ABCG4

ABCG4
Identifiers
Aliases	ABCG4, WHITE2, ATP binding cassette subfamily G member 4
External IDs	OMIM: 607784; MGI: 1890594; HomoloGene: 75179; GeneCards: ABCG4; OMA:ABCG4 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q23.3 Start 119,149,052 bp[1] End 119,162,653 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A5.2 Start 44,184,485 bp[2] End 44,199,912 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe prefrontal cortex lateral nuclear group of thalamus oocyte primary visual cortex secondary oocyte dorsolateral prefrontal cortex Brodmann area 9 anterior cingulate cortex Top expressed in neural layer of retina superior frontal gyrus cerebellar cortex primary visual cortex dentate gyrus of hippocampal formation granule cell superior colliculus dorsal tegmental nucleus habenula nucleus of stria terminalis subiculum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ATPase activity protein binding ATP binding cholesterol transfer activity protein homodimerization activity ABC-type sterol transporter activity protein heterodimerization activity ATPase-coupled transmembrane transporter activity Cellular component integral component of membrane plasma membrane membrane Biological process transmembrane transport cholesterol efflux cellular response to leukemia inhibitory factor cholesterol transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64137 192663 Ensembl ENSG00000172350 ENSMUSG00000032131 UniProt Q9H172 Q91WA9 RefSeq (mRNA) NM_001142505 NM_022169 NM_001348191 NM_001348192 NM_138955 RefSeq (protein) NP_001135977 NP_071452 NP_001335120 NP_001335121 NP_620405 Location (UCSC) Chr 11: 119.15 – 119.16 Mb Chr 9: 44.18 – 44.2 Mb PubMed search [3] [4]
Wikidata
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ATP-binding cassette sub-family G member 4 is a protein that in humans is encoded by the ABCG4 gene.^[5][6]

The protein encoded by this gene is included in the ATP-binding cassette transporter (ABC protein) superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined.^[6]

ABCG4 has demonstrated, in vitro, to participate in the efflux of desmosterol and amyloid-β peptide (Aβ). It is highly expressed in the brain, but its localization and function at the blood-brain barrier (BBB) level remain unknown.^[7]

• ATP-binding cassette transporter

• ABCG4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ABCG4 genome location and ABCG4 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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