GenTIGS

ATP binding cassette subfamily C member 8 (ABCC8) Associated conditions: 1. Hyperinsulinemic hypoglycemia, familial, 1 2. Neonatal diabetes mellitus

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000352.6	NP_000343.2	NC_000011.10	(17392497..17476844, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001287174.3	NP_001274103.1	NC_000011.10	(17392497..17476844, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001351295.2	NP_001338224.1	NC_000011.10	(17392497..17476844, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001351296.2	NP_001338225.1	NC_000011.10	(17392497..17476844, complement)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_001351297.2	NP_001338226.1	NC_000011.10	(17392497..17476844, complement)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NR_147094.2	-	NC_000011.10	(17392497..17476844, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1296 reference articles

Variant Information ATP binding cassette subfamily C member 8 (ABCC8) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene ATP binding cassette subfamily C member 8 (ABCC8)

ClinVar variants:Revealing mutagenic patterns

GO Term of ATP binding cassette subfamily C member 8 (ABCC8)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IEA	involved_in	intracellular glucose homeostasis	Process	-
3	Homo sapiens	IMP	enables	potassium channel activity	Function	24814349 25720052 26181369
4	Homo sapiens	IPI	enables	protein binding	Function	19805355
5	Homo sapiens	IEA	enables	ATP binding	Function	-
6	Homo sapiens	TAS	enables	ATP binding	Function	-
7	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
8	Homo sapiens	IEA	located_in	plasma membrane	Component	-
9	Homo sapiens	TAS	located_in	plasma membrane	Component	-
10	Homo sapiens	IEA	involved_in	potassium ion transport	Process	-
11	Homo sapiens	TAS	involved_in	potassium ion transport	Process	7502040
12	Homo sapiens	IEA	involved_in	female pregnancy	Process	-
13	Homo sapiens	IEA	involved_in	memory	Process	-
14	Homo sapiens	IEA	enables	sulfonylurea receptor activity	Function	-
15	Homo sapiens	IDA	part_of	inward rectifying potassium channel	Component	20610380
16	Homo sapiens	IEA	part_of	inward rectifying potassium channel	Component	-
17	Homo sapiens	IEA	involved_in	visual learning	Process	-
18	Homo sapiens	IEA	involved_in	response to pH	Process	-
19	Homo sapiens	IEA	involved_in	response to xenobiotic stimulus	Process	-
20	Homo sapiens	IEA	involved_in	response to zinc ion	Process	-
21	Homo sapiens	IEA	involved_in	negative regulation of low-density lipoprotein particle clearance	Process	-
22	Homo sapiens	NAS	contributes_to	ATP-activated inward rectifier potassium channel activity	Function	28842488
23	Homo sapiens	TAS	enables	ATP-activated inward rectifier potassium channel activity	Function	-
24	Homo sapiens	IEA	located_in	membrane	Component	-
25	Homo sapiens	IEA	involved_in	negative regulation of angiogenesis	Process	-
26	Homo sapiens	IEA	enables	ATP hydrolysis activity	Function	-
27	Homo sapiens	IDA	enables	ATPase-coupled monoatomic cation transmembrane transporter activity	Function	26181369
28	Homo sapiens	ISS	enables	ATPase-coupled monoatomic cation transmembrane transporter activity	Function	-
29	Homo sapiens	IEA	located_in	synaptic vesicle membrane	Component	-
30	Homo sapiens	ISS	part_of	potassium ion-transporting ATPase complex	Component	-
31	Homo sapiens	IEA	involved_in	response to lipopolysaccharide	Process	-
32	Homo sapiens	IEA	involved_in	positive regulation of tumor necrosis factor production	Process	-
33	Homo sapiens	IEA	involved_in	response to insulin	Process	-
34	Homo sapiens	IEA	involved_in	positive regulation of insulin secretion involved in cellular response to glucose stimulus	Process	-
35	Homo sapiens	IEA	located_in	sarcolemma	Component	-
36	Homo sapiens	IEA	is_active_in	presynaptic membrane	Component	-
37	Homo sapiens	IEA	involved_in	positive regulation of potassium ion transport	Process	-
38	Homo sapiens	IEA	enables	ADP binding	Function	-
39	Homo sapiens	IPI	enables	transmembrane transporter binding	Function	20610380
40	Homo sapiens	IEA	involved_in	negative regulation of insulin secretion	Process	-
41	Homo sapiens	IEA	enables	metal ion binding	Function	-
42	Homo sapiens	IEA	involved_in	negative regulation of neurogenesis	Process	-
43	Homo sapiens	TAS	involved_in	regulation of insulin secretion	Process	-
44	Homo sapiens	IBA	involved_in	transmembrane transport	Process	-
45	Homo sapiens	IEA	involved_in	transmembrane transport	Process	-
46	Homo sapiens	ISS	involved_in	transmembrane transport	Process	-
47	Homo sapiens	IEA	involved_in	negative regulation of glial cell proliferation	Process	-
48	Homo sapiens	IEA	involved_in	negative regulation of neuroblast migration	Process	-
49	Homo sapiens	NAS	involved_in	potassium ion transmembrane transport	Process	28842488
50	Homo sapiens	IBA	enables	ABC-type transporter activity	Function	-
51	Homo sapiens	IEA	enables	ABC-type transporter activity	Function	-
52	Homo sapiens	IEA	involved_in	positive regulation of uterine smooth muscle relaxation	Process	-
53	Homo sapiens	IEA	involved_in	positive regulation of tight junction disassembly	Process	-
54	Homo sapiens	IEA	involved_in	negative regulation of blood-brain barrier permeability	Process	-
55	Homo sapiens	ISS	involved_in	potassium ion import across plasma membrane	Process	-