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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABCC8 Gene

protein-coding GIFtS: 68
GCID: GC11M017414

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

(Previous symbols: SUR, HRINS)

Explore 46 diseases affiliated with
ABCC8 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 8¹ ²		HI¹ ²
SUR¹ ² ³ ⁵		MRP8¹ ²
SUR1¹ ² ³ ⁵		Sulfonylurea Receptor 1² ³
HRINS¹ ² ³		SUR1delta2²
HHF1¹ ² ⁵		ATP-Binding Cassette Sub-Family C Member 8²
PHHI¹ ² ⁵		ATP-Binding Cassette Transporter Sub-Family C Member 8²
TNDM2¹ ² ⁵		Sulfonylurea Receptor (Hyperinsulinemia)²
ABC36¹ ²

External Ids:	HGNC: 59¹	Entrez Gene: 6833²	Ensembl: ENSG00000006071⁷	OMIM: 600509⁵	UniProtKB: Q09428³

Export aliases for ABCC8 gene to outside databases

Previous GC identifers: GC11M018553 GC11M018356 GC11M017453 GC11M017378 GC11M017373 GC11M017098

(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 ABCC8:

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 as a modulator of ATP-sensitive potassium channels

and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic

hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have

also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective

insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been

fully described. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428

Function: Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+)

channels and insulin release

Gene Wiki entry for ABCC8

(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_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABCC8 gene promoter:
GR Max1 CREB AML1a Sp1 GR-beta GR-alpha Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABCC8 promoter sequence

Search SABiosciences Chromatin IP Primers for ABCC8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC8

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

Entrez Gene cytogenetic band: 11p15.1 Ensembl cytogenetic band: 11p15.1 HGNC cytogenetic band: 11p15.1

ABCC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC8 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M017414: view genomic region (about GC identifiers)

Start:	17,414,432 bp from pter	End:	17,498,449 bp from pter
Size:	84,018 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: ABCC8_HUMAN, Q09428 (See protein sequence)

Recommended Name: ATP-binding cassette sub-family C member 8

Size: 1581 amino acids; 176992 Da

Subunit: Interacts with KCNJ11

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: A6NMX8 E3UYX6 O75948 Q16583

Alternative splicing: 3 isoforms: Q09428-1 Q09428-2 Q09428-3 (Abundant isoform with prodiabetic properties, predominant in heart)

Explore the universe of human proteins at neXtProt for ABCC8: NX_Q09428

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q09428

ABCC8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000343.2

ENSEMBL proteins:

ENSP00000435378 ENSP00000374467 ENSP00000437233 ENSP00000433638 ENSP00000431653

ENSP00000434893 ENSP00000303960

Reactome Protein details: Q09428
Human Recombinant Protein Products:

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	Uscn Proteins for ABCC8

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0008076	voltage-gated potassium channel complex	IDA	--
GO:0016021	integral to membrane	--	--
GO:0030672	synaptic vesicle membrane	--	--
GO:0042383	sarcolemma	--	--

ABCC8 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ABCC8

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

ABCC8 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR003439 ABC_transporter-like

IPR001140 ABC_transptr_TM_dom

IPR003593 AAA+_ATPase

IPR000388 Sulphorea_rcpt

IPR017940 ABC_transporter_type1

Graphical View of Domain Structure for InterPro Entry Q09428

ProtoNet protein and cluster: Q09428

2 Blocks protein families:

IPB000388 Sulphonylurea receptor family signature

IPB000844 Sulphonylurea receptor type 1 family signature

UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428

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: ABCC8_HUMAN, Q09428

Function: Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+)

channels and insulin release

Genatlas biochemistry entry for ABCC8:

ATP-binding cassette superfamily,subfamily C (CFTR/MRP),member 8,expressed in beta cell of the pancreatic islet

(IKATP),maybe a minor contributor of NIDDM and obesity in French Caucasians,and hyperinsulinemia in non diabetic

Mexican Americans

miRNA Products:		OriGene 3'-UTR Clone: ABCC8 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCC8
		1 QIAGEN miScript miRNA Assays for microRNA that regulate ABCC8:
		hsa-miR-582-5p
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCC8 (see all 7) OriGene shRNA RFP: ABCC8 OriGene siRNA: ABCC8
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCC8

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ABCC8

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC8

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005267	potassium channel activity	--	--
GO:0005524	ATP binding	IEA	--
GO:0008281	sulfonylurea receptor activity	IEA	--
GO:0015079	potassium ion transmembrane transporter activity	TAS	7502040
GO:0019905	syntaxin binding	--	--

ABCC8 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ABCC8:

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-outs for ABCC8: Abcc8^tm1Jbry Abcc8^tm1.1Mgn
3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Abcc8):

endocrine/exocrine gland

homeostasis/metabolism

no phenotypic analysis

ABCC8 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 - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Potassium Channels

Potassium Channels

1.00

Potassium transporters: outward current

0.42

Regulation of Insulin Secretion

Regulation of Insulin Secretion

1.00

Integration of energy metabolism

0.74

Type II diabetes mellitus

Type II diabetes mellitus

1.00

Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

0.38

ABC-family proteins mediated transport

ABC-family proteins mediated transport

1.00

ABC transporters

0.70

Development_Leptin signaling via PI3K-dependent pathway

Development Leptin signaling via PI3K-dependent pathway

1.00

Development_Leptin signaling via PI3K-dependent pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for ABCC8

	Potassium transporters- outward current
	Development Leptin signaling via PI3K-dependent pathway

1 GeneGo (Thomson Reuters) Pathway for ABCC8

Development Leptin signaling via PI3K-dependent pathway

1 BioSystems Pathway for ABCC8

FOXA2 and FOXA3 transcription factor networks

5/9 Reactome Pathways for ABCC8 (see all 9)

	Metabolism
	Regulation of Insulin Secretion
	Integration of energy metabolism
	Neuronal System
	Inwardly rectifying K+ channels

2 PharmGKB Pathways for ABCC8

	Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
	Antiarrhythmic Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for ABCC8):

	ABC transporters
	Type II diabetes mellitus

ABCC8 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ABCC8

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/15 Interacting proteins for ABCC8 (Q09428³ ENSP00000374467⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSA	O43768³, ENSP00000341743⁴	I2D: score=2 STRING: ENSP00000341743
KCNJ11	Q14654³, ENSP00000345708⁴	I2D: score=1 STRING: ENSP00000345708
KCNJ8	Q15842³, ENSP00000240662⁴	I2D: score=1 STRING: ENSP00000240662
CRYBB1	P53674³, ENSP00000215939⁴	I2D: score=2 STRING: ENSP00000215939
RAPGEF4	Q8WZA2³, ENSP00000380271⁴	I2D: score=1 STRING: ENSP00000380271

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	NAS	7716548
GO:0006112	energy reserve metabolic process	TAS	--
GO:0006813	potassium ion transport	TAS	7502040
GO:0007268	synaptic transmission	TAS	--
GO:0009268	response to pH	--	--

ABCC8 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

ABCC8 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ABCC8

1 HMDB Compound for ABCC8 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--

10/13 DrugBank Compounds for ABCC8 (see all 13) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Glyburide	Apo-Glibenclamide (see all 4)	10238-21-8	target	modulator	12213059 12213829 9990013 12145099 12031979 12107069
Glycodiazine	Glidiazine (see all 2)	339-44-6	target	inducer	12213059 12213829 9990013 12145099 12031979 12107069
Nateglinide	Nateglinide [INN] (see all 2)	105816-04-4	target	inhibitor	12604678 11716850 10773014 12764427 11728565 12196472
Repaglinide	AG-EE 388 ZW (see all 4)	135062-02-1	target	inhibitor	15219283 11716850 10773014 15380228 11728565 12196472
Gliclazide	1-(3-Azabicyclo(3.3.0)oct-3-yl)-3-(p-tolylsulfonyl)urea (see all 5)	21187-98-4	target	binder	11484080 11078468 11574406 11078469 12475777
Glipizide	Glipizida [INN-Spanish] (see all 3)	29094-61-9	target	inhibitor	11484080 11078468 11574406 11078469 12475777
Gliquidone	--	33342-05-1	target	inhibitor	11484080 11078468 11574406 11078469 12475777
Glisoxepide	--	25046-79-1	target	inhibitor	11484080 11078468 11574406 11078469 12475777
Adenosine triphosphate	5'-ATP (see all 8)	56-65-5	target	--	17325510 17457130 16931986 16897043
Glimepiride	Glimepirid (see all 4)	93479-97-1	target	inducer	8172912 8529521 8911984

10/58 Novoseek chemical compound relationships for ABCC8 gene (see all 58) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sulfonylurea	98.1	692	17561960 (8), 17593344 (4), 17213273 (4), 11343328 (4) (see all 99)
katp	96.6	473	10419549 (4), 18708750 (4), 11226335 (4), 15893323 (4) (see all 99)
mgadp	91.2	49	16373383 (3), 10993895 (3), 18715873 (2), 12562963 (2) (see all 32)
diazoxide	90.5	30	11073882 (2), 8865068 (2), 11999683 (2), 14707124 (2) (see all 22)
tolbutamide	87.1	25	10526167 (3), 11289470 (3), 9350615 (3), 15678092 (2) (see all 14)
glibenclamide	86.7	85	11714894 (4), 15678092 (4), 12145099 (3), 16306272 (3) (see all 46)
potassium	84.9	237	14707124 (3), 12496311 (2), 10506167 (2), 8607800 (2) (see all 99)
repaglinide	79.5	22	15678092 (5), 15219283 (2), 10773014 (2), 16865362 (1) (see all 8)
mgatp	76.5	19	15962003 (4), 10993895 (3), 17395632 (2), 19237428 (2) (see all 10)
pinacidil	75.6	2	15561900 (1), 10407015 (1)

2 PharmGKB related drug/compound annotation for ABCC8 gene

Drug/compound	PharmGKB Annotation
repaglinide	CA

About this table

Search CenterWatch for drugs/clinical trials and news about ABCC8

(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 ABCC8 gene:

NM_000352.3

Unigene Cluster for ABCC8:

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

Hs.54470 [show with all ESTs]

Unigene Representative Sequence: NM_000352

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000526037 ENST00000531642 ENST00000389817 ENST00000526168 ENST00000525022

ENST00000532220 ENST00000528374 ENST00000527905 ENST00000531891 ENST00000531137

ENST00000524561 ENST00000526921 ENST00000529967 ENST00000530147 ENST00000531911

ENST00000532728(uc010rcy.1) ENST00000528202 ENST00000526002

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		hsa-miR-582-5p
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCC8

Additional cDNA sequence:

AB209084.1 AF087138.1 AK297560.1 HM635782.1 L40625.1 L78207.1 U63421.1

18 DOTS entries:

DT.100045073 DT.97776554 DT.100022514 DT.40274314 DT.100658976 DT.100000529 DT.100016478 DT.100045075

DT.100045078 DT.95290482 DT.100045074 DT.100658979 DT.92423014 DT.95127105 DT.99937129 DT.99954317

DT.100045079 DT.425848

24/251 AceView cDNA sequences (see all 251):

BE220627 BU785085 BQ270470 BM730046 BU949797 BU069106 CA772499 BM353210

BU785359 BU950622 BM504861 BU790038 W60943 CA771074 BU950000 CA775057

CA868541 CB068953 CA774798 BE218169 BE674412 CB069173 BQ786907 CA867782

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for ABCC8 (see all 15) About this scheme

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

ExUns:	17	^	18	^	19	^	20a	·	20b	·	20c	^	21	^	22a	·	22b	^	23	^	24	^	25a	·	25b	^	26	^	27	^	28a	·	28b	·	28c	^	29	^	30a	·	30b	^	31	^	32a	·	32b	·	32c	^	33	^
SP1:							-		-								-						-																										-
SP2:							-		-								-				-		-
SP3:							-		-
SP4:																	-						-
SP5:

ExUns:	34a	·	34b	·	34c	^	35	^	36a	·	36b	^	37a	·	37b	^	38	^	39a	·	39b
SP1:									-
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ABCC8

(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

ABCC8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCACGGAAA

About this image

ABCC8 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

beta-like cells (Derivation of beta c...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ABCC8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCC8

SOURCE GeneReport for Unigene cluster: Hs.54470

SABiosciences Expression via Pathway-Focused PCR Array including ABCC8:

Diabetes in human mouse rat

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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 ABCC8 gene from 7/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ABCC8¹	ATP-binding cassette, sub-family C (CFTR/MRP), member more	73.51(n) 82.83(a)		423072 XM_421005.3 XP_421005.2
lizard (Anolis carolinensis)	Reptilia	ABCC8⁶	--	83(a)	1 ↔ 1	1(66778470-66869515)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8858²	Xenopus laevis transcribed sequence with moderate similarity more	79.52(n)		BX844226.1
zebrafish (Danio rerio)	Actinopterygii	abcc8¹	ATP-binding cassette, sub-family C (CFTR/MRP), member more	71.48(n) 77.11(a)		553281 NM_001172647.2 NP_001166118.2
fruit fly (Drosophila melanogaster)	Insecta	Sur^{1 , 3}	heart development sulfonylurea receptor³ Sulfonylurea receptor¹	24(a)³ 47.12(n)¹ 34.6(a)¹		31B1³ 34350¹ NM_058124.3¹ NP_477472.2¹
thale cress (Arabidopsis thaliana)	eudicotyledons	ATMRP15⁶ ATMRP14⁶ (see all 11)	multidrug resistance-associated protein 14 (see all 11)	33(a) 27(a) (see all 11)	possible ortholog possible ortholog (see all 11)	3(22557535-22561716) 3(21863420-21868701)
rice (Oryza sativa)	Liliopsida	-- -- (see all 15)	ABC transporter, ATP-binding protein, putative (see all 15)	32(a) 32(a) (see all 15)	possible ortholog possible ortholog (see all 15)	11(2601649-2606448) 12(23038371-23044189)

ENSEMBL Gene Tree for ABCC8 (if available)
TreeFam Gene Tree for ABCC8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ABCC8 gene

ABCC4² ABCC12² ABCC1² ABCC10² CFTR² ABCC5² ABCC3² ABCC6²

ABCC2² ABCC11² ABCC9²

18/20 SIMAP similar genes for ABCC8 using alignment to 6 protein entries: ABCC8_HUMAN (see all proteins) (see all similar genes):

ABCC9 ABCB4 DKFZp434I2115 TAP1 CFTR MOAT-B

ABCC1 DKFZp781G125 NG-TRA ABCC12 ABCC2 ABCC4

ara ABCC5 ABCC11 ABCC3 ABC-transporter ABCC6

ABCC8 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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80356634^1,2	C	pathogenic	84051737(-)	`GCACAA/GCCTGC`	2	N S	mis¹		0	--	--	--	--
rs193929360^1,2	C	pathogenic	84051779(-)	`CCTGGC/G/TGTGTG`	3	A G V	mis¹		0	--	--	--	--
rs80356637^1,2	C	pathogenic	84056579(-)	`CCAACC/G/TTCCCC`	3	L V F	mis¹		0	--	--	--	--
rs137852672^1,2	C	pathogenic	84063278(-)	`GGAGGA/TCAATG`	2	D V	mis¹		0	--	--	--	--
rs80356640^1,2	C	pathogenic	84064957(-)	`GAGGAA/C/TCTGCA`	3	E D	mis¹ syn¹		1		NA	4552
rs80356642^1,2	C	pathogenic	84064968(-)	`AGACCG/TGGGGG`	2	R L	mis¹		0	--	--	--	--
rs1048095^1,2	C,F,H	pathogenic	84065004(-)	`TCTGCT/CGTCCA`	2	/P /L	mis¹ ese³		7		MN NS EA NA	594
rs80356651^1,2	C	pathogenic	84073584(-)	`CCATTA/GAAACT`	2	K E	mis¹		0	--	--	--	--
rs72559723^1,2	C	pathogenic	84099599(+)	`CGCAGA/C/G/T CCACC`	4	D A G V	mis¹		0	--	--	--	--
rs151344623^1,2	C	pathogenic	84129663(-)	`AGCCCG/AGCCCC`	1	--	int¹		1		EU	1313

HapMap Linkage Disequilibrium report for ABCC8 (17414432 - 17498449 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for ABCC8
7 CNVs: 48756 2165 48754 48755 48757 48753 48752
Human Gene Mutation Database (HGMD): ABCC8

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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

ABCC8 for disorders           About GeneDecksing

OMIM gene information: 600509
OMIM disorders: 256450  240800  610374  125853  606176
UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428

Defects in ABCC8 are a cause of leucine-induced hypoglycemia (LIH) [MIM:240800]; also known as

leucine-sensitive hypoglycemia of infancy. LIH is a rare cause of hypoglycemia and is described as a condition in

which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration

of oral or intravenous infusions of a single amino acid, leucine

Defects in ABCC8 are the cause of familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]; also

known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyperinsulinism. HHF is the most

common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin

secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is

extensive, often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain

damage from recurrent episodes of hypoglycemia may occur

Defects in ABCC8 are a cause of diabetes mellitus permanent neonatal (PNDM) [MIM:606176]. PNDM is a rare form

of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by

insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes

requires lifelong therapy

Defects in ABCC8 are the cause of transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]. Neonatal

diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months

of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence

20/46 diseases for ABCC8 (see all 46): About MalaCards

hyperinsulinemic hypoglycemia hypoglycemia of infancy diabetes mellitus hypoglycemia

diabetes mellitus, noninsulin-dependent leucine-sensitive hypoglycemia of infancy hyperinsulinemic hypoglycemia, familial, 1 persistent hyperinsulinemic hypoglycemia of infancy

neonatal diabetes mellitus permanent neonatal diabetes mellitus fanconi-bickel syndrome beckwith-wiedemann syndrome

diabetes, permanent neonatal transient neonatal diabetes mellitus autosomal dominant disease hyperinsulinism

type 2 diabetes mellitus hyperinsulinism, focal glucose intolerance usher syndrome

6 diseases from the University of Copenhagen DISEASES database for ABCC8:

Hyperinsulinemic hypoglycemia Hyperinsulinism Hypoglycemia Diabetes mellitus

Beckwith-Wiedemann syndrome Hyperglycemia

10/32 Novoseek disease relationships for ABCC8 gene (see all 32) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperinsulinism	93.8	98	12941782 (3), 18796520 (3), 11272143 (3), 15579781 (2) (see all 53)
neonatal diabetes mellitus	90.2	17	17317760 (2), 16885549 (1), 17923772 (1), 18497752 (1) (see all 12)
hypoglycemia	81.6	41	2166699 (3), 8314007 (2), 10615958 (2), 10334322 (2) (see all 23)
nesidioblastosis	63.6	3	9130925 (1), 11912517 (1)
insulinoma	62.9	3	9166666 (1), 10928959 (1), 1634534 (1)
developmental delay	59.6	3	17389331 (1), 16613899 (1)
niddm	59.3	70	11692183 (4), 9519757 (4), 9075812 (3), 11343328 (3) (see all 26)
hyperglycemia	49.6	7	9075812 (1), 17389331 (1), 10819247 (1), 17207885 (1) (see all 5)
hyperammonemia	49.5	2	17003566 (1), 9130925 (1)
ketoacidosis	47.2	1	17389331 (1)

GeneTests: ABCC8

Familial Hyperinsulinism

Permanent Neonatal Diabetes Mellitus

Genetic Association Database (GAD): ABCC8
Human Genome Epidemiology (HuGE) Navigator: ABCC8 (47 documents)

Export disorders for ABCC8 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)
About This Section

PubMed articles for ABCC8 gene, integrated from 9 sources (see all 570):
(articles sorted by number of sources associating them with ABCC8)

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Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. (PubMed id 8635661)^{1, 2, 4, 9} Inoue H.... Aguilar-Bryan L. (1996)
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. (PubMed id 7716548)^{1, 2, 3, 9} Thomas P.M.... Bryan J. (1995)
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. (PubMed id 10615958)^{1, 2, 9} Tanizawa Y.... Oka Y. (2000)
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (PubMed id 16613899)^{1, 2, 9} Proks P.... Ellard S. (2006)
[Study on association between gestational diabetes mellitus and sulfonylurea receptor-1 gene polymorphism] (PubMed id 15840308)^{1, 4, 9} Niu X.M....Zhang Y. (2005)
Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses. (PubMed id 15842514)^{1, 4, 9} van Dam R.M....Feskens E.J. (2005)
Membrane topology of the amino-terminal region of the sulfonylurea receptor. (PubMed id 10506167)^{1, 2, 9} Raab-Graham K.F....Vandenberg C.A. (1999)
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PubMed id 16885549)^{1, 2, 9} Babenko A.P.... Froguel P. (2006)
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. (PubMed id 12540637)^{1, 4, 9} Gloyn A.L....Frayling T.M. (2003)
Sulfonylurea receptor -1 (SUR1): genetic and metabolic evidences for a role in the susceptibility to type 2 diabetes mellitus. (PubMed id 11938023)^{1, 4, 9} Reis A.F. and Velho G. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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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: 6833	HGNC: 59	AceView: ABCC8	Ensembl:ENSG00000006071	euGenes: HUgn6833
ECgene: ABCC8	Kegg: 6833	H-InvDB: ABCC8

(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 ABCC8	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC8
ABCMdb	http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q09428

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ABCC8 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

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Hyperinsulinemia
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PITUITARY ADENOMA
Cystic Fibrosis
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insulin sensitivity
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Ischemia
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ABCC8 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

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