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ABCG4 ATP binding cassette subfamily G member 4 [ Homo sapiens (human) ]

Gene ID: 64137, updated on 3-Apr-2016
Official Symbol
ABCG4provided by HGNC
Official Full Name
ATP binding cassette subfamily G member 4provided by HGNC
Primary source
HGNC:HGNC:13884
See related
Ensembl:ENSG00000172350 HPRD:12130; MIM:607784; Vega:OTTHUMG00000166169
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WHITE2
Summary
The protein encoded by this gene is included in 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, 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. [provided by RefSeq, Jul 2008]
Orthologs
Location:
11q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (119149040..119162666)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119019750..119033375)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene C2CD2 like Neighboring gene histone H4 transcription factor Neighboring gene NLR family member X1 Neighboring gene PDZ domain containing 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
    ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
cholesterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
cholesterol transporter activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
sterol-transporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
cholesterol efflux TAS
Traceable Author Statement
more info
PubMed 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
ATP-binding cassette sub-family G member 4
Names
ATP-binding cassette, sub-family G (WHITE), member 4
ATP-binding cassette, subfamily G, member 4
putative ABC transporter

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)

  1. NM_001142505.1NP_001135977.1  ATP-binding cassette sub-family G member 4

    See identical proteins and their annotated locations for NP_001135977.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    BC041091, DA241043
    Consensus CDS
    CCDS8415.1
    UniProtKB/Swiss-Prot
    Q9H172
    Related
    ENSP00000479253, OTTHUMP00000276016, ENST00000615496, OTTHUMT00000388215
    Conserved Domains (3) summary
    cd03213
    Location:58283
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    pfam01061
    Location:372583
    ABC2_membrane; ABC-2 type transporter
    TIGR00955
    Location:44646
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  2. NM_022169.4NP_071452.2  ATP-binding cassette sub-family G member 4

    See identical proteins and their annotated locations for NP_071452.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    BC041091, DA093690
    Consensus CDS
    CCDS8415.1
    UniProtKB/Swiss-Prot
    Q9H172
    Related
    ENSP00000481728, OTTHUMP00000276015, ENST00000619701, OTTHUMT00000388213
    Conserved Domains (3) summary
    cd03213
    Location:58283
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    pfam01061
    Location:372583
    ABC2_membrane; ABC-2 type transporter
    TIGR00955
    Location:44646
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    119149040..119162666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542952.1XP_011541254.1  

    UniProtKB/Swiss-Prot
    Q9H172
    Conserved Domains (3) summary
    cd03213
    Location:10219
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    pfam01061
    Location:308519
    ABC2_membrane; ABC-2 type transporter
    TIGR00955
    Location:15582
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    118906025..118919644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)