CXCR4 Gene (Protein Coding)

C-X-C Motif Chemokine Receptor 4

GC02M136114
GIFtS:
53
This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and my... See more...

Aliases for CXCR4 Gene

Aliases for CXCR4 Gene

  • C-X-C Motif Chemokine Receptor 4 2 3 5
  • LESTR 2 3 4
  • Fusin 2 3 4
  • HM89 2 3 4
  • Leukocyte-Derived Seven Transmembrane Domain Receptor 3 4
  • Lipopolysaccharide-Associated Protein 3 3 4
  • Stromal Cell-Derived Factor 1 Receptor 3 4
  • Chemokine (C-X-C Motif) Receptor 4 2 3
  • C-X-C Chemokine Receptor Type 4 3 4
  • LPS-Associated Protein 3 3 4
  • SDF-1 Receptor 3 4
  • CD184 Antigen 3 4
  • D2S201E 2 3
  • HSY3RR 2 3
  • NPYY3R 2 3
  • CD184 2 3
  • LAP-3 3 4
  • NPY3R 2 3
  • NPYRL 3 4
  • FB22 3 4
  • LCR1 3 4
  • NPYR 2 3
  • Seven-Transmembrane-Segment Receptor, Spleen 3
  • Chemokine (C-X-C Motif), Receptor 4 (Fusin) 2
  • Seven Transmembrane Helix Receptor 3
  • Neuropeptide Y Receptor Y3 3
  • Neuropeptide Y3 Receptor 3
  • CXC-R4 4
  • CXCR-4 4
  • WHIMS 3
  • CXCR4 5
  • LAP3 3
  • WHIM 3

External Ids for CXCR4 Gene

Previous GeneCards Identifiers for CXCR4 Gene

  • GC02M134526
  • GC02M135169
  • GC02M136894
  • GC02M137082
  • GC02M136705
  • GC02M136588
  • GC02M128864
  • GC02M136871

Summaries for CXCR4 Gene

Entrez Gene Summary for CXCR4 Gene

  • This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

CIViC Summary for CXCR4 Gene

GeneCards Summary for CXCR4 Gene

CXCR4 (C-X-C Motif Chemokine Receptor 4) is a Protein Coding gene. Diseases associated with CXCR4 include Whim Syndrome and Macroglobulinemia. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and ubiquitin protein ligase binding. An important paralog of this gene is CXCR2.

UniProtKB/Swiss-Prot Summary for CXCR4 Gene

  • Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10452968, PubMed:28978524, PubMed:18799424, PubMed:24912431). Involved in the AKT signaling cascade (PubMed:24912431). Plays a role in regulation of cell migration, e.g. during wound healing (PubMed:28978524). Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels (PubMed:20228059). Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival (By similarity).
  • (Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) for human immunodeficiency virus-1/HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus (PubMed:8849450, PubMed:8929542, PubMed:9427609, PubMed:10074122, PubMed:10756055).

Tocris Summary for CXCR4 Gene

  • Chemokine receptors are 7-transmembrane G protein-coupled receptors that are activated by the binding of one or more chemokines. Chemokines are a family of chemoattractant molecules with more than 50 having been identified to date. They are categorized according to the number and spacing of conserved cysteines into four main groups: CXC, CC, CX3C and C.

Gene Wiki entry for CXCR4 Gene

Additional gene information for CXCR4 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CXCR4 Gene

Genomics for CXCR4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CXCR4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J136113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.1 1099 6.3 BCL11A NR2C1 POLR2A ZEB1 CTCF ZIC2 SIN3A ZNF341 EBF1 ZNF843 CXCR4 HSALNG0019093 KY994059 lnc-UBXN4-12 UBXN4 MCM6 LOC112268426 DARS1
GH02J136211 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 29.5 -96.3 -96331 5.9 CEBPA CEBPB MAX EP300 EBF1 RAD21 CTBP1 RARA SMARCA5 SMC3 LOC107985947 lnc-CXCR4-5 lnc-UBXN4-13 CXCR4 MCM6 DARS1-AS1 UBXN4 THSD7B
GH02J136225 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 24.1 -107.9 -107946 1.4 TRIM22 SMC3 SMARCA5 MAX BHLHE40 POLR2A IKZF1 BMI1 NR2F1 BACH1 CXCR4 UBXN4 ENSG00000279024 RF00994-519 lnc-UBXN4-13 LOC107985947 THSD7B
GH02J135874 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 14 +242.4 242448 3 TBP SP1 MNT SMAD5 IRF2 HES1 MBD2 ZNF217 POLR2A ZEB1 MCM6 CXCR4 DARS1 UBXN4 piR-34822-184 LCT
GH02J136326 Enhancer 1.1 FANTOM5 ENCODE 26.6 -209.5 -209485 1.8 SP1 BCL11A ZNF217 ELF1 ZIC2 CUX1 TRIM22 IRF4 EBF1 CTBP1 HSALNG0019105 CXCR4 UBBP1 THSD7B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CXCR4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CXCR4

Top Transcription factor binding sites by QIAGEN in the CXCR4 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

Genomic Locations for CXCR4 Gene

Latest Assembly
chr2:136,114,349-136,118,149
(GRCh38/hg38)
Size:
3,801 bases
Orientation:
Minus strand

Previous Assembly
chr2:136,871,919-136,875,719
(GRCh37/hg19 by Entrez Gene)
Size:
3,801 bases
Orientation:
Minus strand

chr2:136,871,919-136,875,735
(GRCh37/hg19 by Ensembl)
Size:
3,817 bases
Orientation:
Minus strand

Genomic View for CXCR4 Gene

Genes around CXCR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CXCR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CXCR4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CXCR4 Gene

Proteins for CXCR4 Gene

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  • Protein details for CXCR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61073-CXCR4_HUMAN
    Recommended name:
    C-X-C chemokine receptor type 4
    Protein Accession:
    P61073
    Secondary Accessions:
    • B2R5N0
    • O60835
    • P30991
    • P56438
    • Q53S69
    • Q9BXA0
    • Q9UKN2

    Protein attributes for CXCR4 Gene

    Size:
    352 amino acids
    Molecular mass:
    39746 Da
    Quaternary structure:
    • Monomer. Can form homodimers (PubMed:20929726). Interacts with CD164 (PubMed:17077324). Interacts with ARRB2; the interaction is dependent on the C-terminal phosphorylation of CXCR4 and allows activation of MAPK1 and MAPK3. Interacts with ARRC; the interaction is dependent on the C-terminal phosphorylation of CXCR4 and modulates calcium mobilization (PubMed:20048153). Interacts with RNF113A; the interaction, enhanced by CXCL12, promotes CXCR4 ubiquitination and subsequent degradation (PubMed:28978524). Interacts (via the cytoplasmic C-terminal) with ITCH (via the WW domains I and II); the interaction, enhanced by CXCL12, promotes CXCR4 ubiquitination and leads to its degradation. Interacts with extracellular ubiquitin. Interacts with DBN1; this interaction is enhanced by antigenic stimulation. Following LPS binding, may form a complex with GDF5, HSP90AA1 and HSPA8.
    • (Microbial infection) Interacts with HIV-1 surface protein gp120 and Tat.
    • (Microbial infection) Interacts with HHV-8 protein ORF K4 (PubMed:25612609).
    • (Microbial infection) May interact with human cytomegalovirus/HHV-5 protein UL78.
    • (Microbial infection) Interacts with Staphylococcus aureus protein SSL10.
    SequenceCaution:
    • Sequence=CAA12166.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
    Miscellaneous:
    • Plerixafor (AMD3100), an antagonist of CXCR4 activity, blocks HIV-1 entry, interaction with CXCL12 and subsequent CXCR4 signaling.

    Three dimensional structures from OCA and Proteopedia for CXCR4 Gene

    Alternative splice isoforms for CXCR4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CXCR4 Gene

Protein Expression for CXCR4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CXCR4 Gene

  • Phosphorylated on agonist stimulation. Rapidly phosphorylated on serine and threonine residues in the C-terminal. Phosphorylation at Ser-324 and Ser-325 leads to recruitment of ITCH, ubiquitination and protein degradation.
  • Ubiquitinated after ligand binding, leading to its degradation (PubMed:28978524). Ubiquitinated by ITCH at the cell membrane on agonist stimulation. The ubiquitin-dependent mechanism, endosomal sorting complex required for transport (ESCRT), then targets CXCR4 for lysosomal degradation. This process is dependent also on prior Ser-/Thr-phosphorylation in the C-terminal of CXCR4. Also binding of ARRB1 to STAM negatively regulates CXCR4 sorting to lysosomes though modulating ubiquitination of SFR5S.
  • Sulfation on Tyr-21 is required for efficient binding of CXCL12/SDF-1alpha and promotes its dimerization. Tyr-7 and Tyr-12 are sulfated in a sequential manner after Tyr-21 is almost fully sulfated, with the binding affinity for CXCL12/SDF-1alpha increasing with the number of sulfotyrosines present. Sulfotyrosines Tyr-7 and Tyr-12 occupy clefts on opposing CXCL12 subunits, thus bridging the CXCL12 dimer interface and promoting CXCL12 dimerization.
  • O- and N-glycosylated. Asn-11 is the principal site of N-glycosylation. There appears to be very little or no glycosylation on Asn-176. N-glycosylation masks coreceptor function in both X4 and R5 laboratory-adapted and primary HIV-1 strains through inhibiting interaction with their Env glycoproteins. The O-glycosylation chondroitin sulfate attachment does not affect interaction with CXCL12/SDF-1alpha nor its coreceptor activity.
  • Glycosylation at Asn11, Ser18, and Asn176
  • Ubiquitination at Lys310, Lys327, and Lys331
  • Modification sites at PhosphoSitePlus

Other Protein References for CXCR4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CXCR4

No data available for DME Specific Peptides for CXCR4 Gene

Domains & Families for CXCR4 Gene

Gene Families for CXCR4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for CXCR4 Gene

InterPro:
Blocks:
  • Chemokine receptor signature
  • LCR1 orphan receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for CXCR4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51543, highly similar to C-X-C chemokine receptor type 4 (B4DKQ9_HUMAN)
  • Stromal cell-derived factor 1 receptor (CXCR4_HUMAN)
  • Chemokine receptor 4 (Q5MIL4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61073

UniProtKB/Swiss-Prot:

CXCR4_HUMAN :
  • The amino-terminus is critical for ligand binding. Residues in all four extracellular regions contribute to HIV-1 coreceptor activity.
  • Belongs to the G-protein coupled receptor 1 family.
Domain:
  • The amino-terminus is critical for ligand binding. Residues in all four extracellular regions contribute to HIV-1 coreceptor activity.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with CXCR4: view

Function for CXCR4 Gene

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  2. CRISPR products for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for CXCR4 Gene

UniProtKB/Swiss-Prot Function:
Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10452968, PubMed:28978524, PubMed:18799424, PubMed:24912431). Involved in the AKT signaling cascade (PubMed:24912431). Plays a role in regulation of cell migration, e.g. during wound healing (PubMed:28978524). Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels (PubMed:20228059). Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) for human immunodeficiency virus-1/HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus (PubMed:8849450, PubMed:8929542, PubMed:9427609, PubMed:10074122, PubMed:10756055).
UniProtKB/Swiss-Prot Induction:
(Microbial infection) May be down-regulated by Human cytomegalovirus/HHV-5.
UniProtKB/Swiss-Prot Induction:
(Microbial infection) May be down-regulated by HIV-1 tat.
GENATLAS Biochemistry:
fusin,chemokine (CXC) motif,receptor 4,preferentially expressed on the more immature CD34+ hematopoietic stem cells,G protein coupled receptor superfamily,required for entry of T cell line-tropic strains HIV-1 into CD4 cells,bovine locus coeruleus homolog

Phenotypes From GWAS Catalog for CXCR4 Gene

Gene Ontology (GO) - Molecular Function for CXCR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0003779 actin binding IDA 12421915
GO:0004930 G protein-coupled receptor activity TAS 8276799
GO:0004950 chemokine receptor activity IEA --
GO:0005515 protein binding IPI 10644702
genes like me logo Genes that share ontologies with CXCR4: view
genes like me logo Genes that share phenotypes with CXCR4: view

Human Phenotype Ontology for CXCR4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CXCR4 Gene

MGI Knock Outs for CXCR4:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CXCR4

Clone products for research

  • Addgene plasmids for CXCR4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CXCR4 Gene

Localization for CXCR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CXCR4 Gene

Cell membrane. Multi-pass membrane protein. Cell junction. Early endosome. Late endosome. Lysosome. Note=In unstimulated cells, diffuse pattern on plasma membrane. On agonist stimulation, colocalizes with ITCH at the plasma membrane where it becomes ubiquitinated. In the presence of antigen, distributes to the immunological synapse forming at the T-cell-APC contact area, where it localizes at the peripheral and distal supramolecular activation cluster (SMAC).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CXCR4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
lysosome 5
nucleus 4
cytoskeleton 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CXCR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS 10415069
GO:0005764 colocalizes_with lysosome IEA,IDA 24790097
GO:0005768 endosome IEA --
GO:0005769 colocalizes_with early endosome IEA,IDA 24790097
genes like me logo Genes that share ontologies with CXCR4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CXCR4 Gene

Pathways & Interactions for CXCR4 Gene

genes like me logo Genes that share pathways with CXCR4: view

Pathways by source for CXCR4 Gene

2 Sino Biological pathways for CXCR4 Gene
3 GeneGo (Thomson Reuters) pathways for CXCR4 Gene
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
15 Qiagen pathways for CXCR4 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways Triggered By HIV1
  • Chemokine Signaling
  • CXCR4 Pathway
3 Cell Signaling Technology pathways for CXCR4 Gene

SIGNOR curated interactions for CXCR4 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CXCR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS 10570282
GO:0001666 response to hypoxia IEP 15174142
GO:0001764 neuron migration IEA --
GO:0002064 epithelial cell development IEA --
GO:0002407 dendritic cell chemotaxis TAS 16621978
genes like me logo Genes that share ontologies with CXCR4: view

Drugs & Compounds for CXCR4 Gene

Products:

  1. Drug products for research

(110) Drugs for CXCR4 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Plerixafor Approved Pharma Agonist, Partial agonist, Antagonist, Target 0
Heparin Approved, Investigational Pharma 1141
Framycetin Approved Pharma Target, antagonist 0
Ibalizumab Approved, Investigational Pharma Target, antagonist 9
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2478

(49) Additional Compounds for CXCR4 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SDF-1α
Agonist, Full agonist
vMIP-II
Antagonist
ATI 2341
1337878-62-2
VUF 11222
1414376-84-3

(5) Tocris Compounds for CXCR4 Gene

Compound Action Cas Number
ATI 2341 CXCR4 allosteric agonist 1337878-62-2
SB 225002 Potent and selective CXCR2 antagonist 182498-32-4
SB 265610 Potent CXCR2 antagonist 211096-49-0
VUF 11207 fumarate Potent ACKR3 (CXCR7) agonist
VUF 11222 High affinity non-peptide CXCR3 agonist 1414376-84-3

(13) ApexBio Compounds for CXCR4 Gene

Compound Action Cas Number
AMD 3465 CXCR4 antagonist,potent and selective 185991-24-6
AMD 3465 hexahydrobromide 185991-07-5
AMD-070 CXCR4 antagonist,potent and selective 558447-26-0
AMD-070 hydrochloride CXCR4 antagonist,potent and selective 880549-30-4
CTCE 9908 1030384-98-5
FC 131 606968-52-9
IT1t dihydrochloride CXCR4 antagonist, potent 1092776-63-0
Plerixafor (AMD3100) CXCR4 chemokine receptor antagonist 110078-46-1
Plerixafor 8HCl (AMD3100 8HCl) CXCR4 antagonist 155148-31-5
SRT3109 1204707-71-0
TC 14012 368874-34-4
UNBS 5162 A pan-antagonist of CXCL chemokines 956590-23-1
WZ811 Competitive CXR4 antagonist,highly potent 55778-02-4
genes like me logo Genes that share compounds with CXCR4: view

Transcripts for CXCR4 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CXCR4 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CXCR4

Clone products for research

  • Addgene plasmids for CXCR4

Alternative Splicing Database (ASD) splice patterns (SP) for CXCR4 Gene

No ASD Table

Relevant External Links for CXCR4 Gene

GeneLoc Exon Structure for
CXCR4

Expression for CXCR4 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CXCR4 Gene

mRNA expression in normal human tissues for CXCR4 Gene
mRNA expression by BioGPS for CXCR4 GenemRNA expression by GTEx for CXCR4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CXCR4 Gene

This gene is overexpressed in Whole Blood (x25.3) and Spleen (x5.1).

Protein differential expression in normal tissues from HIPED for CXCR4 Gene

This gene is overexpressed in CD8 Tcells (22.0), Platelet (19.1), Tlymphocyte (8.6), Peripheral blood mononuclear cells (8.3), and Blymphocyte (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CXCR4 Gene



Protein tissue co-expression partners for CXCR4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CXCR4

SOURCE GeneReport for Unigene cluster for CXCR4 Gene:

Hs.593413

mRNA Expression by UniProt/SwissProt for CXCR4 Gene:

P61073-CXCR4_HUMAN
Tissue specificity: Expressed in numerous tissues, such as peripheral blood leukocytes, spleen, thymus, spinal cord, heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, cerebellum, cerebral cortex and medulla (in microglia as well as in astrocytes), brain microvascular, coronary artery and umbilical cord endothelial cells. Isoform 1 is predominant in all tissues tested.

Evidence on tissue expression from TISSUES for CXCR4 Gene

  • Blood(4.8)
  • Nervous system(4.8)
  • Spleen(4.7)
  • Intestine(4.7)
  • Adrenal gland(4.6)
  • Lung(4.6)
  • Bone marrow(4.1)
  • Lymph node(3.9)
  • Heart(3.2)
  • Liver(3.2)
  • Muscle(3)
  • Kidney(2.9)
  • Stomach(2.9)
  • Skin(2.7)
  • Gall bladder(2.5)
  • Bone(2.5)
  • Thyroid gland(2.5)
  • Pancreas(2.5)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CXCR4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • lymphatic
  • reproductive
  • respiratory
Regions:
Head and neck:
  • larynx
  • neck
  • pharynx
Thorax:
  • lung
  • trachea
Pelvis:
  • ovary
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • foot
  • lower limb
  • toe
General:
  • blood
  • bone marrow
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CXCR4: view

Orthologs for CXCR4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CXCR4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CXCR4 30 31
  • 99.81 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CXCR4 30 31
  • 91.27 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CXCR4 30 31
  • 90.28 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cxcr4 30 17 31
  • 86.89 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cxcr4 30
  • 85.59 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CXCR4 31
  • 81 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CXCR4 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CXCR4 30 31
  • 74.03 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CXCR4 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cxcr4 30
  • 71.67 (n)
Str.266 30
African clawed frog
(Xenopus laevis)
 Amphibia cxcr4-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii cxcr4a 30 31
  • 66.67 (n)
 OneToMany
cxcr4b 31
  • 62 (a)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11892 30
Species where no ortholog for CXCR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CXCR4 Gene

ENSEMBL:
Gene Tree for CXCR4 (if available)
TreeFam:
Gene Tree for CXCR4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CXCR4: view image

Paralogs for CXCR4 Gene

Paralogs for CXCR4 Gene

(46) SIMAP similar genes for CXCR4 Gene using alignment to 2 proteins:

  • CXCR4_HUMAN
  • Q5MIL4_HUMAN
genes like me logo Genes that share paralogs with CXCR4: view

Variants for CXCR4 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CXCR4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
835055 Uncertain Significance: Warts, hypogammaglobulinemia, infections, and myelokathexis 136,114,970(-) CAG/C
NM_003467.3(CXCR4):c.954_955CT[1] (p.Ser319fs) 		FRAMESHIFT
855157 Uncertain Significance: Warts, hypogammaglobulinemia, infections, and myelokathexis 136,115,000(-) T/C
NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu) 		MISSENSE
855700 Uncertain Significance: Warts, hypogammaglobulinemia, infections, and myelokathexis 136,114,906(-) G/T
NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr) 		MISSENSE
863531 Uncertain Significance: Warts, hypogammaglobulinemia, infections, and myelokathexis 136,115,795(-) AG/A
NM_003467.3(CXCR4):c.132del (p.Tyr45fs) 		FRAMESHIFT
941105 Uncertain Significance: Warts, hypogammaglobulinemia, infections, and myelokathexis 136,115,909(-) A/G
NM_003467.3(CXCR4):c.19T>C (p.Tyr7His) 		MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CXCR4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CXCR4 Gene

Variant ID Type Subtype PubMed ID
nsv523997 CNV gain 19592680

Variation tolerance for CXCR4 Gene

Residual Variation Intolerance Score: 36.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CXCR4 Gene

Human Gene Mutation Database (HGMD)
CXCR4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CXCR4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CXCR4 Gene

Disorders for CXCR4 Gene

MalaCards: The human disease database

(77) MalaCards diseases for CXCR4 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
whim syndrome
  • whims
macroglobulinemia
  • primary macroglobulinemia
intraocular lymphoma
  • primary intraocular lymphoma
aids dementia complex
  • adc
human immunodeficiency virus infectious disease
  • hiv infections
- elite association - COSMIC cancer census association via MalaCards
Search CXCR4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXCR4_HUMAN
  • WHIM syndrome (WHIMS) [MIM:193670]: Immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. {ECO:0000269 PubMed:12692554, ECO:0000269 PubMed:15536153}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=CXCR4 mutations play a role in the pathogenesis of Waldenstroem macroglobulinemia (WM) and influence disease presentation and outcome, as well as response to therapy. WM is a B-cell lymphoma characterized by accumulation of malignant lymphoplasmacytic cells in the bone marrow, lymph nodes and spleen, and hypersecretion of monoclonal immunoglobulin M (IgM). Excess IgM production results in serum hyperviscosity, tissue infiltration, and autoimmune-related pathology. {ECO:0000269 PubMed:24366360, ECO:0000269 PubMed:24553177}.

Additional Disease Information for CXCR4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CXCR4: view

No data available for Genatlas for CXCR4 Gene

Publications for CXCR4 Gene

  1. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. (PMID: 12692554) Hernandez PA … Diaz GA (Nature genetics 2003) 3 4 23 74
  2. Genomic organization and promoter characterization of human CXCR4 gene. (PMID: 9599023) Caruz A … Arenzana-Seisdedos F (FEBS letters 1998) 2 3 4 23
  3. Site-specific phosphorylation of CXCR4 is dynamically regulated by multiple kinases and results in differential modulation of CXCR4 signaling. (PMID: 20048153) Busillo JM … Benovic JL (The Journal of biological chemistry 2010) 3 4 23
  4. Do human polyoma viruses and human immunodeficiency virus share common co-receptors? (PMID: 19950235) Borissov K … Argirova R (Journal of medical virology 2010) 3 23 41
  5. Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. (PMID: 20421499) Levy D … Aviv A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 23 41

ExternalLinks

View latest publications for CXCR4 gene in Mastermind

Products for CXCR4 Gene

  • Addgene plasmids for CXCR4

Sources for CXCR4 Gene