Aliases for ABCG4 Gene
Aliases for ABCG4 Gene
External Ids for ABCG4 Gene
- HGNC: 13884
- Entrez Gene: 64137
- Ensembl: ENSG00000172350
- OMIM: 607784
- UniProtKB: Q9H172
Previous GeneCards Identifiers for ABCG4 Gene
- GC11P135476
- GC11P120533
- GC11P119054
- GC11P118557
- GC11P118558
- GC11P118524
- GC11P119019
- GC11P114959
Summaries 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 ABC-family proteins mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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.
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
Enhancers for ABCG4 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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 |
|---|
ENSRs around ABCG4 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ABCG4 gene promoter:
Regulatory Element Products
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:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23 by HGNC
ABCG4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A8K1B5
- Q8WWH0
- Q8WWH1
- Q8WWH2
Protein attributes for ABCG4 Gene
- Size:
- 646 amino acids
- Molecular mass:
- 71896 Da
- Quaternary structure:
- No Data Available
Protein Expression for ABCG4 Gene
Post-translational modifications for ABCG4 Gene
Other Protein References for ABCG4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for ABCG4
-
Custom Antibody ServicesOriGene Antibodies for ABCG4
- Novus Biologicals Antibodies for ABCG4
- Invitrogen Antibodies for ABCG4
- antibodies-online Antibodies for ABCG4: See all 48
- GeneTex ABCG4 antibody for ABCG4
-
Santa Cruz Biotechnology (SCBT) Antibodies for ABCG4
Protein Products
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- Search GeneTex for Proteins for ABCG4
Assay Products
- antibodies-online Kits for ABCG4: See all 8
No data available for DME Specific Peptides for ABCG4 Gene
Domains & Families for ABCG4 Gene
Gene Families for ABCG4 Gene
- HGNC:
- IUPHAR :
Protein Domains for ABCG4 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ABCG4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H172UniProtKB/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.
Function for ABCG4 Gene
Molecular function for ABCG4 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in macrophage lipid homeostasis.
| 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 |
Phenotypes for ABCG4 Gene
- MGI mutant phenotypes for ABCG4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ABCG4:
Animal Models for ABCG4 Gene
- MGI Knock Outs for ABCG4:
-
- Abcg4 tm1Dgen
Animal Model Products
-
Taconic Biosciences Mouse Models for ABCG4
-
ViGene Biosciences lentiviral particle packaged cDNA for ABCG4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ABCG4 gene
- Search ViGene Biosciences for ABCG4
CRISPR Products
-
OriGene CRISPR knockouts for ABCG4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCG4
- GenScript: Design CRISPR guide RNA sequences for ABCG4
miRNA for ABCG4 Gene
- miRTarBase miRNAs that target ABCG4
miRNA Products
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Clone Products
- OriGene clones in human for ABCG4
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Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for ABCG4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ABCG4 gene
-
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Flow Cytometry 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.
| 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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ABCG4 Gene
More details on SuperPathways for ABCG4| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | ABC-family proteins mediated transport |
.64
|
|
| 2 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
Pathways by source for ABCG4 Gene
3 Reactome pathways for ABCG4 Gene
1 KEGG pathway for ABCG4 Gene
Interacting Proteins for ABCG4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0033344 | cholesterol efflux | TAS | 16682745 |
No data available for SIGNOR curated interactions for ABCG4 Gene
Transcripts for ABCG4 Gene
mRNA/cDNA for ABCG4 Gene
- (3) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (23) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ABCG4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ABCG4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCG4
- GenScript: Design CRISPR guide RNA sequences for ABCG4
miRNA Products
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Clone Products
- OriGene clones in human for ABCG4
- OriGene ORF clones in human,mouse,rat for ABCG4
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for ABCG4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Neural Tube (Nervous System)
- Liver (Hepatobiliary System)
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).
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.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for ABCG4
-
OriGene qPCR primer pairs and template standards for ABCG4
Orthologs for ABCG4 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | ABCG4 35 |
|
||
| ABCG4 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | ABCG4 35 |
|
||
| ABCG4 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Abcg4 35 |
|
||
| Abcg4 16 |
|
||||
| Abcg4 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | ABCG4 35 |
|
||
| ABCG4 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Abcg4 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ABCG4 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ABCG4 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ABCG4 35 |
|
||
| ABCG4 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | ABCG4 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | abcg4 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | abcg4 35 |
|
||
| abcg4a 36 |
|
OneToMany | |||
| abcg4b 36 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Atet 37 |
|
|
|
| BEST:CK02656 37 |
|
|
|||
| CG4822 37 |
|
|
|||
| CG5853 37 |
|
|
|||
| CG9663 37 |
|
|
|||
| CG9892 37 |
|
|
|||
| E23 37 |
|
|
|||
| st 37 |
|
|
|||
| w 37 |
|
|
|||
| Atet 35 |
|
||||
| Atet 36 |
|
ManyToMany | |||
| CG17646 36 |
|
ManyToMany | |||
| CG3164 36 |
|
ManyToMany | |||
| CG31689 36 |
|
ManyToMany | |||
| CG32091 36 |
|
ManyToMany | |||
| CG4822 36 |
|
ManyToMany | |||
| CG5853 36 |
|
ManyToMany | |||
| CG9663 36 |
|
ManyToMany | |||
| CG9664 36 |
|
ManyToMany | |||
| E23 36 |
|
ManyToMany | |||
| st 36 |
|
ManyToMany | |||
| w 36 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001858 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C05D10.3 37 |
|
|
|
| C10C6.5 37 |
|
|
|||
| C16C10.12 37 |
|
|
|||
| F02E11.1 37 |
|
|
|||
| F19B6.4 37 |
|
|
|||
| T26A5.1 37 |
|
|
|||
| Y47D3A.11 37 |
|
|
|||
| wht-2 36 |
|
ManyToMany | |||
| wht-3 36 |
|
ManyToMany | |||
| wht-4 36 |
|
ManyToMany | |||
| wht-5 36 |
|
ManyToMany | |||
| wht-6 36 |
|
ManyToMany | |||
| wht-8 36 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ADP1 36 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G27420 35 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os.7232 35 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.681 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
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)
Paralogs for ABCG4 Gene
(5) SIMAP similar genes for ABCG4 Gene using alignment to 6 proteins:
Variants for ABCG4 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs35060365 | - | 119,157,001(+) | ATGCC(C/T)TCCTT | reference, missense | |
| rs588545 | -- | 119,150,705(-) | ggcct(C/T)agttt | intron-variant | |
| rs609034 | -- | 119,156,440(-) | AACAT(C/T)TCAAA | reference, synonymous-codon | |
| rs626776 | -- | 119,158,103(-) | ATCTT(C/G)TACCA | intron-variant | |
| rs637221 | -- | 119,154,648(-) | TCCCA(A/C)TCCCA | intron-variant |
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)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ABCG4 Gene
Disorders for ABCG4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macular degeneration, age-related, 1 |
|
|
Search ABCG4 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for ABCG4
No data available for UniProtKB/Swiss-Prot and Genatlas for ABCG4 Gene
Publications for ABCG4 Gene
- 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
- The human ATP-binding cassette (ABC) transporter superfamily. (PMID: 11435397) Dean M. … Allikmets R. (Genome Res. 2001) 2 3
- The E3 ubiquitin ligases, HUWE1 and NEDD4-1, are involved in the post-translational regulation of the ABCG1 and ABCG4 lipid transporters. (PMID: 26296893) Aleidi S.M. … Gelissen I.C. (J. Biol. Chem. 2015) 3
- 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
- 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
Products for ABCG4 Gene
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- OriGene qPCR primer pairs for ABCG4
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- antibodies-online Antibodies for ABCG4: See all 48
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- Search antibodies-online for proteins
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- ViGene Biosciences adenoviral particle packaged cDNA for ABCG4 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for ABCG4 gene
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- Search ViGene Biosciences for ABCG4
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- Santa Cruz Biotechnology (SCBT) CRISPR for ABCG4
Sources for ABCG4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon