Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
368
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily C member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCC6
Synonyms (NCBI Gene) Gene synonyms aliases
ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2606921 G>A Pathogenic Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs2856597 C>T Pathogenic Missense variant, 5 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs4780605 G>A Likely-benign, pathogenic Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs28939701 G>A Pathogenic Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs28939702 G>A,T Pathogenic Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT612259 hsa-miR-8485 HITS-CLIP 23313552
MIRT616130 hsa-miR-329-3p HITS-CLIP 23313552
MIRT616129 hsa-miR-362-3p HITS-CLIP 23313552
MIRT616128 hsa-miR-603 HITS-CLIP 23313552
MIRT612257 hsa-miR-4434 HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
HNF4A Unknown 20463007
PLAG1 Activation 18850323
PLAGL1 Activation 18850323
SOX2 Activation 21531766
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IDA 11880368
GO:0005524 Function ATP binding IEA
GO:0005524 Function ATP binding TAS 8912525
GO:0005576 Component Extracellular region IDA 28592560
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603234 57 ENSG00000091262
Protein
UniProt ID O95255
Protein name ATP-binding cassette sub-family C member 6 (EC 7.6.2.-) (EC 7.6.2.3) (Anthracycline resistance-associated protein) (Multi-specific organic anion transporter E) (MOAT-E) (Multidrug resistance-associated protein 6)
Protein function [Isoform 1]: ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Mediates ATP-dependent transport of glutathione conjugates such as leukotriene-c4 (LTC4)
PDB 6BZR , 6BZS , 6NLO , 6P7F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 311 581 ABC transporter transmembrane region Family
PF00005 ABC_tran 646 781 ABC transporter Domain
PF00664 ABC_membrane 947 1216 ABC transporter transmembrane region Family
PF00005 ABC_tran 1282 1430 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney and liver. Very low expression in other tissues. In testis, localized to peritubular myoid cells, Leydig cells, along the basal membrane of Sertoli cells and moderately in the adluminal compartment of the seminifero
Sequence
MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGR
GYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVF
LIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQ
FVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLG
RENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLL
KAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSA
CLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRL
TESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQ
MRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQ
VSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQ
AFLPFSIHSLVQARVSFDR
LVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLA
VVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPP
WLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPL
A
ALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQEL
LQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRT
TSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVA
SFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLL
FQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVV
AVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAF
RTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAG
LVGFSVSAALQVTQTL
QWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWP
QGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAE
GGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQL
KALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATA
AVDPGTELQM
QAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQES
GLV
Sequence length 1503
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Arterial Calcification arterial calcification, generalized, of infancy, 2 rs72664209, rs72653794, rs63750273, rs72650700, rs387906860, rs63750759, rs67561842, rs72653706, rs387906859 N/A
Pseudoxanthoma elasticum Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste rs74315152, rs63750410, rs72664216, rs72650699, rs72653782, rs72664209, rs72653744, rs1555512419, rs1555507925, rs1002088882, rs1333662666, rs1555514439, rs72653764, rs387906859, rs63751215
View all (165 more)
N/A
retinal dystrophy Retinal dystrophy rs72664214, rs72664233, rs72653787 N/A
Optic Atrophy optic atrophy rs72653786 N/A
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
Finnish Congenital Nephrotic Syndrome finnish congenital nephrotic syndrome N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33879658
Arrhythmias Cardiac Associate 18695775
Arterial calcification of infancy Associate 22209248, 23746223, 24008425, 33005041, 34355424
beta Thalassemia Associate 25169437
Breast Neoplasms Associate 40641097
Calcinosis Associate 16543900, 25064003, 25169437, 33812167
Calcinosis Inhibit 24008425, 36317459, 39865650
Carcinoma Hepatocellular Associate 23912081, 35363194, 38003580
Carcinoma Renal Cell Inhibit 16080518
Carcinoma Renal Cell Associate 38179759