Gene Gene information from NCBI Gene database.
Entrez ID 1244
Gene name ATP binding cassette subfamily C member 2
Gene symbol ABCC2
Synonyms (NCBI Gene)
ABC30CMOATDJSMRP2cMRP
Chromosome 10
Chromosome location 10q24.2
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.
58
SNP ID Visualize variation Clinical significance Consequence
rs17222547 C>A Pathogenic Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained, 3 prime UTR variant
rs17222674 A>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs17222716 G>C Conflicting-interpretations-of-pathogenicity Intron variant, genic downstream transcript variant
rs34937870 G>A,T Pathogenic Splice donor variant, genic downstream transcript variant, intron variant
rs56131651 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
34
miRTarBase ID miRNA Experiments Reference
MIRT731994 hsa-miR-490-3p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 28386339
MIRT731994 hsa-miR-490-3p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 28386339
MIRT732840 hsa-miR-379-3p Luciferase reporter assayRNA-seqqRT-PCR 31757862
MIRT734920 hsa-miR-424-3p Luciferase reporter assayWestern blottingqRT-PCR 33273826
MIRT758343 hsa-let-7a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
IRF3 Activation 15185298
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 17825285, 21988832
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601107 53 ENSG00000023839
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92887
Protein name ATP-binding cassette sub-family C member 2 (EC 7.6.2.-) (EC 7.6.2.2) (EC 7.6.2.3) (Canalicular multidrug resistance protein) (Canalicular multispecific organic anion transporter 1) (Multidrug resistance-associated protein 2)
Protein function ATP-dependent transporter of the ATP-binding cassette (ABC) family that binds and hydrolyzes ATP to enable active transport of various substrates including many drugs, toxicants and endogenous compound across cell membranes. Transports a wide va
PDB 8IZQ , 8IZR , 8JX7 , 8JXQ , 8JXU , 8JY4 , 8JY5 , 9BR2 , 9BUK , 9C12 , 9C2I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 322 593 ABC transporter transmembrane region Family
PF00005 ABC_tran 654 789 ABC transporter Domain
PF00664 ABC_membrane 979 1251 ABC transporter transmembrane region Family
PF00005 ABC_tran 1317 1465 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by polarized cells in liver, kidney and intestine. The highest expression is found in liver. Expressed in small intestine (PubMed:28408210). {ECO:0000269|PubMed:28408210}.
Sequence
MLEKFCNSTFWNSSFLDSPEADLPLCFEQTVLVWIPLGYLWLLAPWQLLHVYKSRTKRSS
TTKLYLAKQVFVGFLLILAAIELALVLTEDSGQATVPAVRYTNPSLYLGTWLLVLLIQYS
RQWCVQKNSWFLSLFWILSILCGTFQFQTLIRTLLQGDNSNLAYSCLFFISYGFQILILI
FSAFSENNESSNNPSSIASFLSSITYSWYDSIILKGYKRPLTLEDVWEVDEEMKTKTLVS
KFETHMKRELQKARRALQRRQEKSSQQNSGARLPGLNKNQSQSQDALVLEDVEKKKKKSG
TKKDVPKSWLMKALFKTFYMVLLKSFLLKLVNDIFTFVSPQLLKLLISFASDRDTYLWIG
YLCAILLFTAALIQSFCLQCYFQLCFKLGVKVRTAIMASVYKKALTLSNLARKEYTVGET
VNLMSVDAQKLMDVTNFMHMLWSSVLQIVLSIFFLWRELGPSVLAGVGVMVLVIPINAIL
STKSKTIQVKNMKNKDKRLKIMNEILSGIKILKYFAWEPSFRDQVQNLRKKELKNLLAFS
QLQCVVIFVFQLTPVLVSVVTFSVYVLVDSNNILDAQKAFTSITLFNILRFPL
SMLPMMI
SSMLQASVSTERLEKYLGGDDLDTSAIRHDCNFDKAMQFSEASFTWEHDSEATVRDVNLD
IMAGQLVAVIGPVGSGKSSLISAMLGEMENVHGHITIKGTTAYVPQQSWIQNGTIKDNIL
FGTEFNEKRYQQVLEACALLPDLEMLPGGDLAEIGEKGINLSGGQKQRISLARATYQNLD
IYLLDDPLS
AVDAHVGKHIFNKVLGPNGLLKGKTRLLVTHSMHFLPQVDEIVVLGNGTIV
EKGSYSALLAKKGEFAKNLKTFLRHTGPEEEATVHDGSEEEDDDYGLISSVEEIPEDAAS
ITMRRENSFRRTLSRSSRSNGRHLKSLRNSLKTRNVNSLKEDEELVKGQKLIKKEFIETG
KVKFSIYLEYLQAIGLFSIFFIILAFVMNSVAFIGSNLWLSAWTSDSKIFNSTDYPASQR
DMRVGVYGALGLAQGIFVFIAHFWSAFGFVHASNILHKQLLNNILRAPMRFFDTTPTGRI
VNRFAGDISTVDDTLPQSLRSWITCFLGIISTLVMICMATPVFTIIVIPLGIIYVSVQMF
YVSTSRQLRRLDSVTRSPIYSHFSETVSGLPVIRAFEHQQRFLKHNEVRIDTNQKCVFSW
ITSNRWLAIRLELVGNLTVFFSALMMVIYRDTLSGDTVGFVLSNALNITQT
LNWLVRMTS
EIETNIVAVERITEYTKVENEAPWVTDKRPPPDWPSKGKIQFNNYQVRYRPELDLVLRGI
TCDIGSMEKIGVVGRTGAGKSSLTNCLFRILEAAGGQIIIDGVDIASIGLHDLREKLTII
PQDPILFSGSLRMNLDPFNNYSDEEIWKALELAHLKSFVASLQLGLSHEVTEAGGNLSIG
QRQLLCLGRALLRKSKILVLDEATA
AVDLETDNLIQTTIQNEFAHCTVITIAHRLHTIMD
SDKVMVLDNGKIIECGSPEELLQIPGPFYFMAKEAGIENVNSTKF
Sequence length 1545
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
425
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABCC2-related disorder Likely pathogenic; Pathogenic rs376398719, rs781481868, rs146405172, rs17222547, rs780765144, rs34937870, rs56199535, rs72558202, rs72558200, rs371866713, rs777438560, rs754267460, rs554976086, rs66898362, rs753329079
View all (14 more)
RCV004746452
RCV003399193
RCV003965261
RCV003416080
RCV004747093
RCV003895238
RCV004745150
RCV003407306
RCV003421913
RCV003409423
RCV003402735
RCV003412139
RCV004747320
RCV003909038
RCV003966639
RCV003893457
RCV004723508
RCV003894002
RCV003982281
RCV003911524
RCV003415739
RCV004745492
RCV004745495
RCV003953002
RCV003396303
RCV004745568
RCV004745575
RCV004745581
RCV004745582
RCV003405317
Autosomal recessive inherited pseudoxanthoma elasticum Likely pathogenic; Pathogenic rs146405172 RCV000991170
Colon adenocarcinoma Likely pathogenic rs781481868 RCV005912590
Dubin-Johnson syndrome Likely pathogenic; Pathogenic rs903690171, rs376398719, rs775410341, rs2038788369, rs1351419381, rs2132976682, rs766573679, rs2133124899, rs34937870, rs2492860078, rs864309675, rs56199535, rs387906395, rs200606989, rs72558202
View all (28 more)
RCV005038586
RCV001781687
RCV001781703
RCV001785189
RCV001807897
RCV002052178
RCV002052262
RCV002272767
RCV000190561
RCV005034436
RCV000203293
RCV000008923
RCV000008925
RCV000008926
RCV000008927
RCV000008928
RCV000008929
RCV000008930
RCV000853302
RCV005033854
RCV003338150
RCV005036790
RCV004796817
RCV004796825
RCV004796826
RCV004801369
RCV004796849
RCV005356551
RCV003842937
RCV004759327
RCV000342000
RCV000024307
RCV003129872
RCV001809690
RCV004760639
RCV005240299
RCV001784362
RCV005357971
RCV005633658
RCV004720281
RCV001809792
RCV000853304
RCV004702575
RCV005036409
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Conflicting classifications of pathogenicity rs60190212, rs139800035 RCV005914660
RCV005895889
Familial cancer of breast Conflicting classifications of pathogenicity rs139800035, rs144192700 RCV005895888
RCV005891752
Hepatocellular carcinoma Benign; Likely benign; Conflicting classifications of pathogenicity rs138988852, rs144192700 RCV005891751
RCV005891753
Lung cancer Benign rs60190212 RCV005914661
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 28640195
Adenocarcinoma Associate 16107775
Adenocarcinoma of Lung Associate 33879658, 37589509, 38594917
Adenoma Stimulate 25793771
Anemia Associate 24404132, 25881102
Arthritis Rheumatoid Associate 23897011
Asthma Associate 30655622
Beta ketothiolase deficiency Associate 28583112
Bone Diseases Associate 28583112
Brain Injuries Traumatic Associate 23896815