Identity
HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
C14orf109,DMAN
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: 26175
HGNC: 20218
Ensembl: ENSG00000153485
Variants:
dbSNP: 26175
ClinVar: 26175
TCGA: ENSG00000153485
COSMIC: TMEM251
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000153485 | ENST00000283534 | Q8N6I4 |
| ENSG00000153485 | ENST00000415050 | Q8N6I4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36633450 | 2023 | LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway. | 0 |
| 36633450 | 2023 | LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway. | 0 |
| 36074821 | 2022 | The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection. | 25 |
| 36074822 | 2022 | Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins. | 22 |
| 36074821 | 2022 | The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection. | 25 |
| 36074822 | 2022 | Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins. | 22 |
| 33252156 | 2021 | Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. | 8 |
| 33252156 | 2021 | Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. | 8 |
Citation
Dessen P
TMEM251 (transmembrane protein 251)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74914/tmem251-(transmembrane-protein-251)
