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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	10347
Gene name	ATP binding cassette subfamily A member 7
Gene symbol	ABCA7
Synonyms (NCBI Gene)	ABCA-SSNABCXAD9
Chromosome	19
Chromosome location	19p13.3
Summary	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs115536223	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, synonymous variant, non coding transcript variant, 3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs189260652	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201060968	G>A	Risk-factor, likely-benign, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant
rs538591288	T>-	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, non coding transcript variant
rs547447016	AGCAGGG>-	Conflicting-interpretations-of-pathogenicity, risk-factor	Coding sequence variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017401	hsa-miR-335-5p	Microarray	18185580

Show/Hide all (74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001891	Component	Phagocytic cup	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	IEA
GO:0005548	Function	Phospholipid transporter activity	IGI	28373057
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	14570867, 28373057
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007613	Process	Memory	ISS
GO:0008542	Process	Visual learning	ISS
GO:0009986	Component	Cell surface	ISS
GO:0010875	Process	Positive regulation of cholesterol efflux	ISS
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019216	Process	Regulation of lipid metabolic process	ISS
GO:0030054	Component	Cell junction	IDA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IDA	14570867
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033700	Process	Phospholipid efflux	IBA
GO:0033700	Process	Phospholipid efflux	IDA	14570867
GO:0033700	Process	Phospholipid efflux	IEA
GO:0033700	Process	Phospholipid efflux	IGI	28373057
GO:0034188	Function	Apolipoprotein A-I receptor activity	IBA
GO:0034188	Function	Apolipoprotein A-I receptor activity	IDA	14570867
GO:0034188	Function	Apolipoprotein A-I receptor activity	IEA
GO:0034205	Process	Amyloid-beta formation	IEA
GO:0034205	Process	Amyloid-beta formation	IMP	26260791
GO:0034380	Process	High-density lipoprotein particle assembly	IDA	14570867
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0038027	Process	Apolipoprotein A-I-mediated signaling pathway	IDA	14570867
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042985	Process	Negative regulation of amyloid precursor protein biosynthetic process	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0044857	Process	Plasma membrane raft organization	ISS
GO:0045332	Process	Phospholipid translocation	IDA	24097981
GO:0045806	Process	Negative regulation of endocytosis	ISS
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0090554	Function	Phosphatidylcholine floppase activity	IBA
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	24097981
GO:0090554	Function	Phosphatidylcholine floppase activity	IEA
GO:0090556	Function	Phosphatidylserine floppase activity	IBA
GO:0090556	Function	Phosphatidylserine floppase activity	IDA	24097981
GO:0090556	Function	Phosphatidylserine floppase activity	IEA
GO:0097386	Component	Glial cell projection	ISS
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140328	Function	Floppase activity	IDA	24097981
GO:0140328	Function	Floppase activity	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	ISS
GO:1900223	Process	Positive regulation of amyloid-beta clearance	ISS
GO:1901076	Process	Positive regulation of engulfment of apoptotic cell	ISS
GO:1902430	Process	Negative regulation of amyloid-beta formation	ISS
GO:1902991	Process	Regulation of amyloid precursor protein catabolic process	IEA
GO:1902991	Process	Regulation of amyloid precursor protein catabolic process	IMP	26260791
GO:1902995	Process	Positive regulation of phospholipid efflux	ISS
GO:1903898	Process	Negative regulation of PERK-mediated unfolded protein response	ISS
GO:2000010	Process	Positive regulation of protein localization to cell surface	ISS

MIM	HGNC	e!Ensembl
605414	37	ENSG00000064687

Q8IZY2

Protein name

Phospholipid-transporting ATPase ABCA7 (EC 7.6.2.1) (ABCA-SSN) (ATP-binding cassette sub-family A member 7) (Autoantigen SS-N) (Macrophage ABC transporter)

Protein function

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine

PDB

8EDW , 8EE6 , 8EEB , 8EOP , 8Y1O , 8Y1P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	530 → 750		Family
PF00005	ABC_tran	824 → 968	ABC transporter	Domain
PF12698	ABC2_membrane_3	1433 → 1750		Family
PF00005	ABC_tran	1810 → 1954	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in leukocytes (at protein level) (PubMed:10873640). Widely expressed (PubMed:10873640). Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow (PubMed:10873640, PubMed:1143

Sequence

MAFWTQLMLLLWKNFMYRRRQPVQLLVELLWPLFLFFILVAVRHSHPPLEHHECHFPNKP
LPSAGTVPWLQGLICNVNNTCFPQLTPGEEPGRLSNFNDSLVSRLLADARTVLGGASAHR
TLAGLGKLIATLRAARSTAQPQPTKQSPLEPPMLDVAELLTSLLRTESLGLALGQAQEPL
HSLLEAAEDLAQELLALRSLVELRALLQRPRGTSGPLELLSEALCSVRGPSSTVGPSLNW
YEASDLMELVGQEPESALPDSSLSPACSELIGALDSHPLSRLLWRRLKPLILGKLLFAPD
TPFTRKLMAQVNRTFEELTLLRDVREVWEMLGPRIFTFMNDSSNVAMLQRLLQMQDEGRR
QPRPGGRDHMEALRSFLDPGSGGYSWQDAHADVGHLVGTLGRVTECLSLDKLEAAPSEAA
LVSRALQLLAEHRFWAGVVFLGPEDSSDPTEHPTPDLGPGHVRIKIRMDIDVVTRTNKIR
DRFWDPGPAADPLTDLRYVWGGFVYLQDLVERAAVRVLSGANPRAGLYLQQMPYPCYVDD
VFLRVLSRSLPLFLTLAWIYSVTLTVKAVVREKETRLRDTMRAMGLSRAVLWLGWFLSCL
GPFLLSAALLVLVLKLGDILPYSHPGVVFLFLAAFAVATVTQSFLLSAFFSRANLAAACG
GLAYFSLYLPYVLCVAWRDRLPAGGRVAASLLSPVAFGFGCESLALLEEQGEGAQWHNVG
TRPTADVFSLAQVSGLLLLDAALYGLATWYLEAVCPGQYGIPEPWNFPFRRSYWCGPRPP
KSPAPCPTPLDPKVLVEEAPPGLSPGVSVRSLEKRFPGSPQPALRGLSLDFYQGHITAFL
GHNGAGKTTTLSILSGLFPPSGGSAFILGHDVRSSMAAIRPHLGVCPQYNVLFDMLTVDE
HVWFYGRLKGLSAAVVGPEQDRLLQDVGLVSKQSVQTRHLSGGMQRKLSVAIAFVGGSQV
VILDEPTAGVDPASRRGIWELLLKYREGRTLILSTHHLDEAELLGDRVAVVAGGRLCCCG
SPLFLRRHLGSGYYLTLVKARLPLTTNEKADTDMEGSVDTRQEKKNGSQGSRVGTPQLLA
LVQHWVPGARLVEELPHELVLVLPYTGAHDGSFATLFRELDTRLAELRLTGYGISDTSLE
EIFLKVVEECAADTDMEDGSCGQHLCTGIAGLDVTLRLKMPPQETALENGEPAGSAPETD
QGSGPDAVGRVQGWALTRQQLQALLLKRFLLARRSRRGLFAQIVLPALFVGLALVFSLIV
PPFGHYPALRLSPTMYGAQVSFFSEDAPGDPGRARLLEALLQEAGLEEPPVQHSSHRFSA
PEVPAEVAKVLASGNWTPESPSPACQCSRPGARRLLPDCPAAAGGPPPPQAVTGSGEVVQ
NLTGRNLSDFLVKTYPRLVRQGLKTKKWVNEVRYGGFSLGGRDPGLPSGQELGRSVEELW
ALLSPLPGGALDRVLKNLTAWAHSLDAQDSLKIWFNNKGWHSMVAFVNRASNAILRAHLP
PGPARHAHSITTLNHPLNLTKEQLSEGALMASSVDVLVSICVVFAMSFVPASFTLVLIEE
RVTRAKHLQLMGGLSPTLYWLGNFLWDMCNYLVPACIVVLIFLAFQQRAYVAPANLPALL
LLLLLYGWSITPLMYPASFFFSVPSTAYVVLTCINLFIGINGSMATFVLELFSDQKLQEV
SRILKQVFLIFPHFCLGRGLIDMVRNQAMADAFERLGDRQFQSPLRWEVVGKNLLAMVIQ
GPLFLLFTLLLQHRSQLLPQPRVRSLPLLGEEDEDVARERERVVQGATQGDVLVLRNLTK
VYRGQRMPAVDRLCLGIPPGECFGLLGVNGAGKTSTFRMVTGDTLASRGEAVLAGHSVAR
EPSAAHLSMGYCPQSDAIFELLTGREHLELLARLRGVPEAQVAQTAGSGLARLGLSWYAD
RPAGTYSGGNKRKLATALALVGDPAVVFLDEPTTGMDPSARRFLWNSLLAVVREGRSVML
TSHSMEECEALCSRLAIMVNGRFRCLGSPQHLKGRFAAGHTLTLRVPAARSQPAAAFVAA
EFPGAELREAHGGRLRFQLPPGGRCALARVFGELAVHGAEHGVEDFSVSQTMLEEVFLYF
SKDQGKDEDTEEQKEAGVGVDPAPGLQHPKRVSQFLDDPSTAETVL

Sequence length

2146

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCA7-related disorder	Likely pathogenic; Pathogenic	rs2041967070, rs1302770627, rs2512353998, rs765531464, rs769207938	RCV003416716 RCV003412008 RCV003402755 RCV003399840 RCV003893740
Alzheimer disease 9	Likely pathogenic	rs780510608, rs770510230	RCV003991794 RCV005410921

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs200538373	RCV005901406
Amyotrophic lateral sclerosis	Uncertain significance	rs201665195	RCV002508989
Cervical cancer	Conflicting classifications of pathogenicity	rs200538373	RCV005901407
Cholangiocarcinoma	Uncertain significance	rs113809142	RCV005929506
Flexion contracture	Uncertain significance; Likely benign	rs141322593, rs769101205, rs761891139	RCV001007830 RCV001007831 RCV001007788
Gastric cancer	Likely benign	rs200288020	RCV005933159
Hepatocellular carcinoma	Benign	rs2279796	RCV005924756
Lung cancer	Conflicting classifications of pathogenicity	rs200538373	RCV005901409
Malignant lymphoma, large B-cell, diffuse	Benign	rs3752240	RCV005919866
Neuromuscular disease	Conflicting classifications of pathogenicity	rs567222111	RCV004797625
Primary degenerative dementia of the Alzheimer type, presenile onset	Conflicting classifications of pathogenicity; risk factor	rs547447016	RCV001090097
Sarcoma	Conflicting classifications of pathogenicity	rs200538373	RCV005901408

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	29340569
AA amyloidosis	Inhibit	36362122
Alzheimer Disease	Associate	22445811, 23226438, 23360175, 23419238, 23669301, 23836404, 23954108, 24141082, 24743338, 25129075, 25189118, 25365775, 25706306, 26004081, 26092349 View all (50 more)
Alzheimer Disease	Inhibit	36982820
Alzheimer Disease	Stimulate	40708016
Alzheimer Disease Familial 3 with Spastic Paraparesis and Apraxia	Associate	37212111
Amyotrophic Lateral Sclerosis	Associate	25174650, 31405128
Arthrogryposis	Associate	31230720
Atrophy	Associate	24670887, 26993346
Autistic Disorder	Associate	24360806
Breast Neoplasms	Associate	37296582
Cognition Disorders	Stimulate	23226438
Cognition Disorders	Associate	34214049
Cognitive Dysfunction	Associate	25189118
Dementia	Associate	23226438, 29750252, 31836585, 37330543
Dementia	Inhibit	36982820
Disease	Associate	24438528
Down Syndrome	Associate	24438528
Drug Hypersensitivity	Associate	32603359
Frontotemporal Dementia	Associate	31405128, 32941707, 34561610
Glioma	Associate	35862252
Inflammation	Associate	37681876, 37946268
Lewy Body Disease	Associate	31405128
Liver Neoplasms	Associate	32941707
Macular Degeneration	Associate	24439028
Memory Disorders	Associate	27037232, 31831047
Neoplasms	Associate	29064820
Neurodegenerative Diseases	Associate	31405128, 35752680, 36362122
Neurologic Manifestations	Associate	37212111
Parkinson Disease	Associate	31405128, 36593912, 36982820
Plaque Amyloid	Associate	23836404, 29340569
Plaque Amyloid	Inhibit	31831047
Pulmonary Disease Chronic Obstructive	Associate	30765504
Sjogren's Syndrome	Associate	15593299
Tangier Disease	Inhibit	24097981

ABCA7 (ATP binding cassette subfamily A member 7)