DEF6 (DEF6 guanine nucleotide exchange factor)

2006-10-01  

Identity

HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
IBP,SLAT,SWAP70L
FUSION GENES

Other Information

Locus ID:

NCBI: 50619
MIM: 610094
HGNC: 2760
Ensembl: ENSG00000023892

Variants:

dbSNP: 50619
ClinVar: 50619
TCGA: ENSG00000023892
COSMIC: DEF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000023892ENST00000316637Q9H4E7
ENSG00000023892ENST00000444278H0Y7V7

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
129231832003T cell receptor engagement leads to the recruitment of IBP, a novel guanine nucleotide exchange factor, to the immunological synapse.40
126510662003Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system.38
150235242004DEF6, a novel PH-DH-like domain protein, is an upstream activator of the Rho GTPases Rac1, Cdc42, and RhoA.20
171218472007Cooperation of DEF6 with activated Rac in regulating cell morphology.20
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
228295992012DEF6, a novel substrate for the Tec kinase ITK, contains a glutamine-rich aggregation-prone region and forms cytoplasmic granules that co-localize with P-bodies.12
193933452009The ectopic expression of IFN regulatory factor 4-binding protein is correlated with the malignant behavior of human breast cancer cells.10
196790602009Overexpression of the Interferon regulatory factor 4-binding protein in human colorectal cancer and its clinical significance.9

Citation

Dessen P

DEF6 (DEF6 guanine nucleotide exchange factor)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43226/def6