Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: TMEM185A (transmembrane protein 185A) Homo sapiens
Analyze
Symbol: TMEM185A
Name: transmembrane protein 185A
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CXorf13; ee3; FAM11A; family with sequence similarity 11, member A; fragile site, folic acid type, rare, fra(X)(q28); fragile site, folic acid type, rare, fra(X)(q28) F; FRAXF; MGC118844; MGC118845
Orthologs:
Mus musculus (house mouse) : Tmem185a (transmembrane protein 185A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tmem185a (transmembrane protein 185A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tmem185a (transmembrane protein 185A)
Pan paniscus (bonobo/pygmy chimpanzee) : TMEM185A (transmembrane protein 185A)
Canis lupus familiaris (dog) : TMEM185A (transmembrane protein 185A)
Sus scrofa (pig) : TMEM185A (transmembrane protein 185A)
more info ...
Related Pseudogenes: TMEM185AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X149,596,556 - 149,631,912 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X148,678,216 - 148,713,487 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X148,486,015 - 148,521,375 (-)NCBINCBI36hg18NCBI36
Build 34X148,383,869 - 148,419,229NCBI
CeleraX149,150,389 - 149,185,619 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX137,631,993 - 137,666,784 (-)NCBIHuRef
CHM1_1X148,639,114 - 148,674,470 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TMEM185A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1347995
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.