TMEM199 (transmembrane protein 199)

2014-11-01  

Identity

HGNC
LOCATION
17q11.2
LOCUSID
ALIAS
C17orf32,CDG2P,VMA12,VPH2
FUSION GENES

Other Information

Locus ID:

NCBI: 147007
MIM: 616815
HGNC: 18085
Ensembl: ENSG00000244045

Variants:

dbSNP: 147007
ClinVar: 147007
TCGA: ENSG00000244045
COSMIC: TMEM199

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244045ENST00000292114Q8N511
ENSG00000244045ENST00000395404K7EJL8
ENSG00000244045ENST00000555264J3KS81
ENSG00000244045ENST00000580868J3KRW7

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
367068652023Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.0
367068652023Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.0
346268412022Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.5
346268412022Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.5
282966332017The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.53
282966332017The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.53
268333302016TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.48
268333302016TMEM199 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/js/teaching-explorer/humanGenome