RC3H2 (ring finger and CCCH-type domains 2)

2012-11-01  

Identity

HGNC
RC3H2
LOCATION
9q33.2
LOCUSID
54542
ALIAS
MNAB,RNF164
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54542
MIM: 615231
HGNC: 21461
Ensembl: ENSG00000056586

Variants:

dbSNP: 54542
ClinVar: 54542
TCGA: ENSG00000056586
COSMIC: RC3H2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000056586ENST00000335387A6NHN2
ENSG00000056586ENST00000357244Q9HBD1
ENSG00000056586ENST00000357244A0A024R899
ENSG00000056586ENST00000373670Q9HBD1
ENSG00000056586ENST00000373670A0A024R899
ENSG00000056586ENST00000398671Q4VXB2
ENSG00000056586ENST00000423239Q9HBD1
ENSG00000056586ENST00000454740H0Y5D9
ENSG00000056586ENST00000471874Q9HBD1
ENSG00000056586ENST00000498479Q9HBD1

Expression (GTEx)

0
5
10
15
20
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
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
262496982015Structure of human Roquin-2 and its complex with constitutive-decay element RNA.10
264896702015New Insights into the RNA-Binding and E3 Ubiquitin Ligase Activities of Roquins.10
296957872018Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2.8

Citation

Dessen P

RC3H2 (ring finger and CCCH-type domains 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53036/rc3h2