Identity
HGNC
LOCATION
14q22.3
LOCUSID
ALIAS
C14orf101,SHDRA
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: 54916
MIM: 617449
HGNC: 20185
Ensembl: ENSG00000070269
Variants:
dbSNP: 54916
ClinVar: 54916
TCGA: ENSG00000070269
COSMIC: TMEM260
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38351237 | 2024 | Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population. | 1 |
| 38409496 | 2024 | The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease. | 0 |
| 38351237 | 2024 | Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population. | 1 |
| 38409496 | 2024 | The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease. | 0 |
| 37186866 | 2023 | The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. | 5 |
| 37186866 | 2023 | The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. | 5 |
| 34612517 | 2022 | Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. | 8 |
| 34612517 | 2022 | Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. | 8 |
| 28318500 | 2017 | Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. | 17 |
| 28318500 | 2017 | Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. | 17 |
| 24831772 | 2014 | A polymorphism at the microRNA binding site in the 3' untranslated region of C14orf101 is associated with non-Hodgkin lymphoma overall survival. | 10 |
| 24831772 | 2014 | A polymorphism at the microRNA binding site in the 3' untranslated region of C14orf101 is associated with non-Hodgkin lymphoma overall survival. | 10 |
Citation
Dessen P
TMEM260 (transmembrane protein 260)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54835/deep-insight-explorer/
