2. Gene
  3. TMEM185A - transmembrane protein 185A Gene

TMEM185A - transmembrane protein 185A Gene

  • Gene
  • Protein
Homo sapiens (human)

Also known as ee3; FRAXF; FAM11A; CXorf13

Gene ID: 84548 | Gene type: protein coding

About TMEM185A

Summary

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]

TMEM185A Products(1)

mRNA Protein Name
NM_001282302.2 NP_001269231.1 transmembrane protein 185A isoform 3
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15525354 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

transmembrane protein 185A

family with sequence similarity 11, member A

fragile site, folic acid type, rare, fra(X)(q28) F

TMEM185A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TMEM185A Q8NFB2 LPL Homo sapiens P06858
Y2H Array
32814053
Intra
TMEM185A Q8NFB2 LPL Homo sapiens P06858
Validated Y2H
32814053
Intra
TMEM185A Q8NFB2 LPL Homo sapiens P06858
Y2H Pooling
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction