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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	23460
Gene name	ATP binding cassette subfamily A member 6
Gene symbol	ABCA6
Synonyms (NCBI Gene)	EST155051
Chromosome	17
Chromosome location	17q24.2-q24.3
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

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029708	hsa-miR-26b-5p	Microarray	19088304
MIRT648873	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT648872	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT648871	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT648870	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT648869	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT648868	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT648867	hsa-miR-3135b	HITS-CLIP	23824327
MIRT648866	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT648865	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT648864	hsa-miR-3652	HITS-CLIP	23824327
MIRT648863	hsa-miR-4430	HITS-CLIP	23824327
MIRT648862	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT648860	hsa-miR-585-5p	HITS-CLIP	23824327
MIRT648861	hsa-miR-96-5p	HITS-CLIP	23824327
MIRT518550	hsa-miR-6514-5p	PAR-CLIP	23446348
MIRT518551	hsa-miR-1279	PAR-CLIP	23446348
MIRT518549	hsa-miR-4534	PAR-CLIP	23446348
MIRT518548	hsa-miR-8082	PAR-CLIP	23446348
MIRT518547	hsa-miR-4653-3p	PAR-CLIP	23446348
MIRT518546	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT518545	hsa-miR-548s	PAR-CLIP	23446348
MIRT518544	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT518543	hsa-miR-588	PAR-CLIP	23446348
MIRT518542	hsa-miR-4435	PAR-CLIP	23446348
MIRT518541	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT518539	hsa-miR-5096	PAR-CLIP	23446348
MIRT518540	hsa-miR-3157-5p	PAR-CLIP	23446348
MIRT648873	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT648872	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT648871	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT648870	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT648869	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT648868	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT648867	hsa-miR-3135b	HITS-CLIP	23824327
MIRT648866	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT648865	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT648864	hsa-miR-3652	HITS-CLIP	23824327
MIRT648863	hsa-miR-4430	HITS-CLIP	23824327
MIRT648862	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT648860	hsa-miR-585-5p	HITS-CLIP	23824327
MIRT648861	hsa-miR-96-5p	HITS-CLIP	23824327
MIRT518550	hsa-miR-6514-5p	PAR-CLIP	23446348
MIRT518551	hsa-miR-1279	PAR-CLIP	23446348
MIRT518549	hsa-miR-4534	PAR-CLIP	23446348
MIRT518548	hsa-miR-8082	PAR-CLIP	23446348
MIRT518547	hsa-miR-4653-3p	PAR-CLIP	23446348
MIRT518546	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT518545	hsa-miR-548s	PAR-CLIP	23446348
MIRT518544	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT518543	hsa-miR-588	PAR-CLIP	23446348
MIRT518542	hsa-miR-4435	PAR-CLIP	23446348
MIRT518541	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT518539	hsa-miR-5096	PAR-CLIP	23446348
MIRT518540	hsa-miR-3157-5p	PAR-CLIP	23446348
MIRT757979	hsa-miR-3125	CLIP-seq
MIRT757980	hsa-miR-3916	CLIP-seq
MIRT757981	hsa-miR-4307	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	24028821
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005319	Function	Lipid transporter activity	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	23137377
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
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
612504	36	ENSG00000154262

Q8N139

Protein name

ATP-binding cassette sub-family A member 6 (EC 7.6.2.-)

Protein function

Probable transporter which may play a role in macrophage lipid transport and homeostasis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	28 → 416		Family
PF00005	ABC_tran	497 → 643	ABC transporter	Domain
PF12698	ABC2_membrane_3	852 → 1214		Family
PF00005	ABC_tran	1303 → 1441	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with higher expression in liver. {ECO:0000269|PubMed:11478798, ECO:0000269|Ref.2}.

Sequence

MNMKQKSVYQQTKALLCKNFLKKWRMKRESLLEWGLSILLGLCIALFSSSMRNVQFPGMA
PQNLGRVDKFNSSSLMVVYTPISNLTQQIMNKTALAPLLKGTSVIGAPNKTHMDEILLEN
LPYAMGIIFNETFSYKLIFFQGYNSPLWKEDFSAHCWDGYGEFSCTLTKYWNRGFVALQT
AINTAIIEITTNHPVMEELMSVTAITMKTLPFITKNLLHNEMFILFFLLHFSPLVYFISL
NVTKERKKSKNLMKMMGLQDSAFWLSWGLIYAGFIFIISIFVTIIITFTQIIVMTGFMVI
FILFFLYGLSLVALVFLMSVLLKKAVLTNLVVFLLTLFWGCLGFTVFYEQLPSSLEWILN
ICSPFAFTTGMIQIIKLDYNLNGVIFPDPSGDSYTMIATFSMLLLDGLIYLLLALYFDKI
LPYGDERHYSPLFFLNSSSCFQHQRTNAKVIEKEIDAEHPSDDYFEPVAPEFQGKEAIRI
RNVKKEYKGKSGKVEALKGLLFDIYEGQITAILGHSGAGKSSLLNILNGLSVPTEGSVTI
YNKNLSEMQDLEEIRKITGVCPQFNVQFDILTVKENLSLFAKIKGIHLKEVEQEVQRILL
ELDMQNIQDNLAKHLSEGQKRKLTFGITILGDPQILLLDEPTTGLDPFSRDQVWSLLRER
RADHVILFSTQSMDEADILADRKVIMSNGRLKCAGSSMFLKRRWGLGYHLSLHRNEICNP
EQITSFITHHIPDAKLKTENKEKLVYTLPLERTNTFPDLFSDLDKCSDQGVTGYDISMST
LNEVFMKLEGQSTIEQDFEQVEMIRDSESLNEMELAHSSFSEMQTAVSDMGLWRMQVFAM
ARLRFLKLKRQTKVLLTLLLVFGIAIFPLIVENIMYAMLNEKIDWEFKNELYFLSPGQLP
QEPRTSLLIINNTESNIEDFIKSLKHQNILLEVDDFENRNGTDGLSYNGAIIVSGKQKDY
RFSVVCNTKRLHCFPILMNIISNGLLQMFNHTQHIRIESSPFPLSHIGLWTGLPDGSFFL
FLVLCSISPYITMGSISDYKKNAKSQLWISGLYTSAYWCGQALVDVSFFILILLLMYLIF
YIENMQYLLITSQIVFALVIVTPGYAASLVFFIYMISFIFRKRRKNSGLWSFYFFFASTI
MFSITLINHFDLSILITTMVLVPSYTLLGFKTFLEVRDQEHYREFPEANFELSATDFLVC
FIPYFQTLLFVFVLRCMELKCGKKRMRKDPVFRISPQSRDAKPNPEEPIDEDEDIQTERI
RTATALTTSILDEKPVIIASCLHKEYAGQKKSCFSKRKKKIAARNISFCVQEGEILGLLG
PNGAGKSSSIRMISGITKPTAGEVELKGCSSVLGHLGYCPQENVLWPMLTLREHLEVYAA
VKGLRKADARLAIARLVSAFKLHEQLNVPVQKLTAGITRKLCFVLSLLGNSPVLLLDEPS
TGIDPTGQQQMWQAIQAVVKNTERGVLLTTHNLAEAEALCDRVAIMVSGRLRCIGSIQHL
KNKLGKDYILELKVKETSQVTLVHTEILKLFPQAAGQERYSSLLTYKLPVADVYPLSQTF
HKLEAVKHNFNLEEYSLSQCTLEKVFLELSKEQEVGNFDEEIDTTMRWKLLPHSDEP

Sequence length

1617

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 (7)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31510946	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	17374397		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	34859601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	31246245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36595475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	25294155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12970790		★★★★★ ★☆☆☆☆ 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
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32299435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCA6 (ATP binding cassette subfamily A member 6)