ABCA9 (ATP binding cassette subfamily A member 9) - Rat Genome Database

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Gene: ABCA9 (ATP binding cassette subfamily A member 9) Homo sapiens
Analyze
Symbol: ABCA9
Name: ATP binding cassette subfamily A member 9
RGD ID: 1314254
HGNC Page HGNC:39
Description: Predicted to enable ATPase-coupled transmembrane transporter activity and lipid transporter activity. Predicted to be involved in lipid transport. Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-binding cassette A9; ATP-binding cassette sub-family A member 9; ATP-binding cassette, sub-family A (ABC1), member 9; DKFZp686F2450; EST640918; MGC75415
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
GRCh381768,974,488 - 69,078,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,974,488 - 69,060,949 (-)EnsemblGRCh38hg38GRCh38
GRCh371766,970,629 - 67,057,068 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,482,368 - 64,568,731 (-)NCBINCBI36Build 36hg18NCBI36
Build 341764,482,576 - 64,568,731NCBI
Celera1763,542,632 - 63,628,962 (-)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1762,356,443 - 62,442,892 (-)NCBIHuRef
CHM1_11767,035,607 - 67,121,963 (-)NCBICHM1_1
T2T-CHM13v2.01769,851,402 - 69,955,867 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889549   PMID:8894702   PMID:11435397   PMID:12150964   PMID:12477932   PMID:14702039   PMID:15489334   PMID:20877624   PMID:21873635   PMID:24623722   PMID:31081967   PMID:33961781  
PMID:36576228  


Genomics

Comparative Map Data
ABCA9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381768,974,488 - 69,078,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,974,488 - 69,060,949 (-)EnsemblGRCh38hg38GRCh38
GRCh371766,970,629 - 67,057,068 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,482,368 - 64,568,731 (-)NCBINCBI36Build 36hg18NCBI36
Build 341764,482,576 - 64,568,731NCBI
Celera1763,542,632 - 63,628,962 (-)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1762,356,443 - 62,442,892 (-)NCBIHuRef
CHM1_11767,035,607 - 67,121,963 (-)NCBICHM1_1
T2T-CHM13v2.01769,851,402 - 69,955,867 (-)NCBIT2T-CHM13v2.0
Abca9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911109,990,919 - 110,059,532 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11109,991,575 - 110,059,022 (-)EnsemblGRCm39 Ensembl
GRCm3811110,100,749 - 110,168,274 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11110,100,749 - 110,168,196 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711109,962,136 - 110,029,467 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611109,916,912 - 109,984,243 (-)NCBIMGSCv36mm8
Celera11121,836,912 - 121,904,348 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1173.22NCBI
Abca9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81095,577,079 - 95,638,706 (-)NCBIGRCr8
mRatBN7.21095,077,615 - 95,137,751 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1095,079,058 - 95,139,608 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01098,412,263 - 98,472,258 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1098,412,263 - 98,469,799 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01098,123,022 - 98,179,424 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41099,558,803 - 99,619,870 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11099,573,172 - 99,632,169 (-)NCBI
Celera1093,727,765 - 93,787,410 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Abca9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554783,718,503 - 3,787,865 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554783,718,494 - 3,785,147 (+)NCBIChiLan1.0ChiLan1.0
ABCA9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21985,000,715 - 85,082,067 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11789,819,486 - 89,907,727 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01762,909,042 - 62,990,807 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11768,298,474 - 68,375,091 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1768,298,474 - 68,375,077 (-)Ensemblpanpan1.1panPan2
ABCA9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1915,515,462 - 15,574,890 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl915,420,835 - 15,783,045 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha916,408,511 - 16,467,049 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0917,177,098 - 17,236,344 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl917,178,062 - 17,236,178 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1916,121,762 - 16,180,755 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0911,352,708 - 11,410,875 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0911,352,192 - 11,411,234 (+)NCBIUU_Cfam_GSD_1.0
LOC101961352
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560210,921,750 - 10,977,788 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365418,117,950 - 8,365,522 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365418,216,805 - 8,272,825 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCA9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1211,294,698 - 11,359,523 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11211,294,729 - 11,359,529 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21211,731,504 - 11,796,217 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCA9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11652,524,331 - 52,601,860 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1652,534,259 - 52,602,108 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607723,425,692 - 23,503,534 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abca9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248703,924,432 - 3,993,497 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248703,923,616 - 4,007,890 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCA9
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1 copy number loss See cases [RCV000053452] Chr17:67833866..70085854 [GRCh38]
Chr17:65829982..68081995 [GRCh37]
Chr17:63260444..65593590 [NCBI36]
Chr17:17q24.2-24.3		 pathogenic
NM_080283.3(ABCA9):c.4089C>T (p.Phe1363=) single nucleotide variant Malignant melanoma [RCV000071634] Chr17:68986283 [GRCh38]
Chr17:66982424 [GRCh37]
Chr17:64494019 [NCBI36]
Chr17:17q24.2		 not provided
NM_080283.3(ABCA9):c.2488C>T (p.His830Tyr) single nucleotide variant Malignant melanoma [RCV000071635] Chr17:69020500 [GRCh38]
Chr17:67016641 [GRCh37]
Chr17:64528236 [NCBI36]
Chr17:17q24.2		 not provided
NM_080283.3(ABCA9):c.2487C>T (p.Phe829=) single nucleotide variant Malignant melanoma [RCV000071636] Chr17:69020501 [GRCh38]
Chr17:67016642 [GRCh37]
Chr17:64528237 [NCBI36]
Chr17:17q24.2		 not provided
NM_080283.3(ABCA9):c.1291C>T (p.Arg431Ter) single nucleotide variant Malignant melanoma [RCV000071637] Chr17:69032262 [GRCh38]
Chr17:67028403 [GRCh37]
Chr17:64539998 [NCBI36]
Chr17:17q24.2		 not provided
NM_080283.3(ABCA9):c.3040-2063A>G single nucleotide variant Lung cancer [RCV000100616] Chr17:69014146 [GRCh38]
Chr17:67010287 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.3(ABCA9):c.801-2697G>A single nucleotide variant Lung cancer [RCV000100617] Chr17:69038498 [GRCh38]
Chr17:67034639 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.3(ABCA9):c.-14+1109C>A single nucleotide variant Lung cancer [RCV000100618] Chr17:69059757 [GRCh38]
Chr17:67055898 [GRCh37]
Chr17:17q24.2		 uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 copy number loss See cases [RCV000143113] Chr17:68420514..71351235 [GRCh38]
Chr17:66416655..69347376 [GRCh37]
Chr17:63928250..66858971 [NCBI36]
Chr17:17q24.2-24.3		 pathogenic
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 copy number gain See cases [RCV000446484] Chr17:65343022..69344022 [GRCh37]
Chr17:17q24.2-24.3		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17q24.2-24.3(chr17:66673047-67239694)x3 copy number gain See cases [RCV000510468] Chr17:66673047..67239694 [GRCh37]
Chr17:17q24.2-24.3		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_080283.4(ABCA9):c.818T>C (p.Met273Thr) single nucleotide variant Inborn genetic diseases [RCV003260175] Chr17:69035784 [GRCh38]
Chr17:67031925 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4171G>A (p.Gly1391Ser) single nucleotide variant Inborn genetic diseases [RCV003243921] Chr17:68986201 [GRCh38]
Chr17:66982342 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1529G>T (p.Gly510Val) single nucleotide variant Inborn genetic diseases [RCV003276915] Chr17:69028621 [GRCh38]
Chr17:67024762 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1442T>C (p.Ile481Thr) single nucleotide variant Inborn genetic diseases [RCV003266937] Chr17:69032111 [GRCh38]
Chr17:67028252 [GRCh37]
Chr17:17q24.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q24.2(chr17:67051608-67090112)x1 copy number loss not provided [RCV000683954] Chr17:67051608..67090112 [GRCh37]
Chr17:17q24.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_080283.4(ABCA9):c.1000G>A (p.Val334Ile) single nucleotide variant Inborn genetic diseases [RCV003289609] Chr17:69035374 [GRCh38]
Chr17:67031515 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.676T>G (p.Phe226Val) single nucleotide variant Inborn genetic diseases [RCV003275643] Chr17:69043613 [GRCh38]
Chr17:67039754 [GRCh37]
Chr17:17q24.2		 uncertain significance
GRCh37/hg19 17q24.2-24.3(chr17:66531148-67241132)x3 copy number gain not provided [RCV001259903] Chr17:66531148..67241132 [GRCh37]
Chr17:17q24.2-24.3		 uncertain significance
NM_080283.4(ABCA9):c.1387A>G (p.Thr463Ala) single nucleotide variant Inborn genetic diseases [RCV003275387] Chr17:69032166 [GRCh38]
Chr17:67028307 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3827A>G (p.Asp1276Gly) single nucleotide variant Inborn genetic diseases [RCV003262711] Chr17:68990847 [GRCh38]
Chr17:66986988 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1889T>C (p.Ile630Thr) single nucleotide variant Inborn genetic diseases [RCV002685049] Chr17:69027352 [GRCh38]
Chr17:67023493 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4244A>G (p.Lys1415Arg) single nucleotide variant Inborn genetic diseases [RCV002968543] Chr17:68985093 [GRCh38]
Chr17:66981234 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2558G>A (p.Arg853His) single nucleotide variant Inborn genetic diseases [RCV002682743] Chr17:69020430 [GRCh38]
Chr17:67016571 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1343G>A (p.Arg448Lys) single nucleotide variant Inborn genetic diseases [RCV002883755] Chr17:69032210 [GRCh38]
Chr17:67028351 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3068G>A (p.Arg1023Gln) single nucleotide variant Inborn genetic diseases [RCV002776800] Chr17:69012055 [GRCh38]
Chr17:67008196 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4826A>G (p.Asp1609Gly) single nucleotide variant Inborn genetic diseases [RCV002773922] Chr17:68975964 [GRCh38]
Chr17:66972105 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4373A>C (p.Gln1458Pro) single nucleotide variant Inborn genetic diseases [RCV002992525] Chr17:68984891 [GRCh38]
Chr17:66981032 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2294A>C (p.Asp765Ala) single nucleotide variant Inborn genetic diseases [RCV002752890] Chr17:69021849 [GRCh38]
Chr17:67017990 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4552C>A (p.Leu1518Met) single nucleotide variant Inborn genetic diseases [RCV002689431] Chr17:68983797 [GRCh38]
Chr17:66979938 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2585A>G (p.Lys862Arg) single nucleotide variant Inborn genetic diseases [RCV002818430] Chr17:69020403 [GRCh38]
Chr17:67016544 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3457G>A (p.Ala1153Thr) single nucleotide variant Inborn genetic diseases [RCV002902683] Chr17:68995993 [GRCh38]
Chr17:66992134 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2723A>C (p.Gln908Pro) single nucleotide variant Inborn genetic diseases [RCV002762732] Chr17:69018457 [GRCh38]
Chr17:67014598 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.559G>A (p.Ala187Thr) single nucleotide variant Inborn genetic diseases [RCV002661205] Chr17:69044511 [GRCh38]
Chr17:67040652 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3847A>G (p.Ile1283Val) single nucleotide variant Inborn genetic diseases [RCV002737489] Chr17:68989921 [GRCh38]
Chr17:66986062 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3533G>A (p.Gly1178Asp) single nucleotide variant Inborn genetic diseases [RCV002887767] Chr17:68995917 [GRCh38]
Chr17:66992058 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2678C>T (p.Pro893Leu) single nucleotide variant Inborn genetic diseases [RCV002924362] Chr17:69018502 [GRCh38]
Chr17:67014643 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4730G>A (p.Ser1577Asn) single nucleotide variant Inborn genetic diseases [RCV002950426] Chr17:68976181 [GRCh38]
Chr17:66972322 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.233T>C (p.Ile78Thr) single nucleotide variant Inborn genetic diseases [RCV002661119] Chr17:69049354 [GRCh38]
Chr17:67045495 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.199C>G (p.Arg67Gly) single nucleotide variant Inborn genetic diseases [RCV002759354] Chr17:69049388 [GRCh38]
Chr17:67045529 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2813T>C (p.Ile938Thr) single nucleotide variant Inborn genetic diseases [RCV002950548] Chr17:69017744 [GRCh38]
Chr17:67013885 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1606C>T (p.Pro536Ser) single nucleotide variant Inborn genetic diseases [RCV002758322] Chr17:69028544 [GRCh38]
Chr17:67024685 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1114G>A (p.Val372Ile) single nucleotide variant Inborn genetic diseases [RCV002844667] Chr17:69035260 [GRCh38]
Chr17:67031401 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2302A>G (p.Arg768Gly) single nucleotide variant Inborn genetic diseases [RCV002919392] Chr17:69021841 [GRCh38]
Chr17:67017982 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1133T>C (p.Ile378Thr) single nucleotide variant Inborn genetic diseases [RCV002850072] Chr17:69033869 [GRCh38]
Chr17:67030010 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2633A>C (p.Gln878Pro) single nucleotide variant Inborn genetic diseases [RCV002767053] Chr17:69018547 [GRCh38]
Chr17:67014688 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.916C>T (p.Leu306Phe) single nucleotide variant Inborn genetic diseases [RCV002892628] Chr17:69035686 [GRCh38]
Chr17:67031827 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2557C>T (p.Arg853Cys) single nucleotide variant Inborn genetic diseases [RCV002666473] Chr17:69020431 [GRCh38]
Chr17:67016572 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2164G>T (p.Asp722Tyr) single nucleotide variant Inborn genetic diseases [RCV002850367] Chr17:69024331 [GRCh38]
Chr17:67020472 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3683G>A (p.Arg1228Lys) single nucleotide variant Inborn genetic diseases [RCV002916504] Chr17:68992208 [GRCh38]
Chr17:66988349 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1630T>A (p.Tyr544Asn) single nucleotide variant Inborn genetic diseases [RCV002955962] Chr17:69027801 [GRCh38]
Chr17:67023942 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.964A>G (p.Ser322Gly) single nucleotide variant Inborn genetic diseases [RCV002892159] Chr17:69035410 [GRCh38]
Chr17:67031551 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1856G>A (p.Ser619Asn) single nucleotide variant Inborn genetic diseases [RCV002850704] Chr17:69027385 [GRCh38]
Chr17:67023526 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2515G>A (p.Val839Met) single nucleotide variant Inborn genetic diseases [RCV002666306] Chr17:69020473 [GRCh38]
Chr17:67016614 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.844G>A (p.Ala282Thr) single nucleotide variant Inborn genetic diseases [RCV002965539] Chr17:69035758 [GRCh38]
Chr17:67031899 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4529G>C (p.Ser1510Thr) single nucleotide variant Inborn genetic diseases [RCV002809386] Chr17:68983820 [GRCh38]
Chr17:66979961 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1874A>G (p.Lys625Arg) single nucleotide variant Inborn genetic diseases [RCV002898515] Chr17:69027367 [GRCh38]
Chr17:67023508 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.330T>G (p.Asp110Glu) single nucleotide variant Inborn genetic diseases [RCV002675034] Chr17:69045311 [GRCh38]
Chr17:67041452 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4474G>C (p.Ala1492Pro) single nucleotide variant Inborn genetic diseases [RCV002835793] Chr17:68984081 [GRCh38]
Chr17:66980222 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4469G>A (p.Arg1490Gln) single nucleotide variant Inborn genetic diseases [RCV002960340] Chr17:68984086 [GRCh38]
Chr17:66980227 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3414T>G (p.Ile1138Met) single nucleotide variant Inborn genetic diseases [RCV002648744] Chr17:69007780 [GRCh38]
Chr17:67003921 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.373G>A (p.Ala125Thr) single nucleotide variant Inborn genetic diseases [RCV002655452] Chr17:69045268 [GRCh38]
Chr17:67041409 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2321T>C (p.Ile774Thr) single nucleotide variant Inborn genetic diseases [RCV002722207] Chr17:69021822 [GRCh38]
Chr17:67017963 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.40G>T (p.Ala14Ser) single nucleotide variant Inborn genetic diseases [RCV003297748] Chr17:69051087 [GRCh38]
Chr17:67047228 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4390C>T (p.Arg1464Trp) single nucleotide variant Inborn genetic diseases [RCV003196060] Chr17:68984165 [GRCh38]
Chr17:66980306 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.914C>T (p.Thr305Ile) single nucleotide variant Inborn genetic diseases [RCV003189145] Chr17:69035688 [GRCh38]
Chr17:67031829 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.202G>T (p.Val68Leu) single nucleotide variant Inborn genetic diseases [RCV003219476] Chr17:69049385 [GRCh38]
Chr17:67045526 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.160G>A (p.Val54Ile) single nucleotide variant Inborn genetic diseases [RCV003218667] Chr17:69049427 [GRCh38]
Chr17:67045568 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1052A>G (p.Tyr351Cys) single nucleotide variant Inborn genetic diseases [RCV003186664] Chr17:69035322 [GRCh38]
Chr17:67031463 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4685G>A (p.Arg1562Gln) single nucleotide variant Inborn genetic diseases [RCV003283224] Chr17:68982597 [GRCh38]
Chr17:66978738 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.466T>C (p.Ser156Pro) single nucleotide variant Inborn genetic diseases [RCV003300533] Chr17:69045175 [GRCh38]
Chr17:67041316 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3820G>A (p.Val1274Met) single nucleotide variant Inborn genetic diseases [RCV003211045] Chr17:68990854 [GRCh38]
Chr17:66986995 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3601A>G (p.Ile1201Val) single nucleotide variant Inborn genetic diseases [RCV003184124] Chr17:68993039 [GRCh38]
Chr17:66989180 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.4027A>G (p.Thr1343Ala) single nucleotide variant Inborn genetic diseases [RCV003265320] Chr17:68989047 [GRCh38]
Chr17:66985188 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.597G>A (p.Met199Ile) single nucleotide variant Inborn genetic diseases [RCV003309444] Chr17:69043692 [GRCh38]
Chr17:67039833 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.788A>G (p.Glu263Gly) single nucleotide variant Inborn genetic diseases [RCV003357439] Chr17:69043501 [GRCh38]
Chr17:67039642 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1399T>A (p.Cys467Ser) single nucleotide variant Inborn genetic diseases [RCV003372228] Chr17:69032154 [GRCh38]
Chr17:67028295 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.3369T>C (p.Tyr1123=) single nucleotide variant not provided [RCV003421445] Chr17:69007825 [GRCh38]
Chr17:67003966 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.1795C>A (p.Gln599Lys) single nucleotide variant Inborn genetic diseases [RCV003351022] Chr17:69027446 [GRCh38]
Chr17:67023587 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.2203T>C (p.Ser735Pro) single nucleotide variant Inborn genetic diseases [RCV003364957] Chr17:69024292 [GRCh38]
Chr17:67020433 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.3567T>A (p.Asp1189Glu) single nucleotide variant Inborn genetic diseases [RCV003365147] Chr17:68993073 [GRCh38]
Chr17:66989214 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.434G>A (p.Arg145Lys) single nucleotide variant Inborn genetic diseases [RCV003370976] Chr17:69045207 [GRCh38]
Chr17:67041348 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.596T>G (p.Met199Arg) single nucleotide variant Inborn genetic diseases [RCV003347400] Chr17:69043693 [GRCh38]
Chr17:67039834 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3079T>G (p.Phe1027Val) single nucleotide variant Inborn genetic diseases [RCV003370471] Chr17:69012044 [GRCh38]
Chr17:67008185 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.730A>G (p.Asn244Asp) single nucleotide variant Inborn genetic diseases [RCV003367157] Chr17:69043559 [GRCh38]
Chr17:67039700 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1811A>T (p.Glu604Val) single nucleotide variant Inborn genetic diseases [RCV003383212] Chr17:69027430 [GRCh38]
Chr17:67023571 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.3289A>T (p.Ile1097Phe) single nucleotide variant Inborn genetic diseases [RCV003370365] Chr17:69008094 [GRCh38]
Chr17:67004235 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_080283.4(ABCA9):c.1055C>G (p.Thr352Arg) single nucleotide variant Inborn genetic diseases [RCV003368916] Chr17:69035319 [GRCh38]
Chr17:67031460 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.3214C>T (p.Leu1072=) single nucleotide variant not provided [RCV003421446] Chr17:69008169 [GRCh38]
Chr17:67004310 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.4665G>A (p.Lys1555=) single nucleotide variant not provided [RCV003421444] Chr17:68982617 [GRCh38]
Chr17:66978758 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.3822G>A (p.Val1274=) single nucleotide variant not provided [RCV003428428] Chr17:68990852 [GRCh38]
Chr17:66986993 [GRCh37]
Chr17:17q24.2		 likely benign
NM_080283.4(ABCA9):c.3324C>T (p.Ile1108=) single nucleotide variant not provided [RCV003413322] Chr17:69007870 [GRCh38]
Chr17:67004011 [GRCh37]
Chr17:17q24.2		 likely benign
GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3 copy number gain not specified [RCV003987225] Chr17:66271342..67205346 [GRCh37]
Chr17:17q24.2-24.3		 uncertain significance
NM_080283.4(ABCA9):c.170C>T (p.Thr57Ile) single nucleotide variant Inborn genetic diseases [RCV003378582] Chr17:69049417 [GRCh38]
Chr17:67045558 [GRCh37]
Chr17:17q24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1908
Count of miRNA genes:824
Interacting mature miRNAs:941
Transcripts:ENST00000340001, ENST00000370732, ENST00000453985, ENST00000460872, ENST00000461623, ENST00000482072, ENST00000492580, ENST00000495634, ENST00000585714
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH48279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371767,016,578 - 67,016,705UniSTSGRCh37
Build 361764,528,173 - 64,528,300RGDNCBI36
Celera1763,588,414 - 63,588,541RGD
Cytogenetic Map17q24.2UniSTS
HuRef1762,402,331 - 62,402,458UniSTS
GeneMap99-GB4 RH Map17428.26UniSTS
SHGC-63484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371767,056,928 - 67,057,027UniSTSGRCh37
Build 361764,568,523 - 64,568,622RGDNCBI36
Celera1763,628,754 - 63,628,853RGD
Cytogenetic Map17q24.2UniSTS
HuRef1762,442,684 - 62,442,783UniSTS
TNG Radiation Hybrid Map1730518.0UniSTS
RH102906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,970,795 - 66,970,915UniSTSGRCh37
Build 361764,482,390 - 64,482,510RGDNCBI36
Celera1763,542,654 - 63,542,774RGD
Cytogenetic Map17q24.2UniSTS
HuRef1762,356,465 - 62,356,585UniSTS
GeneMap99-GB4 RH Map17432.37UniSTS
D17S1474E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371767,056,918 - 67,057,022UniSTSGRCh37
Build 361764,568,513 - 64,568,617RGDNCBI36
Celera1763,628,744 - 63,628,848RGD
Cytogenetic Map17q24.2UniSTS
HuRef1762,442,674 - 62,442,778UniSTS
RH46167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,981,023 - 66,981,247UniSTSGRCh37
GRCh371766,872,598 - 66,872,822UniSTSGRCh37
Build 361764,384,193 - 64,384,417RGDNCBI36
Celera1763,552,875 - 63,553,099UniSTS
Celera1763,444,434 - 63,444,658RGD
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q24.2UniSTS
HuRef1762,258,547 - 62,258,771UniSTS
HuRef1762,366,686 - 62,366,910UniSTS
GeneMap99-GB4 RH Map17432.57UniSTS


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 1535 1309 768 217 142 116 2598 1339 732 23 540 957 102 1194 1688
Low 719 935 875 366 687 304 1510 809 2847 226 721 394 65 1 10 1100 1 2
Below cutoff 121 727 74 36 1055 37 211 34 129 129 152 204 6 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_080283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF423307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW130042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU072174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU076154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W84726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340001   ⟹   ENSP00000342216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,974,488 - 69,060,927 (-)Ensembl
RefSeq Acc Id: ENST00000453985   ⟹   ENSP00000394264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,974,632 - 69,060,924 (-)Ensembl
RefSeq Acc Id: ENST00000460872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,989,925 - 68,992,682 (-)Ensembl
RefSeq Acc Id: ENST00000461623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,032,601 - 69,049,357 (-)Ensembl
RefSeq Acc Id: ENST00000482072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,986,608 - 68,989,141 (-)Ensembl
RefSeq Acc Id: ENST00000492580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,011,825 - 69,017,772 (-)Ensembl
RefSeq Acc Id: ENST00000495634   ⟹   ENSP00000465601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,042,915 - 69,060,906 (-)Ensembl
RefSeq Acc Id: ENST00000585714   ⟹   ENSP00000465191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,049,318 - 69,060,949 (-)Ensembl
RefSeq Acc Id: NM_080283   ⟹   NP_525022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,974,488 - 69,060,927 (-)NCBI
GRCh371766,970,773 - 67,058,442 (-)NCBI
Build 361764,482,368 - 64,568,731 (-)NCBI Archive
Celera1763,542,632 - 63,628,962 (-)RGD
HuRef1762,356,443 - 62,442,892 (-)ENTREZGENE
CHM1_11767,035,607 - 67,121,963 (-)NCBI
T2T-CHM13v2.01769,851,402 - 69,937,821 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024011   ⟹   XP_016879500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,974,488 - 69,062,103 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024012   ⟹   XP_016879501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,975,241 - 69,060,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024013   ⟹   XP_016879502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,975,241 - 69,078,977 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024015   ⟹   XP_016879504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,975,241 - 69,045,251 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450529   ⟹   XP_024306297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,975,241 - 69,062,103 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450530   ⟹   XP_024306298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,975,241 - 69,061,831 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450531   ⟹   XP_024306299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,993,065 - 69,062,103 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047435106   ⟹   XP_047291062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,975,241 - 69,060,927 (-)NCBI
RefSeq Acc Id: XM_047435107   ⟹   XP_047291063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,975,241 - 69,062,103 (-)NCBI
RefSeq Acc Id: XM_054314680   ⟹   XP_054170655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,851,402 - 69,938,997 (-)NCBI
RefSeq Acc Id: XM_054314681   ⟹   XP_054170656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,852,276 - 69,938,876 (-)NCBI
RefSeq Acc Id: XM_054314682   ⟹   XP_054170657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,852,276 - 69,955,867 (-)NCBI
RefSeq Acc Id: XM_054314683   ⟹   XP_054170658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,852,276 - 69,922,165 (-)NCBI
RefSeq Acc Id: XR_007065256
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,983,737 - 69,062,103 (-)NCBI
Protein Sequences
Protein RefSeqs NP_525022 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879500 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879501 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879502 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879504 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306297 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306298 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306299 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291062 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170655 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170656 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170657 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170658 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH62472 (Get FASTA)   NCBI Sequence Viewer  
  AAK30024 (Get FASTA)   NCBI Sequence Viewer  
  AAN32751 (Get FASTA)   NCBI Sequence Viewer  
  BAB71359 (Get FASTA)   NCBI Sequence Viewer  
  BAC11021 (Get FASTA)   NCBI Sequence Viewer  
  CAH10479 (Get FASTA)   NCBI Sequence Viewer  
  EAW89071 (Get FASTA)   NCBI Sequence Viewer  
  EAW89072 (Get FASTA)   NCBI Sequence Viewer  
  EAW89073 (Get FASTA)   NCBI Sequence Viewer  
  EAW89074 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000342216
  ENSP00000342216.3
  ENSP00000394264.2
  ENSP00000465191.1
  ENSP00000465601.1
GenBank Protein Q8IUA7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_525022   ⟸   NM_080283
- UniProtKB: Q8WWZ5 (UniProtKB/Swiss-Prot),   Q8N2S4 (UniProtKB/Swiss-Prot),   Q6P655 (UniProtKB/Swiss-Prot),   Q96MD8 (UniProtKB/Swiss-Prot),   Q8IUA7 (UniProtKB/Swiss-Prot),   H0Y4U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879500   ⟸   XM_017024011
- Peptide Label: isoform X2
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879502   ⟸   XM_017024013
- Peptide Label: isoform X3
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879501   ⟸   XM_017024012
- Peptide Label: isoform X3
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879504   ⟸   XM_017024015
- Peptide Label: isoform X5
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306297   ⟸   XM_024450529
- Peptide Label: isoform X1
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306298   ⟸   XM_024450530
- Peptide Label: isoform X3
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306299   ⟸   XM_024450531
- Peptide Label: isoform X6
- UniProtKB: Q6AI35 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000394264   ⟸   ENST00000453985
RefSeq Acc Id: ENSP00000465191   ⟸   ENST00000585714
RefSeq Acc Id: ENSP00000465601   ⟸   ENST00000495634
RefSeq Acc Id: ENSP00000342216   ⟸   ENST00000340001
RefSeq Acc Id: XP_047291063   ⟸   XM_047435107
- Peptide Label: isoform X4
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047291062   ⟸   XM_047435106
- Peptide Label: isoform X4
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170655   ⟸   XM_054314680
- Peptide Label: isoform X2
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170657   ⟸   XM_054314682
- Peptide Label: isoform X3
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170656   ⟸   XM_054314681
- Peptide Label: isoform X3
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170658   ⟸   XM_054314683
- Peptide Label: isoform X5
- UniProtKB: H0Y4U7 (UniProtKB/TrEMBL)
Protein Domains
ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IUA7-F1-model_v2 AlphaFold Q8IUA7 1-1624 view protein structure

Promoters
RGD ID:7236133
Promoter ID:EPDNEW_H23812
Type:initiation region
Name:ABCA9_1
Description:ATP binding cassette subfamily A member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23813  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381769,060,927 - 69,060,987EPDNEW
RGD ID:7236135
Promoter ID:EPDNEW_H23813
Type:multiple initiation site
Name:ABCA9_2
Description:ATP binding cassette subfamily A member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23812  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381769,067,604 - 69,067,664EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:39 AgrOrtholog
COSMIC ABCA9 COSMIC
Ensembl Genes ENSG00000154258 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340001 ENTREZGENE
  ENST00000340001.9 UniProtKB/Swiss-Prot
  ENST00000453985.6 UniProtKB/TrEMBL
  ENST00000495634.5 UniProtKB/Swiss-Prot
  ENST00000585714.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154258 GTEx
HGNC ID HGNC:39 ENTREZGENE
Human Proteome Map ABCA9 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC2_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10350 UniProtKB/Swiss-Prot
NCBI Gene 10350 ENTREZGENE
OMIM 612507 OMIM
PANTHER PTHR19229 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19229:SF120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC2_membrane_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24384 PharmGKB
PROSITE ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ABCA9_HUMAN UniProtKB/Swiss-Prot
  H0Y4U7 ENTREZGENE, UniProtKB/TrEMBL
  K7EJJ0_HUMAN UniProtKB/TrEMBL
  Q6AI35 ENTREZGENE, UniProtKB/TrEMBL
  Q6P655 ENTREZGENE
  Q8IUA7 ENTREZGENE
  Q8N2S4 ENTREZGENE
  Q8WWZ5 ENTREZGENE
  Q96MD8 ENTREZGENE
UniProt Secondary Q6P655 UniProtKB/Swiss-Prot
  Q8N2S4 UniProtKB/Swiss-Prot
  Q8WWZ5 UniProtKB/Swiss-Prot
  Q96MD8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 ABCA9  ATP binding cassette subfamily A member 9  ABCA9  ATP-binding cassette, sub-family A (ABC1), member 9  Symbol and/or name change 5135510 APPROVED