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

TMEM252 Gene

protein-coding   GIFtS: 33
GCID: GC09M071152

transmembrane protein 252

(Previous name: chromosome 9 open reading frame 71 )
(Previous symbol: C9orf71)
  Search for TMEM252
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TMEM252    

Aliases
for TMEM252 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transmembrane Protein 2521 2
C9orf711 2 3
MGC347601
Chromosome 9 Open Reading Frame 711
RP11-274B18.12
Transmembrane Protein C9orf712

External Ids:    HGNC: 285371   Entrez Gene: 1696932   Ensembl: ENSG000001817787   UniProtKB: Q8N6L73   

Export aliases for TMEM252 gene to outside databases


Summaries
for TMEM252 gene

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

Genomic Views
for TMEM252 gene

(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMEM252
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM252


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

Entrez Gene cytogenetic band: 9q21.11   Ensembl cytogenetic band:  9q21.11   HGNC cytogenetic band: 9q21.13

TMEM252 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM252 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M071152:  view genomic region     (about GC identifiers)

Start:
 71,151,496 bp from pter      End:
 71,155,783 bp from pter
Size:
 4,288 bases      Orientation:
 minus strand

Proteins
for TMEM252 gene

(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: TM252_HUMAN, Q8N6L7 (See protein sequence)
Recommended Name: Transmembrane protein 252  
Size: 170 amino acids; 18703 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for TMEM252: NX_Q8N6L7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N6L7

    • TMEM252 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_694969.1  
    ENSEMBL proteins: 
     ENSP00000366528  

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    Uscn Proteins for TMEM252

    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--


    TMEM252 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for TMEM252 gene

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

    ProtoNet protein and cluster: Q8N6L7


    Function
    for TMEM252 gene

    (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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    Pathways & Interactions
    for TMEM252 gene

    (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 TMEM252

    Drugs & Compounds
    for TMEM252 gene

    (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
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    Browse Tocris compounds for TMEM252
    Search CenterWatch for drugs/clinical trials and news about TMEM252 / TM252 

    Transcripts
    for TMEM252 gene

    (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,
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    About This Section
    REFSEQ mRNAs for TMEM252 gene: 
    NM_153237.1  

    Unigene Cluster for TMEM252:

    Transmembrane protein 252
    Hs.663056  [show with all ESTs]
    Unigene Representative Sequence: AK126504
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000377311(uc004agt.3)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AK126504.1 AK130904.1 BC029780.1 

    2 DOTS entries:

    DT.40269472  DT.75193405 

    24/43 AceView cDNA sequences (see all 43):

    AI262931 BE465234 AI695200 AA502387 AK130904 AI522276 AI862899 AK126504 
    BC029780 AI823510 BE465795 CB216227 AW241605 BX110427 AW300424 AI269087 
    BF594701 BF197375 AI572803 BF431160 AI241165 BI765584 BI761750 AI654193 

    GeneLoc Exon Structure


    Expression
    for TMEM252 gene

    (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
    		 See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    TMEM252 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TMEM252 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM252

    SOURCE GeneReport for Unigene cluster: Hs.663056
        SABiosciences Custom PCR Arrays for TMEM252
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    In Situ
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    Orthologs
    for TMEM252 gene

    (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 chordates.

    Orthologs for TMEM252 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tmem2521 , 5 RIKEN cDNA E030010A14 gene5
    transmembrane protein 2521    		 74.44(n)1
    68.1(a)1    		   19 (19.77 cM)5
    2260401  NM_183160.31  NP_898983.11 
     246740085 
    chicken
    (Gallus gallus)    		 Aves C9orf716
    		 Uncharacterized protein
    		 39(a)
    		 1 ↔ 1
    		 Z(26389971-26391463)


    ENSEMBL Gene Tree for TMEM252 (if available)
    TreeFam Gene Tree for TMEM252 (if available) 

    Paralogs
    for TMEM252 gene

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

    Genomic Variants
    for TMEM252 gene

    (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
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for TMEM252 gene

    (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
    		   --

    Publications
    for TMEM252 gene

    (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 TMEM252 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMEM252)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)

    External Searches for TMEM252 gene

    (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)

    Genome Databases showing TMEM252 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 169693 HGNC: 28537 AceView: C9orf71 Ensembl:ENSG00000181778 euGenes: HUgn169693
    ECgene: TMEM252 H-InvDB: TMEM252

    Other Databases showing TMEM252 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TMEM252 gene

    (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 TMEM252 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TMEM252 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TMEM252 gene:
    Search GeneIP for patents involving TMEM252

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



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    About This Section

     
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