Human Gene ABCC4 (uc010tih.1) Description and Page Index
  Description: Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 2, mRNA.
RefSeq Summary (NM_001105515): The protein encoded by this gene is a member of 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 MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014].
Transcript (Including UTRs)
   Position: hg19 chr13:95,748,025-95,953,687 Size: 205,663 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr13:95,748,389-95,953,568 Size: 205,180 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:95,748,025-95,953,687)mRNA (may differ from genome)Protein (784 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B7Z3Q7_HUMAN
DESCRIPTION: SubName: Full=Multidrug resistance-associated protein 4; SubName: Full=cDNA FLJ52311, highly similar to Multidrug resistance-associated protein 4;
SIMILARITY: Belongs to the ABC transporter superfamily.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ABCC4
CDC HuGE Published Literature: ABCC4
Positive Disease Associations: Breast cancer , Breath Tests , Diabetic Nephropathies , Erythrocyte Count , Lipoproteins, VLDL , Longevity , Platelet Count , Precursor Cell Lymphoblastic Leukemia-Lymphoma
Related Studies:
  1. Breast cancer
    Murabito ,et al. 2007, A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study, BMC medical genetics 2007 8 Suppl 1 : S6. [PubMed 17903305]
  2. Breath Tests
    , , . [PubMed 0]
  3. Breath Tests
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ABCC4
Diseases sorted by gene-association score: abcc4-related altered drug metabolism* (100), biliary tract disease (14), dubin-johnson syndrome (13), cholestasis (9), unilateral retinoblastoma (6), bile duct disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.04 RPKM in Bladder
Total median expression: 95.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.40119-0.449 Picture PostScript Text
3' UTR -62.97364-0.173 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR003439 - ABC_transporter-like
IPR017871 - ABC_transporter_CS
IPR017940 - ABC_transporter_type1
IPR001140 - ABC_transptr_TM_dom
IPR011527 - ABC_transptrTM_dom_typ1

Pfam Domains:
PF00005 - ABC transporter
PF00664 - ABC transporter transmembrane region

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
90123 - Multidrug resistance ABC transporter MsbA, N-terminal domain

ModBase Predicted Comparative 3D Structure on B7Z3Q7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BX647118 - Homo sapiens mRNA; cDNA DKFZp686O08144 (from clone DKFZp686O08144).
AY081219 - Homo sapiens multidrug resistance-associated protein (ABCC4) mRNA, complete cds.
AF071203 - Homo sapiens ABC transporter MOAT-B isoform (MOAT-B) mRNA, partial cds.
AF071202 - Homo sapiens ABC transporter MOAT-B (MOAT-B) mRNA, complete cds.
AF541977 - Homo sapiens ATP-binding cassette protein C4 splice variant A (ABCC4) mRNA, complete cds; alternatively spliced.
AY207008 - Homo sapiens ATP-binding cassette transporter C4 (ABCC4) mRNA, complete cds.
AK296247 - Homo sapiens cDNA FLJ52311 complete cds, highly similar to Multidrug resistance-associated protein 4.
AK290317 - Homo sapiens cDNA FLJ77042 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4, mRNA.
BC041560 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4, mRNA (cDNA clone MGC:52221 IMAGE:5812052), complete cds.
AB208973 - Homo sapiens mRNA for ABCC4 protein variant protein.
AY133678 - Homo sapiens ATP-binding cassette subfamily C member 4 variant 2 (ABCC4) mRNA, complete cds, alternatively spliced.
AY133679 - Homo sapiens ATP-binding cassette subfamily C member 4 variant 1 (ABCC4) mRNA, complete cds, alternatively spliced.
AY133680 - Homo sapiens ATP-binding cassette subfamily C member 4 variant 3 (ABCC4) mRNA, complete cds, alternatively spliced.
AK298953 - Homo sapiens cDNA FLJ58088 complete cds, highly similar to Multidrug resistance-associated protein 4.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa02010 - ABC transporters

-  Other Names for This Gene
  Alternate Gene Symbols: AK296247, B7Z3Q7, B7Z3Q7_HUMAN, NM_001105515, NP_001098985
UCSC ID: uc010tih.1
RefSeq Accession: NM_001105515
Protein: B7Z3Q7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK296247.1
exon count: 20CDS single in 3' UTR: no RNA size: 2839
ORF size: 2355CDS single in intron: no Alignment % ID: 99.82
txCdsPredict score: 4910.00frame shift in genome: no % Coverage: 99.93
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.