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ABCA4 (ATP binding cassette subfamily A member 4)

Identity

Alias_namesSTGD1
ABCR
RP19
STGD
ATP-binding cassette transporter, retinal-specific
ATP-binding cassette, sub-family A (ABC1), member 4
Alias_symbol (synonym)FFM
ARMD2
CORD3
Other aliasABC10
RMP
HGNC (Hugo) ABCA4
LocusID (NCBI) 24
Atlas_Id 53940
Location 1p22.1  [Link to chromosome band 1p22]
Location_base_pair Starts at 93992838 and ends at 94121149 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABCA4 (1p22.1) / MMACHC (1p34.1)BCAR3 (1p22.1) / ABCA4 (1p22.1)PSAP (10q22.1) / ABCA4 (1p22.1)

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)ABCA4   34
Cards
Entrez_Gene (NCBI)ABCA4  24  ATP binding cassette subfamily A member 4
AliasesABC10; ABCR; ARMD2; CORD3; 
FFM; RMP; RP19; STGD; STGD1
GeneCards (Weizmann)ABCA4
Ensembl hg19 (Hinxton)ENSG00000198691 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198691 [Gene_View]  chr1:93992838-94121149 [Contig_View]  ABCA4 [Vega]
ICGC DataPortalENSG00000198691
TCGA cBioPortalABCA4
AceView (NCBI)ABCA4
Genatlas (Paris)ABCA4
WikiGenes24
SOURCE (Princeton)ABCA4
Genetics Home Reference (NIH)ABCA4
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA4  -     chr1:93992838-94121149 -  1p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA4  -     1p22.1   [Description]    (hg19-Feb_2009)
EnsemblABCA4 - 1p22.1 [CytoView hg19]  ABCA4 - 1p22.1 [CytoView hg38]
Mapping of homologs : NCBIABCA4 [Mapview hg19]  ABCA4 [Mapview hg38]
OMIM153800   248200   601691   601718   604116   
Gene and transcription
Genbank (Entrez)AB210040 AF000148 AF001945 AK295818 AK296896
RefSeq transcript (Entrez)NM_000350
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA4
Cluster EST : UnigeneHs.416707 [ NCBI ]
CGAP (NCI)Hs.416707
Alternative Splicing GalleryENSG00000198691
Gene ExpressionABCA4 [ NCBI-GEO ]   ABCA4 [ EBI - ARRAY_EXPRESS ]   ABCA4 [ SEEK ]   ABCA4 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)24
GTEX Portal (Tissue expression)ABCA4
Human Protein AtlasENSG00000198691-ABCA4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78363   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78363  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78363
Splice isoforms : SwissVarP78363
PhosPhoSitePlusP78363
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_A    ABC_transporter-like    ABC_transporter_CS    ABCA4/ABCR    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA4
DMDM Disease mutations24
Blocks (Seattle)ABCA4
SuperfamilyP78363
Human Protein Atlas [tissue]ENSG00000198691-ABCA4 [tissue]
Peptide AtlasP78363
HPRD03408
IPIIPI00297763   IPI01012307   IPI01012790   IPI01013793   IPI01015052   
Protein Interaction databases
DIP (DOE-UCLA)P78363
IntAct (EBI)P78363
FunCoupENSG00000198691
BioGRIDABCA4
STRING (EMBL)ABCA4
ZODIACABCA4
Ontologies - Pathways
QuickGOP78363
Ontology : AmiGOretinoid metabolic process  transporter activity  eye pigment precursor transporter activity  ATP binding  integral component of plasma membrane  phospholipid transfer to membrane  transport  visual perception  phototransduction, visible light  membrane  ATPase activity  ATPase activity, coupled to transmembrane movement of substances  intracellular membrane-bounded organelle  phospholipid translocation  photoreceptor cell maintenance  transmembrane transport  phosphatidylethanolamine-translocating ATPase activity  photoreceptor disc membrane  
Ontology : EGO-EBIretinoid metabolic process  transporter activity  eye pigment precursor transporter activity  ATP binding  integral component of plasma membrane  phospholipid transfer to membrane  transport  visual perception  phototransduction, visible light  membrane  ATPase activity  ATPase activity, coupled to transmembrane movement of substances  intracellular membrane-bounded organelle  phospholipid translocation  photoreceptor cell maintenance  transmembrane transport  phosphatidylethanolamine-translocating ATPase activity  photoreceptor disc membrane  
Pathways : KEGGABC transporters   
NDEx NetworkABCA4
Atlas of Cancer Signalling NetworkABCA4
Wikipedia pathwaysABCA4
Orthology - Evolution
OrthoDB24
GeneTree (enSembl)ENSG00000198691
Phylogenetic Trees/Animal Genes : TreeFamABCA4
HOVERGENP78363
HOGENOMP78363
Homologs : HomoloGeneABCA4
Homology/Alignments : Family Browser (UCSC)ABCA4
Gene fusions - Rearrangements
Fusion : MitelmanBCAR3/ABCA4 [1p22.1/1p22.1]  [t(1;1)(p22;p22)]  
Fusion: Tumor Portal ABCA4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA4
dbVarABCA4
ClinVarABCA4
1000_GenomesABCA4 
Exome Variant ServerABCA4
ExAC (Exome Aggregation Consortium)ENSG00000198691
GNOMAD BrowserENSG00000198691
Genetic variants : HAPMAP24
Genomic Variants (DGV)ABCA4 [DGVbeta]
DECIPHERABCA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA4 
Mutations
ICGC Data PortalABCA4 
TCGA Data PortalABCA4 
Broad Tumor PortalABCA4
OASIS PortalABCA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCA4
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 ABCA4
DgiDB (Drug Gene Interaction Database)ABCA4
DoCM (Curated mutations)ABCA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA4 (select a term)
intoGenABCA4
Cancer3DABCA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM153800    248200    601691    601718    604116   
Orphanet158    659    1843   
MedgenABCA4
Genetic Testing Registry ABCA4
NextProtP78363 [Medical]
TSGene24
GENETestsABCA4
Target ValidationABCA4
Huge Navigator ABCA4 [HugePedia]
snp3D : Map Gene to Disease24
BioCentury BCIQABCA4
ClinGenABCA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD24
Chemical/Pharm GKB GenePA24379
Clinical trialABCA4
Miscellaneous
canSAR (ICR)ABCA4 (select the gene name)
Probes
Litterature
PubMed189 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA4
EVEXABCA4
GoPubMedABCA4
iHOPABCA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:38:39 CET 2017

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