human
407256749GWAS905725_Hvaginal microbiome measurement QTL GWAS905725 (human)0.000006vaginal microbiome measurement123957777939577780Human

Markers in Region
SHGC-82897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,999,624 - 39,999,894UniSTSGRCh37
Build 361238,285,891 - 38,286,161RGDNCBI36
Celera1238,803,838 - 38,804,108RGD
Cytogenetic Map12q12UniSTS
HuRef1237,025,987 - 37,026,257UniSTS
TNG Radiation Hybrid Map1216245.0UniSTS
ABCD2_195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,946,415 - 39,947,303UniSTSGRCh37
Build 361238,232,682 - 38,233,570RGDNCBI36
Celera1238,750,441 - 38,751,329RGD
HuRef1236,972,775 - 36,973,663UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001412788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC121334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF302501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB259336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U28150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000308666   ⟹   ENSP00000310688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1239,550,033 - 39,619,803 (-)Ensembl
RefSeq Acc Id: NM_001412788   ⟹   NP_001399717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,569,848 - 39,619,803 (-)NCBI
T2T-CHM13v2.01239,519,719 - 39,569,676 (-)NCBI
RefSeq Acc Id: NM_001412789   ⟹   NP_001399718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,550,033 - 39,619,803 (-)NCBI
T2T-CHM13v2.01239,499,899 - 39,569,676 (-)NCBI
RefSeq Acc Id: NM_001412790   ⟹   NP_001399719
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,569,848 - 39,619,803 (-)NCBI
T2T-CHM13v2.01239,519,719 - 39,569,676 (-)NCBI
RefSeq Acc Id: NM_001412791   ⟹   NP_001399720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,550,033 - 39,619,803 (-)NCBI
T2T-CHM13v2.01239,499,899 - 39,569,676 (-)NCBI
RefSeq Acc Id: NM_001412792   ⟹   NP_001399721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,593,234 - 39,619,803 (-)NCBI
T2T-CHM13v2.01239,543,104 - 39,569,676 (-)NCBI
RefSeq Acc Id: NM_001412793   ⟹   NP_001399722
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,550,033 - 39,605,507 (-)NCBI
T2T-CHM13v2.01239,499,899 - 39,555,381 (-)NCBI
RefSeq Acc Id: NM_005164   ⟹   NP_005155
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,550,033 - 39,619,803 (-)NCBI
GRCh371239,945,022 - 40,013,843 (-)ENTREZGENE
Build 361238,232,813 - 38,300,237 (-)NCBI Archive
HuRef1236,971,383 - 37,040,198 (-)ENTREZGENE
CHM1_11239,911,021 - 39,979,850 (-)NCBI
T2T-CHM13v2.01239,499,899 - 39,569,676 (-)NCBI
Sequence:
RefSeq Acc Id: NR_182045
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,550,033 - 39,619,803 (-)NCBI
T2T-CHM13v2.01239,499,899 - 39,569,676 (-)NCBI
RefSeq Acc Id: NR_182046
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,550,033 - 39,619,803 (-)NCBI
T2T-CHM13v2.01239,499,899 - 39,569,676 (-)NCBI
RefSeq Acc Id: XM_017018992   ⟹   XP_016874481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,531,025 - 39,619,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018993   ⟹   XP_016874482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,590,652 - 39,619,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054371409   ⟹   XP_054227384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01239,499,899 - 39,601,214 (-)NCBI
RefSeq Acc Id: XM_054371410   ⟹   XP_054227385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01239,480,907 - 39,569,676 (-)NCBI
RefSeq Acc Id: XM_054371411   ⟹   XP_054227386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01239,540,522 - 39,569,676 (-)NCBI
RefSeq Acc Id: NP_005155   ⟸   NM_005164
- Peptide Label: isoform 1
- UniProtKB: Q13210 (UniProtKB/Swiss-Prot),   B2RAM3 (UniProtKB/Swiss-Prot),   Q2M3H9 (UniProtKB/Swiss-Prot),   Q9UBJ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874481   ⟸   XM_017018992
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016874482   ⟸   XM_017018993
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000310688   ⟸   ENST00000308666
RefSeq Acc Id: NP_001399720   ⟸   NM_001412791
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001399718   ⟸   NM_001412789
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001399722   ⟸   NM_001412793
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001399719   ⟸   NM_001412790
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001399717   ⟸   NM_001412788
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001399721   ⟸   NM_001412792
- Peptide Label: isoform 6
RefSeq Acc Id: XP_054227385   ⟸   XM_054371410
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227384   ⟸   XM_054371409
- Peptide Label: isoform X3
- UniProtKB: Q9UBJ2 (UniProtKB/Swiss-Prot),   Q13210 (UniProtKB/Swiss-Prot),   B2RAM3 (UniProtKB/Swiss-Prot),   Q2M3H9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227386   ⟸   XM_054371411
- Peptide Label: isoform X2
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBJ2-F1-model_v2 AlphaFold Q9UBJ2 1-740 view protein structure

Promoters
RGD ID:6789613
Promoter ID:HG_KWN:15359
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000308666
Position:
Human AssemblyChrPosition (strand)Source
Build 361238,299,596 - 38,300,967 (-)MPROMDB
RGD ID:7223625
Promoter ID:EPDNEW_H17558
Type:initiation region
Name:ABCD2_1
Description:ATP binding cassette subfamily D member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17559  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,619,803 - 39,619,863EPDNEW
RGD ID:7223629
Promoter ID:EPDNEW_H17559
Type:initiation region
Name:ABCD2_2
Description:ATP binding cassette subfamily D member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17558  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,619,977 - 39,620,037EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:66 AgrOrtholog
COSMIC ABCD2 COSMIC
Ensembl Genes ENSG00000173208 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308666 ENTREZGENE
  ENST00000308666.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000173208 GTEx
HGNC ID HGNC:66 ENTREZGENE
Human Proteome Map ABCD2 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ABC1_TM_dom UniProtKB/Swiss-Prot
  ABC1_TM_sf UniProtKB/Swiss-Prot
  ABC_transporter-like UniProtKB/Swiss-Prot
  ABC_transporter_CS UniProtKB/Swiss-Prot
  ABC_transporter_sub-D UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:225 UniProtKB/Swiss-Prot
NCBI Gene 225 ENTREZGENE
OMIM 601081 OMIM
PANTHER ATP-BINDING CASSETTE, SUB-FAMILY D MEMBER UniProtKB/Swiss-Prot
  PTHR11384:SF24 UniProtKB/Swiss-Prot
Pfam ABC_membrane_2 UniProtKB/Swiss-Prot
  ABC_tran UniProtKB/Swiss-Prot
PharmGKB PA24401 PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
  SSF90123 UniProtKB/Swiss-Prot
UniProt ABCD2_HUMAN UniProtKB/Swiss-Prot
  B2RAM3 ENTREZGENE
  Q13210 ENTREZGENE
  Q2M3H9 ENTREZGENE
  Q9UBJ2 ENTREZGENE
UniProt Secondary B2RAM3 UniProtKB/Swiss-Prot
  Q13210 UniProtKB/Swiss-Prot
  Q2M3H9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCD2  ATP binding cassette subfamily D member 2  ABCD2  ATP-binding cassette, sub-family D (ALD), member 2  Symbol and/or name change 5135510 APPROVED