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ABCD4 (ATP binding cassette subfamily D member 4)

Identity

Alias_namesPXMP1L
ATP-binding cassette, sub-family D (ALD), member 4
Alias_symbol (synonym)PMP69
P70R
EST352188
Other aliasABC41
MAHCJ
P79R
HGNC (Hugo) ABCD4
LocusID (NCBI) 5826
Atlas_Id 60043
Location 14q24.3  [Link to chromosome band 14q24]
Location_base_pair Starts at 74285277 and ends at 74303064 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCD4 (14q24.3) / ACTN4 (19q13.2)ABCD4 (14q24.3) / PRKCE (2p21)ABHD16A (6p21.33) / ABCD4 (14q24.3)

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)ABCD4   68
Cards
Entrez_Gene (NCBI)ABCD4  5826  ATP binding cassette subfamily D member 4
AliasesABC41; EST352188; MAHCJ; P70R; 
P79R; PMP69; PXMP1L
GeneCards (Weizmann)ABCD4
Ensembl hg19 (Hinxton)ENSG00000119688 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119688 [Gene_View]  chr14:74285277-74303064 [Contig_View]  ABCD4 [Vega]
ICGC DataPortalENSG00000119688
TCGA cBioPortalABCD4
AceView (NCBI)ABCD4
Genatlas (Paris)ABCD4
WikiGenes5826
SOURCE (Princeton)ABCD4
Genetics Home Reference (NIH)ABCD4
Genomic and cartography
GoldenPath hg38 (UCSC)ABCD4  -     chr14:74285277-74303064 -  14q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCD4  -     14q24.3   [Description]    (hg19-Feb_2009)
EnsemblABCD4 - 14q24.3 [CytoView hg19]  ABCD4 - 14q24.3 [CytoView hg38]
Mapping of homologs : NCBIABCD4 [Mapview hg19]  ABCD4 [Mapview hg38]
OMIM603214   614857   
Gene and transcription
Genbank (Entrez)AF009746 AK291332 AK297934 AK308382 BC012815
RefSeq transcript (Entrez)NM_005050 NM_020324 NM_020325 NM_020326
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCD4
Cluster EST : UnigeneHs.94395 [ NCBI ]
CGAP (NCI)Hs.94395
Alternative Splicing GalleryENSG00000119688
Gene ExpressionABCD4 [ NCBI-GEO ]   ABCD4 [ EBI - ARRAY_EXPRESS ]   ABCD4 [ SEEK ]   ABCD4 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5826
GTEX Portal (Tissue expression)ABCD4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14678   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14678  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14678
Splice isoforms : SwissVarO14678
PhosPhoSitePlusO14678
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    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)ABCD4
DMDM Disease mutations5826
Blocks (Seattle)ABCD4
SuperfamilyO14678
Human Protein AtlasENSG00000119688
Peptide AtlasO14678
HPRD04446
IPIIPI00023165   IPI01010496   IPI00816230   IPI00384138   IPI01025099   IPI01024887   IPI01026510   IPI01026168   IPI00979145   IPI00977206   IPI00979670   IPI00980997   
Protein Interaction databases
DIP (DOE-UCLA)O14678
IntAct (EBI)O14678
FunCoupENSG00000119688
BioGRIDABCD4
STRING (EMBL)ABCD4
ZODIACABCD4
Ontologies - Pathways
QuickGOO14678
Ontology : AmiGOATP binding  lysosomal membrane  peroxisome  peroxisomal membrane  endoplasmic reticulum membrane  cobalamin metabolic process  cobalamin metabolic process  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  ATP-binding cassette (ABC) transporter complex  transmembrane transport  
Ontology : EGO-EBIATP binding  lysosomal membrane  peroxisome  peroxisomal membrane  endoplasmic reticulum membrane  cobalamin metabolic process  cobalamin metabolic process  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  ATP-binding cassette (ABC) transporter complex  transmembrane transport  
Pathways : KEGGABC transporters    Peroxisome   
NDEx NetworkABCD4
Atlas of Cancer Signalling NetworkABCD4
Wikipedia pathwaysABCD4
Orthology - Evolution
OrthoDB5826
GeneTree (enSembl)ENSG00000119688
Phylogenetic Trees/Animal Genes : TreeFamABCD4
HOVERGENO14678
HOGENOMO14678
Homologs : HomoloGeneABCD4
Homology/Alignments : Family Browser (UCSC)ABCD4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCD4
dbVarABCD4
ClinVarABCD4
1000_GenomesABCD4 
Exome Variant ServerABCD4
ExAC (Exome Aggregation Consortium)ABCD4 (select the gene name)
Genetic variants : HAPMAP5826
Genomic Variants (DGV)ABCD4 [DGVbeta]
DECIPHERABCD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCD4 
Mutations
ICGC Data PortalABCD4 
TCGA Data PortalABCD4 
Broad Tumor PortalABCD4
OASIS PortalABCD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCD4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCD4
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 ABCD4
DgiDB (Drug Gene Interaction Database)ABCD4
DoCM (Curated mutations)ABCD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCD4 (select a term)
intoGenABCD4
Cancer3DABCD4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603214    614857   
Orphanet22453   
MedgenABCD4
Genetic Testing Registry ABCD4
NextProtO14678 [Medical]
TSGene5826
GENETestsABCD4
Target ValidationABCD4
Huge Navigator ABCD4 [HugePedia]
snp3D : Map Gene to Disease5826
BioCentury BCIQABCD4
ClinGenABCD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5826
Chemical/Pharm GKB GenePA24403
Clinical trialABCD4
Miscellaneous
canSAR (ICR)ABCD4 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCD4
EVEXABCD4
GoPubMedABCD4
iHOPABCD4
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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