UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABCA6
HGNC Symbol:ABCA6
HGNC Description:ATP-binding cassette, sub-family A (ABC1), member 6
HGNC ID:36
Chromosome:Chr.17(-): 64586442-64649610
Location:17q24.3
OMIM:
OMIM Phenotype:None
Accessions:AY028898
Nucleotide RefSeq:NM_080284
Protein RefSeq:NP_525023
Entrez:23460
Isoforms:1
Evidence:Substrate In Vivo Evidence: 1. Based on structural features and cholesterol-responsive regulation, this protein is potentially involved in macrophage lipid homeostasis. Kaminski, WE et al. Biochem Biophys Res Comm 2001 Aug 3, 285(5):1295-01 PMID 11478798 Tissue Distribution Evidence: 1. Cloned from human macrophages. Ubiquitously expressed with highest levels in liver, lung, heart, brain, and ovaries (mRNA dot blot). Kaminski, WE et al. Biochem Biophys Res Comm 2001 Aug 3, 285(5):1295-01 PMID 11478798.
Tissues:liver, lung, heart, brain, ovaries, ubiquitous
Type:protein coding
Sets:0
PharmGKB ID:PA24381
HPRD ID:10622
Substrates:unknown
Trivial Names:FLJ43498, EST155051
Transcripts:NM_080284 [Chr.17(-): 64586442-64649610]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCA6 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCA6 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
 
4140
PDE
rs72559406
 64650065-455-1626
ATAAAGCTAAGCAATCCATAGTACG C → T CTTGGAGAAACTCCTAGGACAGACA
+ 
 
n=
C/C=
C/T=
T/T=
T=
136
57
11
0
0.081
136
68
0
0
0.000
134
67
0
0
0.000
134
66
1
0
0.007
PMT-272
Promoter
4139
PDE
rs72559405
 64649793-183-1354
GTTCACTTAGCCTTTCAACTACAGG G → A ATAAGGGGGAAAACGGTAAACAAGG
+ 
 
n=
G/G=
G/A=
A/A=
A=
136
68
0
0
0.000
136
68
0
0
0.000
134
67
0
0
0.000
134
66
1
0
0.007
PMT-272
Promoter
4138
PDE
rs3744489
I64649733-123-1294
TTATTCTGCAAGGAAATGACTGTTC C → T GTGGTTGGTTGGGAATAAAATAAAC
+ 
 
n=
C/C=
C/T=
T/T=
T=
136
28
31
9
0.360
136
12
25
31
0.640
134
26
26
15
0.418
134
4
32
31
0.701
PMT-272
Promoter
4137
PDE
rs72559404
 64649727-117-1288
AGCCAATTATTCTGCAAGGAAATGA C → T TGTTCCGTGGTTGGTTGGGAATAAA
+ 
 
n=
C/C=
C/T=
T/T=
T=
136
67
1
0
0.007
136
68
0
0
0.000
134
67
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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