CXCR4 (Entrez ID: 7852)

Entrez Gene ID	7852
Official Gene Symbol	CXCR4 (GeneCards)
Full name	C-X-C motif chemokine receptor 4
Location	2q22.1
Other ids	Vega : OTTHUMG00000153583 MIM : 162643 HGNC : HGNC:2561 Ensembl : ENSG00000121966
Other names	FB22, HM89, LAP3, LCR1, NPYR, WHIM, CD184, LAP-3, LESTR, NPY3R, NPYRL, WHIMS, HSY3RR, NPYY3R, D2S201E
Summary	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]

Variants

Found 13 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
2951	7852	CXCR4	2	137181994	137181994	Asymptomatic	HiSeq X Ten
3798	7852	CXCR4	2	137360709	137360709	Asymptomatic	HiSeq X Ten
3856	7852	CXCR4	2	137566253	137566253	Asymptomatic	HiSeq X Ten
3915	7852	CXCR4	2	137512481	137512481	Asymptomatic	HiSeq X Ten
4223	7852	CXCR4	2	137658014	137658014	Asymptomatic	HiSeq X Ten
4307	7852	CXCR4	2	137309518	137309518	Cockayne syndrome	HiSeq X Ten
4370	7852	CXCR4	2	136989892	136989892	Cockayne syndrome	HiSeq X Ten
4392	7852	CXCR4	2	137559681	137559681	Cockayne syndrome	HiSeq X Ten
4557	7852	CXCR4	2	137722950	137722950	Xeroderma Pigmentosum	HiSeq X Ten
24650	7852	CXCR4	2	137322314	137322314	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
24882	7852	CXCR4	2	137152153	137152153	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
24919	7852	CXCR4	2	136959991	136959991	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
24995	7852	CXCR4	2	137281747	137281747	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning