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
Description: Exhibits protein homodimerization activity. Involved in fatty acid beta-oxidation; positive regulation of fatty acid beta-oxidation; and very long-chain fatty acid catabolic process. Localizes to peroxisome.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 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 Ensembl1239,550,033 - 39,619,803 (-)EnsemblGRCh38hg38GRCh38
GRCh381239,530,965 - 39,651,333 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371239,943,835 - 40,013,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,232,813 - 38,300,237 (-)NCBINCBI36hg18NCBI36
Build 341238,232,813 - 38,300,237NCBI
Celera1238,749,047 - 38,818,059 (-)NCBI
Cytogenetic Map12q12ENTREZGENE
HuRef1236,971,383 - 37,040,198 (-)NCBIHuRef
CHM1_11239,911,021 - 39,979,850 (-)NCBICHM1_1
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)
amitriptyline  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aspartame  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
carbon nanotube  (ISO)
clothianidin  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
delta-tocotrienol  (ISO)
dexamethasone  (EXP,ISO)
dichloroacetic acid  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (EXP,ISO)
furan  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
lipopolysaccharide  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
orphenadrine  (ISO)
paracetamol  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
quercetin  (ISO)
resveratrol  (ISO)
silicon dioxide  (ISO)
Soman  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
valproic acid  (EXP,ISO)

References

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:17602313   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:30264402  


Genomics

Comparative Map Data
ABCD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1239,550,033 - 39,619,803 (-)EnsemblGRCh38hg38GRCh38
GRCh381239,530,965 - 39,651,333 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371239,943,835 - 40,013,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,232,813 - 38,300,237 (-)NCBINCBI36hg18NCBI36
Build 341238,232,813 - 38,300,237NCBI
Celera1238,749,047 - 38,818,059 (-)NCBI
Cytogenetic Map12q12ENTREZGENE
HuRef1236,971,383 - 37,040,198 (-)NCBIHuRef
CHM1_11239,911,021 - 39,979,850 (-)NCBICHM1_1
Abcd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391591,029,878 - 91,076,706 (-)NCBIGRCm39mm39
GRCm39 Ensembl1591,030,074 - 91,076,002 (-)Ensembl
GRCm381591,145,871 - 91,192,007 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1591,145,871 - 91,191,799 (-)EnsemblGRCm38mm10GRCm38
MGSCv371590,976,302 - 91,022,238 (-)NCBIGRCm37mm9NCBIm37
MGSCv361590,973,638 - 91,019,574 (-)NCBImm8
Celera1593,253,156 - 93,299,066 (-)NCBICelera
Cytogenetic Map15E3NCBI
Abcd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27122,263,034 - 122,311,642 (-)NCBI
Rnor_6.0 Ensembl7132,294,562 - 132,343,169 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07132,294,564 - 132,343,169 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07131,968,475 - 132,017,044 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47129,542,758 - 129,591,363 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11249,941,914 - 50,011,140 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1249,941,914 - 50,011,140 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01249,082,122 - 49,158,524 (+)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.02714,182,734 - 14,251,081 (+)NCBI
UMICH_Zoey_3.12713,992,155 - 14,060,013 (+)NCBI
UNSW_CanFamBas_1.02714,030,140 - 14,098,038 (+)NCBI
UU_Cfam_GSD_1.02732,500,349 - 32,568,488 (-)NCBI
Abcd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440494574,459,561 - 74,544,026 (+)NCBI
SpeTri2.0NW_0049366071,292,964 - 1,345,671 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl571,122,320 - 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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11135,818,451 - 35,884,696 (-)NCBI
Abcd2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624778854,297 - 912,498 (+)NCBI

Position Markers
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

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.


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 3 10 4 1 85 1 152 3 209 4 3 1 225 7
Low 1080 1369 785 123 1105 32 1433 793 3228 120 460 510 92 1 958 858 1 2
Below cutoff 1228 1595 842 417 706 345 2510 1352 276 234 866 954 75 21 1883 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005164 (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
  XR_001748622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748623 (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
  DB259336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U28150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000308666   ⟹   ENSP00000310688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,550,033 - 39,619,803 (-)Ensembl
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
Sequence:
RefSeq Acc Id: XM_011538027   ⟹   XP_011536329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,550,577 - 39,651,333 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018992   ⟹   XP_016874481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,530,965 - 39,620,500 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018993   ⟹   XP_016874482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,586,332 - 39,620,506 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001748622
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,546,985 - 39,620,506 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001748623
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,546,985 - 39,620,499 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005155   ⟸   NM_005164
- UniProtKB: Q9UBJ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536329   ⟸   XM_011538027
- Peptide Label: isoform X1
- UniProtKB: Q9UBJ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874481   ⟸   XM_017018992
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016874482   ⟸   XM_017018993
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000310688   ⟸   ENST00000308666
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

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
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 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12
pathogenic
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 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
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 12q12(chr12:39452850-40084260)x3 copy number gain not provided [RCV000683444] Chr12:39452850..40084260 [GRCh37]
Chr12:12q12
uncertain significance
GRCh37/hg19 12q12(chr12:38207168-40145174)x1 copy number loss not provided [RCV000683466] Chr12:38207168..40145174 [GRCh37]
Chr12:12q12
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 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
GRCh37/hg19 12q12(chr12:39078754-40577696)x4 copy number gain not provided [RCV001259136] Chr12:39078754..40577696 [GRCh37]
Chr12:12q12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:66 AgrOrtholog
COSMIC ABCD2 COSMIC
Ensembl Genes ENSG00000173208 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000310688 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308666 ENTREZGENE, 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
  ABCD2 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:225 UniProtKB/Swiss-Prot
NCBI Gene 225 ENTREZGENE
OMIM 601081 OMIM
PANTHER 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, 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    ATP-binding cassette, sub-family D (ALD), member 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 ABCD2  ATP-binding cassette, sub-family D (ALD), member 2  ABCD2  ATP-binding cassette, sub-family D (ALD), member 2  Symbol and/or name change 5135510 APPROVED