ABCA6 (ATP binding cassette subfamily A member 6)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23460
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily A member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCA6
Synonyms (NCBI Gene) Gene synonyms aliases
EST155051
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.2-q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
612504 36 ENSG00000154262
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 31510946
Hemangioblastoma Associate 28742274
Hemorrhage Associate 34859601
Leukemia Associate 36595475
Lymphoma Follicular Associate 25294155
Neoplasm Metastasis Associate 31510946, 32627826
Neoplasms Associate 24957074
Ovarian Neoplasms Associate 24957074
Pseudoxanthoma Elasticum Stimulate 18936737
Thyroid Cancer Papillary Associate 32299435