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CXCR4 Gene

protein-coding   GIFtS: 74

GC02M136588
chemokine (C-X-C motif) receptor 4
(Previous names: chemokine (C-X-C motif), receptor 4 (fusin) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CD184 1, 2
CXC-R4 3
CXCR-4 3
D2S201E 1, 2, 5
FB22 2, 3
Fusin 3
HM89 1, 2, 3
HSY3RR 1, 2
LAP3 2
LCR1 2, 3
LESTR 1, 2, 3
NPY3R 1, 2, 5
NPYR 1, 2
NPYRL 2, 3
NPYY3R 1, 2
WHIM 2, 5
fusin 1, 2
Descriptions
C-X-C chemokine receptor type 4 2
CD184 antigen 2, 3
Leukocyte-derived seven transmembrane domain receptor 3
SDF-1 receptor 3
Stromal cell-derived factor 1 receptor 2, 3
chemokine (C-X-C motif) receptor 4 2
chemokine (C-X-C motif), receptor 4 (fusin) 1
leukocyte-derived seven-transmembrane-domain receptor 2
lipopolysaccharide-associated protein 3 2
neuropeptide Y receptor Y3 2
seven transmembrane helix receptor 2
seven-transmembrane-segment receptor, spleen 2
External Ids
HGNC: 25611
Entrez Gene: 78522
UniProtKB: P610733
Ensembl: ENSG000001219667
Search outside databases for aliases for CXCR4 gene

Previous GC identifers: GC02M134526 GC02M135169 GC02M136894 GC02M137082 GC02M136705

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CXCR4:
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]

UniProtKB/Swiss-Prot: CXCR4_HUMAN, P61073
Function: Receptor for the C-X-C chemokine CXCL12/SDF-1. Transduces a signal by increasing the
intracellular calcium ions level. Involved in haematopoiesis and in cardiac ventricular septum
formation. Plays also an essential role in vascularization of the gastrointestinal tract, probably
by regulating vascular branching and/or remodeling processes in endothelial cells. Could be
involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival. Acts as
a coreceptor (CD4 being the primary receptor) for HIV-1 X4 isolates and as a primary receptor for
some HIV-2 isolates. Promotes Env-mediated fusion of the virus

Gene Wiki entry for CXCR4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CXCR4 gene  

Entrez Gene cytogenetic band: 2q21   Ensembl cytogenetic band:  2q21.3   HGNC cytogenetic band: 2q21

CXCR4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M136588:     (about GC identifiers)

Start:
136,588,389 bp from pter
End:
136,592,205 bp from pter
Size:
3,817 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_022135.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CXCR4_HUMAN, P61073 (See protein sequence)
Recommended Name: C-X-C chemokine receptor type 4  
Size: 352 amino acids; 39746 Da
Subunit: Monomer. Can form dimers. Interacts with HIV-1 surface protein gp120 and Tat
Subcellular location: Cell membrane; Multi-pass membrane protein
Caution: Was originally (PubMed:8329116 and PubMed:8234909) thought to be a receptor for
neuropeptide Y type 3 (NPY3R) (NPY3-R)
PDB structures from and Proteopedia :
2K03 (3D)    2K04 (3D)    2K05 (3D)    
Secondary accessions: O60835 P30991 P56438 Q9UKN2
Alternative splicing: 2 isoforms:  P61073-1, P30991-1   P61073-2, P30991-2   (Additional isoforms seem to exist)

Post-translational modifications:

  • Sulfation on Tyr-21 is required for efficient binding of CXCL12/SDF-1alpha and promotes its
    dimerization1
  • 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 activity1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001008540.1  NP_003458.1  


    ENSEMBL proteins: 
    ENSP00000241393 ENSP00000386884 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant CXCR4 Protein
    Sigma-Aldrich CompoZr ZFN for CXCR4  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (CXCR4)
    Human Recombinant Proteins from Abnova (CXCR4)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm TAS10415069
    GO:0005886 plasma membrane TAS10393923 10644702
    GO:0005887 integral to plasma membrane TAS10644702
    GO:0031252 cell leading edge IDA12421915
    About this table

    Antibodies for CXCR4: 
    Invitrogen Antibodies for CXCR4
    Millipore Mono- and Polyclonal Antibodies for the study of CXCR4
    Sigma-Aldrich Antibodies for CXCR4
    R&D Systems Antibodies for CXCR4
    Antibodies from Abcam (CXCR4), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CXCR4)
    Novus Biologicals Antibodies for CXCR4

    Assays for CXCR4: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    4 InterPro domains/families:
     IPR017452 GPCR_Rhodpsn_supfam
     IPR001277 CXC_4_rcpt
     IPR000276 7TM_GPCR_Rhodpsn
     IPR000355 Chmkine_rcpt


       GeneDecks  CXCR4 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P61073

    ProtoNet protein and cluster: P61073

    2 Blocks protein families:
    IPB000355 Chemokine receptor signature
    IPB001277 LCR1 orphan receptor signature


    UniProtKB/Swiss-Prot: CXCR4_HUMAN, P61073
    Domain: The amino-terminus is critical for ligand binding. Residues in all four extracellular
    regions contribute to HIV-1 coreceptor activity
    Similarity: Belongs to the G-protein coupled receptor 1 family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CXCR4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CXCR4)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003467

                  Applied Biosystems Silencer® siRNAs for CXCR4

                  Sigma-Aldrich siRNA and siRNA Panels for CXCR4  
                         Sigma-Aldrich shRNA Panels and shRNA for CXCR4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for CXCR4
    Millipore Clones for the Expression of CXCR4
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001008540
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001008540
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001008540 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001008540

    UniProtKB/Swiss-Prot: CXCR4_HUMAN, P61073
    Function: Receptor for the C-X-C chemokine CXCL12/SDF-1. Transduces a signal by increasing the
    intracellular calcium ions level. Involved in haematopoiesis and in cardiac ventricular septum
    formation. Plays also an essential role in vascularization of the gastrointestinal tract, probably
    by regulating vascular branching and/or remodeling processes in endothelial cells. Could be
    involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival. Acts as
    a coreceptor (CD4 being the primary receptor) for HIV-1 X4 isolates and as a primary receptor for
    some HIV-2 isolates. Promotes Env-mediated fusion of the virus

    Genatlas biochemistry entry for CXCR4:
    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

    13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cxcr4):

    digestive/alimentaryembryogenesisgrowth/sizehematopoietic system
    homeostasis/metabolismimmune systemlethality-prenatal/perinatalmusclenervous system
    renal/urinary systemreproductive systemrespiratory system

    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779 actin binding IDA12421915
    GO:0004930 G-protein coupled receptor activity TAS8276799
    GO:0005515 protein binding IPI12421915
    GO:0015026 coreceptor activity TAS10754293
    GO:0016493 C-C chemokine receptor activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    4 Invitrogen iPath™ Online BioAtlas - Pathways for CXCR4 (Maps provided by GeneGo):
     Gqa specific GPCRs (in brain)
     Gi-a specific GPCRs (in brain)
     Chemokine signaling
     CXCR4 signaling pathway

       GeneDecks  CXCR4 for the pathways selected above  
    About GeneDecksing

    4 Millipore Pathways for CXCR4
     Chemotaxis CXCR4 signaling pathway
     Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
     Cell adhesion Integrin inside-out signaling
     Cytoskeleton remodeling Reverse signaling by ephrin B

       GeneDecks  CXCR4 for the pathways selected above  
    About GeneDecksing

    5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for  CXCR4  (Your Favorite Gene powered by Ingenuity) (see all 6
     Ephrin Receptor Signaling
     Chemokine Signaling
     Leukocyte Extravasation Signaling
     Axonal Guidance Signaling
     Induction of Apoptosis by HIV1

       GeneDecks  CXCR4 for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for CXCR4):
     hsa04060 Cytokine-cytokine receptor interaction
     hsa04360 Axon guidance
     hsa04670 Leukocyte transendothelial migration

       GeneDecks  CXCR4 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CXCR4 


    5/154 Interacting proteins for CXCR4 (ENSP000002413933 P610731) via UniProtKB, MINT, and/or STRING (see all 154 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYH9P355791EBI-489411, EBI-350338
    CD4ENSP000000116533STRING (score=.999)
    CXCL12ENSP000003635483STRING (score=.999)
    CCL5ENSP000002932723STRING (score=.993)
    SDC4ENSP000003618183STRING (score=.983)
    About this table

    5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187 activation of MAPK activity TAS10570282
    GO:0001666 response to hypoxia IEP15174142
    GO:0006915 apoptosis TAS10942389
    GO:0006935 chemotaxis TAS10802710
    GO:0006954 inflammatory response TAS8276799
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Compounds for CXCR4 available from Tocris Bioscience
    CompoundAction CAS number
    AMD 3100 octahydrochlorideHighly selective CXCR4 antagonist[155148-31-5]
    About this table


    10/35 Novoseek chemical compound relationships for CXCR4 gene (see all 35 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    rantes 83.60 66 14717979 (2), 19127964 (2), 11064099 (2), 10679062 (2) (see all 52)
    sdf 1 81.99 69 18698020 (8), 10656438 (6), 17108064 (6), 15781337 (3) (see all 21)
    c-d4i 69.23 1 12208966 (1)
    cgp64222 63.76 1 10617686 (1)
    jm2763 62.28 1 10400726 (1)
    mdms 56.39 5 11049991 (2), 15804293 (2), 12699419 (1)
    ccl3 54.12 8 15818740 (1), 19001077 (1), 15542651 (1), 11145678 (1) (see all 7)
    cyclam 52.81 2 18671217 (1), 9882699 (1)
    matrigel 50.61 10 17521613 (2), 12791666 (1), 15059909 (1), 15705897 (1) (see all 8)
    tyrosine sulfate 49.83 2 12034737 (1), 18799424 (1)
    About this table

    1 PharmGKB drug compound relationship for CXCR4 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    IL-2PD  10203379
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CXCR4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CXCR4)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003467

                  Sigma-Aldrich siRNA and siRNA Panels for CXCR4  
                         Sigma-Aldrich shRNA Panels and shRNA for CXCR4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001008540  NM_003467  

    REFSEQ mRNAs for CXCR4 gene (2 alternative transcripts): 

    NM_001008540.1   NM_003467.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001008540  NM_003467  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001008540
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001008540
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001008540 

    Additional cDNA sequence: 

    AF025375.1 AF147204.1 AF348491.1 AK129916.1 AK296674.1 AK309641.1 AK309885.1 AK312244.1 
    AY242129.1 AY826773.1 BC020968.2 BT006660.1 CR594428.1 CR594588.1 CR596547.1 CR598681.1 
    CR598713.1 CR601301.1 CR604071.1 CR605131.1 CR610268.1 CR614199.1 CR614594.1 CR614663.1 
    CR619476.1 CR623838.1 D10924.1 L01639.1 L06797.1 M99293.1 X71635.1 

    10 DOTS entries:

    DT.99966073  DT.317915  DT.100879775  DT.95300550  DT.100758882  DT.121009420  DT.91841237  DT.92435681 
    DT.100804810  DT.86667426 

    24/263 AceView cDNA sequences (see all 263 ):

    CR596547 BQ718617 CR614663 CR614594 CR598681 BI754094 BI916212 CD251331 
    BX439223 BP366593 BP338386 BM920800 AA426566 AA386000 BP367699 CR623838 
    CR594588 BX397685 CR614199 AA299445 AF025375 BX089192 X71635 AY242129 

    highest scoring ESTs for CXCR4:

    L06797 AA091989 AA148292 AA225739 AA248174 AA299445 AA339027 AA353051 AA353948 AA354040 

    Unigene Cluster for CXCR4:

    Chemokine (C-X-C motif) receptor 4
    Hs.593413  [show with all ESTs]
    Unigene Representative Sequence: AF147204


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000241393  ENST00000409817  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CXCR4 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CXCR4

    1 / 2 / 3

    7 probe-sets matching CXCR4 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    649_s_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 L06797 1.00 1.00 1.00 1

    211919_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF348491 0.80 1.00 0.91 1

    217028_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    209201_x_at2, 3 U133-A 1 1.00 1.00 -- -- L01639 0.80 1.00 0.91 1

    211919_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    217028_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    209201_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  CXCR4 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTAAACTTAA

    SOURCE GeneReport for Unigene cluster: Hs.593413

    Expression variation in blood from EXPOLDB for CXCR4

    UniProtKB/Swiss-Prot: CXCR4_HUMAN, P61073
    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for CXCR4 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CXCR41   -- chemokine (C-X-C motif) receptor 4 91.31(n)
    95.99(a)
    483900  XM_541020.2  XP_541020.2 
    chimpanzee
    (Pan troglodytes)
    CXCR41   -- chemokine (C-X-C motif) receptor 4 99.81(n)
    100(a)
    450130  NM_001009047.1  NP_001009047.1 
    cow
    (Bos taurus)
    CXCR41   -- chemokine (C-X-C motif) receptor 4 90.25(n)
    92.61(a)
    281736  NM_174301.3  NP_776726.1 
    rat
    (Rattus norvegicus)
    Cxcr41   -- chemokine (C-X-C motif) receptor 4 85.48(n)
    91.4(a)
    60628  NM_022205.3  NP_071541.2 
    mouse
    (Mus musculus)
    Cxcr41, 5 1 (67.40 cM)5
    chemokine (C-X-C motif) receptor 41, 5 86.63(n)1
    91.12(a)1
    127671  NM_009911.31  NP_034041.21 
     AB0008035  AK0886635  (see all 17)
    About this table        Species with no ortholog for CXCR4

    ENSEMBL Gene Tree for CXCR4
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CXCR4 gene
    CXCR52  IL8RA2  IL8RB2  CXCR32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/40 NCBI SNPs in CXCR4 are shown (see all 40 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 38)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs38065011,2
    C,F,H136593539(-) GCAGTC/ATGGGC 1 -- ng315Minor allele frequency- A:0.03EA EU WA 1916
    --
    rs178480471,2
    C,F136593642(-) TGCTCT/CGTAGA 1 -- ng318Minor allele frequency- C:0.03NS 758
    rs116829281,2
    C,F136591376(+) GAGGCG/ACGCTT 2 -- ng31 int12Minor allele frequency- A:0.12NS 92
    --
    rs178480561,2
    C,F136590588(-) ATACCC/TCAAGC 2 -- ng31 int18Minor allele frequency- T:0.07NS 722
    rs24718591,2
    C,F136590474(-) TGCGCT/CTTAGG 2 -- ng31 int18Minor allele frequency- C:0.32NS 744
    rs26808801,2
    C,F136590019(+) AAAAAA/TTTTTT 2 -- ut51 int18Minor allele frequency- T:0.17NS 744
    --
    rs178480591,2
    F136588880(-) TATACG/AATAAA 2 -- ut312Minor allele frequency- A:0.02NS 90
    --
    rs178480521,2
    F136592268(-) CGCCTT/CCTCCC 2 -- ng31 trp32Minor allele frequency- C:0.02NS 92
    --
    rs178483851,2
    F136591162(-) GGTGCA/CAGTGG 2 -- int1 ng312Minor allele frequency- C:0.05NS 90
    rs11121561,2
    C136593184(-) GGGGAC/ACGAAG 1 -- ng313Minor allele frequency- A:0.00MN NS 276
    About this table

    HapMap Linkage Disequilibrium images for CXCR4 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 162643

    UniProtKB/Swiss-Prot: CXCR4_HUMAN, P61073

  • Defects in CXCR4 are a cause of WHIM syndrome [MIM:193670]; also called warts,
    hypogammaglobulinemia, infections, and myelokathexis. WHIM syndrome is an 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
  • 10/93 Novoseek disease relationships for CXCR4 gene (see all 93 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    whim syndrome 88.04 26 15026312 (2), 15781337 (2), 16154852 (2), 16899028 (2) (see all 15)
    immunodeficiency 84.61 347 9343175 (3), 10074102 (3), 9108384 (2), 9160656 (2) (see all 99)
    hiv infections 69.89 74 9108384 (2), 14741421 (2), 10779364 (2), 10823791 (2) (see all 57)
    metastasis 67.61 419 16230077 (6), 12499276 (6), 15240098 (6), 17355795 (6) (see all 99)
    aids dementia complex 57.32 3 11115360 (1), 9327737 (1), 11218674 (1)
    hypogammaglobulinemia 57.01 5 15026312 (1), 18436740 (1), 15604887 (1)
    aids 56.57 68 16138573 (5), 10499817 (2), 11305873 (2), 17199940 (2) (see all 48)
    tumors 50.06 439 16269611 (6), 18593989 (6), 18701133 (5), 15472715 (5) (see all 99)
    virus infection 48.62 39 8709256 (1), 11287575 (1), 11448156 (1), 15306840 (1) (see all 34)
    cancer 47.83 196 18987663 (4), 16357147 (4), 16823836 (4), 16675573 (3) (see all 99)
    About this table

    1 PharmGKB disease relationship for CXCR4 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    HIVPD  10203379
    About this table

    Human Gene Mutation Database: CXCR4
    Genetic Association Database: CXCR4
    Human Genome Epidemiology Navigator: CXCR4 (46 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/1616 PubMed articles for CXCR4 gene (see all 1616 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 7852 HGNC: 2561 AceView: CXCR4 Ensembl:ENSG00000121966 euGenes: HUgn7852
    ECgene: CXCR4 H-InvDB: CXCR4
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for CXCR4 Genetics and Cytogenetics in Oncology and Haematology
    CXCR4basehttp://bioinf.uta.fi/CXCR4base/
    Wikipedia http://en.wikipedia.org/wiki/CXC_chemokine_receptors
    Wikipedia http://en.wikipedia.org/wiki/CXCR4
    SeattleSNPshttp://pga.gs.washington.edu/data/cxcr4/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    Licensable Technologies for CXCR4 gene:
     Weizmann Institute:Enrichment of Repopulating Stem Cells For Clinical Protocols
     Salk Institute: Alpha-Complementation Viral Fusion Assay

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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