Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CXCR4 (C-X-C motif chemokine receptor 4)

Identity

Alias_nameschemokine (C-X-C motif), receptor 4 (fusin)
chemokine (C-X-C motif) receptor 4
Alias_symbol (synonym)LESTR
NPY3R
HM89
NPYY3R
D2S201E
fusin
HSY3RR
NPYR
CD184
Other aliasFB22
LAP-3
LAP3
LCR1
NPYRL
WHIM
WHIMS
HGNC (Hugo) CXCR4
LocusID (NCBI) 7852
Atlas_Id 40225
Location 2q22.1  [Link to chromosome band 2q22]
Location_base_pair Starts at 136114349 and ends at 136116235 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)
ARGLU1 (13q33.3) / CXCR4 (2q22.1)CXCR4 (2q22.1) / MAML2 (11q21)CXCR4 (2q22.1) / TSC22D3 (Xq22.3)
FOXN2 (2p16.3) / CXCR4 (2q22.1)FTL (19q13.33) / CXCR4 (2q22.1)MGAT4A (2q11.2) / CXCR4 (2q22.1)
ARGLU1 13q33.3 / CXCR4 2q22.1

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Chronic myelogenous leukaemia (CML)


External links

Nomenclature
HGNC (Hugo)CXCR4   2561
LRG (Locus Reference Genomic)LRG_51
Cards
Entrez_Gene (NCBI)CXCR4  7852  C-X-C motif chemokine receptor 4
AliasesCD184; D2S201E; FB22; HM89; 
HSY3RR; LAP-3; LAP3; LCR1; LESTR; NPY3R; NPYR; NPYRL; NPYY3R; WHIM; WHIMS
GeneCards (Weizmann)CXCR4
Ensembl hg19 (Hinxton)ENSG00000121966 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121966 [Gene_View]  chr2:136114349-136116235 [Contig_View]  CXCR4 [Vega]
ICGC DataPortalENSG00000121966
TCGA cBioPortalCXCR4
AceView (NCBI)CXCR4
Genatlas (Paris)CXCR4
WikiGenes7852
SOURCE (Princeton)CXCR4
Genetics Home Reference (NIH)CXCR4
Genomic and cartography
GoldenPath hg38 (UCSC)CXCR4  -     chr2:136114349-136116235 -  2q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CXCR4  -     2q22.1   [Description]    (hg19-Feb_2009)
EnsemblCXCR4 - 2q22.1 [CytoView hg19]  CXCR4 - 2q22.1 [CytoView hg38]
Mapping of homologs : NCBICXCR4 [Mapview hg19]  CXCR4 [Mapview hg38]
OMIM162643   193670   
Gene and transcription
Genbank (Entrez)AF025375 AF147204 AF348491 AK129916 AK296674
RefSeq transcript (Entrez)NM_001008540 NM_001348056 NM_001348059 NM_001348060 NM_003467
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CXCR4
Cluster EST : UnigeneHs.593413 [ NCBI ]
CGAP (NCI)Hs.593413
Alternative Splicing GalleryENSG00000121966
Gene ExpressionCXCR4 [ NCBI-GEO ]   CXCR4 [ EBI - ARRAY_EXPRESS ]   CXCR4 [ SEEK ]   CXCR4 [ MEM ]
Gene Expression Viewer (FireBrowse)CXCR4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7852
GTEX Portal (Tissue expression)CXCR4
Human Protein AtlasENSG00000121966-CXCR4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61073   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61073  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61073
Splice isoforms : SwissVarP61073
PhosPhoSitePlusP61073
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)Chemokine_CXCR4_N_dom    Chemokine_rcpt    CXCR4/ACKR2    GPCR_Rhodpsn    GPCR_Rhodpsn_7TM   
Domain families : Pfam (Sanger)7tm_1 (PF00001)    CXCR4_N (PF12109)   
Domain families : Pfam (NCBI)pfam00001    pfam12109   
Conserved Domain (NCBI)CXCR4
DMDM Disease mutations7852
Blocks (Seattle)CXCR4
PDB (SRS)2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
PDB (PDBSum)2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
PDB (IMB)2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
PDB (RSDB)2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
Structural Biology KnowledgeBase2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
SCOP (Structural Classification of Proteins)2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
CATH (Classification of proteins structures)2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
SuperfamilyP61073
Human Protein Atlas [tissue]ENSG00000121966-CXCR4 [tissue]
Peptide AtlasP61073
HPRD01217
IPIIPI00028159   IPI00216445   IPI00911043   
Protein Interaction databases
DIP (DOE-UCLA)P61073
IntAct (EBI)P61073
FunCoupENSG00000121966
BioGRIDCXCR4
STRING (EMBL)CXCR4
ZODIACCXCR4
Ontologies - Pathways
QuickGOP61073
Ontology : AmiGOactivation of MAPK activity  virus receptor activity  response to hypoxia  dendritic cell chemotaxis  actin binding  G-protein coupled receptor activity  protein binding  cytoplasm  lysosome  early endosome  late endosome  plasma membrane  plasma membrane  apoptotic process  inflammatory response  G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  response to virus  cell surface  coreceptor activity  integral component of membrane  C-X-C chemokine receptor activity  fusion of virus membrane with host plasma membrane  calcium-mediated signaling  C-C chemokine binding  cell junction  entry into host cell  cell leading edge  cytoplasmic vesicle  ubiquitin protein ligase binding  myosin light chain binding  ubiquitin binding  myelin maintenance  protein complex  positive regulation of oligodendrocyte differentiation  regulation of chemotaxis  extracellular exosome  chemokine-mediated signaling pathway  cellular response to cytokine stimulus  
Ontology : EGO-EBIactivation of MAPK activity  virus receptor activity  response to hypoxia  dendritic cell chemotaxis  actin binding  G-protein coupled receptor activity  protein binding  cytoplasm  lysosome  early endosome  late endosome  plasma membrane  plasma membrane  apoptotic process  inflammatory response  G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  response to virus  cell surface  coreceptor activity  integral component of membrane  C-X-C chemokine receptor activity  fusion of virus membrane with host plasma membrane  calcium-mediated signaling  C-C chemokine binding  cell junction  entry into host cell  cell leading edge  cytoplasmic vesicle  ubiquitin protein ligase binding  myosin light chain binding  ubiquitin binding  myelin maintenance  protein complex  positive regulation of oligodendrocyte differentiation  regulation of chemotaxis  extracellular exosome  chemokine-mediated signaling pathway  cellular response to cytokine stimulus  
Pathways : BIOCARTAPertussis toxin-insensitive CCR5 Signaling in Macrophage [Genes]    HIV-1 defeats host-mediated resistance by CEM15 [Genes]    Selective expression of chemokine receptors during T-cell polarization [Genes]    CXCR4 Signaling Pathway [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    Chemokine signaling pathway    Endocytosis    Axon guidance    Leukocyte transendothelial migration    Intestinal immune network for IgA production   
NDEx NetworkCXCR4
Atlas of Cancer Signalling NetworkCXCR4
Wikipedia pathwaysCXCR4
Orthology - Evolution
OrthoDB7852
GeneTree (enSembl)ENSG00000121966
Phylogenetic Trees/Animal Genes : TreeFamCXCR4
HOVERGENP61073
HOGENOMP61073
Homologs : HomoloGeneCXCR4
Homology/Alignments : Family Browser (UCSC)CXCR4
Gene fusions - Rearrangements
Fusion : MitelmanARGLU1/CXCR4 [13q33.3/2q22.1]  [t(2;13)(q22;q33)]  
Fusion : MitelmanCXCR4/MAML2 [2q22.1/11q21]  [t(2;11)(q22;q21)]  
Fusion : MitelmanMGAT4A/CXCR4 [2q11.2/2q22.1]  [t(2;2)(q11;q22)]  
Fusion: TCGA_MDACCARGLU1 13q33.3 CXCR4 2q22.1 PRAD
Tumor Fusion PortalCXCR4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCXCR4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CXCR4
dbVarCXCR4
ClinVarCXCR4
1000_GenomesCXCR4 
Exome Variant ServerCXCR4
ExAC (Exome Aggregation Consortium)ENSG00000121966
GNOMAD BrowserENSG00000121966
Genetic variants : HAPMAP7852
Genomic Variants (DGV)CXCR4 [DGVbeta]
DECIPHERCXCR4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCXCR4 
Mutations
ICGC Data PortalCXCR4 
TCGA Data PortalCXCR4 
Broad Tumor PortalCXCR4
OASIS PortalCXCR4 [ Somatic mutations - Copy number]
Cancer Gene: CensusCXCR4 
Somatic Mutations in Cancer : COSMICCXCR4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCXCR4
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CXCR4
DgiDB (Drug Gene Interaction Database)CXCR4
DoCM (Curated mutations)CXCR4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CXCR4 (select a term)
intoGenCXCR4
Cancer3DCXCR4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162643    193670   
Orphanet10676   
DisGeNETCXCR4
MedgenCXCR4
Genetic Testing Registry CXCR4
NextProtP61073 [Medical]
TSGene7852
GENETestsCXCR4
Target ValidationCXCR4
Huge Navigator CXCR4 [HugePedia]
snp3D : Map Gene to Disease7852
BioCentury BCIQCXCR4
ClinGenCXCR4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7852
Chemical/Pharm GKB GenePA27058
Clinical trialCXCR4
Miscellaneous
canSAR (ICR)CXCR4 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCXCR4
EVEXCXCR4
GoPubMedCXCR4
iHOPCXCR4
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 : Tue Nov 21 14:09:37 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.