ABCG8 (ATP binding cassette subfamily G member 8)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64241
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily G member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCG8
Synonyms (NCBI Gene) Gene synonyms aliases
GBD4, STSL, STSL1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez Gene.
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, M
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(22)
SNP ID Visualize variation Clinical significance Consequence
rs113005049 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant
rs137852987 G>A,T Pathogenic Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs137852988 G>A Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs137852989 C>G Likely-pathogenic, pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs137852990 G>A Uncertain-significance, pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(198)
miRTarBase ID miRNA Experiments Reference
MIRT017992 hsa-miR-335-5p Microarray 18185580
MIRT022678 hsa-miR-124-3p Microarray 18668037
MIRT611784 hsa-miR-8485 HITS-CLIP 19536157
MIRT724305 hsa-miR-4783-5p HITS-CLIP 19536157
MIRT611785 hsa-miR-618 HITS-CLIP 19536157
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
HNF4A Repression 21123766
NR5A2 Activation 15121760
SREBF2 Repression 21123766
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(49)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16870176, 27144356, 32296183
GO:0005524 Function ATP binding IDA 16893193
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
605460 13887 ENSG00000143921
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Q9H221
Protein name ATP-binding cassette sub-family G member 8 (EC 7.6.2.-) (Sterolin-2)
Protein function ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in th
PDB 5DO7 , 7JR7 , 7R87 , 7R88 , 7R89 , 7R8A , 7R8B , 8CUB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00005 ABC_tran 88 → 241 ABC transporter Domain
PF19055 ABC2_membrane_7 270 → 355 ABC-2 type transporter Family
PF01061 ABC2_membrane 397 → 608 ABC-2 type transporter Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in the liver (PubMed:11099417, PubMed:11452359). Low expression levels in the small intestine and colon (PubMed:11099417). Very low levels in other tissues, including brain, heart and spleen (PubMed:11452359). {
Sequence
Sequence length 673
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coronary artery disease Early-onset coronary artery disease rs137852988 N/A
Sitosterolemia Sitosterolemia 1, sitosterolemia rs957176669, rs137852991, rs137852992, rs137852993, rs137854891, rs137852987, rs544500542, rs137852988, rs1000291485, rs1456237152, rs387906323 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholecystitis Cholecystitis N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Hyperlipidemia Familial combined hyperlipidemia defined by Brunzell criteria N/A N/A GWAS
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiovascular Diseases Associate 23241408
Cholecystitis Associate 39519421
Cholecystitis Acute Associate 39519421
Cholelithiasis Associate 20497293, 23406058, 23577061, 24657701, 27981300, 29764733, 30692554, 36981027, 37344314, 37914780, 40428345
Cholestasis Inhibit 25798860
Coronary Artery Disease Associate 15375183, 20592455, 21966275, 32702746, 32862661
Gallbladder Diseases Associate 25920552
Gallbladder Neoplasms Associate 30692554
Gallstones Associate 18007013, 23406058, 24657701, 24914347, 29764733, 32702746, 34906072, 37344314
Hematologic Diseases Associate 24166850