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LDLRAD4 (low density lipoprotein receptor class A domain containing 4)

Identity

Alias (NCBI)C18orf1
HGNC (Hugo) LDLRAD4
HGNC Alias nameclone 22
HGNC Previous nameC18orf1
HGNC Previous namechromosome 18 open reading frame 1
LocusID (NCBI) 753
Atlas_Id 54867
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 13218760 and ends at 13652751 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)
LDLRAD4 (18p11.21) / IMPA2 (18p11.21)LDLRAD4 (18p11.21) / NOVA1 (14q12)LDLRAD4 (18p11.21) / PHACTR3 (20q13.32)
PARD6G (18q23) / LDLRAD4 (18p11.21)PREP (6q21) / LDLRAD4 (18p11.21)RUNX1 (21q22.12) / LDLRAD4 (18p11.21)

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  del(18)(p11)
t(18;20)(p11;q13) LDLRAD4/PHACTR3


External links

 

Nomenclature
HGNC (Hugo)LDLRAD4   1224
Cards
Entrez_Gene (NCBI)LDLRAD4    low density lipoprotein receptor class A domain containing 4
AliasesC18orf1
GeneCards (Weizmann)LDLRAD4
Ensembl hg19 (Hinxton)ENSG00000168675 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168675 [Gene_View]  ENSG00000168675 [Sequence]  chr18:13218760-13652751 [Contig_View]  LDLRAD4 [Vega]
ICGC DataPortalENSG00000168675
TCGA cBioPortalLDLRAD4
AceView (NCBI)LDLRAD4
Genatlas (Paris)LDLRAD4
SOURCE (Princeton)LDLRAD4
Genetics Home Reference (NIH)LDLRAD4
Genomic and cartography
GoldenPath hg38 (UCSC)LDLRAD4  -     chr18:13218760-13652751 +  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LDLRAD4  -     18p11.21   [Description]    (hg19-Feb_2009)
GoldenPathLDLRAD4 - 18p11.21 [CytoView hg19]  LDLRAD4 - 18p11.21 [CytoView hg38]
ImmunoBaseENSG00000168675
Genome Data Viewer NCBILDLRAD4 [Mapview hg19]  
OMIM606571   
Gene and transcription
Genbank (Entrez)AA310737 AF009424 AF009425 AF009426 AF009427
RefSeq transcript (Entrez)NM_001003674 NM_001003675 NM_001276249 NM_001276251 NM_001378098 NM_001378099 NM_001378100 NM_001378101 NM_001394662 NM_001394663 NM_001394664 NM_001394665 NM_001394666 NM_001394667 NM_004338 NM_181481 NM_181482 NM_181483
Consensus coding sequences : CCDS (NCBI)LDLRAD4
Gene ExpressionLDLRAD4 [ NCBI-GEO ]   LDLRAD4 [ EBI - ARRAY_EXPRESS ]   LDLRAD4 [ SEEK ]   LDLRAD4 [ MEM ]
Gene Expression Viewer (FireBrowse)LDLRAD4 [ Firebrowse - Broad ]
GenevisibleExpression of LDLRAD4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)753
GTEX Portal (Tissue expression)LDLRAD4
Human Protein AtlasENSG00000168675-LDLRAD4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15165   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15165  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15165
PhosPhoSitePlusO15165
Domaine pattern : Prosite (Expaxy)LDLRA_1 (PS01209)    LDLRA_2 (PS50068)   
Domains : Interpro (EBI)LDL_receptor-like_sf    LDLR_class-A_CS    LDrepeatLR_classA_rpt    TMEPAI/LRAD4   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)   
Domain families : Pfam (NCBI)pfam00057   
Domain families : Smart (EMBL)LDLa (SM00192)  
Conserved Domain (NCBI)LDLRAD4
SuperfamilyO15165
AlphaFold pdb e-kbO15165   
Human Protein Atlas [tissue]ENSG00000168675-LDLRAD4 [tissue]
HPRD07358
Protein Interaction databases
DIP (DOE-UCLA)O15165
IntAct (EBI)O15165
BioGRIDLDLRAD4
STRING (EMBL)LDLRAD4
ZODIACLDLRAD4
Ontologies - Pathways
QuickGOO15165
Ontology : AmiGOGolgi membrane  negative regulation of epithelial to mesenchymal transition  negative regulation of SMAD protein complex assembly  negative regulation of SMAD protein complex assembly  integral component of membrane  negative regulation of cell migration  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  early endosome membrane  intracellular membrane-bounded organelle  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  R-SMAD binding  R-SMAD binding  
Ontology : EGO-EBIGolgi membrane  negative regulation of epithelial to mesenchymal transition  negative regulation of SMAD protein complex assembly  negative regulation of SMAD protein complex assembly  integral component of membrane  negative regulation of cell migration  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  early endosome membrane  intracellular membrane-bounded organelle  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  R-SMAD binding  R-SMAD binding  
NDEx NetworkLDLRAD4
Atlas of Cancer Signalling NetworkLDLRAD4
Wikipedia pathwaysLDLRAD4
Orthology - Evolution
OrthoDB753
GeneTree (enSembl)ENSG00000168675
Phylogenetic Trees/Animal Genes : TreeFamLDLRAD4
Homologs : HomoloGeneLDLRAD4
Homology/Alignments : Family Browser (UCSC)LDLRAD4
Gene fusions - Rearrangements
Fusion : MitelmanLDLRAD4/IMPA2 [18p11.21/18p11.21]  
Fusion : MitelmanLDLRAD4/NOVA1 [18p11.21/14q12]  
Fusion : MitelmanPARD6G/LDLRAD4 [18q23/18p11.21]  
Fusion : MitelmanPREP/LDLRAD4 [6q21/18p11.21]  
Fusion : QuiverLDLRAD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLDLRAD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LDLRAD4
dbVarLDLRAD4
ClinVarLDLRAD4
MonarchLDLRAD4
1000_GenomesLDLRAD4 
Exome Variant ServerLDLRAD4
GNOMAD BrowserENSG00000168675
Varsome BrowserLDLRAD4
ACMGLDLRAD4 variants
VarityO15165
Genomic Variants (DGV)LDLRAD4 [DGVbeta]
DECIPHERLDLRAD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLDLRAD4 
Mutations
ICGC Data PortalLDLRAD4 
TCGA Data PortalLDLRAD4 
Broad Tumor PortalLDLRAD4
OASIS PortalLDLRAD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLDLRAD4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DLDLRAD4
Mutations and Diseases : HGMDLDLRAD4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLDLRAD4
DgiDB (Drug Gene Interaction Database)LDLRAD4
DoCM (Curated mutations)LDLRAD4
CIViC (Clinical Interpretations of Variants in Cancer)LDLRAD4
Cancer3DLDLRAD4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606571   
Orphanet
DisGeNETLDLRAD4
MedgenLDLRAD4
Genetic Testing Registry LDLRAD4
NextProtO15165 [Medical]
GENETestsLDLRAD4
Target ValidationLDLRAD4
Huge Navigator LDLRAD4 [HugePedia]
ClinGenLDLRAD4
Clinical trials, drugs, therapy
MyCancerGenomeLDLRAD4
Protein Interactions : CTDLDLRAD4
Pharm GKB GenePA25593
PharosO15165
Clinical trialLDLRAD4
Miscellaneous
canSAR (ICR)LDLRAD4
HarmonizomeLDLRAD4
DataMed IndexLDLRAD4
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLDLRAD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:15:43 CEST 2021

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