UBAC2 (UBA domain containing 2)

2014-11-01  

Identity

HGNC
UBAC2
LOCATION
13q32.3
LOCUSID
337867
ALIAS
PHGDHL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 337867
HGNC: 20486
Ensembl: ENSG00000134882

Variants:

dbSNP: 337867
ClinVar: 337867
TCGA: ENSG00000134882
COSMIC: UBAC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134882ENST00000355700X6R5E5
ENSG00000134882ENST00000376440Q8NBM4
ENSG00000134882ENST00000403766Q8NBM4
ENSG00000134882ENST00000403766A0A024RE02
ENSG00000134882ENST00000457666Q5JUH4
ENSG00000134882ENST00000474510A0A087WXT1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219189552011A putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's disease.0
224556052012Replication study confirms the association between UBAC2 and Behçet's disease in two independent Chinese sets of patients and controls.0

Citation

Dessen P

UBAC2 (UBA domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75406/ubac2