Biomarker: CXCR4

Histology type: endometrial carcinoma

Followed up time :

Conclusion: CXCR4 is expected to become two target gene for the treatment of endometrial carcinoma.The expression levels of CXCR4 could be inhibited by RNA interference, reducing the cell proliferation, invasion in Ishikawa and HEC-1-A cells.

Sample method: RT-PCR/Western blotting

Expression pattern : expression

Funtion description: The expression levels of CXCR4 and CXCR7 could be inhibited by RNA interference, reducing the cell proliferation, invasion in Ishikawa and HEC-1-A cells. In this study, we also observed that treated with CXCR4 and CXCR7 small interfering RNA (siRNA) arrested cells in S phase. CXCL12/CXCR4 and CXCL12/CXCR7 receptor ligand systems affect the invasion of endometrial carcinoma cell line into Ishikawa and HEC-1-A. CXCR4 and CXCR7 were silenced by RNAi, which can inhibit the invasion of Ishikawa and HEC-1-A cell lines.

Funtion Uniprot: 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).By Similarity14 Publications (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)

UniProt ID: P61073

UniProt Link: https://www.uniprot.org/uniprotkb/P61073/entry

Biological function from UniProt: #Host-virus interaction

Molecular function from UniProt:

Tissue specificity from UniProt: 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.

Subcellular UniProt: #Cell junction #Cell membrane #Endosome #Lysosome #Membrane

Alternative name from UniProt:

Caution: Was originally thought to be a receptor for neuropeptide Y type 3 (NPY3R) (NPY3-R) (PubMed:8329116 and PubMed:8234909). Later reports showed that it acts as a receptor for the C-X-C chemokine CXCL12/SDF-1 (PubMed:9427609, PubMed:10825158, PubMed:12034737).

Miscellaneous: Plerixafor (AMD3100), an antagonist of CXCR4 activity, blocks HIV-1 entry, interaction with CXCL12 and subsequent CXCR4 signaling.

Recommended name: C-X-C chemokine receptor type 4

Gene name from HGNC: CXCR4 (CD184, D2S201E, fusin, HM89, HSY3RR, LESTR, NPY3R, NPYR, NPYY3R)

CD antigen name: CD184

HPA class: Cancer-related genes CD markers Disease related genes FDA approved drug targets G-protein coupled receptors Human disease related genes Transporters

AlphaFold DB: P61073

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P61073

Induction: (Microbial infection) May be down-regulated by Human cytomegalovirus/HHV-5. (Microbial infection) May be down-regulated by HIV-1 tat.

HPA link: https://www.proteinatlas.org/ENSG00000121966-CXCR4

Tissue specificity RNA from HPA: Tissue enhanced (bone marrow, lymphoid tissue)

Single cell type specificity Cell type enhanced (B-cells, T-cells, dendritic cells, Plasma cells, Macrophages, Langerhans cells)

Immune cell specificity: Low immune cell specificity

Cancer prognostic summary HPA Prognostic marker in renal cancer (unfavorable), ovarian cancer (favorable) and stomach cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000121966-CXCR4/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000121966-CXCR4/pathology/endometrial+cancer

Phenotype ID: 193670

Disease: WHIM syndrome 1 (WHIMS1);No disease ID;

Note1: The disease is caused by variants affecting the gene represented in this entry;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;

OMIM: 162643

OMIM link1: https://www.omim.org/entry/193670

OMIM link2: https://www.omim.org/entry/162643

HGNC ID: HGNC:2561

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2561