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: 10430
MIM: 613585
HGNC: 30414
Ensembl: ENSG00000105677
Variants:
dbSNP: 10430
ClinVar: 10430
TCGA: ENSG00000105677
COSMIC: TMEM147
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000105677 | ENST00000222284 | Q9BVK8 |
| ENSG00000105677 | ENST00000392204 | Q9BVK8 |
| ENSG00000105677 | ENST00000392205 | A8MU21 |
| ENSG00000105677 | ENST00000593027 | K7ELX3 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37305689 | 2023 | TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma. | 1 |
| 37668766 | 2023 | A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. | 0 |
| 37305689 | 2023 | TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma. | 1 |
| 37668766 | 2023 | A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. | 0 |
| 36044892 | 2022 | Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. | 3 |
| 36044892 | 2022 | Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. | 3 |
| 34638576 | 2021 | Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147. | 3 |
| 34638576 | 2021 | Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147. | 3 |
| 20538592 | 2010 | Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex. | 22 |
| 20538592 | 2010 | Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex. | 22 |
Citation
Dessen P
TMEM147 (transmembrane protein 147)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74807/tmem147-(transmembrane-protein-147)
