UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABC13
HGNC Symbol:ABCA5
HGNC Description:ATP-binding cassette, sub-family A (ABC1), member 5
HGNC ID:35
Chromosome:Chr.17(-): 64754386-64834885
Location:17q24.3
OMIM:
OMIM Phenotype:None
Accessions:AB067475,AK096664,AY028897
Nucleotide RefSeq:NM_172232
Protein RefSeq:NP_758424
Entrez:23461
Isoforms:2
Evidence:Tissue Distribution Evidence: 1. Northern blot studies showed expression in skeletal muscle and at lower levels in kidney, liver, and placenta. Also detected in Caco-2 cells. Rat Abca5 mRNA expression is upregulated during culture of primary rat hepatocytes. Petry, F; Kotthaus, A; Hirsch-Ernst, KI. Biochem Biophys Res Comm 2003 Jan 10, 300(2):343-50 PMID 12504089.
Tissues:skeletal muscle, kidney, liver, placenta
Type:protein coding
Sets:0
PharmGKB ID:PA24380
HPRD ID:09789
Substrates:unknown
Trivial Names:ABC13, EST90625, FLJ16381, DKFZp451F117, DKFZp779N2435
Transcripts:NM_018672 [Chr.17(-): 64754386-64823523]
NM_172232 [Chr.17(-): 64754386-64834885]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCA5 Resequencing
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Study Name:ABCA5 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
 
4210
PDE
rs67903606
 64835205-320-13054
TCTCGCCACGCTCTTTCTGGAGGCA C → G GGGCAAAAACCACGGCCTCGTGTCT
+ 
 
n=
C/C=
C/G=
G/G=
G=
132
54
12
0
0.091
128
45
16
3
0.172
130
65
0
0
0.000
134
61
6
0
0.045
PMT-272
Promoter
4209
PDE
rs72559403
 64835063-178-12912
GCAGGCAAGCAGCGCGCCCGGAAGA G → A GAGAGCGGCTGAGGGTGGGGCGAGC
+ 
 
n=
G/G=
G/A=
A/A=
A=
132
65
1
0
0.008
130
65
0
0
0.000
130
65
0
0
0.000
136
66
2
0
0.015
PMT-272
Promoter
4208
PDE
rs72558002
 64835033-148-12882
AGACGCTCGGCCCCGCGCGTCCCGG C → G GCACGCAGGCAAGCAGCGCGCCCGG
+ 
 
n=
C/C=
C/G=
G/G=
G=
132
66
0
0
0.000
130
64
1
0
0.008
130
65
0
0
0.000
136
68
0
0
0.000
PMT-272
Promoter
4207
PDE
rs72558001
 64835010-125-12859
CGCTCCGCGTACGGGCGCGCTTCAG A → T CGCTCGGCCCCGCGCGTCCCGGCGC
+ 
 
n=
A/A=
A/T=
T/T=
T=
132
66
0
0
0.000
130
65
0
0
0.000
130
64
1
0
0.008
136
68
0
0
0.000
PMT-272
Promoter
4206
PDE
rs28697048
 64834963-78-12812
CCCGCCTCCTGCAGAGCGCACCTGA G → A GGCGGGGCTCCTAGAAAGCGCCGCT
+ 
 
n=
G/G=
G/A=
A/A=
A=
132
65
1
0
0.008
130
65
0
0
0.000
130
65
0
0
0.000
136
68
0
0
0.000
PMT-272
Exon: 5UTR
Promoter
5882
 648348815-12730
CAGCTGGGATCTGTGCGAGGGCGCG G → GCCGCGCGCAC CCGCGCGCACCCGCGCGCTCCTGGC
+ 
 
n=
G/G=
G/GCCGCGCGCAC=
GCCGCGCGCAC/GCCGCGCGCAC=
GCCGCGCGCAC=
130
49
16
0
0.123
130
48
17
0
0.131
130
56
9
0
0.069
136
53
15
0
0.110
PMT-272
Exon: 5UTR
5881
 6483479492-12643
CCCGCGACGCCCGCCTCACCTCAGG G → C CCCGAGCCGCAGAGCTGTCAGGCCT
+ 
 
n=
G/G=
G/C=
C/C=
C=
98
48
1
0
0.010
98
49
0
0
0.000
112
56
0
0
0.000
108
54
0
0
0.000
PMT-272
 
5880
 64834750 -12599
CCCCAGGGACGGCTGTCCCAGGCTA G → A CCTCAAGCGCCGCCGCCGCCCGCGA
+ 
 
n=
G/G=
G/A=
A/A=
A=
98
34
14
1
0.163
98
46
3
0
0.031
112
56
0
0
0.000
108
50
4
0
0.037
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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