Gene Gene information from NCBI Gene database.
Entrez ID 368
Gene name ATP binding cassette subfamily C member 6
Gene symbol ABCC6
Synonyms (NCBI Gene)
ABC34ARAEST349056GACI2MLP1MOAT-EMOATEMRP6PXEPXE1URG7
Chromosome 16
Chromosome location 16p13.11
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
SNPs SNP information provided by dbSNP.
321
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.
632
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 factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HNF4A Unknown 20463007
PLAG1 Activation 18850323
PLAGL1 Activation 18850323
SOX2 Activation 21531766
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603234 57 ENSG00000091262
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ABCC6-related disorder Likely pathogenic; Pathogenic rs374086268, rs72653706, rs72664209, rs63750427, rs28939701, rs72653744, rs63749856, rs72653772, rs2511049674, rs63750457, rs72650699, rs72653794, rs72650700, rs1064793538, rs63751215
View all (6 more)
RCV004538686
RCV002291267
RCV004532303
RCV004532304
RCV004532305
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of the eye Pathogenic rs63750459, rs72664237 RCV000505108
RCV000504780
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arterial calcification, generalized, of infancy, 2 Likely pathogenic; Pathogenic rs775853778, rs374086268, rs1567465730, rs1249984461, rs72653706, rs72664209, rs60791294, rs72664233, rs63750759, rs63750459, rs28939701, rs72653744, rs63750273, rs63749856, rs63750622
View all (48 more)
RCV005014516
RCV002484801
RCV002484805
RCV005021801
RCV000023272
View all (58 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive inherited pseudoxanthoma elasticum Likely pathogenic; Pathogenic rs775853778, rs374086268, rs1567465730, rs1277798362, rs2510982999, rs1249984461, rs797045078, rs72653706, rs72664209, rs60791294, rs63750427, rs72664233, rs63750759, rs387906352, rs63750459
View all (173 more)
RCV002510593
RCV002484801
RCV002484805
RCV002283757
RCV002464967
View all (190 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18439156
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration HPO_DG
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 16704654
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 30537162
★☆☆☆☆
Found in Text Mining only
Angioid Streaks Angioid streaks BEFREE 19284998
★☆☆☆☆
Found in Text Mining only
Angioid Streaks Angioid streaks CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Angioid Streaks Angioid streaks HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 16127278
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 18695775 Associate
★☆☆☆☆
Found in Text Mining only