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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 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 Subfamily G Member 4) is a Protein Coding gene. Diseases associated with ABCG4 include macular degeneration, age-related, 1. 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

Promoters for ABCG4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCG4 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ABCG4 Gene at MOPED

Post-translational modifications for ABCG4 Gene

  • Glycosylation at Asn 422
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCG4 Gene

Antibody Products

No data available for DME Specific Peptides for ABCG4 Gene

Domains & Families for ABCG4 Gene

Gene Families for ABCG4 Gene

Protein Domains for ABCG4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H172

UniProtKB/Swiss-Prot:

ABCG4_HUMAN :
  • Contains 1 ABC transmembrane type-2 domain.
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
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:0016887 ATPase activity IEA --
GO:0017127 cholesterol transporter activity TAS --
GO:0034041 sterol-transporting ATPase activity IBA --
GO:0042803 protein homodimerization activity IDA 16870176
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

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
Jensen Localization Image for ABCG4 Gene COMPARTMENTS Subcellular localization image for ABCG4 gene
Compartment Confidence
plasma membrane 5
peroxisome 3
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
vacuole 2
cytoskeleton 1
cytosol 1
endosome 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ABCG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane 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

Interacting Proteins for ABCG4 Gene

Gene Ontology (GO) - Biological Process for ABCG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033344 cholesterol efflux TAS 16682745
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 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



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 expression patterns with ABCG4: view

Protein tissue co-expression partners for ABCG4 Gene

- Elite partner

Primer Products

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 36
  • 89 (a)
OneToOne
ABCG4 35
  • 89.06 (n)
  • 89.01 (a)
dog
(Canis familiaris)
Mammalia ABCG4 35
  • 93.03 (n)
  • 97.68 (a)
ABCG4 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg4 16
Abcg4 36
  • 97 (a)
OneToOne
Abcg4 35
  • 90.25 (n)
  • 96.59 (a)
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 36
  • 82 (a)
OneToOne
ABCG4 35
  • 81.71 (n)
  • 87.26 (a)
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 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
Atet 35
  • 62.83 (n)
  • 59.53 (a)
Atet 37
  • 62 (a)
BEST:CK02656 37
  • 48 (a)
CG4822 37
  • 37 (a)
CG5853 37
  • 44 (a)
CG9663 37
  • 48 (a)
CG9892 37
  • 36 (a)
E23 37
  • 36 (a)
st 37
  • 29 (a)
w 37
  • 33 (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
C05D10.3 37
  • 28 (a)
C10C6.5 37
  • 28 (a)
C16C10.12 37
  • 28 (a)
F02E11.1 37
  • 30 (a)
F19B6.4 37
  • 28 (a)
T26A5.1 37
  • 26 (a)
Y47D3A.11 37
  • 27 (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

(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
rs35060365 - 119,157,001(+) ATGCC(C/T)TCCTT reference, missense
rs679111 -- 119,159,292(-) ccagg(C/G)tggtg intron-variant
rs668033 -- 119,152,397(-) CGGCT(G/T)TCCCT intron-variant, upstream-variant-2KB
rs1168815 -- 119,147,313(-) ttgaa(A/G)cgatt upstream-variant-2KB
rs3016857 -- 119,147,121(+) gctga(C/G)tgtgg upstream-variant-2KB

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

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

HapMap Linkage Disequilibrium report
ABCG4

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

Disorders for ABCG4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCG4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
- elite association - COSMIC cancer census association via MalaCards
Search ABCG4 in MalaCards View complete list of genes associated with diseases

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

No data available for 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 23 67
  2. The human ATP-binding cassette (ABC) transporter superfamily. (PMID: 11435397) Dean M. … Allikmets R. (Genome Res. 2001) 2 3
  3. ABCA1, ABCG1, and ABCG4 are distributed to distinct membrane meso-domains and disturb detergent-resistant domains on the plasma membrane. (PMID: 25302608) Sano O. … Matsuo M. (PLoS ONE 2014) 3
  4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3
  5. ABCG2- and ABCG4-mediated efflux of amyloid-I^ peptide 1-40 at the mouse blood-brain barrier. (PMID: 22391220) Do T.M. … Bourasset F. (J. Alzheimers Dis. 2012) 3

Products for ABCG4 Gene

Sources for ABCG4 Gene

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