WHIM syndrome

Gene Information

Names

HUGO name: CXCR4

Alias(es):

  • D2S201E
  • HM89
  • HSY3RR
  • LESTR
  • NPY3R
  • NPYR
  • NPYY3
  • NPYY3R
  • fusin
  • chemokine (C-X-C motif) receptor 4
  • neuropeptide Y receptor Y3
  • C-X-C chemokine receptor type 4
  • Stromal cell- derived factor 1 receptor
  • SDF-1 receptor
  • Leukocyte-derived seven transmembrane domain receptor
  • LCR1
  • FB22
  • NPYRL
  • CD184 antigen

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Receptor for the c-x-c chemokine 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 remodelling processes in endothelial cells. Could be involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival. Acts as a primary receptor for some HIV-2 isolates and as a co-receptor with CD4 for HIV-1 x4 viruses (lymphocyte-tropic HIV-1 viruses, also called syncytium-inducing (si) strains). Promotes env-mediated fusion of the virus.

Subcellular location:

Integral membrane protein.

Post-translational modification:

Sulfated

Caution:

Was originally thought to be a receptor for neuropeptide y, type 3 (npy3-r).

Structures (PDB)

Domains

Extracellular domain: 1-39

    Cytoplasmic domain: 64-79

      Extracellular domain: 100-110

        Cytoplasmic domain: 133-154

          Extracellular domain: 176-200

            Cytoplasmic domain: 221-240

              Extracellular domain: 262-285

                Cytoplasmic domain: 306-352

                  Other features

                  N-linked (glcnac...) glycosylation site: 11

                    Disulfide bond : 109-186

                      Other related resourses:

                      Expression

                      Expression pattern for human

                      Tissue Expression (%) Clones
                      germinal center B-cells 10.98 1:623
                      breast tumor 8.12 1:843
                      normal endometrium, late proliferative phase, cycle day 13 6.55 1:1044
                      myeloid cells, 18 pooled CML cases, BCR/ABL rearrangement positive, includes both chronic phase and myeloid blast crisis 5.63 2:2431
                      thyroid 5.11 1:1339
                      moderately differentiated adenocarcinoma 4.44 2:3082
                      lymphoma, follicular mixed small and large cell 3.67 5:9317
                      lung tumor 3.53 1:1939
                      lymphocyte 3.51 1:1949
                      serous papillary carcinoma, high grade, 2 pooled tumors 2.19 5:15638