Identity
HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
C2F,Grcc2f,NEP1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10436
MIM: 611531
HGNC: 16912
Ensembl: ENSG00000126749
Variants:
dbSNP: 10436
ClinVar: 10436
TCGA: ENSG00000126749
COSMIC: EMG1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000126749 | ENST00000261406 | V9GYP5 |
| ENSG00000126749 | ENST00000539196 | A0A087WVM7 |
| ENSG00000126749 | ENST00000599672 | Q92979 |
| ENSG00000126749 | ENST00000607161 | A0A087WWQ2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 27798105 | 2016 | Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. | 26 |
| 27798105 | 2016 | Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. | 26 |
| 18950845 | 2009 | Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. | 5 |
| 19463982 | 2009 | Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. | 61 |
| 18950845 | 2009 | Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. | 5 |
| 19463982 | 2009 | Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. | 61 |
Citation
Dessen P
EMG1 (EMG1 N1-specific pseudouridine methyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62818/emg1-(emg1-n1-specific-pseudouridine-methyltransferase)
