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

TMEM257 Gene

protein-coding   GIFtS: 36
GCID: GC0XP144909

Transmembrane Protein 257

(Previous name: chromosome X open reading frame 1)
(Previous symbol: CXorf1)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane Protein 2571 2
CXorf11 2 3 5
Chromosome X Open Reading Frame 11

External Ids:    HGNC: 25621   Entrez Gene: 91422   Ensembl: ENSG000002218707   OMIM: 3005655   UniProtKB: O960023   

Export aliases for TMEM257 gene to outside databases


(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 TMEM257 Gene:
This intronless gene is expressed in the hippocampus and maps close to a candidate region for several X-linked
mental retardation (XLMR) syndromes. It is conserved in primates, cow, and horse, but not found in mouse and rat.
The exact function of this gene is not known, but on the basis of its physical location and expression pattern,
it is proposed to have an important function in the brain. (provided by RefSeq, Jan 2010)

GeneCards Summary for TMEM257 Gene: 
TMEM257 (transmembrane protein 257) is a protein-coding gene. Diseases associated with TMEM257 include mental retardation. GO annotations related to this gene include molecular_function.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011681.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMEM257
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM257 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM257

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM257


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

Entrez Gene cytogenetic band: Xq27.3   Ensembl cytogenetic band:  Xq27.3   HGNC cytogenetic band: Xq27.3

TMEM257 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM257 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP144909:  view genomic region     (about GC identifiers)

Start:
144,908,928 bp from pter      End:
144,911,374 bp from pter
Size:
2,447 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
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About This Section

UniProtKB/Swiss-Prot: TM257_HUMAN, O96002 (See protein sequence)
Recommended Name: Transmembrane protein 257  
Size: 111 amino acids; 13452 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q14CW0

Explore the universe of human proteins at neXtProt for TMEM257: NX_O96002

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O96002

  • TMEM257 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_004700.1  
    ENSEMBL proteins: 
     ENSP00000386149  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0016021integral to membrane IEA--

    TMEM257 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: O96002


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    TMEM257 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM257

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    TMEM257 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Search CenterWatch for drugs/clinical trials and news about TMEM257 / TM257

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for TMEM257 gene: 
    NM_004709.2  

    Unigene Cluster for TMEM257:

    Transmembrane protein 257
    Hs.106688  [show with all ESTs]
    Unigene Representative Sequence: NM_004709
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000408967(uc004fch.3)
    miRNA
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    Additional mRNA sequence: 

    AF007148.1 BC113600.1 BC113604.1 Y08902.1 

    1 DOTS entry:

    DT.410617 

    15 AceView cDNA sequences:

    Y08902 AF007148 N54868 NM_004709 Z41623 AL134413 BE671225 CK299331 
    BM723298 BM682305 BQ189156 AA625425 T77107 R38176 BE703538 

    GeneLoc Exon Structure


    (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

    TMEM257 expression in normal human tissues (normalized intensities)      TMEM257 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM257 Expression
    About this image


    TMEM257 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    Genevestigator expression for TMEM257

    SOURCE GeneReport for Unigene cluster: Hs.106688

    UniProtKB/Swiss-Prot: TM257_HUMAN, O96002
    Tissue specificity: Brain. In the hippocampus it is mainly localized in the granular-cell layer of the dentate
    gyrus and in the CA2-CA3 subfields of Ammon's horn

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    In Situ
    Assay Products:
     

     
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    (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 human and chimp.

    Orthologs for TMEM257 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia CXHXorf11 chromosome X open reading frame, human CXorf1 99.7(n)
    99.1(a)
      100609288  XM_003317739.1  XP_003317787.1 


    ENSEMBL Gene Tree for TMEM257 (if available)
    TreeFam Gene Tree for TMEM257 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/72 SNPs in TMEM257 are shown (see all 72)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1417323691,2
    --133873621(+) AGCTTA/GAGCAA 1 -- us2k10--------
    rs1895271021,2
    --133873748(+) AACAAA/GCAGCC 1 -- us2k10--------
    rs1821741791,2
    --133873865(+) GCAAGC/TGATGG 1 -- us2k10--------
    rs1455841031,2
    C--133873899(+) CCTTTC/TCATAA 1 -- us2k10--------
    rs1452457911,2
    C--133873905(+) CATAAA/GTAGGT 1 -- us2k10--------
    rs1850746811,2
    --133874139(+) AATAAC/TGTAAA 1 -- us2k10--------
    rs65256321,2
    C,F,A,H--133874164(+) AACATA/GTCTTT 1 -- us2k113Minor allele frequency- G:0.20EA NS NA 1578
    rs1907635581,2
    --133874186(+) ATCTCA/TGAATA 1 -- us2k10--------
    rs1819610241,2
    --133874249(+) ATTTCA/GATCCA 1 -- us2k10--------
    rs1862963401,2
    --133874351(+) TTATGC/TTAGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM257 (144908928 - 144911374 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TMEM257: --

    Locus Specific Mutation Databases (LSDB): TMEM257
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300565    OMIM disorders: --

    2 diseases for TMEM257:    About MalaCards
    mental retardation    


    TMEM257 for disorders           About GeneDecksing


    Export disorders for TMEM257 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 TMEM257 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMEM257)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of CXorf1, a novel intronless gene in Xq27.3 expressed in human hippocampus. (PubMed id 9881668)1, 2, 3, 9 Redolfi E.... Zucchi I. (1998)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    3. 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)
    4. 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)
    5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (1997)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9142 HGNC: 2562 AceView: CXorf1 Ensembl:ENSG00000221870 euGenes: HUgn9142
    ECgene: TMEM257 H-InvDB: TMEM257

    (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 TMEM257 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 TMEM257 gene:
    Search GeneIP for patents involving TMEM257

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for TMEM257
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM257
     SwitchGear 3'UTR luciferase reporter plasmids for TMEM257
     SwitchGear Promoter luciferase reporter plasmids for TMEM257
     Search ThermoFisher Antibodies for TMEM257
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM257
     inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM257
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM257
    Customized:
     lentivirus for stable overexpression of TMEM257
     lentivirus expression plasmids for stable overexpression of TMEM257
     adenovirus for overexpression of TMEM257
     LSBio Antibodies in human, mouse, rat for TMEM257
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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