UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABC39
HGNC Symbol:ABCD2
HGNC Description:ATP-binding cassette, sub-family D (ALD), member 2
HGNC ID:66
Chromosome:Chr.12(-): 38232813-38300237
Location:12q11-q12
OMIM:601081
OMIM Phenotype:None
Accessions:AH007710
Nucleotide RefSeq:NM_005164
Protein RefSeq:NP_005155
Entrez:225
Isoforms:1
Evidence:Tissue Distribution Evidence: Brain, Heart, Lung, Colon, Thymus, Uterus, Leukocytes, Liver - Northern blot and RT-PCR. Holzinger A, Biochem Biophys Res Commun. 1997 Oct 9;239(1):261-4. - Generally located in peroxisomal membranes
Tissues:Brain, Heart, Lung, Colon, Thymus, Uterus, Leukocytes, Liver
Type:protein coding
Sets:0
PharmGKB ID:PA24401
HPRD ID:03051
Substrates:No data
Trivial Names:ALDR, ABC39, ALDL1, ALDRP, hALDR
Transcripts:NM_005164 [Chr.12(-): 38231289-38300110]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCD2 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCD2 Resequencing
Experiments:
SNP impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip  A - found on Affymetrix Genome-Wide SNP Array 6.0  
FeaturePMT SNP IDdbSNP/ PubMedSNP Array AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrand, '+' or '-'Amino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqSample Set
 
5129
PDE
rs4072006
I38300694-584-1010
AAATAATTATTTGCTATGCCTCTAG C → T CATTCTCCCTTTTTCCTCTGCATCC
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
50
15
0
0.115
132
50
16
0
0.121
136
48
18
2
0.162
134
53
14
0
0.104
PMT-272
 
5128
PDE
rs72559440
 38300559-449-875
TGGATCTGTTTTTCACAGATCCCCC C → T GGCTTTTTTGGGGGTCTGATTTCAC
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
60
5
0
0.038
132
66
0
0
0.000
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272
 
5127
PDE
rs72559439
 38300531-421-847
CCGGAGAATGCCAAATATCAAATAC A → G CTTGGATCTGTTTTTCACAGATCCC
+ 
 
n=
A/A=
A/G=
G/G=
G=
130
64
1
0
0.008
132
66
0
0
0.000
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272
Promoter
5126
PDE
rs61933067
 38300168-58-484
CAGAAGTTTCAGAATATACATCACT T → C CGGTAAGATTTCAGTAGATACCGCA
+ 
 
n=
T/T=
T/C=
C/C=
C=
130
64
1
0
0.008
132
62
4
0
0.030
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272
Exon: 5UTR
Promoter
6170
 3830006843-384
AGTTAAAATGTCTATTTTTGGAGAG G → A TCGAATCAGGCCATCTGCTGGCGAA
+ 
 
n=
G/G=
G/A=
A/A=
A=
130
65
0
0
0.000
136
67
1
0
0.007
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272
Exon: 5UTR
6169
 38299905206-221
ATGATTCTCTCAGAAGCTCAAGCTG C → A ACCAAGCTCCTCCCTCCCAGGCCCC
+ 
 
n=
C/C=
C/A=
A/A=
A=
130
65
0
0
0.000
136
67
1
0
0.007
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272
Exon: 5UTR
6168
 38299876235-192
GAGCTCAGACTCCGCTGCATCTACC G → A GGAATGATTCTCTCAGAAGCTCAAG
+ 
 
n=
G/G=
G/A=
A/A=
A=
130
65
0
0
0.000
136
65
3
0
0.022
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272
Exon: Coding
6167
 3829965945226
CGATCTGGTCCATTTCACTCGATCA G → C CTGCTGCATTTAGCATATGTGTCAT
+9
Ala → Gly
n=
G/G=
G/C=
C/C=
C=
130
65
0
0
0.000
136
68
0
0
0.000
136
65
3
0
0.022
134
64
3
0
0.022
PMT-272
Exon: Coding
6166
 38299497614188
GGTCTCGGTGCAATGCAGTATTTCT G → C TGTTCTCTGCAGCAGGGTAAGCTGC
+63
Thr → Arg
n=
G/G=
G/C=
C/C=
C=
130
61
4
0
0.031
136
68
0
0
0.000
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272
Exon: Coding
6165
 38299420691265
GGAAACAAAATTTTCCGAAGTTCTA G → A TAGCTGTTTGAAGAAATCTGCATTC
+89
Leu = Leu
n=
G/G=
G/A=
A/A=
A=
130
62
3
0
0.023
136
68
0
0
0.000
136
68
0
0
0.000
134
67
0
0
0.000
PMT-272

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
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