Identity
HGNC
LOCATION
17q11.2
LOCUSID
ALIAS
C17orf32,CDG2P,VMA12,VPH2
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: 147007
MIM: 616815
HGNC: 18085
Ensembl: ENSG00000244045
Variants:
dbSNP: 147007
ClinVar: 147007
TCGA: ENSG00000244045
COSMIC: TMEM199
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000244045 | ENST00000292114 | Q8N511 |
| ENSG00000244045 | ENST00000395404 | K7EJL8 |
| ENSG00000244045 | ENST00000555264 | J3KS81 |
| ENSG00000244045 | ENST00000580868 | J3KRW7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36706865 | 2023 | Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation. | 0 |
| 36706865 | 2023 | Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation. | 0 |
| 34626841 | 2022 | Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115. | 5 |
| 34626841 | 2022 | Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115. | 5 |
| 28296633 | 2017 | The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels. | 53 |
| 28296633 | 2017 | The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels. | 53 |
| 26833330 | 2016 | TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. | 48 |
| 26833330 | 2016 | TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. | 48 |
Citation
Dessen P
TMEM199 (transmembrane protein 199)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74865/tmem199-(transmembrane-protein-199)
