UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats)

2012-08-01  

Identity

HGNC
UACA
LOCATION
15q23
LOCUSID
55075
ALIAS
NUCLING
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55075
MIM: 612516
HGNC: 15947
Ensembl: ENSG00000137831

Variants:

dbSNP: 55075
ClinVar: 55075
TCGA: ENSG00000137831
COSMIC: UACA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137831ENST00000322954Q9BZF9
ENSG00000137831ENST00000379983Q9BZF9
ENSG00000137831ENST00000539319F5H2B9
ENSG00000137831ENST00000558758H0YN48
ENSG00000137831ENST00000560167H0YMI1
ENSG00000137831ENST00000560441H0YNH8

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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
224074862012Down-regulated expression of apoptosis-associated genes APIP and UACA in non-small cell lung carcinoma.10
279288732017Lycopene inhibits regulator of calcineurin 1-mediated apoptosis by reducing oxidative stress and down-regulating Nucling in neuronal cells.5
153581942004Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease.3

Citation

Dessen P

UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52832/uaca