RNF207 (ring finger protein 207)

2014-11-01  

Identity

HGNC
RNF207
LOCATION
1p36.31
LOCUSID
388591
ALIAS
C1orf188
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 388591
MIM: 616923
HGNC: 32947
Ensembl: ENSG00000158286

Variants:

dbSNP: 388591
ClinVar: 388591
TCGA: ENSG00000158286
COSMIC: RNF207

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158286ENST00000377939Q6ZRF8

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
N/A

References

Pubmed IDYearTitleCitations
346344432022Disruption of protein quality control of the human ether-à-go-go related gene K(+) channel results in profound long QT syndrome.4
346344432022Disruption of protein quality control of the human ether-à-go-go related gene K(+) channel results in profound long QT syndrome.4
305422072019Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.5
305422072019Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.5
255991942015Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction.11
255991942015Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction.11
252817472014RING finger protein RNF207, a novel regulator of cardiac excitation.22
252817472014RING finger protein RNF207, a novel regulator of cardiac excitation.22
193054082009Common variants at ten loci influence QT interval duration in the QTGEN Study.208
193054092009Common variants at ten loci modulate the QT interval duration in the QTSCD Study.181
193054082009Common variants at ten loci influence QT interval duration in the QTGEN Study.208
193054092009Common variants at ten loci modulate the QT interval duration in the QTSCD Study.181

Citation

Dessen P

RNF207 (ring finger protein 207)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72700/rnf207-(ring-finger-protein-207)