UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABCA9
HGNC Symbol:ABCA9
HGNC Description:ATP-binding cassette, sub-family A (ABC1), member 9
HGNC ID:39
Chromosome:Chr.17(-): 64482368-64568731
Location:17q24.2
OMIM:
OMIM Phenotype:None
Accessions:AL833712,AY028899
Nucleotide RefSeq:NM_080283
Protein RefSeq:NP_525022
Entrez:10350
Isoforms:1
Evidence:Substrate In Vivo Evidence: 1. ABCA9 was cloned from human macrophages. ABCA9 expression is induced during monocyte differentiation into macrophages and suppressed by cholesterol import, suggesting that ABCA9 is likely involved in monocyte differentiation and macrophage lipid homeostasis. Piehler, A et al. Biochem Biophys Res Comm 2002 Jul 12, 295(2):408-16 PMID 12150964. Tissue Distribution Evidence: 1. Ubiquitous expression with highest mRNA levels in heart, brain, and fetal tissues (RNA dot blot). Piehler, A et al. Biochem Biophys Res Comm 2002 Jul 12, 295(2):408-16 PMID 12150964.
Tissues:heart, brain, fetal tissues, ubiquitous
Type:protein coding
Sets:0
PharmGKB ID:PA24384
HPRD ID:12401
Substrates:unknown
Trivial Names:MGC75415, EST640918, DKFZp686F2450
Transcripts:NM_080283 [Chr.17(-): 64482368-64568731]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCA9 Resequencing
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Study Name:ABCA9 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
 
4149
 64569088-357-10226
ATATATATGTTATATATATATATAT T → ATT TTAAGTGACAAGTAAATACATACAA
+ 
 
n=
T/T=
T/ATT=
ATT/ATT=
ATT=
136
68
0
0
0.000
136
68
0
0
0.000
132
65
1
0
0.008
134
67
0
0
0.000
PMT-272
Promoter
4148
PDE
rs72559413
 64568914-183-10052
GGACATATCAAAACATTAGGAACTA T → A CAAACCAAGGAGAATCTAGCCTTTC
+ 
 
n=
T/T=
T/A=
A/A=
A=
136
68
0
0
0.000
136
68
0
0
0.000
132
65
1
0
0.008
134
67
0
0
0.000
PMT-272
Promoter
4147
PDE
rs11871944
I64568883-152-10021
GCAGGGAGTTTGTAGTTGCAGATGG T → C TGGCTGGACATATCAAAACATTAGG
+ 
 
n=
T/T=
T/C=
C/C=
C=
136
48
20
0
0.147
136
9
33
26
0.625
132
36
23
7
0.280
134
11
33
23
0.590
PMT-272
Promoter
4146
PDE
rs72559412
 64568880-149-10018
TCAGCAGGGAGTTTGTAGTTGCAGA T → C GGTTGGCTGGACATATCAAAACATT
+ 
 
n=
T/T=
T/C=
C/C=
C=
136
68
0
0
0.000
136
67
1
0
0.007
132
66
0
0
0.000
134
67
0
0
0.000
PMT-272
Promoter
4145
PDE
rs72559411
 64568778-47-9916
CCCAGGAGAATTTGGTCTCAGTTCA G → T CTAGCCTGCCAAAATATCTTCTGCT
+ 
 
n=
G/G=
G/T=
T/T=
T=
136
68
0
0
0.000
136
68
0
0
0.000
132
65
1
0
0.008
134
67
0
0
0.000
PMT-272
Promoter
4144
PDE
rs7212490
I64568764-33-9902
TTTTATACAAATTTCCCAGGAGAAT T → C TGGTCTCAGTTCAGCTAGCCTGCCA
+ 
 
n=
T/T=
T/C=
C/C=
C=
136
41
25
2
0.213
136
65
3
0
0.022
132
66
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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