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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 CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ABCG4 Gene

Promoters and enhancers for ABCG4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I119148 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.2 234 0.7 KLF1 ZNF777 KLF17 SIN3A ZIC2 ZFHX2 GLIS2 ZBTB48 PATZ1 PRDM10 ABCG4 GC11P119149 GC11P119151 HINFP
GH11I119147 Enhancer 0.6 ENCODE 550.8 -0.9 -939 0.8 MAZ USF1 ZNF10 MITF ZNF664 ZNF366 ZBTB48 ZNF512 SCRT2 EZH2 ABCG4 GC11P119149 GC11P119151 NLRX1 PIR55037
GH11I119360 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.4 +214.0 213978 5.8 PKNOX1 FOXA2 SIN3A FEZF1 YY1 GLIS2 FOS RXRA JUNB REST USP2 RNF26 ENSG00000245385 THY1 ABCG4 NLRX1 LOC101929089 GC11M119369 C1QTNF5 MFRP
GH11I119100 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 -46.8 -46845 3.9 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 C2CD2L DPAGT1 HINFP NLRX1 ABCG4 HMBS H2AFX
GH11I119366 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +220.6 220557 6.4 HDGF PKNOX1 SMAD1 FOXA2 ARID4B DMAP1 YY1 FOS SP5 MXD4 THY1 C1QTNF5 ABCG4 MFRP USP2 NLRX1 H2AFX ENSG00000254740 GC11M119369
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCG4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCG4 gene promoter:

Genomic Locations for ABCG4 Gene

Genomic Locations for ABCG4 Gene
chr11:119,149,012-119,162,666
(GRCh38/hg38)
Size:
13,655 bases
Orientation:
Plus strand
chr11:119,019,722-119,033,375
(GRCh37/hg19)

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

No data available for DME Specific Peptides for ABCG4 Gene

Domains & Families for ABCG4 Gene

Gene Families for ABCG4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for ABCG4 Gene

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:

Clone Products

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 IBA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with ABCG4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCG4 Gene

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 --
GO:1990830 cellular response to leukemia inhibitory factor IEA --
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:

Clone 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 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)
genes like me logo Genes that share expression patterns with ABCG4: view

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 33
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG4 34 33
  • 93.03 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCG4 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcg4 33
  • 90.25 (n)
mouse
(Mus musculus)
Mammalia Abcg4 16 34 33
  • 90.25 (n)
cow
(Bos Taurus)
Mammalia ABCG4 34 33
  • 89.06 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG4 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCG4 33 34
  • 81.71 (n)
lizard
(Anolis carolinensis)
Reptilia ABCG4 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg4 33
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii abcg4a 34
  • 78 (a)
OneToMany
abcg4b 34
  • 78 (a)
OneToMany
abcg4 33
  • 73.46 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001858 33
  • 63.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atet 35 33 34
  • 62.83 (n)
BEST:CK02656 35
  • 48 (a)
CG9663 35 34
  • 48 (a)
CG5853 35 34
  • 44 (a)
CG3164 34
  • 43 (a)
ManyToMany
CG9664 34
  • 38 (a)
ManyToMany
CG4822 35 34
  • 37 (a)
CG9892 35
  • 36 (a)
E23 35 34
  • 36 (a)
CG31689 34
  • 36 (a)
ManyToMany
w 35 34
  • 33 (a)
CG32091 34
  • 33 (a)
ManyToMany
CG17646 34
  • 32 (a)
ManyToMany
st 35 34
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea F02E11.1 35
  • 30 (a)
C05D10.3 35
  • 28 (a)
C10C6.5 35
  • 28 (a)
C16C10.12 35
  • 28 (a)
F19B6.4 35
  • 28 (a)
wht-4 34
  • 28 (a)
ManyToMany
Y47D3A.11 35
  • 27 (a)
T26A5.1 35
  • 26 (a)
wht-2 34
  • 26 (a)
ManyToMany
wht-8 34
  • 25 (a)
ManyToMany
wht-3 34
  • 24 (a)
ManyToMany
wht-6 34
  • 24 (a)
ManyToMany
wht-5 34
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 34
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G27420 33
  • 43.06 (n)
rice
(Oryza sativa)
Liliopsida Os.7232 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.681 33
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 Variation AA Info Type
rs193920956 uncertain-significance, Malignant tumor of prostate 119,150,202(+) G/C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000152386 -- 119,152,120(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000326400 -- 119,159,100(+) G/T intron_variant
rs1001093937 -- 119,148,942(+) G/A upstream_transcript_variant
rs1001151479 -- 119,163,159(+) G/T downstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for ABCG4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 (Cytogenetics and cell genetics 2001) 3 4 22 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  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 (Journal of human genetics 2009) 3 44 58
  4. Integrative predictive model of coronary artery calcification in atherosclerosis. (PMID: 19948975) McGeachie M … Ramoni MF (Circulation 2009) 3 44 58
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58

Products for ABCG4 Gene

Sources for ABCG4 Gene

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