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ABCC8 Gene

protein-coding GIFtS: 69

GC11M017373

ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: SUR, HRINS)

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

Aliases
ABC36 ^¹, ²
HHF1 ^¹, ², ⁵
HI ^¹, ²
HRINS ^², ³
MRP8 ^¹, ²
PHHI ^¹, ², ⁵
SUR ^², ³, ⁵
SUR1 ^¹, ², ³, ⁵
TNDM2 ^¹, ², ⁵

Descriptions
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ^²
ATP-binding cassette, sub-family C, member 8 ^²
Sulfonylurea receptor 1 ^³
sulfonylurea receptor (hyperinsulinemia) ^²

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

Search outside databases for aliases for ABCC8 gene

Previous GC identifers: GC11M018553 GC11M018356 GC11M017453 GC11M017378

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ABCC8 gene

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)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M017373: (about GC identifiers)

Start:	17,371,008 bp from pter
End:	17,455,025 bp from pter
Size:	84,018 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_009237.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428 (See protein sequence)

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

Size: 1581 amino acids; 177008 Da

Subunit: Associates with KCNJ11

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: A6NMX8 O75948 Q16583

Alternative splicing: 2 isoforms: Q09428-1 Q09428-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000343.2

ENSEMBL proteins:

ENSP00000368807 ENSP00000303960 ENSP00000374467

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (SUR1)
	Human Recombinant Proteins from Abnova (ABCC8)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for ABCC8:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ABCC8
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (SUR1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ABCC8)
	Novus Biologicals Antibodies for ABCC8

Assays for ABCC8:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCC8)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCC8)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000352

Applied Biosystems Silencer® siRNAs for ABCC8

Sigma-Aldrich siRNA and siRNA Panels for ABCC8

Sigma-Aldrich shRNA for ABCC8

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000352
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000352
untagged cDNA clone in CMV expression vector: NM_000352

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000352

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

4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Abcc8):

digestive/alimentary

endocrine/exocrine gland

homeostasis/metabolism

no phenotypic analysis

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004872	receptor activity	IEA	--
GO:0005524	ATP binding	TAS	7502040
GO:0008281	sulfonylurea receptor activity	TAS	7502040
GO:0015079	potassium ion transmembrane transporter activity	TAS	7502040

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for ABCC8 (Your Favorite Gene powered by Ingenuity)

Type II Diabetes Mellitus Signaling

GeneDecks ABCC8 for the pathways selected above

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

5/37 Interacting proteins for ABCC8 (ENSP00000303960³) via UniProtKB, MINT, and/or STRING (see all 37 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KCNJ11	ENSP00000345708³	STRING (score=.999)
KCNJ8	ENSP00000240662³	STRING (score=.986)
FOXA2	ENSP00000366319³	STRING (score=.979)
INS	ENSP00000370731³	STRING (score=.97)
GCG	ENSP00000364647³	STRING (score=.954)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	NAS	7716548
GO:0006810	transport	IEA	--
GO:0006813	potassium ion transport	TAS	7502040

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ABCC8
10/33 Novoseek chemical compound relationships for ABCC8 gene (see all 33 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
sulfonylurea	98.19	667	17561960 (8), 17593344 (4), 17213273 (4), 11343328 (4) (see all 99)
katp	96.66	451	10419549 (4), 18708750 (4), 11226335 (4), 15893323 (4) (see all 99)
mgadp	91.03	48	16373383 (3), 10993895 (3), 18715873 (2), 12562963 (2) (see all 31)
potassium	84.83	226	14707124 (3), 12496311 (2), 10506167 (2), 8607800 (2) (see all 99)
mgatp	77.09	19	15962003 (4), 10993895 (3), 17395632 (2), 19237428 (2) (see all 10)
atp	73.89	213	10206966 (4), 17510180 (4), 10601323 (3), 10581363 (3) (see all 92)
8-azido-atp	73.38	8	10601323 (2), 10993895 (2), 10833411 (1), 10570926 (1)
glucose	61.00	65	11272143 (3), 15579791 (3), 11289470 (2), 11145575 (2) (see all 40)
adp	59.84	19	11073882 (4), 10893240 (2), 10581363 (2), 10601323 (1) (see all 12)
dicyandiamide	58.33	1	15561900 (1)

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3 PharmGKB drug compound relationships for ABCC8 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
antiarrhythmics	FA	8630239
diazoxide	FA	8630239
tolbutamide	PD	9568693

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCC8)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCC8)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000352

Sigma-Aldrich siRNA and siRNA Panels for ABCC8

Sigma-Aldrich shRNA for ABCC8

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000352

REFSEQ mRNAs for ABCC8 gene:

NM_000352.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000352

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000352
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000352
                                 untagged cDNA clone in CMV expression vector: NM_000352

Additional cDNA sequence:

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

18 DOTS entries:

DT.100045073 DT.97776554 DT.100022514 DT.40274314 DT.100658976 DT.100016478 DT.100045078 DT.100000529

DT.100045075 DT.95290482 DT.425848 DT.100045074 DT.100658979 DT.92423014 DT.95127105 DT.99937129

DT.99954317 DT.100045079

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

AA321670 BM352807 BQ417341 AA989322 BU074847 CA867782 BQ778221 CA773641

BU076098 BU950502 AA878719 BU949797 BQ778169 BU950622 BU069854 BQ631299

BM313666 BU069050 BM309932 BE222891 BQ267930 W60943 CA775057 BE220627

highest scoring ESTs for ABCC8:

AF087138 BM545480 L78207 U63421 AA321670 AA878719 AA916790 AA938399 AA976083 AB209084

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

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for ABCC8

3 Ensembl transcripts including schematic representations:

ENST00000379493 ENST00000302539 ENST00000389817

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ABCC8 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCC8

¹ / ² / ³

5 probe-sets matching ABCC8 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
53377_at²^{, 3}	U95-B	1	1.00	1.00	0.89	0.99	AI682807	0.60	1.00	0.82	1
53384_g_at²^{, 3}	U95-B	1	1.00	1.00	0.90	0.76	AI682807	0.60	1.00	0.82	1
41792_at²^{, 3}	U95-A	2	1.00	0.97	0.93	1.30	L78243	0.20	1.00	0.72	1
210246_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF087138	0.80	1.00	0.91	1
210246_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ABCC8 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCCACGGAAA

SOURCE GeneReport for Unigene cluster: Hs.54470
Expression variation in blood from EXPOLDB for ABCC8

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABCC8 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCC8¹	--	ATP-binding cassette, sub-family C (CFTR/MRP), member more	90.67(n) 94.43(a)	485402 XM_542520.2 XP_542520.2
chimpanzee (Pan troglodytes)	ABCC8¹	--	ATP-binding cassette, sub-family C (CFTR/MRP), member more	98.88(n) 98.9(a)	451056 XM_508310.2 XP_508310.2
cow (Bos taurus)	ABCC8¹	--	ATP-binding cassette, sub-family C (CFTR/MRP), member more	92.18(n) 96.27(a)	538996 XM_584132.3 XP_584132.3
rat (Rattus norvegicus)	Abcc8¹	--	ATP-binding cassette, sub-family C (CFTR/MRP), member more	89.18(n) 95.38(a)	25559 NM_013039.1 NP_037171.1
mouse (Mus musculus)	Abcc8^{1, 5}	7 (41.00 cM)⁵	ATP-binding cassette, sub-family C (CFTR/MRP), member more^{1, 5}	89.6(n)¹ 95.51(a)¹	20927¹ NM_011510.3¹ NP_035640.2¹ AA419733⁵ AF037274⁵ (see all 49)

About this table Species with no ortholog for ABCC8

ENSEMBL Gene Tree for ABCC8

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

Paralogs for ABCC8 gene

ABCC10² CFTR² ABCC9²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/640 NCBI SNPs in ABCC8 are shown (see all 640 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 276)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2188966^1,2	A,C,F,H	17456461(-)	`ACACAG/AACTCA`	1	--	ng3¹		13		EU EA WA	1992
	rs757110^1,2	A,C,F,H	17375053(-)	`TCATCG/TCCCCT`	1	A/S	mis¹		9		EA NA EU WA	1495
	rs3758953^1,2	A,C,F,H	17456123(-)	`GTCTTT/CCTTTT`	1	--	ng3¹ trp³		5		EA EU WA	1912
--	rs8192690^1,2	C,F,H	17371146(-)	`ACAGCG/ATCTTC`	1	I/V	mis¹ ese³		5		EU EA WA	1341
	rs1048095^1,2	C,H	17439854(+)	`TGGACA/GGCAGA`	1	L/P	mis¹ ese³		5		MN EU EA WA	590
--	rs7112030^1,2	A,C	17370521(+)	`attgtA/Gtcctg`	1	--	ng5¹		0	--	--	--	--
--	rs7112138^1,2	A,C	17370589(+)	`tgtgaA/Ggagat`	1	--	ng5¹		0	--	--	--	--
	rs1048098^1,2	C,H	17441671(+)	`CAAGAA/GCTTGA`	1	F/L	mis¹		5		MN EU EA WA	588
--	rs34731885^1,2	C	17455960(+)	`TATACA/GTTTTG`	1	--	ng3¹		0	--	--	--	--
	rs1048094^1,2	C	17439761(+)	`TCATGG/ACGATG`	1	V/A	mis¹		1		MN	184

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HapMap Linkage Disequilibrium images for ABCC8 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 600509 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

called 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

hyperinsulinism. HHF1 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 permanent neonatal diabetes mellitus (PNDM) [MIM:606176];

also called permanent diabetes mellitus of infancy (PDMI). PNDM is a rare form of diabetes

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

Defects in ABCC8 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also

known as diabetes mellitus type 2, in Northern European Caucasians

10/31 Novoseek disease relationships for ABCC8 gene (see all 31 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperinsulinism	93.49	93	12941782 (3), 18796520 (3), 11272143 (3), 15579781 (2) (see all 49)
neonatal diabetes mellitus	89.12	16	17317760 (2), 16885549 (1), 17923772 (1), 18497752 (1) (see all 11)
hypoglycemia	81.66	41	2166699 (3), 8314007 (2), 10615958 (2), 10334322 (2) (see all 23)
nesidioblastosis	64.68	3	9130925 (1), 11912517 (1)
insulinoma	62.87	3	9166666 (1), 10928959 (1), 1634534 (1)
niddm	59.81	70	11692183 (4), 9519757 (4), 9075812 (3), 11343328 (3) (see all 26)
developmental delay	56.48	3	17389331 (1), 16613899 (1)
hyperglycemia	50.52	7	9075812 (1), 17389331 (1), 10819247 (1), 17207885 (1) (see all 5)
hyperammonemia	47.42	2	17003566 (1), 9130925 (1)
hyperinsulinemia	44.80	9	9799081 (2), 8028500 (1), 16416420 (1), 11030411 (1) (see all 5)

About this table

1 PharmGKB disease relationship for ABCC8 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
NIDDM (non insulin dependent diabetes mellitus)	PD	9568693

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GeneTests: ABCC8

Familial Hyperinsulinism

Human Gene Mutation Database: ABCC8
Genetic Association Database: ABCC8
Human Genome Epidemiology Navigator: ABCC8 (31 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/473 PubMed articles for ABCC8 gene (see all 473 ):

Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. (PubMed id 9568693)^{1, 3, 4, 7} Hansen T.... Pedersen O. (1998)
Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. (PubMed id 8635661)^{1, 3, 4, 6} 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, 4} Thomas P.M....Bryan J. (1995)
A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. (PubMed id 8630239)^{1, 3, 7} Inagaki N....Seino S. (1996)
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, 3, 4} Tanizawa Y.... Oka Y. (2000)
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (PubMed id 16613899)^{1, 3, 4} Proks P.... Ellard S. (2006)
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, 3, 6} van Dam R.M....Feskens E.J. (2005)
[Study on association between gestational diabetes mellitus and sulfonylurea receptor-1 gene polymorphism] (PubMed id 15840308)^{1, 3, 6} Niu X.M....Zhang Y. (2005)
Membrane topology of the amino-terminal region of the sulfonylurea receptor. (PubMed id 10506167)^{1, 3, 4} Raab-Graham K.F....Vandenberg C.A. (1999)
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PubMed id 16885549)^{1, 3, 4} Babenko A.P.... Froguel P. (2006)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 6833	HGNC: 59	AceView: ABCC8	Ensembl:ENSG00000006071	euGenes: HUgn6833
ECgene: ABCC8	H-InvDB: ABCC8

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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ABCC8 Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for ABCC8

Summaries
for ABCC8

Genomic Location
for ABCC8

Proteins
for ABCC8

Protein Domains/
Families
for ABCC8

Gene Function
for ABCC8

Pathways & Interactions
for ABCC8

Drugs & Compounds
for ABCC8

Transcripts
for ABCC8

Expression
for ABCC8

Orthologs
for ABCC8

Paralogs
for ABCC8

SNPs/Variants
for ABCC8

Disorders & Mutations
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Medical News
for ABCC8

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for ABCC8

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Genome Databases showing ABCC8

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCC8 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor ABCC8

Summariesfor ABCC8

Genomic Locationfor ABCC8

Proteinsfor ABCC8

Protein Domains/Familiesfor ABCC8

Gene Functionfor ABCC8

Pathways & Interactionsfor ABCC8

Drugs & Compoundsfor ABCC8

Transcriptsfor ABCC8

Expression for ABCC8

Orthologsfor ABCC8

Paralogsfor ABCC8

SNPs/Variantsfor ABCC8

Disorders & Mutationsfor ABCC8

Medical Newsfor ABCC8

Publicationsfor ABCC8

Search for ABCC8

Genome Databases showing ABCC8

Other Databases showing ABCC8

Specialized Databases showing ABCC8

Licensable Technologiesfor ABCC8

Servicesfor ABCC8

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ABCC8

Summaries
for ABCC8

Genomic Location
for ABCC8

Proteins
for ABCC8

Protein Domains/
Families
for ABCC8

Gene Function
for ABCC8

Pathways & Interactions
for ABCC8

Drugs & Compounds
for ABCC8

Transcripts
for ABCC8

Expression
for ABCC8

Orthologs
for ABCC8

Paralogs
for ABCC8

SNPs/Variants
for ABCC8

Disorders & Mutations
for ABCC8

Medical News
for ABCC8

Publications
for ABCC8

Licensable Technologies
for ABCC8

Services
for ABCC8