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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM185A Gene

protein-coding   GIFtS: 48
GCID: GC0XM148678

transmembrane protein 185A

(Previous names: chromosome X open reading frame 13, family with sequence...)
(Previous symbols: CXorf13, FAM11A)
 Explore 6 diseases affiliated with
TMEM185A via our new
 Human Malady Compendium 
Biological research products
for TMEM185A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane Protein 185A1 2     Chromosome X Open Reading Frame 131
FAM11A1 2 3 5     Ee31
CXorf131 2 3     Fragile Site, Folic Acid Type, Rare, Fra(X)(Q28) F2
Family With Sequence Similarity 11, Member A1 2     Protein FAM11A3
FRAXF2 5     

External Ids:    HGNC: 171251   Entrez Gene: 845482   Ensembl: ENSG000001559847   OMIM: 3000315   UniProtKB: Q8NFB23   

Export aliases for TMEM185A gene to outside databases

Previous GC identifers: GC0XM148487 GC0XM137631


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TMEM185A:
The protein encoded by this gene is predicted to be a transmembrane protein, but this has not been experimentally
determined. This gene is better known for localizing to the CpG island of the fragile site FRAXF. The 5-prime
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. Two transcript variants encoding different isoforms have been found for this gene.(provided by
RefSeq, Mar 2010)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011681.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM185A gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   FOXD1   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM185A promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM185A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM185A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

TMEM185A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM185A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM148678:  view genomic region     (about GC identifiers)

Start:
148,678,216 bp from pter      End:
148,713,568 bp from pter
Size:
35,353 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: T185A_HUMAN, Q8NFB2 (See protein sequence)
Recommended Name: Transmembrane protein 185A  
Size: 350 amino acids; 40647 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAH13793.1; Type=Erroneous initiation;
Secondary accessions: B3KTZ3 Q3SYH1 Q96CW3 Q96KE8

Explore the universe of human proteins at neXtProt for TMEM185A: NX_Q8NFB2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NFB2

  • TMEM185A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001167563.1  NP_115897.1  

    ENSEMBL proteins: 
     ENSP00000429207   ENSP00000359449   ENSP00000427814   ENSP00000429625   ENSP00000427766  
     ENSP00000428852   ENSP00000428659   ENSP00000443119  

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    Uscn Proteins for TMEM185A

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    TMEM185A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TMEM185A


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TMEM185A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019396 TM_Fragile-X-F-assoc

    Graphical View of Domain Structure for InterPro Entry Q8NFB2

    ProtoNet protein and cluster: Q8NFB2

    UniProtKB/Swiss-Prot: T185A_HUMAN, Q8NFB2
    Similarity: Belongs to the TMEM185 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-100* hsa-miR-548p hsa-let-7a-2* hsa-miR-466 hsa-let-7g* hsa-miR-3915 hsa-miR-3662 hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidTMEM185A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM185A

    1 GenomeRNAi human phenotype for TMEM185A:
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM185A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TMEM185A (ENSP000003594494) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GBF1ENSP000003590004STRING: ENSP00000359000
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMEM185A
    Search CenterWatch for drugs/clinical trials and news about TMEM185A / T185A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMEM185A gene (2 alternative transcripts): 
    NM_001174092.1  NM_032508.2  

    Unigene Cluster for TMEM185A:

    Transmembrane protein 185A
    Hs.522172  [show with all ESTs]
    Unigene Representative Sequence: AK128688
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513505 ENST00000316916(uc022cgl.1) ENST00000519015 ENST00000502858
    ENST00000502618 ENST00000507237(uc004fdp.4) ENST00000502900 ENST00000517359
    ENST00000511776 ENST00000536359(uc011mxp.2 uc004fdo.3)

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM185A:
    hsa-miR-100* hsa-miR-548p hsa-let-7a-2* hsa-miR-466 hsa-let-7g* hsa-miR-3915 hsa-miR-3662 hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidTMEM185A 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM185A (see all 3)
    OriGene siRNA: TMEM185A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM185A
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM185A
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    Additional cDNA sequence: 

    AF353675.1 AF530473.1 AK096308.1 AK097391.1 AK128688.1 AK297335.1 BC013793.1 BC022405.1 
    BC103820.1 BC103821.1 BC103822.1 

    11 DOTS entries:

    DT.100022373  DT.95091770  DT.100761713  DT.100761714  DT.100642382  DT.91666793  DT.95260135  DT.100673794 
    DT.311496  DT.121288557  DT.102826238 

    24/91 AceView cDNA sequences (see all 91):

    AK096308 NM_032508 AI694721 BE326400 CD557648 AA350736 AA340539 AF530473 
    BF724625 BX279896 AI078112 BQ224383 BE327053 BF445184 BM469272 AF353675 
    BC013793 BE218960 BE045420 BE348698 BM458996 BE552442 F11108 AI338920 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM185A (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b
    SP1:                                            -                                 
    SP2:                    -     -     -           -                                 
    SP3:        -     -     -     -     -     -     -                                 
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for TMEM185A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMEM185A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAATAAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TMEM185A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TMEM185A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM185A

    SOURCE GeneReport for Unigene cluster: Hs.522172
        SABiosciences Custom PCR Arrays for TMEM185A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM185A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TMEM185A gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0238291 , 5 cDNA sequence BC0238291, 5 90.79(n)1
    99.69(a)1
      X (36.04 cM)5
    2368481  NM_001033328.21  NP_001028500.11 
     704597535 
    chicken
    (Gallus gallus)
    Aves TMEM185A1 transmembrane protein 185A 82.1(n)
    95.71(a)
      422391  XM_420360.3  XP_420360.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM185A6
    --
    94(a)
    1 ↔ 1
    GL343310.1(1062948-1066391)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:635721 zgc:63572 76.29(n)
    88(a)
      393409  NM_200437.1  NP_956731.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG141946
    --
    43(a)
    1 → many
    X(19087600-19090080)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y116A8C.91 Protein Y116A8C.9 50.38(n)
    41.97(a)
      178473  NM_070609.3  NP_503010.2 


    ENSEMBL Gene Tree for TMEM185A (if available)
    TreeFam Gene Tree for TMEM185A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM185A gene
    TMEM185B2  
    2 SIMAP similar genes for TMEM185A using alignment to 10 protein entries:     T185A_HUMAN (see all proteins):
    FAM11A    TMEM185B

    TMEM185A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/358 NCBI SNPs in TMEM185A are shown (see all 358    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1864082091,2
    --148678073(+) CTCATC/TCTAAA 3 -- ds5001 us2k10--------
    rs1477166321,2
    --148678802(+) CCGTTC/GTGGCA 3 -- ut31 us2k10--------
    rs1424828221,2
    --148678807(+) CTGGCA/GGTAGC 3 -- us2k1 ut310--------
    rs1998444461,2
    --148680435(+) CGGGT-/CCTGGCC 2 -- int10--------
    rs3949281,2
    F--148683015(-) CTGTGC/TGAATC 2 -- int11Minor allele frequency- T:0.49MN 184
    rs1416569021,2
    C,--148683898(+) ATTTC-/ATTTT 
            
    AATTT
    2 -- int10--------
    rs1902437301,2
    --148683997(+) CCCCAA/GAGATT 2 -- int10--------
    rs1489347381,2
    --148684222(+) ATAGGC/TTTCCT 2 -- int10--------
    rs1436450581,2
    --148684295(+) GAGGAC/TGAAGG 2 -- int10--------
    rs1824561301,2
    --148684302(+) AAGGGC/TAGAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for TMEM185A (148678216 - 148713568 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for TMEM185A
         4 Indels: 83827 83826 29284 97061

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMEM185A for disorders           About GeneDecksing

    OMIM gene information: 300031    OMIM disorders: --

    6 diseases for TMEM185A:    About MalaCards
    pervasive developmental disorder    fragile x syndrome    atypical autism    intellectual disability
    mental disorders    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for TMEM185A:
    Intellectual disability     Fragile X syndrome     Atypical autism     dentatorubral-pallidoluysian atrophy

    Export disorders for TMEM185A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMEM185A gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with TMEM185A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation. (PubMed id 12404111)1, 2, 3, 9 Shaw M.A.... Gecz J. (2002)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Cloning of a novel neuronally expressed orphan G-protein-coupled receptor which is up-regulated by erythropoietin, interacts with microtubule-associated protein 1b and colocalizes with the 5-hydroxytryptamine 2a receptor. (PubMed id 15525354)1 Maurer M.H....Schneider A. (2004)
    5. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. (PubMed id 12806492)1 Steiner C.E....Marques-de-Faria A.P. (2003)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. Population genetics of the FRAXE and FRAXF GCC repeat s, and a novel CGG repeat, in Xq28. (PubMed id 9415475)1 Ritchie R.J....Davies K.E. (1997)
    8. Lack of expansion of triplet repeats in the FMR1, FRA XE, and FRAXF loci in male multiplex families with autism and pervasive develop mental disorders. (PubMed id 8844091)1 Holden J.J....White B.N. (1996)
    9. Trinucleotide repeats at the FRAXF locus: frequency a nd distribution in the general population. (PubMed id 8844097)1 Holden J.J....White B.N. (1996)
    10. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. (PubMed id 7874164)1 Parrish J.E....Nelson D.L. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84548 HGNC: 17125 AceView: FAM11A Ensembl:ENSG00000155984 euGenes: HUgn84548
    ECgene: TMEM185A H-InvDB: TMEM185A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMEM185A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMEM185A gene:
    Search GeneIP for patents involving TMEM185A

    GeneCards and IP:
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