TMEM185A

The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]

Description

Transmembrane protein 185A

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins

Chromosome

X (149596556 - 149631912)

Ensembl ID

ENSG00000269556  (ver. 103.38)

Orthologs

Mouse Tmem185a: ENSMUSG00000073139

UniProt

Q8NFB2

neXtProt

NX_Q8NFB2

Human splice variants
Mouse splice variants

Protein structure