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Aliases for ABCG4 Gene

Aliases for ABCG4 Gene

  • ATP Binding Cassette Subfamily G Member 4 2 3 5
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 4 2 3
  • Putative ABC Transporter 2 3
  • WHITE2 3 4
  • ATP-Binding Cassette, Subfamily G, Member 4 2
  • ATP-Binding Cassette Sub-Family G Member 4 3

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 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]

GeneCards Summary for ABCG4 Gene

ABCG4 (ATP Binding Cassette Subfamily G 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 CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include protein homodimerization activity and ATPase activity. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot for ABCG4 Gene

  • May be involved in macrophage lipid homeostasis.

Gene Wiki entry for ABCG4 Gene

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

Genomics for ABCG4 Gene

Regulatory Elements for ABCG4 Gene

Enhancers for ABCG4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G119366 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +220.6 220558 6.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 FOS SP5 MXD4 THY1 C1QTNF5 ABCG4 MFRP USP2 NLRX1 H2AFX GC11M119369
GH11G119297 1.3 ENCODE dbSUPER 10.9 +149.9 149944 3.1 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 DEK CBL NLRX1 ABCG4 C1QTNF5 MFRP MCAM HMBS IFT46 USP2 GC11P119299
GH11G119217 1.3 Ensembl ENCODE 10.8 +69.3 69323 2.0 ATF1 PKNOX1 CREB3L1 ARNT SIN3A TCF12 ZNF766 ELK1 GATA2 FOS HINFP NLRX1 CBL PDZD3 ABCG4 DPAGT1 C2CD2L H2AFX HMBS C1QTNF5
GH11G119305 1.3 Ensembl ENCODE dbSUPER 10.5 +157.3 157339 2.7 CTCF KLF1 JUN MAX CEBPG RAD21 FOSL1 ZNF316 ZNF366 POLR2A HINFP RNF26 ENSG00000245385 C1QTNF5 MFRP NLRX1 ABCG4 DPAGT1 C2CD2L MCAM
GH11G119360 1.3 ENCODE dbSUPER 10.4 +214.0 213978 5.8 PKNOX1 FOXA2 AGO1 SIN3A FEZF1 YY1 GLIS2 FOS ZNF263 ZHX2 RNF26 ENSG00000245385 THY1 ABCG4 NLRX1 USP2 GC11M119369 C1QTNF5 MFRP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCG4 on UCSC Golden Path with GeneCards custom track

Promoters for ABCG4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045731 288 601 BCOR KLF1 KLF17 ZIC2 HIC1 ZFHX2 GLIS2 ZBTB48 PATZ1 PRDM10

Genomic Location for ABCG4 Gene

Chromosome:
11
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

Genes around ABCG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ABCG4 Gene

  • Glycosylation at posLast=422422
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCG4 Gene

Domains & Families for ABCG4 Gene

Gene Families for ABCG4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H172

UniProtKB/Swiss-Prot:

ABCG4_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
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:0034041 sterol-transporting ATPase activity IBA --
genes like me logo Genes that share ontologies with ABCG4: view
genes like me logo Genes that share phenotypes with ABCG4: view

Animal Models for ABCG4 Gene

MGI Knock Outs for ABCG4:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCG4

CRISPR Products

miRNA for ABCG4 Gene

miRTarBase miRNAs that target ABCG4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCG4 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
endoplasmic reticulum 2
extracellular 1
endosome 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 IEA --
GO:0016021 integral component of membrane IBA,IEA --
genes like me logo Genes that share ontologies with ABCG4: view

Pathways & Interactions for ABCG4 Gene

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

Pathways by source for ABCG4 Gene

Gene Ontology (GO) - Biological Process for ABCG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0033344 cholesterol efflux TAS 16682745
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ABCG4: view

No data available for SIGNOR curated interactions for ABCG4 Gene

Drugs & Compounds for ABCG4 Gene

(1) Drugs for ABCG4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x9.4), Brain - Cerebellar Hemisphere (x7.9), Brain - Cortex (x5.1), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for ABCG4 Gene

This gene is overexpressed in Heart (31.4), Frontal cortex (20.4), and Adipocyte (17.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCG4 Gene



Protein tissue co-expression partners for ABCG4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCG4 Gene:

ABCG4

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.

Evidence on tissue expression from TISSUES for ABCG4 Gene

  • Nervous system(4.4)
  • Lung(4.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with ABCG4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCG4 Gene

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 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia ABCG4 34 35
  • 93.03 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCG4 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg4 34 16 35
  • 90.25 (n)
rat
(Rattus norvegicus)
Mammalia Abcg4 34
  • 90.25 (n)
cow
(Bos Taurus)
Mammalia ABCG4 34 35
  • 89.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG4 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCG4 34 35
  • 81.71 (n)
lizard
(Anolis carolinensis)
Reptilia ABCG4 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg4 34
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii abcg4a 35
  • 78 (a)
OneToMany
abcg4b 35
  • 78 (a)
OneToMany
abcg4 34
  • 73.46 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001858 34
  • 63.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atet 36 34 35
  • 62.83 (n)
BEST:CK02656 36
  • 48 (a)
CG9663 36 35
  • 48 (a)
CG5853 36 35
  • 44 (a)
CG3164 35
  • 43 (a)
ManyToMany
CG9664 35
  • 38 (a)
ManyToMany
CG4822 36 35
  • 37 (a)
CG9892 36
  • 36 (a)
E23 36 35
  • 36 (a)
CG31689 35
  • 36 (a)
ManyToMany
w 36 35
  • 33 (a)
CG32091 35
  • 33 (a)
ManyToMany
CG17646 35
  • 32 (a)
ManyToMany
st 36 35
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea F02E11.1 36
  • 30 (a)
C05D10.3 36
  • 28 (a)
C10C6.5 36
  • 28 (a)
C16C10.12 36
  • 28 (a)
F19B6.4 36
  • 28 (a)
wht-4 35
  • 28 (a)
ManyToMany
Y47D3A.11 36
  • 27 (a)
T26A5.1 36
  • 26 (a)
wht-2 35
  • 26 (a)
ManyToMany
wht-8 35
  • 25 (a)
ManyToMany
wht-3 35
  • 24 (a)
ManyToMany
wht-6 35
  • 24 (a)
ManyToMany
wht-5 35
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 35
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G27420 34
  • 43.06 (n)
rice
(Oryza sativa)
Liliopsida Os.7232 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.681 34
Species where no ortholog for ABCG4 was found in the sources mined by GeneCards:
  • 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

(5) 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
rs193920956 Uncertain significance 119,150,202(+) AAAAG(C/G/T)GGTAG reference, missense, utr-variant-5-prime
rs1000152386 -- 119,152,120(+) GAAAG(A/G)CATAT intron-variant, upstream-variant-2KB
rs1000326400 -- 119,159,100(+) CCCTA(G/T)GGATA intron-variant
rs1001093937 -- 119,148,942(+) CCCCC(A/G)CGCCG upstream-variant-2KB
rs1001151479 -- 119,163,159(+) CAGAG(G/T)CTTCA downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv468879 CNV loss 19166990
nsv476172 CNV novel sequence insertion 20440878
nsv556466 CNV loss 21841781
nsv556467 CNV loss 21841781

Variation tolerance for ABCG4 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.03; 50.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCG4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCG4

No disorders were found for ABCG4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64
  4. Integrative predictive model of coronary artery calcification in atherosclerosis. (PMID: 19948975) McGeachie M. … Ramoni M.F. (Circulation 2009) 3 46 64
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 46 64

Products for ABCG4 Gene

Sources for ABCG4 Gene

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