Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
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

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Show/Hide all (249)

miRTarBase ID	miRNA	Experiments
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
MIRT757993	hsa-miR-1260b	CLIP-seq
MIRT757994	hsa-miR-135a	CLIP-seq
MIRT757995	hsa-miR-135b	CLIP-seq
MIRT757996	hsa-miR-146a	CLIP-seq
MIRT757997	hsa-miR-146b-5p	CLIP-seq
MIRT757998	hsa-miR-153	CLIP-seq
MIRT757999	hsa-miR-188-3p	CLIP-seq
MIRT758000	hsa-miR-18a	CLIP-seq
MIRT758001	hsa-miR-18b	CLIP-seq
MIRT758002	hsa-miR-1914	CLIP-seq
MIRT758003	hsa-miR-208a	CLIP-seq
MIRT758004	hsa-miR-208b	CLIP-seq
MIRT758005	hsa-miR-2116	CLIP-seq
MIRT758006	hsa-miR-30a	CLIP-seq
MIRT758007	hsa-miR-30b	CLIP-seq
MIRT758008	hsa-miR-30c	CLIP-seq
MIRT758009	hsa-miR-30d	CLIP-seq
MIRT758010	hsa-miR-30e	CLIP-seq
MIRT758011	hsa-miR-3152-3p	CLIP-seq
MIRT758012	hsa-miR-3153	CLIP-seq
MIRT758013	hsa-miR-3156-3p	CLIP-seq
MIRT758014	hsa-miR-3163	CLIP-seq
MIRT758015	hsa-miR-3180-5p	CLIP-seq
MIRT758016	hsa-miR-3192	CLIP-seq
MIRT758017	hsa-miR-3605-5p	CLIP-seq
MIRT758018	hsa-miR-3667-5p	CLIP-seq
MIRT758019	hsa-miR-3679-5p	CLIP-seq
MIRT758020	hsa-miR-376a	CLIP-seq
MIRT758021	hsa-miR-376b	CLIP-seq
MIRT758022	hsa-miR-383	CLIP-seq
MIRT758023	hsa-miR-3913-3p	CLIP-seq
MIRT758024	hsa-miR-3941	CLIP-seq
MIRT758025	hsa-miR-3976	CLIP-seq
MIRT758026	hsa-miR-411	CLIP-seq
MIRT758027	hsa-miR-4267	CLIP-seq
MIRT758028	hsa-miR-4289	CLIP-seq
MIRT758029	hsa-miR-4301	CLIP-seq
MIRT758030	hsa-miR-4314	CLIP-seq
MIRT758031	hsa-miR-4326	CLIP-seq
MIRT758032	hsa-miR-4420	CLIP-seq
MIRT758033	hsa-miR-4464	CLIP-seq
MIRT758034	hsa-miR-4477a	CLIP-seq
MIRT758035	hsa-miR-4477b	CLIP-seq
MIRT758036	hsa-miR-455-5p	CLIP-seq
MIRT758037	hsa-miR-4646-5p	CLIP-seq
MIRT758038	hsa-miR-4652-3p	CLIP-seq
MIRT758039	hsa-miR-466	CLIP-seq
MIRT758040	hsa-miR-4663	CLIP-seq
MIRT758041	hsa-miR-4666-5p	CLIP-seq
MIRT758042	hsa-miR-4668-5p	CLIP-seq
MIRT758043	hsa-miR-4672	CLIP-seq
MIRT758044	hsa-miR-4711-3p	CLIP-seq
MIRT758045	hsa-miR-4716-5p	CLIP-seq
MIRT758046	hsa-miR-4724-5p	CLIP-seq
MIRT758047	hsa-miR-4735-3p	CLIP-seq
MIRT758048	hsa-miR-4746-3p	CLIP-seq
MIRT758049	hsa-miR-4748	CLIP-seq
MIRT758050	hsa-miR-4765	CLIP-seq
MIRT758051	hsa-miR-4772-5p	CLIP-seq
MIRT758052	hsa-miR-489	CLIP-seq
MIRT758053	hsa-miR-499-5p	CLIP-seq
MIRT758054	hsa-miR-511	CLIP-seq
MIRT758055	hsa-miR-512-3p	CLIP-seq
MIRT758056	hsa-miR-550b	CLIP-seq
MIRT758057	hsa-miR-589	CLIP-seq
MIRT758058	hsa-miR-592	CLIP-seq
MIRT758059	hsa-miR-597	CLIP-seq
MIRT758060	hsa-miR-604	CLIP-seq
MIRT758061	hsa-miR-628-5p	CLIP-seq
MIRT758062	hsa-miR-630	CLIP-seq
MIRT758063	hsa-miR-647	CLIP-seq
MIRT758064	hsa-miR-656	CLIP-seq
MIRT758065	hsa-miR-659	CLIP-seq
MIRT758066	hsa-miR-944	CLIP-seq
MIRT757988	hsa-miR-1185	CLIP-seq
MIRT757992	hsa-miR-1260	CLIP-seq
MIRT757993	hsa-miR-1260b	CLIP-seq
MIRT1923577	hsa-miR-1273d	CLIP-seq
MIRT757994	hsa-miR-135a	CLIP-seq
MIRT757995	hsa-miR-135b	CLIP-seq
MIRT757996	hsa-miR-146a	CLIP-seq
MIRT757997	hsa-miR-146b-5p	CLIP-seq
MIRT757998	hsa-miR-153	CLIP-seq
MIRT757999	hsa-miR-188-3p	CLIP-seq
MIRT758002	hsa-miR-1914	CLIP-seq
MIRT758011	hsa-miR-3152-3p	CLIP-seq
MIRT758013	hsa-miR-3156-3p	CLIP-seq
MIRT758015	hsa-miR-3180-5p	CLIP-seq
MIRT758017	hsa-miR-3605-5p	CLIP-seq
MIRT758019	hsa-miR-3679-5p	CLIP-seq
MIRT1923578	hsa-miR-3943	CLIP-seq
MIRT758027	hsa-miR-4267	CLIP-seq
MIRT758028	hsa-miR-4289	CLIP-seq
MIRT758029	hsa-miR-4301	CLIP-seq
MIRT1923579	hsa-miR-4323	CLIP-seq
MIRT758031	hsa-miR-4326	CLIP-seq
MIRT758038	hsa-miR-4652-3p	CLIP-seq
MIRT758040	hsa-miR-4663	CLIP-seq
MIRT758044	hsa-miR-4711-3p	CLIP-seq
MIRT758048	hsa-miR-4746-3p	CLIP-seq
MIRT758050	hsa-miR-4765	CLIP-seq
MIRT758054	hsa-miR-511	CLIP-seq
MIRT758057	hsa-miR-589	CLIP-seq
MIRT758060	hsa-miR-604	CLIP-seq
MIRT758061	hsa-miR-628-5p	CLIP-seq
MIRT758062	hsa-miR-630	CLIP-seq
MIRT758063	hsa-miR-647	CLIP-seq
MIRT758065	hsa-miR-659	CLIP-seq
MIRT757988	hsa-miR-1185	CLIP-seq
MIRT757992	hsa-miR-1260	CLIP-seq
MIRT757993	hsa-miR-1260b	CLIP-seq
MIRT2165035	hsa-miR-1264	CLIP-seq
MIRT757994	hsa-miR-135a	CLIP-seq
MIRT757995	hsa-miR-135b	CLIP-seq
MIRT757996	hsa-miR-146a	CLIP-seq
MIRT757997	hsa-miR-146b-5p	CLIP-seq
MIRT2165036	hsa-miR-1470	CLIP-seq
MIRT757998	hsa-miR-153	CLIP-seq
MIRT2165037	hsa-miR-155	CLIP-seq
MIRT757999	hsa-miR-188-3p	CLIP-seq
MIRT2165038	hsa-miR-188-5p	CLIP-seq
MIRT758002	hsa-miR-1914	CLIP-seq
MIRT758006	hsa-miR-30a	CLIP-seq
MIRT758007	hsa-miR-30b	CLIP-seq
MIRT758008	hsa-miR-30c	CLIP-seq
MIRT758009	hsa-miR-30d	CLIP-seq
MIRT758010	hsa-miR-30e	CLIP-seq
MIRT758011	hsa-miR-3152-3p	CLIP-seq
MIRT758013	hsa-miR-3156-3p	CLIP-seq
MIRT758015	hsa-miR-3180-5p	CLIP-seq
MIRT2165039	hsa-miR-339-5p	CLIP-seq
MIRT758017	hsa-miR-3605-5p	CLIP-seq
MIRT758019	hsa-miR-3679-5p	CLIP-seq
MIRT2165040	hsa-miR-3691-3p	CLIP-seq
MIRT758024	hsa-miR-3941	CLIP-seq
MIRT1923578	hsa-miR-3943	CLIP-seq
MIRT758027	hsa-miR-4267	CLIP-seq
MIRT2165041	hsa-miR-4279	CLIP-seq
MIRT758028	hsa-miR-4289	CLIP-seq
MIRT758029	hsa-miR-4301	CLIP-seq
MIRT1923579	hsa-miR-4323	CLIP-seq
MIRT758031	hsa-miR-4326	CLIP-seq
MIRT758036	hsa-miR-455-5p	CLIP-seq
MIRT758038	hsa-miR-4652-3p	CLIP-seq
MIRT758039	hsa-miR-466	CLIP-seq
MIRT758040	hsa-miR-4663	CLIP-seq
MIRT758041	hsa-miR-4666-5p	CLIP-seq
MIRT2165042	hsa-miR-4667-3p	CLIP-seq
MIRT758043	hsa-miR-4672	CLIP-seq
MIRT758045	hsa-miR-4716-5p	CLIP-seq
MIRT758048	hsa-miR-4746-3p	CLIP-seq
MIRT758050	hsa-miR-4765	CLIP-seq
MIRT758055	hsa-miR-512-3p	CLIP-seq
MIRT758057	hsa-miR-589	CLIP-seq
MIRT758058	hsa-miR-592	CLIP-seq
MIRT758059	hsa-miR-597	CLIP-seq
MIRT758060	hsa-miR-604	CLIP-seq
MIRT758061	hsa-miR-628-5p	CLIP-seq
MIRT758063	hsa-miR-647	CLIP-seq
MIRT758065	hsa-miR-659	CLIP-seq
MIRT757988	hsa-miR-1185	CLIP-seq
MIRT758011	hsa-miR-3152-3p	CLIP-seq
MIRT758015	hsa-miR-3180-5p	CLIP-seq
MIRT2165039	hsa-miR-339-5p	CLIP-seq
MIRT758017	hsa-miR-3605-5p	CLIP-seq
MIRT2383738	hsa-miR-3657	CLIP-seq
MIRT758019	hsa-miR-3679-5p	CLIP-seq
MIRT758027	hsa-miR-4267	CLIP-seq
MIRT758028	hsa-miR-4289	CLIP-seq
MIRT758040	hsa-miR-4663	CLIP-seq
MIRT2383739	hsa-miR-4669	CLIP-seq
MIRT758045	hsa-miR-4716-5p	CLIP-seq
MIRT758048	hsa-miR-4746-3p	CLIP-seq
MIRT758061	hsa-miR-628-5p	CLIP-seq
MIRT758065	hsa-miR-659	CLIP-seq
MIRT757996	hsa-miR-146a	CLIP-seq
MIRT757997	hsa-miR-146b-5p	CLIP-seq
MIRT758013	hsa-miR-3156-3p	CLIP-seq
MIRT758026	hsa-miR-411	CLIP-seq
MIRT758029	hsa-miR-4301	CLIP-seq
MIRT758044	hsa-miR-4711-3p	CLIP-seq
MIRT758048	hsa-miR-4746-3p	CLIP-seq
MIRT758050	hsa-miR-4765	CLIP-seq
MIRT758054	hsa-miR-511	CLIP-seq
MIRT758057	hsa-miR-589	CLIP-seq
MIRT758026	hsa-miR-411	CLIP-seq
MIRT758044	hsa-miR-4711-3p	CLIP-seq
MIRT758054	hsa-miR-511	CLIP-seq
MIRT757988	hsa-miR-1185	CLIP-seq
MIRT2467005	hsa-miR-1208	CLIP-seq
MIRT757996	hsa-miR-146a	CLIP-seq
MIRT757997	hsa-miR-146b-5p	CLIP-seq
MIRT758002	hsa-miR-1914	CLIP-seq
MIRT758013	hsa-miR-3156-3p	CLIP-seq
MIRT758015	hsa-miR-3180-5p	CLIP-seq
MIRT758017	hsa-miR-3605-5p	CLIP-seq
MIRT758019	hsa-miR-3679-5p	CLIP-seq
MIRT758023	hsa-miR-3913-3p	CLIP-seq
MIRT758026	hsa-miR-411	CLIP-seq
MIRT758027	hsa-miR-4267	CLIP-seq
MIRT758029	hsa-miR-4301	CLIP-seq
MIRT758031	hsa-miR-4326	CLIP-seq
MIRT758038	hsa-miR-4652-3p	CLIP-seq
MIRT758044	hsa-miR-4711-3p	CLIP-seq
MIRT758045	hsa-miR-4716-5p	CLIP-seq
MIRT758048	hsa-miR-4746-3p	CLIP-seq
MIRT758050	hsa-miR-4765	CLIP-seq
MIRT758052	hsa-miR-489	CLIP-seq
MIRT758054	hsa-miR-511	CLIP-seq
MIRT758057	hsa-miR-589	CLIP-seq
MIRT758065	hsa-miR-659	CLIP-seq
MIRT2674021	hsa-miR-105	CLIP-seq
MIRT757988	hsa-miR-1185	CLIP-seq
MIRT2467005	hsa-miR-1208	CLIP-seq
MIRT2674022	hsa-miR-137	CLIP-seq
MIRT757996	hsa-miR-146a	CLIP-seq
MIRT757997	hsa-miR-146b-5p	CLIP-seq
MIRT758002	hsa-miR-1914	CLIP-seq
MIRT2674023	hsa-miR-25	CLIP-seq
MIRT758011	hsa-miR-3152-3p	CLIP-seq
MIRT758015	hsa-miR-3180-5p	CLIP-seq
MIRT2674024	hsa-miR-32	CLIP-seq
MIRT758017	hsa-miR-3605-5p	CLIP-seq
MIRT2674025	hsa-miR-363	CLIP-seq
MIRT2674026	hsa-miR-367	CLIP-seq
MIRT2674027	hsa-miR-3671	CLIP-seq
MIRT758019	hsa-miR-3679-5p	CLIP-seq
MIRT758023	hsa-miR-3913-3p	CLIP-seq
MIRT758027	hsa-miR-4267	CLIP-seq
MIRT758031	hsa-miR-4326	CLIP-seq
MIRT758038	hsa-miR-4652-3p	CLIP-seq
MIRT758044	hsa-miR-4711-3p	CLIP-seq
MIRT758045	hsa-miR-4716-5p	CLIP-seq
MIRT758048	hsa-miR-4746-3p	CLIP-seq
MIRT758050	hsa-miR-4765	CLIP-seq
MIRT758052	hsa-miR-489	CLIP-seq
MIRT758054	hsa-miR-511	CLIP-seq
MIRT2674028	hsa-miR-586	CLIP-seq
MIRT758057	hsa-miR-589	CLIP-seq
MIRT2674029	hsa-miR-607	CLIP-seq
MIRT758065	hsa-miR-659	CLIP-seq
MIRT2674030	hsa-miR-92a	CLIP-seq
MIRT2674031	hsa-miR-92b	CLIP-seq
MIRT758066	hsa-miR-944	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence
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
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA

MIM	HGNC	e!Ensembl
612507	39	ENSG00000154258

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
TLCLLSPFAFTVGMAQLIHLDYDVNSNAHLDSSQNPYLIIATLFMLVFDTLLYLVLTLYF
DKILPAEYGHRCSPLFFLKSCFWFQHGRANHVVLENETDSDPTPNDCFEPVSPEFCGKEA
IRIKNLKKEYAGKCERVEALKGVVFDIYEGQITALLGHSGAGKTTLLNILSGLSVPTSGS
VTVYNHTLSRMADIENISKFTGFCPQSNVQFGFLTVKENLRLFAKIKGILPHEVEKEVQR
VVQELEMENIQDILAQNLSGGQNRKLTFGIAILGDPQVLLLDEPTAGLDPLSRHRIWNLL
KEGKSDRVILFSTQFIDEADILADRKVFISNGKLKCAGSSLFLKKKWGIGYHLSLHLNER
CDPESITSLVKQHISDAKLTAQSEEKLVYILPLERTNKFPELYRDLDRCSNQGIEDYGVS
ITTLNEVFLKLEGKSTIDESDIGIWGQLQTDGAKDIGSLVELEQVLSSFHETRKTISGVA
LWRQQVCAIAKVRFLKLKKERKSLWTILLLFGISFIPQLLEHLFYESYQKSYPWELSPNT
YFLSPGQQPQDPLTHLLVINKTGSTIDNFLHSLRRQNIAIEVDAFGTRNGTDDPSYNGAI
IVSGDEKDHRFSIACNTKRLNCFPVLLDVISNGLLGIFNSSEHIQTDRSTFFEEHMDYEY
GYRSNTFFWIPMAASFTPYIAMSSIGDYKKKAHSQLRISGLYPSAYWFGQALVDVSLYFL
ILLLMQIMDYIFSPEEIIFIIQNLLIQILCSIGYVSSLVFLTYVISFIFRNGRKNSGIWS
FFFLIVVIFSIVATDLNEYGFLGLFFGTMLIPPFTLIGSLFIFSEISPDSMDYLGASESE
IVYLALLIPYLHFLIFLFILRCLEMNCRKKLMRKDPVFRISPRSNAIFPNPEEPEGEEED
IQMERMRTVNAMAVRDFDETPVIIASCLRKEYAGKKKNCFSKRKKKIATRNVSFCVKKGE
VIGLLGHNGAGKSTTIKMITGDTKPTAGQVILKGSGGGEPLGFLGYCPQENALWPNLTVR
QHLEVYAAVKGLRKGDAMIAITRLVDALKLQDQLKAPVKTLSEGIKRKLCFVLSILGNPS
VVLLDEPSTGMDPEGQQQMWQVIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLR
CIGSIQHLKSKFGKDYLLEMKLKNLAQMEPLHAEILRLFPQAAQQERFSSLMVYKLPVED
VRPLSQAFFKLEIVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDLEEDFDPSVKWKLLL
QEEP

Sequence length

1624

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24957074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	24957074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24957074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	18936737	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31081967		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCA9 (ATP binding cassette subfamily A member 9)