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TMEM246 Gene

protein-coding   GIFtS: 39
GCID: GC09M104236

Transmembrane Protein 246

(Previous name: chromosome 9 open reading frame 125)
(Previous symbol: C9orf125)
  Search for TMEM246
at
MalaCards
 

Aliases
for TMEM246 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 2461 2
C9orf1251 2 3
Chromosome 9 Open Reading Frame 1251
Transmembrane Protein C9orf1252

External Ids:    HGNC: 281801   Entrez Gene: 843022   Ensembl: ENSG000001651527   UniProtKB: Q9BRR33   

Export aliases for TMEM246 gene to outside databases


Summaries
for TMEM246 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM246 Gene:
TMEM246 (transmembrane protein 246) is a protein-coding gene.


Genomic Views
for TMEM246 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TMEM246
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TMEM246

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM246


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

Entrez Gene cytogenetic band: 9q31.1   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q31.1

TMEM246 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM246 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M104236:  view genomic region     (about GC identifiers)

Start:
 104,235,453 bp from pter      End:
 104,295,819 bp from pter
Size:
 60,367 bases      Orientation:
 minus strand

Proteins
for TMEM246 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TM246_HUMAN, Q9BRR3 (See protein sequence)
Recommended Name: Transmembrane protein 246  
Size: 403 amino acids; 46588 Da
Secondary accessions: Q49AQ4

Explore the universe of human proteins at neXtProt for TMEM246: NX_Q9BRR3

Explore proteomics data for TMEM246 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See TMEM246 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115718.1  
    ENSEMBL proteins: 
     ENSP00000363980   ENSP00000363981   ENSP00000363984  

    TMEM246 Human Recombinant Protein Products:

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    Domains /
    Families
    for TMEM246 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q9BRR3

    UniProtKB/Swiss-Prot: TM246_HUMAN, Q9BRR3
    Similarity: Belongs to the TMEM246 family


    Function
    for TMEM246 gene

    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM246:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM246
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    miRNA
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    hsa-mir-215-5p (MIRT024663), hsa-mir-192-5p (MIRT026402)

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    Inhib. RNA
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    In Situ Assay
    Products:       
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    Localization
    for TMEM246 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TM246_HUMAN, Q9BRR3: Membrane; Multi-pass membrane protein (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    TMEM246 for ontologies           About GeneDecksing


    Pathways & Interactions
    for TMEM246 gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM246
    Interactions:

        Search GeneGlobe Interaction Network for TMEM246

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TMEM246 (ENSP000003639804) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    About this table

    Drugs & Compounds
    for TMEM246 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM246 (TM246)



    Transcripts
    for TMEM246 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TMEM246 gene: 
    NM_032342.1  

    Unigene Cluster for TMEM246:

    Transmembrane protein 246
    Hs.655738  [show with all ESTs]
    Unigene Representative Sequence: BC001209
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374847 ENST00000374848(uc004bbm.3) ENST00000374851 ENST00000482920

    miRNA
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    Inhib. RNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat TMEM246

    Additional mRNA sequence: 

    AK313981.1 BC001209.1 BC006115.1 BC033550.1 BC113967.1 

    4 DOTS entries:

    DT.97869902  DT.100775738  DT.100047586  DT.100705634 

    Selected AceView cDNA sequences (see all 99):

    BC033550 AA324731 BI838369 BU733116 CR605218 NM_032342 BM694245 F12489 
    F10108 CK906095 BC006115 CA390911 CR613609 BM127453 BM126838 AL542387 
    AL530163 AW136225 BX333237 AL522885 AJ707379 W37955 BQ438791 AL521069 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM246    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:              -               


    ECgene alternative splicing isoforms for TMEM246

    Expression
    for TMEM246 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM246 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGATAGATT
    TMEM246 Expression
    About this image


    TMEM246 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
    TMEM246 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    TMEM246 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655738
        Custom PCR Arrays for TMEM246
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM246

    Orthologs
    for TMEM246 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TMEM246 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tmem2461 , 5 RIKEN cDNA 2810432L12 gene5
    transmembrane protein 2461    		 88.17(n)1
    98.26(a)1    		   4 (26.63 cM)5
    670631  NM_025944.31  NP_080220.21 
     495845065 
    chicken
    (Gallus gallus)    		 Aves C9ORF1251 chromosome Z open reading frame, human C9orf125 67.54(n)
    65.79(a)    		   427309  XM_004949499.1  XP_004949556.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TMEM2466
    		 transmembrane protein 246
    		 57(a)
    		 1 ↔ 1
    		 2(58819315-58820529)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BJ091892.12   -- 72.26(n)    BJ091892.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tmem2461 transmembrane protein 246 48.93(n)
    43.85(a)    		   768199  NM_001077341.1  NP_001070809.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea F35C11.46
    		 Protein F35C11.4 (F35C11.4) mRNA, complete cds
    		 27(a)
    		 1 ↔ 1
    		 II(8249920-8251981) WBGene00009403


    ENSEMBL Gene Tree for TMEM246 (if available)
    TreeFam Gene Tree for TMEM246 (if available)

    Paralogs
    for TMEM246 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM246 gene
    1 SIMAP similar gene for TMEM246 using alignment to 1 protein entry:     TM246_HUMAN:
    C9orf125

    TMEM246 for paralogs           About GeneDecksing



    Genomic Variants
    for TMEM246 gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TMEM246 (see all 310)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1866007901,2
    		--104237212(+) ACGTCA/GTTAGG 1 -- int10--------
    rs78576681,2
    		C,A--104237269(+) CCATGC/ATTTTT 1 -- int15Minor allele frequency- A:0.11NA CSA 9
    rs607715961,2
    		C--104237270(+) TTTTCT/-TATAA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1894426161,2
    		C--104237382(+) CTCCCC/TTATAT 1 -- int10--------
    rs727433701,2
    		C,F--104237431(+) GTAGTA/TCAGAA 1 -- int15Minor allele frequency- T:0.15NA WA EA 362
    rs1129264781,2
    		F--104237560(+) CAGATC/ATATAG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1860209731,2
    		--104237724(+) TACATA/CCATTT 1 -- ut310--------
    rs37397261,2
    		C,F,H--104237770(+) TCTCAC/TCTTTC 1 -- ut31 ese35Minor allele frequency- T:0.01EA NS 1916
    rs1395761021,2
    		--104237804(+) TAAAAC/TAGTCA 1 -- ut310--------
    rs1141768441,2
    		C,F--104237949(+) GTGGAG/AGGAGA 1 -- ut311Minor allele frequency- A:0.06WA 118

    HapMap Linkage Disequilibrium report for TMEM246 (104235453 - 104295819 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TMEM246: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM246
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM246

    Disorders / Diseases
    for TMEM246 gene

    (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.)
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    Publications
    for TMEM246 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)
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    PubMed articles for TMEM246 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM246)    		    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. (Nature 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    External Searches for TMEM246 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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 TMEM246 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84302 HGNC: 28180 AceView: C9orf125 Ensembl:ENSG00000165152 euGenes: HUgn84302
    ECgene: TMEM246 H-InvDB: TMEM246

    Other Databases showing TMEM246 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing TMEM246 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TMEM246 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TMEM246 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for TMEM246 gene:
    Search GeneIP for patents involving TMEM246

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



    Products
    for TMEM246 gene

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Block miRNA regulation of human, mouse, rat TMEM246 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TMEM246
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     Custom PCR Arrays for TMEM246 Search Chromatin IP Primers for TMEM246
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     Search Tocris compounds for TMEM246 (TM246)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM246
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