TMEM185A

GENE INFORMATION

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Gene name

TMEM185A (HGNC Symbol)

Synonyms

CXorf13, FAM11A

Description

transmembrane protein 185A (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

148678216 - 148713568

Ensembl

ENSG00000155984 (version 73.37)

Entrez gene

84548

UniProt

Q8NFB2 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8NFB2

Antibodypedia

TMEM185A antibodies
 

PROTEIN VIEW

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TMEM185A-001
 
TMEM185A-002
 
TMEM185A-003
 
TMEM185A-004
 
TMEM185A-005
 
TMEM185A-006
 
TMEM185A-007
 
TMEM185A-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TMEM185A-001 ENSP00000359449
ENST00000316916
Q8NFB2
Show all »
Show » Show » 350 40.6 No 8
TMEM185A-002 ENSP00000427766
ENST00000507237
E7EMM1
Show all »
Show » 173 20.1 No 5
TMEM185A-003 ENSP00000428852
ENST00000502900
E5RFI9
Show all »
Show » 79 9.1 No 2
TMEM185A-004 ENSP00000429625
ENST00000502618
Show » 60 6.8 No 1
TMEM185A-005 ENSP00000428659
ENST00000511776
E5RGV1
Show all »
Show » 60 7 No 1
TMEM185A-006 ENSP00000427814
ENST00000502858
Show » 223 25.8 No 3
TMEM185A-007 ENSP00000429207
ENST00000513505
E5RJ20
Show all »
45 5.1 No 0
TMEM185A-201 ENSP00000443119
ENST00000536359
F5H5U0
Show all »
Show » 291 33.9 No 6