Abcg8 ATP binding cassette subfamily G member 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcg8provided by MGI
Official Full Name: ATP binding cassette subfamily G member 8provided by MGI
Primary source: MGI:MGI:1914720
See related: Ensembl:ENSMUSG00000024254 AllianceGenome:MGI:1914720
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: sterolin-2; 1300003C16Rik
Summary: Enables protein heterodimerization activity. Contributes to cholesterol transfer activity. Involved in cholesterol efflux and excretion. Acts upstream of or within cholesterol homeostasis and phospholipid transport. Located in apical plasma membrane. Is integral component of plasma membrane. Part of receptor complex. Is expressed in several structures, including Peyer's patch; alimentary system; brain; liver and biliary system; and thymus. Used to study sitosterolemia. Human ortholog(s) of this gene implicated in arteriosclerosis; familial hyperlipidemia; gallbladder disease; obesity; and sitosterolemia. Orthologous to human ABCG8 (ATP binding cassette subfamily G member 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in duodenum adult (RPKM 61.1), small intestine adult (RPKM 52.2) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E4; 17 55.02 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (84983730..85007761)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (84676302..84700333)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ABCG5 and ABCG8 Are Involved in Vitamin K Transport.
Title: ABCG5 and ABCG8 Are Involved in Vitamin K Transport.
The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
Title: The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
Interleukin-33 delays recovery of mucosal inflammation via downregulation of homeostatic ABCG5/8 in the colon.
Title: Interleukin-33 delays recovery of mucosal inflammation via downregulation of homeostatic ABCG5/8 in the colon.
ABCG5 and ABCG8 mRNA levels were significantly increased in cholesterol group and less increased in myriocin group, relative to that in normal group.
Title: Inhibition of Ceramide Decreased the Expression of ATP-Binding Cassette Transporter G5/8 mRNA in an Animal Model of Cholesterol Gallstone.
The ABCG5/G8-independent pathway plays an important role in regulating biliary cholesterol secretion, and gallstone formation, which works independently of the ABCG5/G8 pathway.
Title: Evidence that the adenosine triphosphate-binding cassette G5/G8-independent pathway plays a determinant role in cholesterol gallstone formation in mice.
ABCG5/G8 mediate mass biliary cholesterol secretion but not from a reverse cholesterol transport-relevant pool.
Title: Hepatic ABCG5/G8 overexpression substantially increases biliary cholesterol secretion but does not impact in vivo macrophage-to-feces RCT.
AdGRP78 reduced expression of lipogenic genes and plasma triglycerides in the db/db strain. Both G5 and G8 protein levels increased as did total biliary cholesterol
Title: GRP78 rescues the ABCG5 ABCG8 sterol transporter in db/db mice.
The data demonstrate that Abcg5/Abcg8 deficiency reduces the uptake and secretion of both dietary triacylglycerols and cholesterol by the intestine, suggesting a novel role for the sterol transporter in the formation and secretion of chylomicrons.
Title: ABCG5/G8 deficiency in mice reduces dietary triacylglycerol and cholesterol transport into the lymph.
Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus. Polymorphic variations in STSL have been linked to lipid levels and gallstone disease
Title: Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.
The absence of an ABCG5/ABCG8 expression.
Title: Liver-specific induction of Abcg5 and Abcg8 stimulates reverse cholesterol transport in response to ezetimibe treatment.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
contributes_to ATP binding	ISO Inferred from Sequence Orthology more info
contributes_to ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
contributes_to cholesterol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to cholesterol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to cholesterol transfer activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intestinal cholesterol absorption	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within lipid transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intestinal cholesterol absorption	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intestinal phytosterol absorption	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phospholipid transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of ATP-binding cassette (ABC) transporter complex	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: ATP-binding cassette, sub-family G (WHITE), member 8; sterolin 2

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.

mRNA and Protein(s)

NM_001286005.1 → NP_001272934.1 ATP-binding cassette sub-family G member 8 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC165360, AF324495

Consensus CDS

CCDS70849.1

UniProtKB/TrEMBL

E9Q0P2, Q7TSR7

Related

ENSMUSP00000127785.2, ENSMUST00000170725.8

Conserved Domains (2) summary

cd03234
Location:1 → 169

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

pfam01061
Location:275 → 479

ABC2_membrane; ABC-2 type transporter
NM_001347418.1 → NP_001334347.1 ATP-binding cassette sub-family G member 8 isoform 3

Status: VALIDATED

Source sequence(s)

AC165360, AF324495

Consensus CDS

CCDS84337.1

UniProtKB/TrEMBL

Q7TSR6, Q7TSR7

Related

ENSMUSP00000126675.2, ENSMUST00000171915.2
NM_026180.3 → NP_080456.1 ATP-binding cassette sub-family G member 8 isoform 1

See identical proteins and their annotated locations for NP_080456.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC165360, AF324495, AK004871

Consensus CDS

CCDS29002.1

UniProtKB/Swiss-Prot

Q8R543, Q9DBM0

UniProtKB/TrEMBL

Q7TSR7

Related

ENSMUSP00000035246.9, ENSMUST00000045714.15

Conserved Domains (3) summary

cd03234
Location:71 → 296

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

TIGR00955
Location:89 → 664

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

pfam01061
Location:402 → 606

ABC2_membrane; ABC-2 type transporter

RNA

NR_104382.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses a different splice site and lacks a segment in 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC165360, AF324495