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

Gene ID: 64137, updated on 8-Jul-2021

Summary

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 MIM:607784
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 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]
Expression
Biased expression in testis (RPKM 2.4), brain (RPKM 2.0) and 8 other tissues See more
Orthologs
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Genomic context

See ABCG4 in Genome Data Viewer
Location:
11q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (119149052..119162666)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119019762..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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type sterol transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
involved_in cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cholesterol efflux TAS
Traceable Author Statement
more info
PubMed 
involved_in cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-binding cassette sub-family G member 4
Names
ATP-binding cassette, sub-family G (WHITE), member 4
putative ABC transporter

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_047178.1 RefSeqGene

    Range
    5013..18614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    BC041091, DA241043
    Consensus CDS
    CCDS8415.1
    UniProtKB/Swiss-Prot
    Q9H172
    Related
    ENSP00000479253.1, ENST00000615496.4
    Conserved Domains (1) summary
    TIGR00955
    Location:44646
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  2. NM_001348191.2NP_001335120.1  ATP-binding cassette sub-family G member 4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AP002956, KF511131
    Consensus CDS
    CCDS8415.1
    UniProtKB/Swiss-Prot
    Q9H172
    Conserved Domains (1) summary
    TIGR00955
    Location:44646
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  3. NM_001348192.2NP_001335121.1  ATP-binding cassette sub-family G member 4 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AP002956, KF511131
    UniProtKB/Swiss-Prot
    Q9H172
    Conserved Domains (1) summary
    TIGR00955
    Location:18585
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  4. NM_022169.5NP_071452.2  ATP-binding cassette sub-family G member 4 isoform a

    See identical proteins and their annotated locations for NP_071452.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    BC041091, DA093690
    Consensus CDS
    CCDS8415.1
    UniProtKB/Swiss-Prot
    Q9H172
    Related
    ENSP00000481728.1, ENST00000619701.5
    Conserved Domains (1) summary
    TIGR00955
    Location:44646
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    119149052..119162666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542952.2XP_011541254.1  ATP-binding cassette sub-family G member 4 isoform X1

    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
    TIGR00955
    Location:15582
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:313515
    ABC2_membrane; ABC-2 type transporter
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