Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias (NCBI)CD184
D2S201E
FB22
HM89
HSY3RR
LAP-3
LAP3
LCR1
LESTR
NPY3R
NPYR
NPYRL
NPYY3R
WHIM
WHIMS
HGNC (Hugo) CXCR4
HGNC Alias symbLESTR
NPY3R
HM89
NPYY3R
D2S201E
fusin
HSY3RR
NPYR
CD184
HGNC Previous namechemokine (C-X-C motif), receptor 4 (fusin)
 chemokine (C-X-C motif) receptor 4
LocusID (NCBI) 7852
Atlas_Id 40225
Location 2q22.1  [Link to chromosome band 2q22]
Location_base_pair Starts at 136114349 and ends at 136118149 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) [ 6 ]
  B-cell Prolymphocytic Leukemia
Chronic myelogenous leukaemia (CML)
t(2;2)(q11;q22) MGAT4A/CXCR4
t(2;2)(q22;q22) ZEB2/CXCR4
t(2;11)(q22;q21) CXCR4/MAML2
Waldenstrom macroglobulinemia


External links

 

Nomenclature
HGNC (Hugo)CXCR4   2561
LRG (Locus Reference Genomic)LRG_51
Cards
Entrez_Gene (NCBI)CXCR4    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]  ENSG00000121966 [Sequence]  chr2:136114349-136118149 [Contig_View]  CXCR4 [Vega]
ICGC DataPortalENSG00000121966
TCGA cBioPortalCXCR4
AceView (NCBI)CXCR4
Genatlas (Paris)CXCR4
SOURCE (Princeton)CXCR4
Genetics Home Reference (NIH)CXCR4
Genomic and cartography
GoldenPath hg38 (UCSC)CXCR4  -     chr2:136114349-136118149 -  2q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CXCR4  -     2q22.1   [Description]    (hg19-Feb_2009)
GoldenPathCXCR4 - 2q22.1 [CytoView hg19]  CXCR4 - 2q22.1 [CytoView hg38]
ImmunoBaseENSG00000121966
Genome Data Viewer NCBICXCR4 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)CXCR4
Gene ExpressionCXCR4 [ NCBI-GEO ]   CXCR4 [ EBI - ARRAY_EXPRESS ]   CXCR4 [ SEEK ]   CXCR4 [ MEM ]
Gene Expression Viewer (FireBrowse)CXCR4 [ Firebrowse - Broad ]
GenevisibleExpression of CXCR4 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
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
PDB (RSDB)2K03    2K04    2K05    2N55    3ODU    3OE0    3OE6    3OE8    3OE9    4RWS   
PDB Europe2K03    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   
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
AlphaFold pdb e-kbP61073   
Human Protein Atlas [tissue]ENSG00000121966-CXCR4 [tissue]
HPRD01217
Protein Interaction databases
DIP (DOE-UCLA)P61073
IntAct (EBI)P61073
BioGRIDCXCR4
STRING (EMBL)CXCR4
ZODIACCXCR4
Ontologies - Pathways
QuickGOP61073
Ontology : AmiGOactivation of MAPK activity  virus receptor activity  response to hypoxia  neuron migration  epithelial cell development  dendritic cell chemotaxis  actin binding  G protein-coupled receptor activity  protein binding  nucleus  cytoplasm  lysosome  lysosome  early endosome  early endosome  late endosome  plasma membrane  plasma membrane  apoptotic process  inflammatory response  immune response  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  axon guidance  brain development  neuron recognition  response to virus  external side of plasma membrane  cell surface  response to activity  coreceptor activity  integral component of membrane  C-C chemokine receptor activity  C-X-C chemokine receptor activity  fusion of virus membrane with host plasma membrane  calcium-mediated signaling  calcium-mediated signaling  C-C chemokine binding  C-C chemokine binding  neurogenesis  telencephalon cell migration  cell junction  regulation of cell adhesion  cell leading edge  cytoplasmic vesicle  ubiquitin protein ligase binding  myosin light chain binding  protein-containing complex  protein-containing complex  positive regulation of vascular wound healing  cellular response to drug  C-X-C motif chemokine 12 receptor activity  CXCL12-activated CXCR4 signaling pathway  CXCL12-activated CXCR4 signaling pathway  regulation of programmed cell death  ubiquitin binding  myelin maintenance  response to morphine  entry into host  endothelial cell differentiation  positive regulation of oligodendrocyte differentiation  regulation of viral process  regulation of chemotaxis  positive regulation of chemotaxis  detection of temperature stimulus involved in sensory perception of pain  detection of mechanical stimulus involved in sensory perception of pain  regulation of calcium ion transport  cardiac muscle contraction  cell chemotaxis  endothelial tube morphogenesis  extracellular exosome  cellular response to cytokine stimulus  positive regulation of cold-induced thermogenesis  positive regulation of dendrite extension  positive regulation of mesenchymal stem cell migration  response to ultrasound  positive regulation of macrophage migration inhibitory factor signaling pathway  
Ontology : EGO-EBIactivation of MAPK activity  virus receptor activity  response to hypoxia  neuron migration  epithelial cell development  dendritic cell chemotaxis  actin binding  G protein-coupled receptor activity  protein binding  nucleus  cytoplasm  lysosome  lysosome  early endosome  early endosome  late endosome  plasma membrane  plasma membrane  apoptotic process  inflammatory response  immune response  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  axon guidance  brain development  neuron recognition  response to virus  external side of plasma membrane  cell surface  response to activity  coreceptor activity  integral component of membrane  C-C chemokine receptor activity  C-X-C chemokine receptor activity  fusion of virus membrane with host plasma membrane  calcium-mediated signaling  calcium-mediated signaling  C-C chemokine binding  C-C chemokine binding  neurogenesis  telencephalon cell migration  cell junction  regulation of cell adhesion  cell leading edge  cytoplasmic vesicle  ubiquitin protein ligase binding  myosin light chain binding  protein-containing complex  protein-containing complex  positive regulation of vascular wound healing  cellular response to drug  C-X-C motif chemokine 12 receptor activity  CXCL12-activated CXCR4 signaling pathway  CXCL12-activated CXCR4 signaling pathway  regulation of programmed cell death  ubiquitin binding  myelin maintenance  response to morphine  entry into host  endothelial cell differentiation  positive regulation of oligodendrocyte differentiation  regulation of viral process  regulation of chemotaxis  positive regulation of chemotaxis  detection of temperature stimulus involved in sensory perception of pain  detection of mechanical stimulus involved in sensory perception of pain  regulation of calcium ion transport  cardiac muscle contraction  cell chemotaxis  endothelial tube morphogenesis  extracellular exosome  cellular response to cytokine stimulus  positive regulation of cold-induced thermogenesis  positive regulation of dendrite extension  positive regulation of mesenchymal stem cell migration  response to ultrasound  positive regulation of macrophage migration inhibitory factor signaling pathway  
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
Homologs : HomoloGeneCXCR4
Homology/Alignments : Family Browser (UCSC)CXCR4
Gene fusions - Rearrangements
Fusion : MitelmanARGLU1/CXCR4 [13q33.3/2q22.1]  
Fusion : MitelmanCXCR4/MAML2 [2q22.1/11q21]  
Fusion : MitelmanMGAT4A/CXCR4 [2q11.2/2q22.1]  
Fusion : QuiverCXCR4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCXCR4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CXCR4
dbVarCXCR4
ClinVarCXCR4
MonarchCXCR4
1000_GenomesCXCR4 
Exome Variant ServerCXCR4
GNOMAD BrowserENSG00000121966
Varsome BrowserCXCR4
ACMGCXCR4 variants
VarityP61073
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]  
Somatic Mutations in Cancer : COSMIC3DCXCR4
Mutations and Diseases : HGMDCXCR4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCXCR4
DgiDB (Drug Gene Interaction Database)CXCR4
DoCM (Curated mutations)CXCR4
CIViC (Clinical Interpretations of Variants in Cancer)CXCR4
Cancer3DCXCR4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162643    193670   
Orphanet10676   
DisGeNETCXCR4
MedgenCXCR4
Genetic Testing Registry CXCR4
NextProtP61073 [Medical]
GENETestsCXCR4
Target ValidationCXCR4
Huge Navigator CXCR4 [HugePedia]
ClinGenCXCR4
Clinical trials, drugs, therapy
MyCancerGenomeCXCR4
Protein Interactions : CTDCXCR4
Pharm GKB GenePA27058
PharosP61073
Clinical trialCXCR4
Miscellaneous
canSAR (ICR)CXCR4
HarmonizomeCXCR4
DataMed IndexCXCR4
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCXCR4
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 15:05:47 CEST 2021

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