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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1738
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV004737138
RCV004737139
RCV004535233
RCV004529636
RCV004530508
RCV004530507
RCV004529573
RCV004528132
RCV004535498
RCV004535569
RCV004737570
RCV004737568
RCV004527609
RCV004535567
RCV004527610
RCV004737567
Abnormality of the eye Pathogenic rs63750459, rs72664237 RCV000505108
RCV000504780
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
RCV000087145
RCV002496287
RCV002496288
RCV000023273
RCV002504757
RCV000762960
RCV001536083
RCV000023274
RCV000762958
RCV002500955
RCV005016654
RCV000763364
RCV002481269
RCV002481268
RCV005230336
RCV000023276
RCV000023278
RCV000023279
RCV000023281
RCV005018794
RCV005018823
RCV005018830
RCV002496898
RCV005018856
RCV005356007
RCV002489228
RCV002506213
RCV002490820
RCV002481598
RCV002496928
RCV002481600
RCV002496927
RCV002475993
RCV005018846
RCV001536007
RCV002496925
RCV002489227
RCV002496922
RCV005010420
RCV005010421
RCV005018848
RCV002475992
RCV005010418
RCV005018844
RCV002496930
RCV002481597
RCV001535944
RCV005018843
RCV002490821
RCV005018841
RCV002496916
RCV002506210
RCV002481601
RCV005018838
RCV005010423
RCV005010424
RCV002479156
RCV001196265
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
RCV005021801
RCV000190562
RCV000006937
RCV000006938
RCV000006939
RCV000006940
RCV000006941
RCV000006942
RCV000006944
RCV000006947
RCV000006949
RCV000006950
RCV000006952
RCV000006954
RCV000006956
RCV000006957
RCV000006958
RCV000006959
RCV000499080
RCV000499057
RCV000499327
RCV000499158
RCV003314461
RCV003990596
RCV000499335
RCV000499037
RCV000499152
RCV000499274
RCV000023275
RCV000023277
RCV000023280
RCV005018794
RCV000499193
RCV005018830
RCV000499218
RCV000499131
RCV000499110
RCV000499356
RCV000499281
RCV000499263
RCV000499070
RCV000499318
RCV000499209
RCV000499130
RCV000499303
RCV000499309
RCV000499150
RCV000499019
RCV000499034
RCV000499242
RCV000499133
RCV000499018
RCV000499341
RCV000499117
RCV000499319
RCV000499074
RCV000499290
RCV000499159
RCV000499015
RCV000499261
RCV000499103
RCV000499236
RCV000499145
RCV000499155
RCV000499168
RCV000499268
RCV000499046
RCV000499179
RCV000499157
RCV000499210
RCV000499027
RCV000499129
RCV000499289
RCV000499284
RCV000499086
RCV000499172
RCV000499148
RCV000499053
RCV000499304
RCV000499144
RCV000499367
RCV000499272
RCV000499039
RCV000499312
RCV000499260
RCV000499077
RCV000499250
RCV000499065
RCV000499087
RCV000499302
RCV000499185
RCV000499025
RCV000499270
RCV000499113
RCV000499040
RCV000499109
RCV000499346
RCV000499128
RCV000499329
RCV000499322
RCV000499211
RCV000499248
RCV000499169
RCV000499033
RCV000499126
RCV000499216
RCV000499139
RCV000499208
RCV000499293
RCV000499178
RCV000499238
RCV000499278
RCV000499031
RCV000499222
RCV000499200
RCV000499188
RCV000499119
RCV000499365
RCV000499251
RCV000499165
RCV000499052
RCV000499338
RCV000499201
RCV000499091
RCV000499012
RCV000499343
RCV000499059
RCV000499075
RCV000499081
RCV000499020
RCV000499175
RCV000499189
RCV000499026
RCV000499162
RCV000499045
RCV000499245
RCV000499137
RCV000499067
RCV000499090
RCV000499328
RCV000499213
RCV000499295
RCV000499358
RCV000499116
RCV000499151
RCV000499256
RCV000499035
RCV000499310
RCV000499114
RCV000499207
RCV000499258
RCV000499102
RCV000499105
RCV000499316
RCV000499314
RCV000499036
RCV000499010
RCV000499276
RCV000499048
RCV000499051
RCV000499283
RCV000499350
RCV000499253
RCV000499187
RCV000499225
RCV000499079
RCV000499301
RCV000499288
RCV000499342
RCV000499280
RCV000499170
RCV000499234
RCV000499106
RCV000499167
RCV000499345
RCV000499184
RCV000499149
RCV000499192
RCV000499141
RCV000499101
RCV000499336
RCV000499135
RCV000499357
RCV000499257
RCV000499292
RCV000786044
RCV000989540
RCV000989541
RCV001002850
RCV001254863
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs72657698, rs41278172, rs58703366 RCV005886938
RCV005895521
RCV005903737
Cholangiocarcinoma Benign; Likely benign rs72657698 RCV005886943
Clear cell carcinoma of kidney Benign; Likely benign rs41278172 RCV005895524
Colon adenocarcinoma Benign; Likely benign rs41278172 RCV005895520
Associations from Text MiningDisease 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