ABCG4 Gene Summary [Human]

The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]

Details

Type
Protein Coding
Official Symbol
ABCG4
Official Name
ATP binding cassette subfamily G member 4 [Source:HGNC Symbol;Acc:HGNC:13884]
Ensembl ID
ENSG00000172350
Bio databases IDs NCBI: 64137 Ensembl: ENSG00000172350
Aliases ATP binding cassette subfamily G member 4, putative ABC transporter, ATP-binding cassette, subfamily G, member 4
Synonyms 6430517O04Rik, ATP binding cassette subfamily G member 4, WHITE2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABCG4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ABC-2 type transporter
  • ATPase activity, coupled to transmembrane movement of substances
  • FeS assembly ATPase SufC
  • The Eye Pigment Precursor Transporter (EPP) Family protein
  • phosphonate ABC transporter, ATP-binding protein
  • protein binding
  • nitrate transport ATP-binding subunits C and D
  • identical protein binding
  • ATPase
  • heme ABC exporter, ATP-binding protein CcmA
  • urea ABC transporter, ATP-binding protein UrtE
  • lipid transporter
  • cobalt transport protein ATP-binding subunit
  • energy-coupling factor transporter ATPase
  • protein homodimerization
  • ABC transporter
  • thiamine ABC transporter, ATP-binding protein
  • protein heterodimerization
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • transporter
  • ATPases associated with a variety of cellular activities

Pathways

Biological processes and signaling networks where the ABCG4 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • rotator cuff injury
  • pervasive developmental disorder
regulated by
regulates
  • cholesterol
  • SOAT1
  • phospholipid
  • sterol

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • endosomes
  • endosomal membrane
  • cytoplasmic vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ABCG4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • transmembrane transport
  • positive regulation of cholesterol efflux
  • cellular response to high density lipoprotein particle stimulus
  • regulation of transcription, DNA-dependent
  • positive regulation of cholesterol biosynthetic process
  • cholesterol efflux
  • cholesterol homeostasis

Cellular Component

Where in the cell the gene product is active
  • cytoplasmic vesicle
  • endosome membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • ATP binding
  • sterol-transporting ATPase activity
  • identical protein binding
  • protein binding
  • protein homodimerization activity
  • protein heterodimerization activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.