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ABCD2 (ATP binding cassette subfamily D member 2)

Identity

Alias_namesALDL1
ATP-binding cassette, sub-family D (ALD), member 2
Alias_symbol (synonym)ALDR
ALDRP
Other aliasABC39
hALDR
HGNC (Hugo) ABCD2
LocusID (NCBI) 225
Atlas_Id 60041
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 39551220 and ends at 39620041 bp from pter ( according to hg38-Dec_2013)

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)ABCD2   66
Cards
Entrez_Gene (NCBI)ABCD2  225  ATP binding cassette subfamily D member 2
AliasesABC39; ALDL1; ALDR; ALDRP; 
hALDR
GeneCards (Weizmann)ABCD2
Ensembl hg19 (Hinxton)ENSG00000173208 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173208 [Gene_View]  chr12:39551220-39620041 [Contig_View]  ABCD2 [Vega]
ICGC DataPortalENSG00000173208
TCGA cBioPortalABCD2
AceView (NCBI)ABCD2
Genatlas (Paris)ABCD2
WikiGenes225
SOURCE (Princeton)ABCD2
Genetics Home Reference (NIH)ABCD2
Genomic and cartography
GoldenPath hg38 (UCSC)ABCD2  -     chr12:39551220-39620041 -  12q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCD2  -     12q12   [Description]    (hg19-Feb_2009)
EnsemblABCD2 - 12q12 [CytoView hg19]  ABCD2 - 12q12 [CytoView hg38]
Mapping of homologs : NCBIABCD2 [Mapview hg19]  ABCD2 [Mapview hg38]
OMIM601081   
Gene and transcription
Genbank (Entrez)AJ000327 AK314254 BC104901 BC104903 DB259336
RefSeq transcript (Entrez)NM_005164
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCD2
Cluster EST : UnigeneHs.117852 [ NCBI ]
CGAP (NCI)Hs.117852
Alternative Splicing GalleryENSG00000173208
Gene ExpressionABCD2 [ NCBI-GEO ]   ABCD2 [ EBI - ARRAY_EXPRESS ]   ABCD2 [ SEEK ]   ABCD2 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)225
GTEX Portal (Tissue expression)ABCD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBJ2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBJ2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBJ2
Splice isoforms : SwissVarQ9UBJ2
PhosPhoSitePlusQ9UBJ2
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    ABCD2    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane_2 (PF06472)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam06472    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCD2
DMDM Disease mutations225
Blocks (Seattle)ABCD2
SuperfamilyQ9UBJ2
Human Protein AtlasENSG00000173208
Peptide AtlasQ9UBJ2
HPRD03051
IPIIPI00002618   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBJ2
IntAct (EBI)Q9UBJ2
FunCoupENSG00000173208
BioGRIDABCD2
STRING (EMBL)ABCD2
ZODIACABCD2
Ontologies - Pathways
QuickGOQ9UBJ2
Ontology : AmiGOvery long-chain fatty acid metabolic process  long-chain fatty acid transporter activity  protein binding  ATP binding  peroxisome  peroxisomal membrane  cytosol  fatty acid beta-oxidation  long-chain fatty acid transport  integral component of membrane  positive regulation of fatty acid beta-oxidation  ATPase activity, coupled to transmembrane movement of substances  very long-chain fatty acid catabolic process  protein homodimerization activity  transmembrane transport  
Ontology : EGO-EBIvery long-chain fatty acid metabolic process  long-chain fatty acid transporter activity  protein binding  ATP binding  peroxisome  peroxisomal membrane  cytosol  fatty acid beta-oxidation  long-chain fatty acid transport  integral component of membrane  positive regulation of fatty acid beta-oxidation  ATPase activity, coupled to transmembrane movement of substances  very long-chain fatty acid catabolic process  protein homodimerization activity  transmembrane transport  
Pathways : BIOCARTANuclear Receptors in Lipid Metabolism and Toxicity [Genes]   
Pathways : KEGGABC transporters    Peroxisome   
NDEx NetworkABCD2
Atlas of Cancer Signalling NetworkABCD2
Wikipedia pathwaysABCD2
Orthology - Evolution
OrthoDB225
GeneTree (enSembl)ENSG00000173208
Phylogenetic Trees/Animal Genes : TreeFamABCD2
HOVERGENQ9UBJ2
HOGENOMQ9UBJ2
Homologs : HomoloGeneABCD2
Homology/Alignments : Family Browser (UCSC)ABCD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCD2
dbVarABCD2
ClinVarABCD2
1000_GenomesABCD2 
Exome Variant ServerABCD2
ExAC (Exome Aggregation Consortium)ABCD2 (select the gene name)
Genetic variants : HAPMAP225
Genomic Variants (DGV)ABCD2 [DGVbeta]
DECIPHERABCD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCD2 
Mutations
ICGC Data PortalABCD2 
TCGA Data PortalABCD2 
Broad Tumor PortalABCD2
OASIS PortalABCD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCD2
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABCD2
DgiDB (Drug Gene Interaction Database)ABCD2
DoCM (Curated mutations)ABCD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCD2 (select a term)
intoGenABCD2
Cancer3DABCD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601081   
Orphanet
MedgenABCD2
Genetic Testing Registry ABCD2
NextProtQ9UBJ2 [Medical]
TSGene225
GENETestsABCD2
Target ValidationABCD2
Huge Navigator ABCD2 [HugePedia]
snp3D : Map Gene to Disease225
BioCentury BCIQABCD2
ClinGenABCD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD225
Chemical/Pharm GKB GenePA24401
Clinical trialABCD2
Miscellaneous
canSAR (ICR)ABCD2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCD2
EVEXABCD2
GoPubMedABCD2
iHOPABCD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:37:03 CEST 2017

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