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Aliases for ABCG4 Gene

Aliases for ABCG4 Gene

  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 4 2 3
  • WHITE2 3 4 6
  • Putative ABC Transporter 2 3
  • ATP-Binding Cassette, Subfamily G, Member 4 3
  • ATP-Binding Cassette Sub-Family G Member 4 3
  • ATP-Binding Cassette 2
  • Subfamily G 2
  • Member 4 2

External Ids for ABCG4 Gene

Previous GeneCards Identifiers for ABCG4 Gene

  • GC11P135476
  • GC11P120533
  • GC11P119054
  • GC11P118557
  • GC11P118558
  • GC11P118524
  • GC11P119019
  • GC11P114959

Summaries for ABCG4 Gene

Entrez Gene Summary for ABCG4 Gene

  • 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]

GeneCards Summary for ABCG4 Gene

ABCG4 (ATP-Binding Cassette, Sub-Family G (WHITE), Member 4) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include protein homodimerization activity and ATPase activity. An important paralog of this gene is ABCG8.

UniProtKB/Swiss-Prot for ABCG4 Gene

  • May be involved in macrophage lipid homeostasis

Gene Wiki entry for ABCG4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCG4 Gene

Genomics for ABCG4 Gene

Regulatory Elements for ABCG4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABCG4 Gene

Start:
119,149,012 bp from pter
End:
119,162,666 bp from pter
Size:
13,655 bases
Orientation:
Plus strand

Genomic View for ABCG4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCG4 Gene

Proteins for ABCG4 Gene

  • Protein details for ABCG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H172-ABCG4_HUMAN
    Recommended name:
    ATP-binding cassette sub-family G member 4
    Protein Accession:
    Q9H172
    Secondary Accessions:
    • A8K1B5
    • Q8WWH0
    • Q8WWH1
    • Q8WWH2

    Protein attributes for ABCG4 Gene

    Size:
    646 amino acids
    Molecular mass:
    71896 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCG4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCG4 Gene

Proteomics data for ABCG4 Gene at MOPED

Post-translational modifications for ABCG4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABCG4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCG4 Gene

Domains for ABCG4 Gene

Gene Families for ABCG4 Gene

HGNC:
  • ABCG :ATP binding cassette transporters / subfamily G
IUPHAR :

Protein Domains for ABCG4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H172

UniProtKB/Swiss-Prot:

ABCG4_HUMAN :
  • Q9H172
Domain:
  • Contains 1 ABC transmembrane type-2 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
genes like me logo Genes that share domains with ABCG4: view

Function for ABCG4 Gene

Molecular function for ABCG4 Gene

UniProtKB/Swiss-Prot Function: May be involved in macrophage lipid homeostasis

Gene Ontology (GO) - Molecular Function for ABCG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16870176
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0017127 cholesterol transporter activity TAS --
GO:0042803 protein homodimerization activity IDA 16870176
genes like me logo Genes that share ontologies with ABCG4: view

Phenotypes for ABCG4 Gene

genes like me logo Genes that share phenotypes with ABCG4: view

Animal Model Products

CRISPR Products

miRNA for ABCG4 Gene

miRTarBase miRNAs that target ABCG4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCG4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCG4 Gene

Localization for ABCG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCG4 Gene COMPARTMENTS Subcellular localization image for ABCG4 gene
Compartment Confidence
plasma membrane 4
peroxisome 2
endoplasmic reticulum 1
endosome 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ABCG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCG4: view

Pathways for ABCG4 Gene

genes like me logo Genes that share pathways with ABCG4: view

Pathways by source for ABCG4 Gene

Interacting Proteins for ABCG4 Gene

Gene Ontology (GO) - Biological Process for ABCG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0008152 metabolic process IEA --
GO:0033344 cholesterol efflux TAS 16682745
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ABCG4: view

Compounds for ABCG4 Gene

(1) Novoseek inferred chemical compound relationships for ABCG4 Gene

Compound -log(P) Hits PubMed IDs
cholesterol 0 2
genes like me logo Genes that share compounds with ABCG4: view

Transcripts for ABCG4 Gene

Unigene Clusters for ABCG4 Gene

ATP-binding cassette, sub-family G (WHITE), member 4:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCG4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCG4 Gene

No ASD Table

Relevant External Links for ABCG4 Gene

GeneLoc Exon Structure for
ABCG4
ECgene alternative splicing isoforms for
ABCG4

Expression for ABCG4 Gene

mRNA expression in normal human tissues for ABCG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCG4 Gene

This gene is overexpressed in Brain - Cerebellum (9.4), Brain - Cerebellar Hemisphere (7.9), Brain - Cortex (5.1), and Brain - Frontal Cortex (BA9) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ABCG4 Gene

SOURCE GeneReport for Unigene cluster for ABCG4 Gene Hs.126378

mRNA Expression by UniProt/SwissProt for ABCG4 Gene

Q9H172-ABCG4_HUMAN
Tissue specificity: Highly expressed in brain tissues with the exception of the spinal cord.
genes like me logo Genes that share expressions with ABCG4: view

In Situ Assay Products

Orthologs for ABCG4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCG4 35
  • 99.79 (n)
  • 100 (a)
ABCG4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCG4 35
  • 89.06 (n)
  • 89.01 (a)
ABCG4 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG4 35
  • 93.03 (n)
  • 97.68 (a)
ABCG4 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg4 35
  • 90.25 (n)
  • 96.59 (a)
Abcg4 16
Abcg4 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCG4 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG4 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcg4 35
  • 90.25 (n)
  • 95.98 (a)
chicken
(Gallus gallus)
Aves ABCG4 35
  • 81.71 (n)
  • 87.26 (a)
ABCG4 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCG4 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg4 35
  • 71.6 (n)
  • 83.62 (a)
zebrafish
(Danio rerio)
Actinopterygii abcg4 35
  • 73.46 (n)
  • 80.72 (a)
abcg4a 36
  • 78 (a)
OneToMany
abcg4b 36
  • 78 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001858 35
  • 63.18 (n)
  • 59.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta Atet 35
  • 62.83 (n)
  • 59.53 (a)
Atet 36
  • 42 (a)
ManyToMany
CG17646 36
  • 32 (a)
ManyToMany
CG3164 36
  • 43 (a)
ManyToMany
CG31689 36
  • 36 (a)
ManyToMany
CG32091 36
  • 33 (a)
ManyToMany
CG4822 36
  • 37 (a)
ManyToMany
CG5853 36
  • 40 (a)
ManyToMany
CG9663 36
  • 33 (a)
ManyToMany
CG9664 36
  • 38 (a)
ManyToMany
E23 36
  • 18 (a)
ManyToMany
st 36
  • 26 (a)
ManyToMany
w 36
  • 28 (a)
ManyToMany
w 37
  • 33 (a)
CG4822 37
  • 37 (a)
CG9663 37
  • 48 (a)
E23 37
  • 36 (a)
CG9892 37
  • 36 (a)
BEST:CK02656 37
  • 48 (a)
CG5853 37
  • 44 (a)
st 37
  • 29 (a)
Atet 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea wht-2 36
  • 26 (a)
ManyToMany
wht-3 36
  • 24 (a)
ManyToMany
wht-4 36
  • 28 (a)
ManyToMany
wht-5 36
  • 23 (a)
ManyToMany
wht-6 36
  • 24 (a)
ManyToMany
wht-8 36
  • 25 (a)
ManyToMany
F19B6.4 37
  • 28 (a)
Y47D3A.11 37
  • 27 (a)
T26A5.1 37
  • 26 (a)
F02E11.1 37
  • 30 (a)
C05D10.3 37
  • 28 (a)
C10C6.5 37
  • 28 (a)
C16C10.12 37
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 36
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G27420 35
  • 43.06 (n)
  • 34.17 (a)
rice
(Oryza sativa)
Liliopsida Os.7232 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.681 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for ABCG4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCG4 Gene

ENSEMBL:
Gene Tree for ABCG4 (if available)
TreeFam:
Gene Tree for ABCG4 (if available)

Paralogs for ABCG4 Gene

Paralogs for ABCG4 Gene

Selected SIMAP similar genes for ABCG4 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ABCG4: view

Variants for ABCG4 Gene

Sequence variations from dbSNP and Humsavar for ABCG4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs485030 -- 119,159,139(+) GACCA(C/T)GTGGA intron-variant
rs588545 -- 119,150,705(-) ggcct(C/T)agttt intron-variant
rs609034 -- 119,156,440(-) AACAT(C/T)TCAAA synonymous-codon, reference
rs626776 -- 119,158,103(-) ATCTT(C/G)TACCA intron-variant
rs637221 -- 119,154,648(-) TCCCA(A/C)TCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCG4 Gene

Variant ID Type Subtype PubMed ID
nsv898416 CNV Loss 21882294
nsv468879 CNV Loss 19166990

Relevant External Links for ABCG4 Gene

HapMap Linkage Disequilibrium report
ABCG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCG4 Gene

Disorders for ABCG4 Gene

Relevant External Links for ABCG4

Genetic Association Database (GAD)
ABCG4
Human Genome Epidemiology (HuGE) Navigator
ABCG4
genes like me logo Genes that share disorders with ABCG4: view

No data available for UniProtKB/Swiss-Prot for ABCG4 Gene

Publications for ABCG4 Gene

  1. Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4. (PMID: 11856881) Annilo T. … Allikmets R. (Cytogenet. Cell Genet. 2001) 3 4 23
  2. The human ATP-binding cassette (ABC) transporter superfamily. (PMID: 11435397) Dean M. … Allikmets R. (Genome Res. 2001) 2 3
  3. The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages. (PMID: 11606068) Engel T. … Assmann G. (Biochem. Biophys. Res. Commun. 2001) 3 4
  4. ABCG4: a novel human white family ABC-transporter expressed in the brain and eye. (PMID: 12183068) Oldfield S. … Lightman S. (Biochim. Biophys. Acta 2002) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ABCG4 Gene

Sources for ABCG4 Gene

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