TMEM114 (transmembrane protein 114)

2014-11-01  

Identity

HGNC
LOCATION
16p13.2
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 283953
MIM: 611579
HGNC: 33227
Ensembl: ENSG00000232258

Variants:

dbSNP: 283953
ClinVar: 283953
TCGA: ENSG00000232258
COSMIC: TMEM114

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000232258ENST00000568335H3BM71
ENSG00000232258ENST00000620492B3SHH9
ENSG00000232258ENST00000624696A0A096LNY9

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
174926392007Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.0
216896512011The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.0

Citation

Dessen P

TMEM114 (transmembrane protein 114)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74780/tmem114