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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	23461
Gene name	ATP binding cassette subfamily A member 5
Gene symbol	ABCA5
Synonyms (NCBI Gene)	ABC13DEL17q24EST90625HTC3HTGH
Chromosome	17
Chromosome location	17q24.3
Summary	The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct s

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SNP ID	Visualize variation	Clinical significance	Consequence
rs199753304	C>A,G,T	Pathogenic	Splice donor variant

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017298	hsa-miR-335-5p	Microarray	18185580
MIRT757931	hsa-let-7a	CLIP-seq
MIRT757932	hsa-let-7b	CLIP-seq
MIRT757933	hsa-let-7c	CLIP-seq
MIRT757934	hsa-let-7d	CLIP-seq
MIRT757935	hsa-let-7e	CLIP-seq
MIRT757936	hsa-let-7f	CLIP-seq
MIRT757937	hsa-let-7g	CLIP-seq
MIRT757938	hsa-let-7i	CLIP-seq
MIRT757939	hsa-miR-186	CLIP-seq
MIRT757940	hsa-miR-202	CLIP-seq
MIRT757941	hsa-miR-2052	CLIP-seq
MIRT757942	hsa-miR-2117	CLIP-seq
MIRT757943	hsa-miR-365	CLIP-seq
MIRT757944	hsa-miR-376c	CLIP-seq
MIRT757945	hsa-miR-4252	CLIP-seq
MIRT757946	hsa-miR-4458	CLIP-seq
MIRT757947	hsa-miR-4496	CLIP-seq
MIRT757948	hsa-miR-4500	CLIP-seq
MIRT757949	hsa-miR-4528	CLIP-seq
MIRT757950	hsa-miR-4659a-3p	CLIP-seq
MIRT757951	hsa-miR-4659b-3p	CLIP-seq
MIRT757952	hsa-miR-4766-5p	CLIP-seq
MIRT757953	hsa-miR-4768-5p	CLIP-seq
MIRT757954	hsa-miR-4775	CLIP-seq
MIRT757955	hsa-miR-488	CLIP-seq
MIRT757956	hsa-miR-515-5p	CLIP-seq
MIRT757957	hsa-miR-561	CLIP-seq
MIRT757958	hsa-miR-590-3p	CLIP-seq
MIRT757959	hsa-miR-651	CLIP-seq
MIRT757960	hsa-miR-98	CLIP-seq
MIRT757961	hsa-miR-1237	CLIP-seq
MIRT757962	hsa-miR-1248	CLIP-seq
MIRT757941	hsa-miR-2052	CLIP-seq
MIRT757963	hsa-miR-30a	CLIP-seq
MIRT757964	hsa-miR-30b	CLIP-seq
MIRT757965	hsa-miR-30c	CLIP-seq
MIRT757966	hsa-miR-30d	CLIP-seq
MIRT757967	hsa-miR-30e	CLIP-seq
MIRT757968	hsa-miR-3119	CLIP-seq
MIRT757969	hsa-miR-3182	CLIP-seq
MIRT757970	hsa-miR-3680	CLIP-seq
MIRT757944	hsa-miR-376c	CLIP-seq
MIRT757971	hsa-miR-3973	CLIP-seq
MIRT757972	hsa-miR-4716-5p	CLIP-seq
MIRT757973	hsa-miR-4796-3p	CLIP-seq
MIRT757974	hsa-miR-4797-3p	CLIP-seq
MIRT757975	hsa-miR-500a	CLIP-seq
MIRT757976	hsa-miR-520g	CLIP-seq
MIRT757977	hsa-miR-520h	CLIP-seq
MIRT757957	hsa-miR-561	CLIP-seq
MIRT757978	hsa-miR-616	CLIP-seq
MIRT1923560	hsa-miR-200b	CLIP-seq
MIRT1923561	hsa-miR-200c	CLIP-seq
MIRT1923562	hsa-miR-208a	CLIP-seq
MIRT1923563	hsa-miR-208b	CLIP-seq
MIRT1923564	hsa-miR-3617	CLIP-seq
MIRT1923565	hsa-miR-3658	CLIP-seq
MIRT1923566	hsa-miR-369-3p	CLIP-seq
MIRT1923567	hsa-miR-374a	CLIP-seq
MIRT1923568	hsa-miR-374b	CLIP-seq
MIRT1923569	hsa-miR-374c	CLIP-seq
MIRT1923570	hsa-miR-429	CLIP-seq
MIRT1923571	hsa-miR-4670-3p	CLIP-seq
MIRT1923572	hsa-miR-499-5p	CLIP-seq
MIRT757958	hsa-miR-590-3p	CLIP-seq
MIRT1923573	hsa-miR-641	CLIP-seq
MIRT1923574	hsa-miR-655	CLIP-seq
MIRT2383737	hsa-miR-4282	CLIP-seq
MIRT2442904	hsa-miR-3148	CLIP-seq
MIRT2383737	hsa-miR-4282	CLIP-seq
MIRT2442905	hsa-miR-4699-3p	CLIP-seq
MIRT2442906	hsa-miR-507	CLIP-seq
MIRT2442907	hsa-miR-557	CLIP-seq
MIRT2442908	hsa-miR-767-5p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005319	Function	Lipid transporter activity	IBA
GO:0005319	Function	Lipid transporter activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS	15870284
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS	15870284
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0006869	Process	Lipid transport	TAS
GO:0008203	Process	Cholesterol metabolic process	IMP	25125465
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	ISS	20382126
GO:0010874	Process	Regulation of cholesterol efflux	IEA
GO:0010874	Process	Regulation of cholesterol efflux	IMP	25125465
GO:0010874	Process	Regulation of cholesterol efflux	ISS
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	ISS	20382126
GO:0034375	Process	High-density lipoprotein particle remodeling	IEA
GO:0034375	Process	High-density lipoprotein particle remodeling	ISS	20382126
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042632	Process	Cholesterol homeostasis	IMP	25125465
GO:0043691	Process	Reverse cholesterol transport	IC	20382126
GO:0043691	Process	Reverse cholesterol transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1903064	Process	Positive regulation of reverse cholesterol transport	IEA
GO:1903064	Process	Positive regulation of reverse cholesterol transport	ISS

MIM	HGNC	e!Ensembl
612503	35	ENSG00000154265

Q8WWZ7

Protein name

Cholesterol transporter ABCA5 (EC 7.6.2.-) (ATP-binding cassette sub-family A member 5)

Protein function

Cholesterol efflux transporter in macrophages that is responsible for APOAI/high-density lipoproteins (HDL) formation at the plasma membrane under high cholesterol levels and participates in reverse cholesterol transport (PubMed:25125465). May p

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	29 → 416		Family
PF00005	ABC_tran	497 → 643	ABC transporter	Domain
PF12698	ABC2_membrane_3	850 → 1226		Family
PF00005	ABC_tran	1316 → 1461	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. Expressed in both the epithelial and mesenchymal compartments, present within the outer root sheath (ORS) of the hair follicle as well as

Sequence

MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEE
VPNIELNPMDKFTLSNLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSL
SKPSNFVGVVFKDSMSYELRFFPDMIPVSSIYMDSRAGCSKSCEAAQYWSSGFTVLQASI
DAAIIQLKTNVSLWKELESTKAVIMGETAVVEIDTFPRGVILIYLVIAFSPFGYFLAIHI
VAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLLMAVIATASLLFPQSSSIVIF
LLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIESFPKSLVWLFS
PFCHCTFVIGIAQVMHLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQV
IPGEFGLRRSSLYFLKPSYWSKSKRNYEELSEGNVNGNISFSEIIEPVSSEFVGKEAIRI
SGIQKTYRKKGENVEALRNLSFDIYEGQITALLGHSGTGKSTLMNILCGLCPPSDGFASI
YGHRVSEIDEMFEARKMIGICPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLL
DLDMQTIKDNQAKKLSGGQKRKLSLGIAVLGNPKILLLDEPTAGMDPCSRHIVWNLLKYR
KANRVTVFSTHFMDEADILADRKAVISQGMLKCVGSSMFLKSKWGIGYRLSMYIDKYCAT
ESLSSLVKQHIPGATLLQQNDQQLVYSLPFKDMDKFSGLFSALDSHSNLGVISYGVSMTT
LEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLILSETKAALVSTMSLW
KQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLY
FLKPGDKPHKYKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVM
HSEKDYVFAAVFNSTMVYSLPILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIE
LYFQAALLGIIVTAMPPYFAMENAENHKIKAYTQLKLSGLLPSAYWIGQAVVDIPLFFII
LILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFTYIASFTFKKILNTKEFWSFI
YSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKISWKNVRKNVDT
YNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPD
NEDEDEDVKAERLKVKELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYIS
FCVKKGEILGLLGPNGAGKSTIINILVGDIEPTSGQVFLGDYSSETSEDDDSLKCMGYCP
QINPLWPDTTLQEHFEIYGAVKGMSASDMKEVISRITHALDLKEHLQKTVKKLPAGIKRK
LCFALSMLGNPQITLLDEPSTGMDPKAKQHMWRAIRTAFKNRKRAAILTTHYMEEAEAVC
DRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIENLEVDRLQREIQYIFPNASRQ
ESFSSILAYKIPKEDVQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFVELTKEQEEED
NSCGTLNSTLWWERTQEDRVVF

Sequence length

1642

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gingival fibromatosis-hypertrichosis syndrome	Likely pathogenic	rs747667004, rs767829190, rs372523620	RCV003156049 RCV003990935 RCV003989393	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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.
ABCA5-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VENTRICULAR TACHYCARDIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GINGIVAL FIBROMATOSIS AND HYPERTRICHOSIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

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
Colonic Neoplasms	Colonic Neoplasms	BEFREE	17541169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17541169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17541169	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
Exophthalmos	Proptosis	BEFREE	15870284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival fibromatosis-hypertrichosis syndrome	Gingival Fibromatosis-Hypertrichosis Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis Terminalis Generalized with or without Gingival Hyperplasia	Hypertrichosis	Pubtator	24831815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia	Hypertrichosis	ORPHANET_DG	24831815		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia	Hypertrichosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia	Hypertrichosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21159167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17541169, 24957074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22870217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17541169, 24957074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23939407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23939407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	LHGDN	17289887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31164008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma of ovary	Undifferentiated ovarian carcinoma	BEFREE	17541169		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCA5 (ATP binding cassette subfamily A member 5)