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

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; AllianceGenome:HGNC:13884
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: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (119149052..119162666)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (119169420..119183034)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (119019762..119033375)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of ABCG4 transporter expression by sterols and LXR ligands.
Title: Regulation of ABCG4 transporter expression by sterols and LXR ligands.
Alix serves as a co-factor for the interaction between the E3-ubiquitin ligase NEDD4-1 and the ABC transporter targets, ABCG1 and ABCG4.
Title: The Adaptor Protein Alix is Involved in the Interaction Between the Ubiquitin Ligase NEDD4-1 and its Targets, ABCG1 and ABCG4.
Intriguingly, DU-145 cells with stably depleted ABCG4 levels not only significantly delayed the development of the tumor but also greatly sensitized the tumor to a low dose of doxorubicin that resulted in complete tumor regression. Collectively, this data reinforces a novel function of ABCG4 in doxorubicin-mediated chemoresistance, and as a potential therapeutic target in drug-induced prostate cancer chemoresistance.
Title: Doxorubicin induces prostate cancer drug resistance by upregulation of ABCG4 through GSH depletion and CREB activation: Relevance of statins in chemosensitization.
We show for the first time that Abcg4 may function in vivo to export Abeta at the BBB, in a process that can be antagonized by its putative natural ligand, desmosterol (and possibly cholesterol).
Title: Expression and function of Abcg4 in the mouse blood-brain barrier: role in restricting the brain entry of amyloid-β peptide.
Modulation of miR-185-5p expression by EBV-miR-BART6 contributes to developmental differences in ABCG4 gene expression in human megakaryocytes
Title: Modulation of miR-185-5p expression by EBV-miR-BART6 contributes to developmental differences in ABCG4 gene expression in human megakaryocytes.
ABCG1 and ABCG4 alter the distribution of gamma-secretase on the plasma membrane, leading to the decreased gamma-secretase activity and suppressed Abeta secretion
Title: ABCG1 and ABCG4 Suppress γ-Secretase Activity and Amyloid β Production.
Both the full-length and the short isoforms of ABCG1 can dimerize with ABCG4, whereas the ABCG2 multidrug transporter is unable to form a heterodimer with ABCG4.
Title: Functional Cooperativity between ABCG4 and ABCG1 Isoforms.
Study suggests that high ABCG4 expression is associated with poor prognosis in patients with non-small-cell lung cancer with advanced stages.
Title: High ABCG4 Expression Is Associated with Poor Prognosis in Non-Small-Cell Lung Cancer Patients Treated with Cisplatin-Based Chemotherapy.
HUWE1 and NEDD4-1 are two E3 ligases that are fundamental enzymes in the post-translational regulation of ABCG1 and ABCG4 protein levels and cellular cholesterol export activity
Title: The E3 ubiquitin ligases, HUWE1 and NEDD4-1, are involved in the post-translational regulation of the ABCG1 and ABCG4 lipid transporters.
These results suggest that ABCA1, ABCG1, and ABCG4 are localized to distinct membrane meso-domains and disturb the meso-domain structures by reorganizing lipids on the plasma membrane
Title: ABCA1, ABCG1, and ABCG4 are distributed to distinct membrane meso-domains and disturb detergent-resistant domains on the plasma membrane.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2450 (e-PCR)
- UniSTS:82345

ABCG4_683 (e-PCR)
- UniSTS:276955

ABCG4_V60 (e-PCR)
- UniSTS:276955

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type sterol transporter activity	IBA Inferred from Biological aspect of Ancestor 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 high density lipoprotein particle stimulus	IEA Inferred from Electronic Annotation more info
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
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	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cholesterol efflux	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor 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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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

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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

NG_047178.1 RefSeqGene

Range

5013..18614

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142505.1 → NP_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

A8K1B5, Q8WWH0, Q8WWH1, Q8WWH2, Q9H172

Related

ENSP00000479253.1, ENST00000615496.4

Conserved Domains (1) summary

TIGR00955
Location:44 → 646

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_001348191.2 → NP_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

A8K1B5, Q8WWH0, Q8WWH1, Q8WWH2, Q9H172

Conserved Domains (1) summary

TIGR00955
Location:44 → 646

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_001348192.2 → NP_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:18 → 585

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_022169.5 → NP_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

A8K1B5, Q8WWH0, Q8WWH1, Q8WWH2, Q9H172

Related

ENSP00000481728.1, ENST00000619701.5

Conserved Domains (1) summary

TIGR00955
Location:44 → 646

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

119149052..119162666

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542952.3 → XP_011541254.1 ATP-binding cassette sub-family G member 4 isoform X1

UniProtKB/Swiss-Prot

Q9H172

Conserved Domains (3) summary

cd03213
Location:10 → 219

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

TIGR00955
Location:15 → 582

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

pfam01061
Location:313 → 515

ABC2_membrane; ABC-2 type transporter