GenTIGS

ATP binding cassette subfamily G member 8 (ABCG8) Associated conditions: 1. Sitosterolemia

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_001357321.2	NP_001344250.1	NC_000002.12	(43838970..43882987)	Reference GRCh38.p14 Primary Assembly	Q9H221
2	REVIEWED	NM_022437.3	NP_071882.1	NC_000002.12	(43838970..43882987)	Reference GRCh38.p14 Primary Assembly	Q9H221

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 1133 reference articles

Variant Information ATP binding cassette subfamily G member 8 (ABCG8) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene ATP binding cassette subfamily G member 8 (ABCG8)

ClinVar variants:Revealing mutagenic patterns

GO Term of ATP binding cassette subfamily G member 8 (ABCG8)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	16870176 32296183
2	Homo sapiens	IDA	contributes_to	ATP binding	Function	16893193
3	Homo sapiens	IBA	is_active_in	plasma membrane	Component	21873635
4	Homo sapiens	ISS	located_in	plasma membrane	Component	-
5	Homo sapiens	TAS	located_in	plasma membrane	Component	-
6	Homo sapiens	IEA	involved_in	response to nutrient	Process	-
7	Homo sapiens	IEA	involved_in	response to xenobiotic stimulus	Process	-
8	Homo sapiens	IMP	involved_in	negative regulation of intestinal phytosterol absorption	Process	11099417
9	Homo sapiens	IEA	involved_in	response to muscle activity	Process	-
10	Homo sapiens	IEA	involved_in	phospholipid transport	Process	-
11	Homo sapiens	ISS	involved_in	sterol transport	Process	-
12	Homo sapiens	IMP	located_in	apical plasma membrane	Component	14504269
13	Homo sapiens	ISS	located_in	apical plasma membrane	Component	-
14	Homo sapiens	IDA	contributes_to	ATP hydrolysis activity	Function	16893193
15	Homo sapiens	IC	involved_in	intestinal cholesterol absorption	Process	12208868
16	Homo sapiens	IBA	involved_in	cholesterol efflux	Process	21873635
17	Homo sapiens	IGI	involved_in	cholesterol efflux	Process	14504269
18	Homo sapiens	IMP	involved_in	cholesterol efflux	Process	27144356
19	Homo sapiens	IEA	involved_in	bile acid signaling pathway	Process	-
20	Homo sapiens	IBA	enables	ATPase-coupled transmembrane transporter activity	Function	21873635
21	Homo sapiens	IDA	enables	ATPase-coupled transmembrane transporter activity	Function	27144356
22	Homo sapiens	IBA	involved_in	cholesterol homeostasis	Process	21873635
23	Homo sapiens	IMP	involved_in	cholesterol homeostasis	Process	11099417 27144356
24	Homo sapiens	IDA	part_of	ATP-binding cassette (ABC) transporter complex	Component	16893193 27144356
25	Homo sapiens	IBA	part_of	receptor complex	Component	21873635
26	Homo sapiens	IDA	part_of	receptor complex	Component	14504269
27	Homo sapiens	IMP	involved_in	negative regulation of intestinal cholesterol absorption	Process	11099417
28	Homo sapiens	IEA	enables	metal ion binding	Function	-
29	Homo sapiens	IPI	enables	protein heterodimerization activity	Function	16870176
30	Homo sapiens	IBA	involved_in	transmembrane transport	Process	21873635
31	Homo sapiens	IEA	involved_in	triglyceride homeostasis	Process	-
32	Homo sapiens	IEA	involved_in	intermembrane lipid transfer	Process	-
33	Homo sapiens	IBA	contributes_to	cholesterol transfer activity	Function	21873635
34	Homo sapiens	IGI	contributes_to	cholesterol transfer activity	Function	14504269
35	Homo sapiens	IEA	enables	ABC-type transporter activity	Function	-