DEF8 (differentially expressed in FDCP 8 homolog)

2014-11-01  

Identity

HGNC
DEF8
LOCATION
16q24.3
LOCUSID
54849
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54849
HGNC: 25969
Ensembl: ENSG00000140995

Variants:

dbSNP: 54849
ClinVar: 54849
TCGA: ENSG00000140995
COSMIC: DEF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140995ENST00000268676Q6ZN54
ENSG00000140995ENST00000418391Q6ZN54
ENSG00000140995ENST00000561741H3BTS7
ENSG00000140995ENST00000561784H3BQ81
ENSG00000140995ENST00000561959H3BSH6
ENSG00000140995ENST00000562578H3BMT5
ENSG00000140995ENST00000562986H3BQX9
ENSG00000140995ENST00000563594Q6ZN54
ENSG00000140995ENST00000563795Q6ZN54
ENSG00000140995ENST00000564836H3BNN0
ENSG00000140995ENST00000566079H3BT01
ENSG00000140995ENST00000566820H3BQH5
ENSG00000140995ENST00000567874Q6ZN54
ENSG00000140995ENST00000567884H3BRA7
ENSG00000140995ENST00000567999H3BT87
ENSG00000140995ENST00000569061H3BMP4
ENSG00000140995ENST00000569453Q6ZN54
ENSG00000140995ENST00000570182Q6ZN54
ENSG00000140995ENST00000610455Q6ZN54
ENSG00000140995ENST00000617948Q6ZN54

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
gallbladder
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
359217082022Involvement of autophagic protein DEF8 in Lewy bodies.1
359217082022Involvement of autophagic protein DEF8 in Lewy bodies.1
336125422021DEF8 and Autophagy-Associated Genes Are Altered in Mild Cognitive Impairment, Probable Alzheimer's Disease Patients, and a Transgenic Model of the Disease.4
336125422021DEF8 and Autophagy-Associated Genes Are Altered in Mild Cognitive Impairment, Probable Alzheimer's Disease Patients, and a Transgenic Model of the Disease.4

Citation

Dessen P

DEF8 (differentially expressed in FDCP 8 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62379/def8-(differentially-expressed-in-fdcp-8-homolog)