NSUN5 (NOP2/Sun RNA methyltransferase 5)

2014-08-01  

Identity

HGNC
NSUN5
LOCATION
7q11.23
LOCUSID
55695
ALIAS
NOL1,NOL1R,NSUN5A,WBSCR20,WBSCR20A,p120,p120(NOL1)
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55695
MIM: 615732
HGNC: 16385
Ensembl: ENSG00000130305

Variants:

dbSNP: 55695
ClinVar: 55695
TCGA: ENSG00000130305
COSMIC: NSUN5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130305ENST00000252594Q96P11
ENSG00000130305ENST00000310326Q96P11
ENSG00000130305ENST00000428206Q96P11
ENSG00000130305ENST00000438747Q96P11
ENSG00000130305ENST00000455763H7C2G6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
119789652001Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.33
317224272019Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth.2

Citation

Dessen P

NSUN5 (NOP2/Sun RNA methyltransferase 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54511/nsun5