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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABCC5 Gene

protein-coding GIFtS: 61
GCID: GC03M183637

ATP-binding cassette, sub-family C (CFTR/MRP), member 5

Explore 38 diseases affiliated with
ABCC5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 5¹ ²		ATP-Binding Cassette Sub-Family C Member 5² ³
MRP5¹ ² ³ ⁵		PABC11¹
MOAT-C¹ ² ³		MOATC² ⁵
SMRP¹ ² ³		ABC33²
EST277145¹ ²		Canalicular Multispecific Organic Anion Transporter C²
Multi-Specific Organic Anion Transporter C² ³		Multidrug Resistance-Associated Protein 5²

External Ids:	HGNC: 56¹	Entrez Gene: 10057²	Ensembl: ENSG00000114770⁷	OMIM: 605251⁵	UniProtKB: O15440³

Export aliases for ABCC5 gene to outside databases

Previous GC identifers: GC03M180375 GC03M184632 GC03M185039 GC03M184958 GC03M185120 GC03M181047

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABCC5:

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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily

which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic

nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for

cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine

and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance

to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients.

Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is

unclear. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MRP5_HUMAN, O15440

Function: Acts as a multispecific organic anion pump which can transport nucleotide analogs

Gene Wiki entry for ABCC5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABCC5 gene promoter:
SRF NF-1 SRF (504 AA) POU6F1 (c2) CUTL1 Tal-1beta E47 FOXL1 AREB6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ABCC5 promoter sequence

Search SABiosciences Chromatin IP Primers for ABCC5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q27 Ensembl cytogenetic band: 3q27.1 HGNC cytogenetic band: 3q27

ABCC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC5 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M183637: view genomic region (about GC identifiers)

Start:	183,637,722 bp from pter	End:	183,735,803 bp from pter
Size:	98,082 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MRP5_HUMAN, O15440 (See protein sequence)

Recommended Name: Multidrug resistance-associated protein 5

Size: 1437 amino acids; 160660 Da

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: B9EIQ2 O14517 Q29ZA9 Q29ZB1 Q86W30 Q9UN85 Q9UNP5 Q9UQC3

Alternative splicing: 4 isoforms: O15440-1 O15440-2 O15440-3 O15440-4 (Predominant isoform in retinal pigment epithelium, bladder, and stomach)

Explore the universe of human proteins at neXtProt for ABCC5: NX_O15440

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15440

ABCC5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001018881.1 NP_005679.2

ENSEMBL proteins:

ENSP00000333926 ENSP00000403510 ENSP00000404302 ENSP00000404809 ENSP00000416840

ENSP00000376358 ENSP00000371934 ENSP00000409913 ENSP00000399726 ENSP00000390911

ENSP00000265586

Reactome Protein details: O15440
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	Uscn Proteins for ABCC5

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	9827529
GO:0016020	membrane	IDA	15297306
GO:0016021	integral to membrane	--	--

ABCC5 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ABCC5 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR003439 ABC_transporter-like

IPR001140 ABC_transptr_TM_dom

IPR003593 AAA+_ATPase

IPR017940 ABC_transporter_type1

IPR011527 ABC_transptrTM_dom_typ1

Graphical View of Domain Structure for InterPro Entry O15440

ProtoNet protein and cluster: O15440

UniProtKB/Swiss-Prot: MRP5_HUMAN, O15440

Similarity: Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily

Similarity: Contains 2 ABC transmembrane type-1 domains

Similarity: Contains 2 ABC transporter domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MRP5_HUMAN, O15440

Function: Acts as a multispecific organic anion pump which can transport nucleotide analogs

Genatlas biochemistry entry for ABCC5:

ATP binding cassettte superfamily,subfamily C (CFTR/MRP),member 5

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		hsa-miR-3607-3p hsa-let-7d hsa-miR-181c* hsa-miR-624* hsa-let-7a-2* hsa-let-7c hsa-miR-340 hsa-let-7g

		SwitchGear 3'UTR luciferase reporter plasmid: ABCC5 3' UTR sequence

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In Situ Assay
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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--
GO:0008514	organic anion transmembrane transporter activity	TAS	9827529
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	IEA	--

ABCC5 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Abcc5^tm1Bor for ABCC5
     1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Abcc5):

cellular

ABCC5 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/14 pathways (see all 14)
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS I - Hurler syndrome	1.00	MPS IIID - Sanfilippo syndrome D	1.00
Mucopolysaccharidoses	1.00	MPS IX - Natowicz syndrome	1.00
MPS IV - Morquio syndrome A	1.00	MPS II - Hunter syndrome	1.00

Acetaminophen Pathway, Pharmacokinetics

Pathway_PA165986194 -need delete

1.00

Acetaminophen Pathway, Pharmacokinetics

1.00

Fluoropyrimidine Activity

Fluoropyrimidine Activity

1.00

Fluoropyrimidine Pathway, Pharmacokinetics

0.73

ABC-family proteins mediated transport

ABC-family proteins mediated transport

1.00

ABC transporters

0.70

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for ABCC5

Fluoropyrimidine Activity

5/20 Reactome Pathways for ABCC5 (see all 20)

	Hyaluronan metabolism
	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	Transmembrane transport of small molecules

5 PharmGKB Pathways for ABCC5

	Acetaminophen Pathway, Pharmacokinetics
	Fluoropyrimidine Pathway, Pharmacokinetics
	Pathway_PA165986194 -need delete
	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics
	Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

1 Kegg Pathway (Kegg details for ABCC5):

ABC transporters

ABCC5 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ABCC5

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for ABCC5 (O15440³ ENSP00000333926⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ESR1	P03372³, ENSP00000206249⁴	I2D: score=1 STRING: ENSP00000206249
HAS1	ENSP00000222115⁴	STRING: ENSP00000222115
HAS3	ENSP00000304440⁴	STRING: ENSP00000304440
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
AK2	ENSP00000346921⁴	STRING: ENSP00000346921

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006810	transport	TAS	9827529
GO:0015711	organic anion transport	TAS	9827529
GO:0030203	glycosaminoglycan metabolic process	TAS	--
GO:0030212	hyaluronan metabolic process	TAS	--

ABCC5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ABCC5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ABCC5

10/13 DrugBank Compounds for ABCC5 (see all 13) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Sildenafil	--	139755-83-2	transporter	inhibitor	12695538 10893247
Adefovir Dipivoxil	Adefovir (see all 7)	142340-99-6	transporter	substrate	10840050
Alprostadil	--	745-65-3	transporter	inhibitor	12835412
Atorvastatin	--	134523-00-5	transporter	substrate	19940267
Cisplatin	Cis-DDP (see all 4)	15663-27-1	transporter	inducer	11323161
Cyclic Adenosine Monophosphate	3'-5'-cyclic adenosine monophosphate (see all 5)	60-92-4	transporter	inhibitor	10893247
Dinoprostone	Dinoprostone Prostaglandin E2 (see all 3)	363-24-6	transporter	inhibitor	12835412
Dipyridamole	Dipiridamol (see all 6)	58-32-2	transporter	inhibitor	12695538
Glutathione	5-L-Glutamyl-L-cysteinylglycine (see all 5)	70-18-8	transporter	substrate	16539673
Mercaptopurine	6 MP (see all 5)	50-44-2	transporter	substrate	10840050

10/21 Novoseek chemical compound relationships for ABCC5 gene (see all 21) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mk 571	80.5	3	16337112 (1), 12695538 (1)
s-(2,4-dinitrophenyl)glutathione	80.4	2	10840050 (1)
probenecid	71.2	1	16337112 (1)
adefovir	64.7	8	19323627 (2), 10840050 (1), 12695538 (1), 16868766 (1)
thiopurine	60.9	3	19340001 (1), 12435799 (1)
6 thioguanine	57.7	1	12435799 (1)
zaprinast	56.8	1	17540771 (1)
nucleoside	56.7	11	12695538 (2), 10840050 (1), 15897250 (1), 15816546 (1) (see all 5)
cgmp	54.8	24	11956491 (3), 14507663 (2), 16614078 (2), 17540771 (2) (see all 8)
6 mercaptopurine	44.4	4	12435799 (4)

Search CenterWatch for drugs/clinical trials and news about ABCC5 / MRP5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ABCC5 gene (2 alternative transcripts):

NM_001023587.1 NM_005688.2

Unigene Cluster for ABCC5:

ATP-binding cassette, sub-family C (CFTR/MRP), member 5

Hs.743953 [show with all ESTs]

Unigene Representative Sequence: AF146074

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000334444(uc010hxl.3 uc003fmg.3) ENST00000437205(uc011bqt.2)

ENST00000443497 ENST00000476402 ENST00000492216 ENST00000427120(uc010hxo.3)

ENST00000443376(uc010hxm.3) ENST00000392579(uc010hxn.3) ENST00000382494(uc003fmh.3)

ENST00000438979 ENST00000437341 ENST00000446941(uc003fmi.3) ENST00000265586

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		hsa-miR-3607-3p hsa-let-7d hsa-miR-181c* hsa-miR-624* hsa-let-7a-2* hsa-let-7c hsa-miR-340 hsa-let-7g

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Additional cDNA sequence:

AB005659.1 AB019002.1 AB209103.1 AB209454.1 AF104942.1 AF146074.1 AK090667.1 AL359600.1

AY196484.1 AY754874.1 AY754875.1 AY754876.1 BC050744.1 BC051358.1 BC140771.1 BC142670.1

BC142719.1 BC144495.1 BX647245.1 BX649032.1 U66687.1 U83661.2

15 DOTS entries:

DT.91688348 DT.312745 DT.100804398 DT.97801613 DT.86857789 DT.120866548 DT.120866554 DT.91755905

DT.97847973 DT.455723 DT.100746639 DT.120866613 DT.406116 DT.97813740 DT.97813791

24/289 AceView cDNA sequences (see all 289):

AI969666 AA378333 BQ272598 CR590924 BM512329 BM758433 AW135435 BU676278

BC050744 BM757802 AA866214 T87404 BC051358 BG024049 BC015334 BU618083

BI770139 AI867540 BU184871 BM695701 AW964148 AI911655 BM310090 AA653545

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ABCC5 (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15a	·	15b	·	15c	^	16a	·	16b	^	17	^	18	^
SP1:													-		-								-		-														-								-
SP2:													-		-								-		-														-								-
SP3:																																															-
SP4:													-		-
SP5:															-

ExUns:	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34a	·	34b
SP1:
SP2:															-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ABCC5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ABCC5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGCTGAAC

About this image

ABCC5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Left Ventricle

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mature brain microvascular endothelial cells (Derivation of blood-...)

See ABCC5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCC5

SOURCE GeneReport for Unigene cluster: Hs.743953

UniProtKB/Swiss-Prot: MRP5_HUMAN, O15440

Tissue specificity: All isoforms are equally expressed in retina

SABiosciences Expression via Pathway-Focused PCR Arrays including ABCC5:

Drug Transporters in human mouse rat

Cancer Drug Resistance in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCC5 gene from 7/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ABCC5¹	ATP-binding cassette, sub-family C (CFTR/MRP), member more	79.75(n) 89.12(a)		424947 XM_422754.3 XP_422754.2
lizard (Anolis carolinensis)	Reptilia	ABCC5⁶	--	86(a)	1 ↔ 1	GL343245.1(1739872-1776502)
African clawed frog (Xenopus laevis)	Amphibia	MGC68608²	hypothetical protein MGC68608	75.87(n)		BC060469.1
zebrafish (Danio rerio)	Actinopterygii	CK024774.1²	--	76.39(n)		CK024774.1
honey bee (Apis mellifera)	Insecta	--	--	39(a)	1 ↔ 1	GroupUn.2088(7567-16446)
worm (Caenorhabditis elegans)	Secernentea	mrp-5¹	Protein MRP-5	48.44(n) 39.06(a)		181587 NM_078078.1 NP_510479.1
rice (Oryza sativa)	Liliopsida	Os02g0288400¹	hypothetical protein	45.68(n) 36.76(a)		4329047 NM_001053118.1 NP_001046583.1

ENSEMBL Gene Tree for ABCC5 (if available)
TreeFam Gene Tree for ABCC5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ABCC5 gene

ABCC4² ABCC12² ABCC1² ABCC10² CFTR² ABCC8² ABCC6² ABCC3²

ABCC2² ABCC11² ABCC9²

18/22 SIMAP similar genes for ABCC5 using alignment to 8 protein entries: MRP5_HUMAN (see all proteins) (see all similar genes):

ABCB4 DKFZp434I2115 ABC-transporter TAP1 ABCC12 MOAT-B

ABCC11 NG-TRA CFTR ABCC4 ara DKFZp781G125

ABCC9 ABCC1 ABCC10 ABCC8 ABCC2 ABCC3

ABCC5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs13326374^1,2	C,A	--	181083047(+)	`ACATCA/GGTTAC`	1	--	int¹		2		NA	4
rs72625006^1,2		--	183637236(+)	`ACCTCC/TGAGTT`	1	--	ds500¹		4		CSA WA EA	241
rs2313216^1,2	C,F,A,H,	--	183637251(-)	`CAGGAA/GAATCA`	1	--	ds500¹		8		NA WA	136
rs2313215^1,2	C,F,A,H,	--	183637301(-)	`CCTGGT/CGTGGT`	1	--	ds500¹		7		NA WA	16
rs146865877^1,2		--	183637383(+)	`AGGGTA/CATTAT`	1	--	ds500¹		0	--	--	--	--
rs139300509^1,2		--	183637423(+)	`AACTAC/TTCATT`	1	--	ds500¹		0	--	--	--	--
rs3805114^1,2	C,F,H,	--	183637722(-)	`GTAAAA/CCTCTT`	1	--	ut3¹		24		EA NA NS WA	4176
rs562^1,2	C,F,A,H,	--	183637845(+)	`TTCAAC/TTGATG`	1	--	ut3¹		30		MN EA NA NS WA CSA	4120
rs191957272^1,2		--	183637883(+)	`ACCAGC/GCCCAC`	1	--	ut3¹		0	--	--	--	--
rs143330011^1,2		--	183637898(+)	`CAAAGC/GGGGTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ABCC5 (183637722 - 183735803 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ABCC5
1 CNV: 68514

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ABCC5 for disorders           About GeneDecksing

OMIM gene information: 605251    OMIM disorders: --

20/38 diseases for ABCC5 (see all 38):    About MalaCards

acute lymphoblastic leukemia lymphoblastic leukemia dubin-johnson syndrome dysembryoplastic neuroepithelial tumor

leukemia arteriovenous malformation status epilepticus intractable epilepsy

acute liver failure benign mesothelioma hearing loss malignant mesothelioma

acute myeloid leukemia herpes simplex myeloid leukemia malignant glioma

cystic fibrosis rheumatoid arthritis colon adenocarcinoma lung cancer

10/12 Novoseek disease relationships for ABCC5 gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	40.9	12	10739113 (1), 15581025 (1), 17518506 (1), 12153153 (1) (see all 9)
cancer	26.6	4	9270026 (1), 16337112 (1)
lymphoblastic leukemia acute	26.2	3	10840050 (1), 12816874 (1)
glioma	24.1	5	16193381 (4)
arteriovenous malformations	15.9	1	16193381 (1)
epilepsy	12.6	2	12699350 (1), 16193381 (1)
small cell lung cancer	9.13	1	10100721 (1)
leukemia	7.28	1	19142964 (1)
immunodeficiency	2.35	1	15105153 (1)
cancer lung	2.27	20	10728601 (6), 11745426 (3), 11766988 (1)

Human Genome Epidemiology (HuGE) Navigator: ABCC5 (8 documents)

Export disorders for ABCC5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ABCC5 gene, integrated from 9 sources (see all 137):
(articles sorted by number of sources associating them with ABCC5)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of MOAT-C and MOAT-D, new members of the MRP/cMOAT subfamily of transporter proteins. (PubMed id 9827529)^{1, 2, 3, 9} Belinsky M.G.... Kruh G.D. (1998)
Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs. (PubMed id 10840050)^{1, 2, 7, 9} Wijnholds J.... Borst P. (2000)
Characterization of the transport of nucleoside analog drugs by the human multidrug resistance proteins MRP4 and MRP5. (PubMed id 12695538)^{1, 7, 9} Reid G....Borst P. (2003)
Detailed structural analysis on both human MRP5 and mouse mrp5 transcripts. (PubMed id 10721709)^{1, 2, 9} Suzuki T.... Nishio K. (2000)
Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines. (PubMed id 9270026)^{1, 2, 9} Kool M.... Borst P. (1997)
The multidrug resistance protein 5 functions as an ATP-dependent export pump for cyclic nucleotides. (PubMed id 10893247)^{1, 7, 9} Jedlitschky G....Keppler D. (2000)
Human skeletal muscle drug transporters determine loc al exposure and toxicity of statins. (PubMed id 19940267)^{1, 7, 9} Knauer M.J....Tirona R.G. (2010)
Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression. (PubMed id 17521428)^{1, 2} Stojic J.... Weber B.H. (2007)
pABC11 (also known as MOAT-C and MRP5), a member of the ABC family of proteins, has anion transporter activity but does not confer multidrug resistance when overexpressed in human embryonic kidney 293 cells. (PubMed id 10438534)^{1, 2} McAleer M.A.... Matthews N. (1999)
cDNA cloning of a short type of multidrug resistance protein homologue, SMRP, from a human lung cancer cell line. (PubMed id 9325169)^{1, 2} Suzuki T.... Saijo N. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10057	HGNC: 56	AceView: ABCC5	Ensembl:ENSG00000114770	euGenes: HUgn10057
ECgene: ABCC5	Kegg: 10057	H-InvDB: ABCC5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ABCC5	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ABCC5	Genetics and Cytogenetics in Oncology and Haematology
ABCMdb	http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O15440

Intellectual Property for ABCC5 gene
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Patent Information for ABCC5 gene:
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GeneCards and IP:
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ATP-binding cassette, sub-family C (CFTR/MRP), member 5

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ABCC5 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 5

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