Gene Gene information from NCBI Gene database.
Entrez ID 10350
Gene name ATP binding cassette subfamily A member 9
Gene symbol ABCA9
Synonyms (NCBI Gene)
EST640918
Chromosome 17
Chromosome location 17q24.2
Summary This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membr
miRNA miRNA information provided by mirtarbase database.
249
miRTarBase ID miRNA Experiments Reference
MIRT757988 hsa-miR-1185 CLIP-seq
MIRT757989 hsa-miR-1206 CLIP-seq
MIRT757990 hsa-miR-1227 CLIP-seq
MIRT757991 hsa-miR-1249 CLIP-seq
MIRT757992 hsa-miR-1260 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005319 Function Lipid transporter activity IBA
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IEA
GO:0006869 Process Lipid transport IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612507 39 ENSG00000154258
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IUA7
Protein name ATP-binding cassette sub-family A member 9 (EC 7.6.2.-)
Protein function Transporter that may play a role in monocyte differentiation and lipid transport and homeostasis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12698 ABC2_membrane_3 27 419 Family
PF00005 ABC_tran 500 646 ABC transporter Domain
PF12698 ABC2_membrane_3 908 1220 Family
PF00005 ABC_tran 1309 1449 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with higher expression in heart. {ECO:0000269|Ref.1}.
Sequence
MSKRRMSVGQQTWALLCKNCLKKWRMKRQTLLEWLFSFLLVLFLYLFFSNLHQVHDTPQM
SSMDLGRVDSFNDTNYVIAFAPESKTTQEIMNKVASAPFLKGRTIMGWPDEKSMDELDLN
YSIDAVRVIFTDTFSYHLKFSWGHRIPMMKEHRDHSAHCQAVNEKMKCEGSEFWEKGFVA
FQAAINAAIIEIATNHSVMEQLMSVTGVHMKILPFVAQGGVATDFFIFFCIISFSTFIYY
VSVNVTQERQYITSLMTMMGLRESAFWLSWGLMYAGFILIMATLMALIVKSAQIVVLTGF
VMVFTLFLLYGLSLITLAFLMSVLIKKPFLTGLVVFLLIVFWGILGFPALYTRLPAFLEW
TLCLLSPFAFTVGMAQLIHLDYDVNSNAHLDSSQNPYLIIATLFMLVFDTLLYLVLTLY
F
DKILPAEYGHRCSPLFFLKSCFWFQHGRANHVVLENETDSDPTPNDCFEPVSPEFCGKEA
IRIKNLKKEYAGKCERVEALKGVVFDIYEGQITALLGHSGAGKTTLLNILSGLSVPTSGS
VTVYNHTLSRMADIENISKFTGFCPQSNVQFGFLTVKENLRLFAKIKGILPHEVEKEVQR
VVQELEMENIQDILAQNLSGGQNRKLTFGIAILGDPQVLLLDEPTA
GLDPLSRHRIWNLL
KEGKSDRVILFSTQFIDEADILADRKVFISNGKLKCAGSSLFLKKKWGIGYHLSLHLNER
CDPESITSLVKQHISDAKLTAQSEEKLVYILPLERTNKFPELYRDLDRCSNQGIEDYGVS
ITTLNEVFLKLEGKSTIDESDIGIWGQLQTDGAKDIGSLVELEQVLSSFHETRKTISGVA
LWRQQVCAIAKVRFLKLKKERKSLWTILLLFGISFIPQLLEHLFYESYQKSYPWELSPNT
YFLSPGQQPQDPLTHLLVINKTGSTIDNFLHSLRRQNIAIEVDAFGTRNGTDDPSYNGAI
IVSGDEKDHRFSIACNTKRLNCFPVLLDVISNGLLGIFNSSEHIQTDRSTFFEEHMDYEY
GYRSNTFFWIPMAASFTPYIAMSSIGDYKKKAHSQLRISGLYPSAYWFGQALVDVSLYFL
ILLLMQIMDYIFSPEEIIFIIQNLLIQILCSIGYVSSLVFLTYVISFIFRNGRKNSGIWS
FFFLIVVIFSIVATDLNEYGFLGLFFGTMLIPPFTLIGSLFIFSEISPDSMDYLGASESE
IVYLALLIPYLHFLIFLFIL
RCLEMNCRKKLMRKDPVFRISPRSNAIFPNPEEPEGEEED
IQMERMRTVNAMAVRDFDETPVIIASCLRKEYAGKKKNCFSKRKKKIATRNVSFCVKKGE
VIGLLGHNGAGKSTTIKMITGDTKPTAGQVILKGSGGGEPLGFLGYCPQENALWPNLTVR
QHLEVYAAVKGLRKGDAMIAITRLVDALKLQDQLKAPVKTLSEGIKRKLCFVLSILGNPS
VVLLDEPST
GMDPEGQQQMWQVIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLR
CIGSIQHLKSKFGKDYLLEMKLKNLAQMEPLHAEILRLFPQAAQQERFSSLMVYKLPVED
VRPLSQAFFKLEIVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDLEEDFDPSVKWKLLL
QEEP
Sequence length 1624
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs150105567 RCV005926915
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36879187
Carcinoma Ovarian Epithelial Associate 24957074
Neoplasms Associate 24957074
Ovarian Neoplasms Associate 24957074
Pseudoxanthoma Elasticum Stimulate 18936737