RANGRF (RAN guanine nucleotide release factor)

2014-11-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
HSPC165,HSPC236,MOG1,RANGNRF

Other Information

Locus ID:

NCBI: 29098
MIM: 607954
HGNC: 17679
Ensembl: ENSG00000108961

Variants:

dbSNP: 29098
ClinVar: 29098
TCGA: ENSG00000108961
COSMIC: RANGRF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108961ENST00000226105Q9HD47
ENSG00000108961ENST00000407006Q9HD47
ENSG00000108961ENST00000439238Q9HD47
ENSG00000108961ENST00000580434Q9HD47

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
214478242011MOG1: a new susceptibility gene for Brugada syndrome.53
181846542008Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5.34
216213752011A novel nonsense variant in Nav1.5 cofactor MOG1 eliminates its sodium current increasing effect and may increase the risk of arrhythmias.22
241426752014Brugada syndrome and p.E61X_RANGRF.4
244383562015The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.3
302828062018Mechanistic insights into the interaction of the MOG1 protein with the cardiac sodium channel Nav1.5 clarify the molecular basis of Brugada syndrome.0

Citation

Dessen P

RANGRF (RAN guanine nucleotide release factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72485/rangrf