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ABCG4 Gene

protein-coding GIFtS: 56
GCID: GC11P119019

ATP-Binding Cassette, Sub-Family G (WHITE), Member 4

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 4¹ ²		Member 4¹
WHITE2² ³ ⁵		Subfamily G¹
Putative ABC Transporter¹ ²		ATP-Binding Cassette Sub-Family G Member 4²
ATP-Binding Cassette¹		ATP-Binding Cassette, Subfamily G, Member 4²

External Ids:	HGNC: 13884¹	Entrez Gene: 64137²	Ensembl: ENSG00000172350⁷	OMIM: 607784⁵	UniProtKB: Q9H172³

Export aliases for ABCG4 gene to outside databases

Previous GC identifers: GC11P135476 GC11P120533 GC11P119054 GC11P118557 GC11P118558 GC11P118524 GC11P114959

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with ABCG4 include dubin-johnson syndrome, and tangier disease. GO annotations related to this gene include ATPase activity and protein homodimerization activity. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot: ABCG4_HUMAN, Q9H172

Function: May be involved in macrophage lipid homeostasis

Gene Wiki entry for ABCG4 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000011.10 NC_018922.2 NT_033899.9

Regulatory elements:

Regulatory transcription factor binding sites in the ABCG4 gene promoter:
GR p300 GR-alpha GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABCG4 promoter sequence

Search Chromatin IP Primers for ABCG4

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCG4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23

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

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P119019: view genomic region (about GC identifiers)

Start:	119,019,722 bp from pter	End:	119,033,375 bp from pter
Size:	13,654 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ABCG4_HUMAN, Q9H172 (See protein sequence)

Recommended Name: ATP-binding cassette sub-family G member 4

Size: 646 amino acids; 71896 Da

Secondary accessions: A8K1B5

Explore the universe of human proteins at neXtProt for ABCG4: NX_Q9H172

Explore proteomics data for ABCG4 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See ABCG4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001135977.1 NP_071452.2

ENSEMBL proteins:

ENSP00000304111 ENSP00000431915 ENSP00000406874 ENSP00000434318 ENSP00000434571

Reactome Protein details: Q9H172

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ABCG4 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

ABCG: ATP binding cassette transporters / subfamily G

IUPHAR Guide to PHARMACOLOGY protein family classification: ABCG4

ABCG subfamily

5 InterPro protein domains:

IPR003439 ABC_transporter-like

IPR027417 P-loop_NTPase

IPR003593 AAA+_ATPase

IPR013525 ABC_2_trans

IPR017871 ABC_transporter_CS

Graphical View of Domain Structure for InterPro Entry Q9H172

ProtoNet protein and cluster: Q9H172

UniProtKB/Swiss-Prot: ABCG4_HUMAN, Q9H172

Similarity: Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204)

subfamily

Similarity: Contains 1 ABC transmembrane type-2 domain

Similarity: Contains 1 ABC transporter domain

ABCG4 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ABCG4_HUMAN, Q9H172

Function: May be involved in macrophage lipid homeostasis

Gene Ontology (GO): Selected molecular function terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0005515	protein binding	IPI	16870176
GO:0005524	ATP binding	IEA	--
GO:0016887	ATPase activity	IEA	--
GO:0017111	nucleoside-triphosphatase activity	--	--

ABCG4 for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Abcg4):

cellular

homeostasis/metabolism

ABCG4 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCG4

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCG4

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCG4

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCG4

miRNA Products:		miRTarBase miRNAs that target ABCG4: hsa-mir-26b-5p (MIRT030047)

		Block miRNA regulation of human, mouse, rat ABCG4 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ABCG4 (see all 64):
		hsa-miR-142-5p hsa-miR-1321 hsa-miR-15a hsa-miR-106a hsa-miR-605 hsa-miR-25 hsa-miR-346 hsa-miR-218

		SwitchGear 3'UTR luciferase reporter plasmid: ABCG4 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG4

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ABCG4_HUMAN, Q9H172: Membrane; Multi-pass membrane protein (Probable)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	4
peroxisome	2
endoplasmic reticulum	1
endosome	1
extracellular	1
nucleus	1

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	--	--
GO:0016021	integral component of membrane	IEA	--

ABCG4 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ABCG4 About

See pathways by source

SuperPath

Contained pathways About

ABC-family proteins mediated transport

	ABC-family proteins mediated transport	0.69			ABCA transporters in lipid homeostasis	0.00
	ABC transporters	0.69

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds

Transmembrane transport of small molecules

0.47

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for ABCG4

ABCA transporters in lipid homeostasis

1 Kegg Pathway (Kegg details for ABCG4):

ABC transporters

ABCG4 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for ABCG4
Interactions:

Search GeneGlobe Interaction Network for ABCG4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ABCG4 (Q9H172^{1, 2, 3} ENSP00000304111⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 94)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AP3D1	O14617³, ENSP00000344055⁴	I2D: score=1 STRING: ENSP00000344055
CSTF3	Q12996³, ENSP00000315791⁴	I2D: score=1 STRING: ENSP00000315791
EED	O75530³, ENSP00000263360⁴	I2D: score=1 STRING: ENSP00000263360
MTF2	Q9Y483³, ENSP00000359321⁴	I2D: score=1 STRING: ENSP00000359321
RERE	Q9P2R6³, ENSP00000338629⁴	I2D: score=1 STRING: ENSP00000338629

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Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0033344	cholesterol efflux	TAS	16682745
GO:0055085	transmembrane transport	TAS	--

ABCG4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ABCG4

1 Novoseek inferred chemical compound relationship for ABCG4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cholesterol	0	2	11856881 (2)

ABCG4 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ABCG4 gene (2 alternative transcripts):

NM_001142505.1 NM_022169.4

Unigene Cluster for ABCG4:

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

Hs.126378 [show with all ESTs]

Unigene Representative Sequence: NM_022169

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000307417(uc001pvs.3 uc009zar.3) ENST00000524604 ENST00000449422

ENST00000531739 ENST00000533694 ENST00000534402

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat ABCG4 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ABCG4 (see all 64):
		hsa-miR-142-5p hsa-miR-1321 hsa-miR-15a hsa-miR-106a hsa-miR-605 hsa-miR-25 hsa-miR-346 hsa-miR-218

		SwitchGear 3'UTR luciferase reporter plasmid: ABCG4 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ABCG4
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		GenScript: all cDNA clones in your preferred vector (see all 2): ABCG4 (NM_022169)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCG4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG4

Primer Products:		OriGene qPCR primer pairs and template standards for ABCG4 OriGene qSTAR qPCR primer pairs in human, mouse for ABCG4
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ABCG4
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		QuantiFast Probe-based Assays in human, mouse, rat ABCG4

Additional mRNA sequence:

AJ300465.1 AJ308237.1 AJ308238.1 AJ308239.1 AJ308240.1 AJ308242.1 AJ308243.1 AJ308244.1

AJ308245.1 AJ308246.1 AJ308247.1 AJ308248.1 AJ308249.1 AJ308250.1 AJ308251.1 AK289830.1

AK290035.1 AK308673.1 AL137563.1 BC041091.1

2 DOTS entries:

DT.40126479 DT.120679650

23 AceView cDNA sequences:

AJ308238 AJ308243 AJ308240 AJ308246 AJ308247 NM_022169 AJ308248 AL137563

BC041091 BQ636356 AJ308242 AJ308245 AJ300465 AJ308250 AJ308237 AJ308244

AJ308249 AJ308251 AA912226 BM925745 BM692180 BX332307 AJ308239

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ABCG4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCTGGCTTTC

About this image

ABCG4 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 4) fully expand


Liver (Hepatobiliary System)
Liver Lobule

Blood (Hematopoietic System)
Proerythroblasts Hematopoietic Bone Marrow

Neural Tube (Nervous System)
Telencephalon

Brain (Nervous System)
Cerebral Cortex

ABCG4 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ABCG4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.126378

Custom PCR Arrays for ABCG4

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCG4 gene from Selected species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Abcg4^{1 , 5}	ATP-binding cassette, sub-family G (WHITE), member 4 less^{1, 5}	90.25(n)¹ 96.59(a)¹		9 (24.84 cM)⁵ 192663¹ NM_138955.3¹ NP_620405.3¹ 44273188⁵
chicken (Gallus gallus)	Aves	ABCG4¹	ATP-binding cassette, sub-family G (WHITE), member 4 less	81.71(n) 87.26(a)		428242 XM_004948047.1 XP_004948104.1
lizard (Anolis carolinensis)	Reptilia	ABCG4⁶	ATP-binding cassette, sub-family G (WHITE), member...	87(a)	1 ↔ 1	GL343722.1(47680-93838)
tropical clawed frog (Xenopus tropicalis)	Amphibia	abcg4¹	ATP-binding cassette, sub-family G (WHITE), member 4 less	71.6(n) 83.62(a)		101734071 XM_004916052.1 XP_004916109.1
zebrafish (Danio rerio)	Actinopterygii	abcg4¹	ATP-binding cassette, sub-family G (WHITE), member 4 less	73.46(n) 80.72(a)		564842 XM_682593.4 XP_687685.2
fruit fly (Drosophila melanogaster)	Insecta	Atet^{1 , 3}	ATP-binding cassette (ABC) transporter³ ABC transporter expressed in trachea¹	62(a) (best of 9)³ 62.83(n)¹ 59.53(a)¹		33636¹ NM_001103608.2¹ NP_001097078.1¹
worm (Caenorhabditis elegans)	Secernentea	F02E11.1³	ABC transpoter	30(a) (best of 7)		II(3279207-3281668) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ADP1⁶	Putative ATP-dependent permease of the ABC transpo...	16(a)	1 → many	III(133724-136873) YCR011C
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G27420¹	AT4G27420	43.06(n) 34.17(a)		828850 NM_118876.4 NP_194472.3
rice (Oryza sativa)	Liliopsida	Os.7232²	Oryza sativa (japonica cultivar-group) cDNA cloneJ023051G10, full insert sequence less	75.12(n)		AK068591.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ABCG4 gene

ABCG1² ABCG8² ABCG5² ABCG2²

5 SIMAP similar genes for ABCG4 using alignment to 6 protein entries: ABCG4_HUMAN (see all proteins):

DKFZp434P1420 white ABCG1 ABCB4 ABCG2

ABCG4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190362634^1,2		--	114957265(+)	`GCCTGC/TAATCA`	1	--	us2k¹		0	--	--	--	--
rs139335079^1,2		--	114957274(+)	`CACAGC/TACTTT`	1	--	us2k¹		0	--	--	--	--
rs182059685^1,2		--	114957313(+)	`GGTCAG/TGAATT`	1	--	us2k¹		0	--	--	--	--
rs1168815^1,2	C,F,A	--	114957438(-)	`ttgaaG/Acgatt`	1	--	us2k¹		6		NA WA CSA	11
rs11606323^1,2	H	--	114957547(+)	`aaagaA/Gagaaa`	1	--	us2k¹ trp³		0	--	--	--	--
rs142693589^1,2	C	--	114957551(+)	`GAGAA-/AGAGAG AGAGA`	1	--	cds¹		0	--	--	--	--
rs11606325^1,2	H	--	114957559(+)	`agagaA/Gagaga`	1	--	us2k¹ trp³		0	--	--	--	--
rs11602087^1,2	H	--	114957573(+)	`aaagaA/Gagaga`	1	--	us2k¹ trp³		0	--	--	--	--
rs368869138^1,2	C	--	114957589(+)	`AAGAA-/GGAAAG`	1	--	us2k¹		0	--	--	--	--
rs377716192^1,2	C	--	114957590(+)	`gaaag-/A/AAAA gaaag`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ABCG4 (119019722 - 119033375 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for ABCG4: About this table

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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing ABCG4

DNA2.0 Custom Variant and Variant Library Synthesis for ABCG4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607784 OMIM disorders: --

13 diseases for ABCG4:
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dubin-johnson syndrome tangier disease zellweger syndrome cone-rod dystrophy

adrenoleukodystrophy retinal degeneration down syndrome pneumonia

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ABCG4 for disorders About GeneDecksing

Genetic Association Database (GAD): ABCG4
Human Genome Epidemiology (HuGE) Navigator: ABCG4 (6 documents)

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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ABCG4 gene, integrated from 10 sources (see all 41):
(articles sorted by number of sources associating them with ABCG4)

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Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)^{1, 4} McGeachie M....Ramoni M.F. (Circulation 2009)
Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)^{1, 4} Saito A....Kamatani N. (J. Hum. Genet. 2009)
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)^{1, 4} Lu Y....Boer J.M. (J. Lipid Res. 2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
ABCG4: a novel human white family ABC-transporter expressed in the brain and eye. (PubMed id 12183068)^{1, 2} Oldfield S.... Lightman S. (Biochim. Biophys. Acta 2002)
The human ATP-binding cassette (ABC) transporter superfamily. (PubMed id 11435397)^{1, 3} Dean M....Allikmets R. (Genome Res. 2001)
The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages. (PubMed id 11606068)^{1, 2} Engel T.... Assmann G. (Biochem. Biophys. Res. Commun. 2001)
Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4. (PubMed id 11856881)^{1, 9} Annilo T....Allikmets R. (Cytogenet. Cell Genet. 2001)
ABCG2- and ABCG4-mediated efflux of amyloid-I^ peptide 1-40 at the mouse blood-brain barrier. (PubMed id 22391220)¹ Do T.M....Bourasset F. (J. Alzheimers Dis. 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 64137	HGNC: 13884	AceView: ABCG4	Ensembl:ENSG00000172350	euGenes: HUgn64137
ECgene: ABCG4	Kegg: 64137	H-InvDB: ABCG4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ABCG4	Pharmacogenomics, SNPs, Pathways
ABCMdb	http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H172

Intellectual Property for ABCG4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ABCG4 gene:
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ABCG4 Gene

ATP-Binding Cassette, Sub-Family G (WHITE), Member 4

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ABCG4 Gene

ATP-Binding Cassette, Sub-Family G (WHITE), Member 4

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