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TMEM2 Gene

protein-coding   GIFtS: 53
GCID: GC09M074298

Transmembrane Protein 2

  See TMEM2-related disease
at
MalaCards
 

Aliases
for TMEM2 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 21 2
KIAA14123

External Ids:    HGNC: 118691   Entrez Gene: 236702   Ensembl: ENSG000001350487   OMIM: 6058355   UniProtKB: Q9UHN63   

Export aliases for TMEM2 gene to outside databases

Previous GC identifers: GC09M065342 GC09M066154 GC09M067868 GC09M069755 GC09M071527 GC09M073488 GC09M073371 GC09M044121


Summaries
for TMEM2 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 TMEM2 Gene:
TMEM2 (transmembrane protein 2) is a protein-coding gene. Diseases associated with TMEM2 include benign familial infantile epilepsy. An important paralog of this gene is PKHD1L1.

UniProtKB/Swiss-Prot: TMEM2_HUMAN, Q9UHN6
Function: May be required for the heart morphogenesis (By similarity)




Genomic Views
for TMEM2 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 at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM2 gene promoter:
         TBP   LHX3b/Lhx3b   GATA-3   GATA-2   GATA-1   AREB6   S8   LHX3a/Lhx3a   Sox9   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM2 promoter sequence
   Search Chromatin IP Primers for TMEM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM2


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

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

TMEM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M074298:  view genomic region     (about GC identifiers)

Start:
 74,298,282 bp from pter      End:
 74,431,606 bp from pter
Size:
 133,325 bases      Orientation:
 minus strand

Proteins
for TMEM2 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TMEM2_HUMAN, Q9UHN6 (See protein sequence)
Recommended Name: Transmembrane protein 2  
Size: 1383 amino acids; 154374 Da
Sequence caution: Sequence=BAA92650.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAC11574.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI15172.1;
Type=Erroneous gene model prediction; Sequence=CAI15173.1; Type=Erroneous gene model prediction;
Sequence=CAI15174.1; Type=Erroneous gene model prediction; Sequence=CAI15175.1; Type=Erroneous gene model
prediction;
Secondary accessions: A6H8W9 B2RTQ6 Q5T838 Q5T839 Q5T840 Q5T841 Q8NBP6 Q9P2D5
Alternative splicing: 2 isoforms:  Q9UHN6-1   Q9UHN6-2   

Explore the universe of human proteins at neXtProt for TMEM2: NX_Q9UHN6

Explore proteomics data for TMEM2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn292, Asn914, Asn980, Asn1234
  • Modification sites at PhosphoSitePlus

    • See TMEM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129292.1  NP_037522.1  

    ENSEMBL proteins: 
     ENSP00000366243   ENSP00000366266   ENSP00000437750   ENSP00000379569   ENSP00000366254  
     ENSP00000366242   ENSP00000444571  

    TMEM2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TMEM2
    GenScript Custom Purified and Recombinant Proteins Services for TMEM2
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM2

         		 Search eBioscience for Proteins for TMEM2 

         		 Search antibodies-online for proteins for TMEM2 

         		antibodies-online peptides for TMEM2

    TMEM2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TMEM2
    Novus Biologicals TMEM2 Antibodies
    Abcam antibodies for TMEM2
    Cloud-Clone Corp. Antibodies for TMEM2
    Search ThermoFisher Antibodies for TMEM2
    antibodies-online antibodies for TMEM2 (9 products) 

    TMEM2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TMEM2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TMEM2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TMEM2
    Cloud-Clone Corp. CLIAs for TMEM2
    Search eBioscience for ELISAs for TMEM2 
    antibodies-online kits for TMEM2 (4 products) 

    Domains /
    Families
    for TMEM2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    TryGeneCards Plus    		 2 InterPro protein domains:
     IPR011050 Pectin_lyase_fold/virulence
     IPR019316 G8_domain

    Graphical View of Domain Structure for InterPro Entry Q9UHN6

    ProtoNet protein and cluster: Q9UHN6

    UniProtKB/Swiss-Prot: TMEM2_HUMAN, Q9UHN6
    Similarity: Belongs to the TMEM2 family
    Similarity: Contains 1 G8 domain
    Similarity: Contains 3 PbH1 repeats


    Find genes that share domains with TMEM2           About GenesLikeMe


    Function
    for TMEM2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMEM2_HUMAN, Q9UHN6
    Function: May be required for the heart morphogenesis (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM2:

     Increased circadian period len 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TMEM2

    miRNA
    Products:            		miRTarBase miRNAs that target TMEM2:
    hsa-mir-125b-5p (MIRT046046), hsa-mir-26b-5p (MIRT029299), hsa-mir-196a-5p (MIRT026078), hsa-mir-98-5p (MIRT027580), hsa-mir-30a-3p (MIRT001762), hsa-mir-331-3p (MIRT043348), hsa-let-7b-5p (MIRT001585), hsa-mir-192-5p (MIRT026372), hsa-mir-215-5p (MIRT024372), hsa-let-7d-5p (MIRT032147), hsa-mir-21-5p (MIRT030825)

    Block miRNA regulation of human, mouse, rat TMEM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM2 (see all 59):
    hsa-let-7d hsa-miR-218-1* hsa-miR-938 hsa-let-7a-2* hsa-miR-1304 hsa-let-7g hsa-miR-208b hsa-miR-208a
    SwitchGear 3'UTR luciferase reporter plasmid: TMEM2 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for TMEM2
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TMEM2

    Clone
    Products:             		 OriGene clones in human, mouse for TMEM2 (see all 11)
    OriGene ORF clones in mouse, rat for TMEM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM2 (NM_013390)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM2

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TMEM2
    Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM2 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM2


    Localization
    for TMEM2 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
    TMEM2_HUMAN, Q9UHN6: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    plasma membrane3
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with TMEM2           About GenesLikeMe


    Pathways & Interactions
    for TMEM2 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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        Pathway & Disease-focused RT2 Profiler PCR Array including TMEM2: 
              Hepatotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TMEM2

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

    2 Interacting proteins for TMEM2 (Q9UHN63 ENSP000003662664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166593I2D: score=2 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--

    Find genes that share ontologies with TMEM2           About GenesLikeMe



    Drugs & Compounds
    for TMEM2 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 TMEM2



    Transcripts
    for TMEM2 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TMEM2 gene (2 alternative transcripts): 
    NM_001135820.1  NM_013390.2  

    Unigene Cluster for TMEM2:

    Transmembrane protein 2
    Hs.494146  [show with all ESTs]
    Unigene Representative Sequence: NM_013390
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377044(uc011lrz.1 uc011lsa.1 uc010mos.2 uc011lsb.1)
    ENST00000377057(uc004aik.2) ENST00000538669 ENST00000377066 ENST00000542935
    ENST00000396272 ENST00000474495 ENST00000377055 ENST00000377043 ENST00000537329
    ENST00000546219 ENST00000543165 ENST00000545719
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat TMEM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM2 (see all 59):
    hsa-let-7d hsa-miR-218-1* hsa-miR-938 hsa-let-7a-2* hsa-miR-1304 hsa-let-7g hsa-miR-208b hsa-miR-208a
    SwitchGear 3'UTR luciferase reporter plasmid: TMEM2 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for TMEM2
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM2
    Clone
    Products:             		 OriGene clones in human, mouse for TMEM2 (see all 11)
    OriGene ORF clones in mouse, rat for TMEM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM2 (NM_013390)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM2
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for TMEM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM2
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM2
      QuantiFast Probe-based Assays in human, mouse, rat TMEM2

    Additional mRNA sequence: 

    AB037833.2 AF137030.1 AK027818.1 AK056807.1 AK075370.1 AK300405.1 AK303765.1 BC044850.1 
    BC140773.1 BC144510.1 BC146780.1 BC171782.1 

    13 DOTS entries:

    DT.100791735  DT.87017186  DT.99954500  DT.100791734  DT.95264391  DT.91740592  DT.75188529  DT.95199914 
    DT.121198652  DT.97819885  DT.99963636  DT.100791732  DT.75194011 

    Selected AceView cDNA sequences (see all 184):

    CA417845 N24834 CB129477 CA418327 CD678578 AK075370 BP364451 BM978442 
    N67011 BX476241 AI632442 AA282507 BG957014 BP336996 W38979 BU161728 
    AB037833 BM787925 AA344223 BU633767 BG956525 BM990972 AI825648 AI394177 

    GeneLoc Exon Structure


    Expression
    for TMEM2 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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    TMEM2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM2 Expression
    About this image


    TMEM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
    TMEM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    TMEM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494146

    UniProtKB/Swiss-Prot: TMEM2_HUMAN, Q9UHN6
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including TMEM2: 
              Hepatotoxicity in human mouse rat

    Primer
    Products:    		OriGene qSTAR qPCR primer pairs in human, mouse for TMEM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM2
    QuantiTect SYBR Green Assays in human, mouse, rat TMEM2
    QuantiFast Probe-based Assays in human, mouse, rat TMEM2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM2

    Orthologs
    for TMEM2 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 chordates.

    Orthologs for TMEM2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tmem21 , 5 transmembrane protein 21, 5 84.42(n)1
    86.83(a)1    		   19 (15.54 cM)5
    839211  NM_031997.41  NP_114386.31 
     217783425 
    chicken
    (Gallus gallus)    		 Aves LOC4272501 transmembrane protein 2-like 72.9(n)
    71.5(a)    		   427250  XM_004949164.1  XP_004949221.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TMEM26
    		 transmembrane protein 2
    		 73(a)
    		 1 ↔ 1
    		 2(48366509-48437676)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.237982 Xenopus laevis transcribed sequence with weak similarity more 76.44(n)    BU909223.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tmem21 transmembrane protein 2 60.17(n)
    58.61(a)    		   566851  NM_001099449.1  NP_001092919.1 


    ENSEMBL Gene Tree for TMEM2 (if available)
    TreeFam Gene Tree for TMEM2 (if available)

    Paralogs
    for TMEM2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM2 gene
    PKHD1L12  PKHD12  CEMIP2  
    1 SIMAP similar gene for TMEM2 using alignment to 6 protein entries:     TMEM2_HUMAN (see all proteins):
    KIAA1199

    Find genes that share paralogs with TMEM2           About GenesLikeMe



    Genomic Variants
    for TMEM2 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 TMEM2 (see all 2166)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs78572231,2
    		C,F,H--74297830(+) CAATAT/CTTACT 2 -- int14Minor allele frequency- C:0.01NS EA 418
    rs1133466451,2
    		C,F--74297845(+) GGATTC/TTGTCC 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1897561571,2
    		--74297897(+) CTGGAA/TTCTGG 2 -- int10--------
    rs746744411,2
    		C,F--74297902(+) ATCTGG/TAATTT 2 -- int11Minor allele frequency- T:0.08EA 120
    rs1835542511,2
    		--74297956(+) CGGTGA/GCTCAT 2 -- int10--------
    rs107810371,2
    		C,F,A,H--74298081(+) TAGCAG/ATGCAT 2 -- int13Minor allele frequency- A:0.50NA WA CSA 6
    rs1451623851,2
    		--74298222(+) CCATCG/TCAAAA 2 -- int10--------
    rs1388776391,2
    		C--74298254(+) TAAAT-/AATA  
                AATAA     		2 -- int10--------
    rs132964711,2
    		H--74298422(+) AAGATA/TTTTAA 2 -- ut314Minor allele frequency- T:0.00NS EA 416
    rs2020897281,2
    		C--74298435(+) CATAAA/CACACA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for TMEM2 (74298282 - 74431606 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TMEM2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677935CNV Deletion23128226
    nsv507516CNV Insertion20534489
    nsv416322CNV Insertion16902084
    nsv893444CNV Gain21882294
    nsv831617CNV Gain17160897

    Human Gene Mutation Database (HGMD): TMEM2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM2
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM2

    Disorders / Diseases
    for TMEM2 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

    TryGeneCards Plus    		 OMIM gene information: 605835    OMIM disorders: --

    1 disease for TMEM2:    
    About MalaCards
    benign familial infantile epilepsy

    1 inferred disease relationship from the University of Copenhagen DISEASES database for TMEM2:
    Benign familial infantile epilepsy

    Find genes that share disorders with TMEM2           About GenesLikeMe

    Genetic Association Database (GAD): TMEM2
    Human Genome Epidemiology (HuGE) Navigator: TMEM2 (1 document)

    Export disorders for TMEM2 gene to outside databases

    Publications
    for TMEM2 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

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    PubMed articles for TMEM2 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with TMEM2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    4. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. (PubMed id 10767548)1, 2 Scott D.A.... Smith R.J.H. (Gene 2000)
    5. Rare inborn errors associated with chronic hepatitis B virus infection. (PubMed id 22610944)1 Zhao Q....Wang Y. (Hepatology 2012)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    7. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)

    External Searches for TMEM2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing TMEM2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23670 HGNC: 11869 AceView: TMEM2 Ensembl:ENSG00000135048 euGenes: HUgn23670
    ECgene: TMEM2 H-InvDB: TMEM2

    Other Databases showing TMEM2 gene

    (According to HUGE)
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    HUGE: KIAA1412

    Specialized Databases showing TMEM2 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)
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    NameDescription
    PharmGKB entry for TMEM2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TMEM2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    TryGeneCards Plus    		Patent Information for TMEM2 gene:
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