ABCG5 (ATP binding cassette subfamily G member 5)

2014-11-01  

Identity

HGNC
ABCG5
LOCATION
2p21
LOCUSID
64240
ALIAS
STSL,STSL2

Other Information

Locus ID:

NCBI: 64240
MIM: 605459
HGNC: 13886
Ensembl: ENSG00000138075

Variants:

dbSNP: 64240
ClinVar: 64240
TCGA: ENSG00000138075
COSMIC: ABCG5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138075ENST00000405322Q9H222

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Trafficking of dietary sterolsREACTOMER-HSA-265473

References

Pubmed IDYearTitleCitations
381086582024Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.1
383475992024Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses.0
381086582024Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.1
383475992024Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses.0
357052712023Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.1
357052712023Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.1
355495072022Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.6
359887512022Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.5
355495072022Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.6
359887512022Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.5
325460812021ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.7
333951052021Recent advances in ABCG5 and ABCG8 variants.6
338079692021Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.14
343107342021NF-κB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis.7
345107072021The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.1

Citation

Dessen P

ABCG5 (ATP binding cassette subfamily G member 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60045/js/js/humanGenome