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

Cytoband

q28

Chromosome location (bp)

149596556 - 149631912

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000269556 (version 78.38)

Entrez gene

84548

UniProt

Q8NFB2 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NFB2

Antibodypedia

TMEM185A antibodies
 

PROTEIN VIEW

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TMEM185A-001
 
TMEM185A-002
 
TMEM185A-005
 
TMEM185A-006
 
TMEM185A-201
 
TMEM185A-202
 
 
 
 
 

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 ENSP00000471932
ENST00000600449
Q8NFB2
Show all »
Show » Show » 350 40.6 No 8
TMEM185A-002 ENSP00000427766
ENST00000507237
E7EMM1
Show all »
Show » 173 20.1 No 5
TMEM185A-005 ENSP00000428659
ENST00000511776
E5RGV1
Show all »
Show » 60 7 No 1
TMEM185A-006 ENSP00000427814
ENST00000502858
B3KY49
Show all »
Show » 223 25.9 No 3
TMEM185A-201 ENSP00000483235
ENST00000611119
B7Z4G6
Show all »
Show » 291 33.9 No 6
TMEM185A-202 ENSP00000482375
ENST00000613273
B3KY49
Show all »
Show » 172 20 No 3