DEF6 (DEF6 guanine nucleotide exchange factor)

2006-10-01  

Identity

HGNC
DEF6
LOCATION
6p21.31
LOCUSID
50619
ALIAS
IBP,SLAT,SWAP70L
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
325627072021DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.15
325627072021DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.15
330002272020High expression levels of DEF6 predicts a poor prognosis for patients with clear cell renal cell carcinoma.5
330002272020High expression levels of DEF6 predicts a poor prognosis for patients with clear cell renal cell carcinoma.5
283148552017Def6 Restrains Osteoclastogenesis and Inflammatory Bone Resorption.9
283148552017Def6 Restrains Osteoclastogenesis and Inflammatory Bone Resorption.9
274883952016DEF6 expression in ovarian carcinoma correlates with poor patient survival.8
274883952016DEF6 expression in ovarian carcinoma correlates with poor patient survival.8
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.14
230887702012Ectopically expressed IBP promotes cell proliferation in oral squamous cell carcinoma.7
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.14
230887702012Ectopically expressed IBP promotes cell proliferation in oral squamous cell carcinoma.7
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
205466122010The 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