FAF2 (Fas associated factor family member 2)

2014-11-01  

Identity

HGNC
FAF2
LOCATION
5q35.2
LOCUSID
23197
ALIAS
ETEA,UBXD8,UBXN3B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23197
MIM: 616935
HGNC: 24666
Ensembl: ENSG00000113194

Variants:

dbSNP: 23197
ClinVar: 23197
TCGA: ENSG00000113194
COSMIC: FAF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113194ENST00000261942Q96CS3
ENSG00000113194ENST00000510730D6RBG6

Expression (GTEx)

0
10
20
30
40
50
60
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

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

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
232972232013Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover.66
222383642012Derlin-1 and UBXD8 are engaged in dislocation and degradation of lipidated ApoB-100 at lipid droplets.35
211158392010Identification of Ubxd8 protein as a sensor for unsaturated fatty acids and regulator of triglyceride synthesis.33
224545082012The ubiquitin-like (UBX)-domain-containing protein Ubx2/Ubxd8 regulates lipid droplet homeostasis.31
201600122010The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans.22
272955532016Peroxin-dependent targeting of a lipid-droplet-destined membrane protein to ER subdomains.19
123724272002Cloning and characterization of the highly expressed ETEA gene from blood cells of atopic dermatitis patients.6
237208222013UAS domain of Ubxd8 and FAF1 polymerizes upon interaction with long-chain unsaturated fatty acids.6
298995532018UBXN3B positively regulates STING-mediated antiviral immune responses.5
288828742017Haploid Mammalian Genetic Screen Identifies UBXD8 as a Key Determinant of HMGCR Degradation and Cholesterol Biosynthesis.4

Citation

Dessen P

FAF2 (Fas associated factor family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62974/faf2