UNC50 (unc-50 inner nuclear membrane RNA binding protein)

2014-11-01  

Identity

HGNC
UNC50
LOCATION
2q11.2
LOCUSID
25972
ALIAS
GMH1,HSD23,PDLs22,UNCL,URP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25972
MIM: 617826
HGNC: 16046
Ensembl: ENSG00000115446

Variants:

dbSNP: 25972
ClinVar: 25972
TCGA: ENSG00000115446
COSMIC: UNC50

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115446ENST00000357765Q53HI1
ENSG00000115446ENST00000357765A0A0S2Z612
ENSG00000115446ENST00000393493H7BYK3
ENSG00000115446ENST00000409347J3KQ47
ENSG00000115446ENST00000409975J3KQ47
ENSG00000115446ENST00000423713H7C3J5

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

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
288830402017Genome-wide siRNA screen identifies UNC50 as a regulator of Shiga toxin 2 trafficking.16
170040662007Expression of UNCL during development of periodontal tissue and response of periodontal ligament fibroblasts to mechanical stress in vivo and in vitro.4
257387712015UNC50 prompts G1/S transition and proliferation in HCC by regulation of epidermal growth factor receptor trafficking.3
290168572017Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.1

Citation

Dessen P

UNC50 (unc-50 inner nuclear membrane RNA binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75485/unc50