Human Gene TMEM185A (uc022cgl.1) Description and Page Index
  Description: Homo sapiens transmembrane protein 185A (TMEM185A), transcript variant 1, mRNA.
RefSeq Summary (NM_032508): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:148,678,216-148,713,487 Size: 35,272 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chrX:148,679,671-148,713,263 Size: 33,593 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:148,678,216-148,713,487)mRNA (may differ from genome)Protein (350 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Transmembrane protein 185A; AltName: Full=Protein FAM11A;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the TMEM185 family.
SEQUENCE CAUTION: Sequence=AAH13793.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: TMEM185A
Diseases sorted by gene-association score: fraxf syndrome* (350)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.30224-0.483 Picture PostScript Text
3' UTR -535.911455-0.368 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019396 - TM_Fragile-X-F-assoc

Pfam Domains:
PF10269 - Transmembrane Fragile-X-F protein

ModBase Predicted Comparative 3D Structure on Q8NFB2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  LF211509 - JP 2014500723-A/19012: Polycomb-Associated Non-Coding RNAs.
BC013793 - Homo sapiens transmembrane protein 185A, mRNA (cDNA clone IMAGE:4214132), complete cds.
AF353675 - Homo sapiens unknown mRNA.
AF530473 - Homo sapiens family with sequence similarity 11 member A (FAM11A) mRNA, complete cds.
AK128688 - Homo sapiens cDNA FLJ46855 fis, clone UTERU3010029, highly similar to Protein FAM11A.
AK097391 - Homo sapiens cDNA FLJ40072 fis, clone TESTI2000172.
AK096308 - Homo sapiens cDNA FLJ38989 fis, clone NT2RI2007629, highly similar to Protein FAM11A.
JD080402 - Sequence 61426 from Patent EP1572962.
JD060194 - Sequence 41218 from Patent EP1572962.
JD308681 - Sequence 289705 from Patent EP1572962.
JD414291 - Sequence 395315 from Patent EP1572962.
JD292033 - Sequence 273057 from Patent EP1572962.
JD043741 - Sequence 24765 from Patent EP1572962.
JD303258 - Sequence 284282 from Patent EP1572962.
JD503487 - Sequence 484511 from Patent EP1572962.
JD284375 - Sequence 265399 from Patent EP1572962.
JD489456 - Sequence 470480 from Patent EP1572962.
JD536402 - Sequence 517426 from Patent EP1572962.
JD311036 - Sequence 292060 from Patent EP1572962.
JD051473 - Sequence 32497 from Patent EP1572962.
JD500681 - Sequence 481705 from Patent EP1572962.
JD545798 - Sequence 526822 from Patent EP1572962.
JD309407 - Sequence 290431 from Patent EP1572962.
BC103821 - Homo sapiens transmembrane protein 185A, mRNA (cDNA clone MGC:118844 IMAGE:40000939), complete cds.
BC103822 - Homo sapiens transmembrane protein 185A, mRNA (cDNA clone MGC:118845 IMAGE:40000940), complete cds.
JD276946 - Sequence 257970 from Patent EP1572962.
JD156037 - Sequence 137061 from Patent EP1572962.
JD280716 - Sequence 261740 from Patent EP1572962.
JD504449 - Sequence 485473 from Patent EP1572962.
LF380582 - JP 2014500723-A/188085: Polycomb-Associated Non-Coding RNAs.
JD025044 - Sequence 6068 from Patent EP1572962.
JD028726 - Sequence 9750 from Patent EP1572962.
JD419989 - Sequence 401013 from Patent EP1572962.
JD026404 - Sequence 7428 from Patent EP1572962.
JD028314 - Sequence 9338 from Patent EP1572962.
JD267874 - Sequence 248898 from Patent EP1572962.
JD029019 - Sequence 10043 from Patent EP1572962.
JD144378 - Sequence 125402 from Patent EP1572962.
JD531965 - Sequence 512989 from Patent EP1572962.
JD134737 - Sequence 115761 from Patent EP1572962.
JD172925 - Sequence 153949 from Patent EP1572962.
JD199124 - Sequence 180148 from Patent EP1572962.
JD550808 - Sequence 531832 from Patent EP1572962.
JD390175 - Sequence 371199 from Patent EP1572962.
JD253472 - Sequence 234496 from Patent EP1572962.
JD143631 - Sequence 124655 from Patent EP1572962.
AK297335 - Homo sapiens cDNA FLJ52946 complete cds, highly similar to Protein FAM11A.
JD215255 - Sequence 196279 from Patent EP1572962.
JD444621 - Sequence 425645 from Patent EP1572962.
CU680682 - Synthetic construct Homo sapiens gateway clone IMAGE:100017962 5' read TMEM185A mRNA.
KJ904916 - Synthetic construct Homo sapiens clone ccsbBroadEn_14310 TMEM185A gene, encodes complete protein.
KJ899806 - Synthetic construct Homo sapiens clone ccsbBroadEn_09200 TMEM185A gene, encodes complete protein.
LF380583 - JP 2014500723-A/188086: Polycomb-Associated Non-Coding RNAs.
LF380584 - JP 2014500723-A/188087: Polycomb-Associated Non-Coding RNAs.
BC103820 - Homo sapiens transmembrane protein 185A, mRNA (cDNA clone IMAGE:40000937), partial cds.
BC022405 - Homo sapiens transmembrane protein 185A, mRNA (cDNA clone IMAGE:4711870), complete cds.
LF380588 - JP 2014500723-A/188091: Polycomb-Associated Non-Coding RNAs.
JD409543 - Sequence 390567 from Patent EP1572962.
JD222239 - Sequence 203263 from Patent EP1572962.
JD409082 - Sequence 390106 from Patent EP1572962.
LF380591 - JP 2014500723-A/188094: Polycomb-Associated Non-Coding RNAs.
JD483855 - Sequence 464879 from Patent EP1572962.
JD224579 - Sequence 205603 from Patent EP1572962.
MA447086 - JP 2018138019-A/19012: Polycomb-Associated Non-Coding RNAs.
MA616159 - JP 2018138019-A/188085: Polycomb-Associated Non-Coding RNAs.
MA616160 - JP 2018138019-A/188086: Polycomb-Associated Non-Coding RNAs.
MA616161 - JP 2018138019-A/188087: Polycomb-Associated Non-Coding RNAs.
MA616165 - JP 2018138019-A/188091: Polycomb-Associated Non-Coding RNAs.
MA616168 - JP 2018138019-A/188094: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KTZ3, CXorf13, FAM11A, NM_032508, NP_115897, Q3SYH1, Q8NFB2, Q96CW3, Q96KE8, T185A_HUMAN
UCSC ID: uc022cgl.1
RefSeq Accession: NM_032508
Protein: Q8NFB2 (aka T185A_HUMAN)
CCDS: CCDS14689.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_032508.2
exon count: 7CDS single in 3' UTR: no RNA size: 2732
ORF size: 1053CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 2291.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.