Annotation Detail
Information
- Associated Genes
- CXCL12
- Associated Variants
-
CXCR4 p.Arg338Ter (p.R338*)
(
ENST00000241393.4,
ENST00000409817.1,
ENST00000466288.1,
ENST00000696136.1,
ENST00000696137.1,
ENST00000696152.1,
ENST00000696228.1 )
CXCR4 p.Arg338Ter (p.R338*) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 ) - Associated Disease
- WHIM syndrome
- Source Database
- DisGeNET
- Description
- CXCL12 stimulation triggered CXCR4(R334X) internalization in FLNA-deficient M2 cells but not in the FLNA-expressing M2 subclone A7; this suggests a role for FLNA in stabilization of WHIM-like CXCR4 at the cell surface.
- Pubmed
- 25355818
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2015
Drugs