Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1244
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily C member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCC2
Synonyms (NCBI Gene) Gene synonyms aliases	ABC30, CMOAT, DJS, MRP2, cMRP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DJS
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.2
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

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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
rs56199535	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs72558199	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs72558200	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs72558201	A>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs72558202	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs139082536	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, 3 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs139800035	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs144192700	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146405172	G>A	Likely-pathogenic	Splice donor variant
rs146575217	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs183923599	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs371866713	C>A,G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs387906395	T>A,G	Pathogenic	Splice donor variant
rs387906396	T>C	Pathogenic	Splice donor variant
rs559137047	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs559908064	C>A,G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs577353173	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, missense variant
rs756707816	G>A,C	Pathogenic	Splice acceptor variant
rs761406918	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs762243203	G>A	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs762291612	CC>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs762346634	->TC	Pathogenic	Non coding transcript variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, frameshift variant
rs762914474	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs764958537	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs765580991	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs769798659	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs771652807	->T	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs772673105	CT>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs773850184	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs774778158	AT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs775771081	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs776087856	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs777325157	ACAACAC>-	Pathogenic	Coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs777902199	C>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs864309675	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs919078015	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1158274146	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1161530285	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1208873596	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1257076487	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1314486961	->A	Pathogenic	Coding sequence variant, initiator codon variant, frameshift variant, non coding transcript variant
rs1333544687	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554845888	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1554849397	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554850241	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs1554851699	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554853026	TTAA>-	Pathogenic	Downstream transcript variant, intron variant, frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554854612	->TC	Pathogenic	Downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1564674618	GAGT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564687941	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564688595	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564702358	A>T	Pathogenic	Downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1590192032	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT731994	hsa-miR-490-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28386339
MIRT731994	hsa-miR-490-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28386339
MIRT732840	hsa-miR-379-3p	Luciferase reporter assay, RNA-seq, qRT-PCR	31757862
MIRT734920	hsa-miR-424-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33273826
MIRT758343	hsa-let-7a	CLIP-seq
MIRT758344	hsa-let-7b	CLIP-seq
MIRT758345	hsa-let-7c	CLIP-seq
MIRT758346	hsa-let-7d	CLIP-seq
MIRT758347	hsa-let-7e	CLIP-seq
MIRT758348	hsa-let-7f	CLIP-seq
MIRT758349	hsa-let-7g	CLIP-seq
MIRT758350	hsa-let-7i	CLIP-seq
MIRT758351	hsa-miR-1273d	CLIP-seq
MIRT758352	hsa-miR-1297	CLIP-seq
MIRT758353	hsa-miR-26a	CLIP-seq
MIRT758354	hsa-miR-26b	CLIP-seq
MIRT758355	hsa-miR-3132	CLIP-seq
MIRT758356	hsa-miR-3529	CLIP-seq
MIRT758357	hsa-miR-379	CLIP-seq
MIRT758358	hsa-miR-3927	CLIP-seq
MIRT758359	hsa-miR-4263	CLIP-seq
MIRT758360	hsa-miR-4299	CLIP-seq
MIRT758361	hsa-miR-4458	CLIP-seq
MIRT758362	hsa-miR-4465	CLIP-seq
MIRT758363	hsa-miR-4500	CLIP-seq
MIRT758364	hsa-miR-451b	CLIP-seq
MIRT758365	hsa-miR-4540	CLIP-seq
MIRT758366	hsa-miR-4729	CLIP-seq
MIRT758367	hsa-miR-513c	CLIP-seq
MIRT758368	hsa-miR-514b-5p	CLIP-seq
MIRT758369	hsa-miR-576-5p	CLIP-seq
MIRT758370	hsa-miR-619	CLIP-seq
MIRT758371	hsa-miR-98	CLIP-seq
MIRT758355	hsa-miR-3132	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
IRF3	Activation	15185298

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17825285, 21988832
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0006855	Process	Drug transmembrane transport	IMP	18245269
GO:0006954	Process	Inflammatory response	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0008514	Function	Organic anion transmembrane transporter activity	TAS	7559771
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	18245269
GO:0009408	Process	Response to heat	IEA
GO:0009986	Component	Cell surface	HDA	19581412
GO:0009986	Component	Cell surface	IDA	17825285
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0015127	Function	Bilirubin transmembrane transporter activity	TAS
GO:0015694	Process	Mercury ion transport	IEA
GO:0015721	Process	Bile acid and bile salt transport	IMP	16332456
GO:0015722	Process	Canalicular bile acid transport	IEA
GO:0015723	Process	Bilirubin transport	IEA
GO:0015732	Process	Prostaglandin transport	IEA
GO:0016020	Component	Membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	11093739, 17825285
GO:0016887	Function	ATPase activity	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030644	Process	Cellular chloride ion homeostasis	IEA
GO:0031427	Process	Response to methotrexate	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0033762	Process	Response to glucagon	IEA
GO:0035690	Process	Cellular response to drug	IEA
GO:0038183	Process	Bile acid signaling pathway	IEA
GO:0042178	Process	Xenobiotic catabolic process	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	11500505
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	11500505
GO:0043627	Process	Response to estrogen	IEA
GO:0046581	Component	Intercellular canaliculus	IEA
GO:0046618	Process	Drug export	IMP	18245269
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0046691	Component	Intracellular canaliculus	IEA
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0070327	Process	Thyroid hormone transport	IEA
GO:0070633	Process	Transepithelial transport	ISS
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071347	Process	Cellular response to interleukin-1	IEA
GO:0071354	Process	Cellular response to interleukin-6	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0071716	Process	Leukotriene transport	IEA
GO:0097327	Process	Response to antineoplastic agent	IEA
GO:0120188	Process	Regulation of bile acid secretion	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1901086	Process	Benzylpenicillin metabolic process	IEA
GO:1904486	Process	Response to 17alpha-ethynylestradiol	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IEA
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	ISS

MIM	HGNC	e!Ensembl
601107	53	ENSG00000023839

Protein

UniProt ID

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
QLQCVVIFVFQLTPVLVSVVTFSVYVLVDSNNILDAQKAFTSITLFNILRFPLSMLPMMI
SSMLQASVSTERLEKYLGGDDLDTSAIRHDCNFDKAMQFSEASFTWEHDSEATVRDVNLD
IMAGQLVAVIGPVGSGKSSLISAMLGEMENVHGHITIKGTTAYVPQQSWIQNGTIKDNIL
FGTEFNEKRYQQVLEACALLPDLEMLPGGDLAEIGEKGINLSGGQKQRISLARATYQNLD
IYLLDDPLSAVDAHVGKHIFNKVLGPNGLLKGKTRLLVTHSMHFLPQVDEIVVLGNGTIV
EKGSYSALLAKKGEFAKNLKTFLRHTGPEEEATVHDGSEEEDDDYGLISSVEEIPEDAAS
ITMRRENSFRRTLSRSSRSNGRHLKSLRNSLKTRNVNSLKEDEELVKGQKLIKKEFIETG
KVKFSIYLEYLQAIGLFSIFFIILAFVMNSVAFIGSNLWLSAWTSDSKIFNSTDYPASQR
DMRVGVYGALGLAQGIFVFIAHFWSAFGFVHASNILHKQLLNNILRAPMRFFDTTPTGRI
VNRFAGDISTVDDTLPQSLRSWITCFLGIISTLVMICMATPVFTIIVIPLGIIYVSVQMF
YVSTSRQLRRLDSVTRSPIYSHFSETVSGLPVIRAFEHQQRFLKHNEVRIDTNQKCVFSW
ITSNRWLAIRLELVGNLTVFFSALMMVIYRDTLSGDTVGFVLSNALNITQTLNWLVRMTS
EIETNIVAVERITEYTKVENEAPWVTDKRPPPDWPSKGKIQFNNYQVRYRPELDLVLRGI
TCDIGSMEKIGVVGRTGAGKSSLTNCLFRILEAAGGQIIIDGVDIASIGLHDLREKLTII
PQDPILFSGSLRMNLDPFNNYSDEEIWKALELAHLKSFVASLQLGLSHEVTEAGGNLSIG
QRQLLCLGRALLRKSKILVLDEATAAVDLETDNLIQTTIQNEFAHCTVITIAHRLHTIMD
SDKVMVLDNGKIIECGSPEELLQIPGPFYFMAKEAGIENVNSTKF

Sequence length

1545

Interactions

View interactions

ABCC2 (ATP binding cassette subfamily C member 2)