ABCC8 ATP binding cassette subfamily C member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCC8provided by HGNC
Official Full Name: ATP binding cassette subfamily C member 8provided by HGNC
Primary source: HGNC:HGNC:59
See related: Ensembl:ENSG00000006071 MIM:600509; AllianceGenome:HGNC:59
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; PNDM3; TNDM2; SUR1delta2
Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, 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 in the ABCC8 gene and deficiencies in the encoded 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
Expression: Biased expression in brain (RPKM 4.8), adrenal (RPKM 3.5) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (17392498..17476845, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (17490094..17574439, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (17414045..17498392, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.
Title: Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.
Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy.
Title: Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy.
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
Title: An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
Dynamic duo: Kir6 and SUR in KATP channel structure and function.
Title: Dynamic duo: Kir6 and SUR in K(ATP) channel structure and function.
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
Title: Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8.
Title: Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8.
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
Title: Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Title: Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
Title: Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.
Title: The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.

Submit: New GeneRIF Correction See all GeneRIFs (221)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diabetes mellitus, permanent neonatal 3 MedGen: C5394303 OMIM: 618857 GeneReviews: Permanent Neonatal Diabetes Mellitus	not available
Diabetes mellitus, transient neonatal, 2 MedGen: C1835887 OMIM: 610374 GeneReviews: Not available	not available
Hyperinsulinemic hypoglycemia, familial, 1 MedGen: C2931832 OMIM: 256450 GeneReviews: Nonsyndromic Genetic Hyperinsulinism Overview	not available
Leucine-induced hypoglycemia MedGen: C0271714 OMIM: 240800 GeneReviews: Not available	not available
Permanent neonatal diabetes mellitus MedGen: C1833104 GeneReviews: Permanent Neonatal Diabetes Mellitus	not available
Type 2 diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S4388 (e-PCR)
- UniSTS:69401

RH36002 (e-PCR)
- UniSTS:11825

D11S2032 (e-PCR)
- UniSTS:27510

D11S902 (e-PCR), detects polymorphism
- UniSTS:31863

Abcc8 (e-PCR), detects polymorphism
- UniSTS:144525

D11S2032 (e-PCR)
- UniSTS:16826

D11S2282E (e-PCR)
- UniSTS:73680

SHGC-144482 (e-PCR)
- UniSTS:172263

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ADP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
contributes_to ATP-activated inward rectifier potassium channel activity	NAS Non-traceable Author Statement more info	PubMed
enables ATP-activated inward rectifier potassium channel activity	TAS Traceable Author Statement more info
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfonylurea receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in action potential	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in glutamate secretion, neurotransmission	IEA Inferred from Electronic Annotation more info
involved_in inorganic cation transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood-brain barrier permeability	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of glial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of low-density lipoprotein particle clearance	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuroblast migration	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tight junction disassembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of uterine smooth muscle relaxation	IEA Inferred from Electronic Annotation more info
involved_in potassium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to pH	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of inward rectifying potassium channel	IDA Inferred from Direct Assay more info	PubMed
part_of inward rectifying potassium channel	IPI Inferred from Physical Interaction more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of potassium ion-transporting ATPase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ATP-binding cassette sub-family C member 8

Names: ATP-binding cassette transporter sub-family C member 8; ATP-binding cassette, sub-family C (CFTR/MRP), member 8; sulfonylurea receptor (hyperinsulinemia); sulfonylurea receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008867.1 RefSeqGene

Range

5058..89018

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_790

mRNA and Protein(s)

NM_000352.6 → NP_000343.2 ATP-binding cassette sub-family C member 8 isoform 2

See identical proteins and their annotated locations for NP_000343.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 3. The encoded isoform (2) is shorter than isoform 3. Isoforms 2 and 4 are the same length but differ in sequence.

Source sequence(s)

AC124798, AF087138, BM313666, BM352492, R84665

Consensus CDS

CCDS31437.1

UniProtKB/Swiss-Prot

A6NMX8, E3UYX6, O75948, Q09428, Q16583

UniProtKB/TrEMBL

A0A2R8Y4Z4

Related

ENSP00000374467.4, ENST00000389817.8

Conserved Domains (1) summary

TIGR00957
Location:224 → 1578

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_001287174.3 → NP_001274103.1 ATP-binding cassette sub-family C member 8 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses two alternate in-frame splice sites in the 5' coding region compared to variant 3. The encoded isoform (1) is shorter than isoform 3

Source sequence(s)

AC124798, AF087138, BM313666, BM352492, BU950000, R84665

Consensus CDS

CCDS73264.1

UniProtKB/TrEMBL

A0A2R8Y4Z4

Related

ENSP00000303960.4, ENST00000302539.9

Conserved Domains (3) summary

TIGR01271
Location:223 → 1582

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:1017 → 1295

ABC_membrane; ABC transporter transmembrane region

cl21455
Location:1343 → 1582

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001351295.2 → NP_001338224.1 ATP-binding cassette sub-family C member 8 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (3).

Source sequence(s)

AC124798

Consensus CDS

CCDS86183.1

UniProtKB/TrEMBL

A0A2R8Y4V0, A0A2R8Y4Z4

Related

ENSP00000494321.1, ENST00000644772.1

Conserved Domains (1) summary

cl26602
Location:224 → 1600

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001351296.2 → NP_001338225.1 ATP-binding cassette sub-family C member 8 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) encodes isoform (4). Isoforms 2 and 4 are the same length but differ in sequence.

Source sequence(s)

AC124798

Consensus CDS

CCDS86185.1

UniProtKB/TrEMBL

A0A2R8Y4Z4, A0A2R8Y5D8

Related

ENSP00000494450.1, ENST00000643260.1

Conserved Domains (1) summary

cl26602
Location:224 → 1578

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001351297.2 → NP_001338226.1 ATP-binding cassette sub-family C member 8 isoform 5

Status: REVIEWED

Source sequence(s)

AC124798

Consensus CDS

CCDS86184.1

UniProtKB/TrEMBL

A0A2R8Y4Z4, A0A2R8YDG0

Related

ENSP00000493749.1, ENST00000642271.1

Conserved Domains (1) summary

cl26602
Location:224 → 1577

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]