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ABCC4 (ATP binding cassette subfamily C member 4)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)MRP4
EST170205
MOAT-B
MOATB
Other alias
HGNC (Hugo) ABCC4
LocusID (NCBI) 10257
Atlas_Id 541
Location 13q32.1  [Link to chromosome band 13q32]
Location_base_pair Starts at 95095771 and ends at 95301446 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCC4 (13q32.1) / ABCB4 (7q21.12)ABCC4 (13q32.1) / ABCC4 (13q32.1)ABCC4 (13q32.1) / CCDC169 (13q13.3)
ABCC4 (13q32.1) / COL4A2 (13q34)ABCC4 (13q32.1) / DZIP1 (13q32.1)FGFR1OP (6q27) / ABCC4 (13q32.1)
ABCC4 13q32.1 / ABCB4 7q21.12ABCC4 13q32.1 / CCDC169 13q13.3ABCC4 13q32.1 / COL4A2 13q34
FGFR1OP 6q27 / ABCC4 13q32.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ABCC4   55
Cards
Entrez_Gene (NCBI)ABCC4  10257  ATP binding cassette subfamily C member 4
AliasesMOAT-B; MOATB; MRP4
GeneCards (Weizmann)ABCC4
Ensembl hg19 (Hinxton)ENSG00000125257 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125257 [Gene_View]  chr13:95095771-95301446 [Contig_View]  ABCC4 [Vega]
ICGC DataPortalENSG00000125257
TCGA cBioPortalABCC4
AceView (NCBI)ABCC4
Genatlas (Paris)ABCC4
WikiGenes10257
SOURCE (Princeton)ABCC4
Genetics Home Reference (NIH)ABCC4
Genomic and cartography
GoldenPath hg38 (UCSC)ABCC4  -     chr13:95095771-95301446 -  13q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCC4  -     13q32.1   [Description]    (hg19-Feb_2009)
EnsemblABCC4 - 13q32.1 [CytoView hg19]  ABCC4 - 13q32.1 [CytoView hg38]
Mapping of homologs : NCBIABCC4 [Mapview hg19]  ABCC4 [Mapview hg38]
OMIM605250   
Gene and transcription
Genbank (Entrez)AB208973 AF071202 AF071203 AF339763 AF541977
RefSeq transcript (Entrez)NM_001105515 NM_001301829 NM_001301830 NM_005845
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCC4
Cluster EST : UnigeneHs.508423 [ NCBI ]
CGAP (NCI)Hs.508423
Alternative Splicing GalleryENSG00000125257
Gene ExpressionABCC4 [ NCBI-GEO ]   ABCC4 [ EBI - ARRAY_EXPRESS ]   ABCC4 [ SEEK ]   ABCC4 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCC4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10257
GTEX Portal (Tissue expression)ABCC4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15439   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15439  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15439
Splice isoforms : SwissVarO15439
PhosPhoSitePlusO15439
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    ABCC4    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCC4
DMDM Disease mutations
Blocks (Seattle)ABCC4
SuperfamilyO15439
Human Protein AtlasENSG00000125257
Peptide AtlasO15439
HPRD05583
IPIIPI00006675   IPI00908369   IPI01015348   IPI01009908   IPI00954532   IPI00867698   
Protein Interaction databases
DIP (DOE-UCLA)O15439
IntAct (EBI)O15439
FunCoupENSG00000125257
BioGRIDABCC4
STRING (EMBL)ABCC4
ZODIACABCC4
Ontologies - Pathways
QuickGOO15439
Ontology : AmiGOplatelet degranulation  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  biological_process  response to organonitrogen compound  response to organic cyclic compound  ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism  membrane  basolateral plasma membrane  15-hydroxyprostaglandin dehydrogenase (NAD+) activity  platelet dense granule membrane  platelet dense granule membrane  prostaglandin secretion  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase-coupled anion transmembrane transporter activity  positive regulation of smooth muscle cell proliferation  transmembrane transport  transmembrane transport  oxidation-reduction process  cilium assembly  ATP hydrolysis coupled anion transmembrane transport  
Ontology : EGO-EBIplatelet degranulation  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  biological_process  response to organonitrogen compound  response to organic cyclic compound  ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism  membrane  basolateral plasma membrane  15-hydroxyprostaglandin dehydrogenase (NAD+) activity  platelet dense granule membrane  platelet dense granule membrane  prostaglandin secretion  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase-coupled anion transmembrane transporter activity  positive regulation of smooth muscle cell proliferation  transmembrane transport  transmembrane transport  oxidation-reduction process  cilium assembly  ATP hydrolysis coupled anion transmembrane transport  
Pathways : KEGGABC transporters    Bile secretion   
NDEx NetworkABCC4
Atlas of Cancer Signalling NetworkABCC4
Wikipedia pathwaysABCC4
Orthology - Evolution
OrthoDB10257
GeneTree (enSembl)ENSG00000125257
Phylogenetic Trees/Animal Genes : TreeFamABCC4
HOVERGENO15439
HOGENOMO15439
Homologs : HomoloGeneABCC4
Homology/Alignments : Family Browser (UCSC)ABCC4
Gene fusions - Rearrangements
Fusion : MitelmanABCC4/ABCB4 [13q32.1/7q21.12]  
Fusion : MitelmanABCC4/CCDC169 [13q32.1/13q13.3]  [t(13;13)(q13;q32)]  
Fusion : MitelmanABCC4/COL4A2 [13q32.1/13q34]  [t(13;13)(q32;q34)]  
Fusion : MitelmanFGFR1OP/ABCC4 [6q27/13q32.1]  [t(6;13)(q27;q32)]  
Fusion: TCGAABCC4 13q32.1 ABCB4 7q21.12 HNSC
Fusion: TCGAABCC4 13q32.1 CCDC169 13q13.3 PRAD
Fusion: TCGAABCC4 13q32.1 COL4A2 13q34 LUAD
Fusion: TCGAFGFR1OP 6q27 ABCC4 13q32.1 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCC4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCC4
dbVarABCC4
ClinVarABCC4
1000_GenomesABCC4 
Exome Variant ServerABCC4
ExAC (Exome Aggregation Consortium)ABCC4 (select the gene name)
Genetic variants : HAPMAP10257
Genomic Variants (DGV)ABCC4 [DGVbeta]
DECIPHERABCC4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCC4 
Mutations
ICGC Data PortalABCC4 
TCGA Data PortalABCC4 
Broad Tumor PortalABCC4
OASIS PortalABCC4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCC4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCC4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ABCC4
DgiDB (Drug Gene Interaction Database)ABCC4
DoCM (Curated mutations)ABCC4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCC4 (select a term)
intoGenABCC4
Cancer3DABCC4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605250   
Orphanet
MedgenABCC4
Genetic Testing Registry ABCC4
NextProtO15439 [Medical]
TSGene10257
GENETestsABCC4
Target ValidationABCC4
Huge Navigator ABCC4 [HugePedia]
snp3D : Map Gene to Disease10257
BioCentury BCIQABCC4
ClinGenABCC4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10257
Chemical/Pharm GKB GenePA397
Clinical trialABCC4
Miscellaneous
canSAR (ICR)ABCC4 (select the gene name)
Probes
Litterature
PubMed159 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCC4
EVEXABCC4
GoPubMedABCC4
iHOPABCC4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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