TMEM47 (transmembrane protein 47)

2014-11-01  

Identity

HGNC
LOCATION
Xp21.1
LOCUSID
ALIAS
BCMP1,TM4SF10,VAB-9

Other Information

Locus ID:

NCBI: 83604
MIM: 300698
HGNC: 18515
Ensembl: ENSG00000147027

Variants:

dbSNP: 83604
ClinVar: 83604
TCGA: ENSG00000147027
COSMIC: TMEM47

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147027ENST00000275954Q9BQJ4
ENSG00000147027ENST00000275954A0A024RBY7

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
114726332001Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the Claudins.15
218810012011TM4SF10 and ADAP interaction in podocytes: role in Fyn activity and nephrin phosphorylation.7
153450282004TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.4

Citation

Dessen P

TMEM47 (transmembrane protein 47)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74949/tmem47