Identity
HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
IBP,SLAT,SWAP70L
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 50619
MIM: 610094
HGNC: 2760
Ensembl: ENSG00000023892
Variants:
dbSNP: 50619
ClinVar: 50619
TCGA: ENSG00000023892
COSMIC: DEF6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000023892 | ENST00000316637 | Q9H4E7 |
| ENSG00000023892 | ENST00000444278 | H0Y7V7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32562707 | 2021 | DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity. | 15 |
| 32562707 | 2021 | DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity. | 15 |
| 33000227 | 2020 | High expression levels of DEF6 predicts a poor prognosis for patients with clear cell renal cell carcinoma. | 5 |
| 33000227 | 2020 | High expression levels of DEF6 predicts a poor prognosis for patients with clear cell renal cell carcinoma. | 5 |
| 28314855 | 2017 | Def6 Restrains Osteoclastogenesis and Inflammatory Bone Resorption. | 9 |
| 28314855 | 2017 | Def6 Restrains Osteoclastogenesis and Inflammatory Bone Resorption. | 9 |
| 27488395 | 2016 | DEF6 expression in ovarian carcinoma correlates with poor patient survival. | 8 |
| 27488395 | 2016 | DEF6 expression in ovarian carcinoma correlates with poor patient survival. | 8 |
| 22829599 | 2012 | DEF6, 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. | 14 |
| 23088770 | 2012 | Ectopically expressed IBP promotes cell proliferation in oral squamous cell carcinoma. | 7 |
| 22829599 | 2012 | DEF6, 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. | 14 |
| 23088770 | 2012 | Ectopically expressed IBP promotes cell proliferation in oral squamous cell carcinoma. | 7 |
| 20406964 | 2010 | Risk of meningioma and common variation in genes related to innate immunity. | 21 |
| 20438785 | 2010 | Polymorphisms in innate immunity genes and risk of childhood leukemia. | 12 |
| 20546612 | 2010 | The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. | 28 |
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
