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TMEM66 Gene

protein-coding   GIFtS: 53
GCID: GC08M029920

Transmembrane Protein 66

  See related diseases
at  

(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 661 2 3     FOAP-72
SARAF2 3 5     SARAF Long Isoform2
XTP32 3     SARAF Short Isoform2
HBV X-Transactivated Gene 3 Protein2 3     Store-Operated Calcium Entry-Associated Regulatory Factor2
HBV XAg-Transactivated Protein 32 3     Protein FOAP-73
SOCE-Associated Regulatory Factor2 3     

External Ids:    HGNC: 287891   Entrez Gene: 516692   Ensembl: ENSG000001338727   OMIM: 6147685   UniProtKB: Q96BY93   

Export aliases for TMEM66 gene to outside databases

Previous GC identifers: GC08M030042 GC08M028465


(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 TMEM66 Gene:
TMEM66 (transmembrane protein 66) is a protein-coding gene. Diseases associated with TMEM66 include cystic fibrosis, and endotheliitis. GO annotations related to this gene include store-operated calcium channel activity.

UniProtKB/Swiss-Prot: SARAF_HUMAN, Q96BY9
Function: Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+)
overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a
slow inactivation of STIM (STIM1 or STIM2)-dependent SOCE activity: possibly act by facilitating the
deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the
appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions

Gene Wiki entry for TMEM66 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_000008.11  NC_018919.2  NT_167187.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM66 gene promoter:
         MEF-2A   CREB   Pax-5   MEF-2   deltaCREB   aMEF-2   XBP-1   CUTL1   Cdc5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM66 promoter sequence
   Search Chromatin IP Primers for TMEM66

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM66


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

Entrez Gene cytogenetic band: 8p12   Ensembl cytogenetic band:  8p12   HGNC cytogenetic band: 8p12

TMEM66 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM66 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M029920:  view genomic region     (about GC identifiers)

Start:
29,920,528 bp from pter      End:
29,940,723 bp from pter
Size:
20,196 bases      Orientation:
minus strand

(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: SARAF_HUMAN, Q96BY9 (See protein sequence)
Recommended Name: Store-operated calcium entry-associated regulatory factor precursor  
Size: 339 amino acids; 36975 Da
Subunit: Interacts with STIM1
Sequence caution: Sequence=AAD44487.1; Type=Frameshift; Positions=28;
Secondary accessions: B3KQQ4 B7Z9J1 D3DSU7 H9MHJ8 H9MHJ9 Q53HE8 Q9UNZ3 Q9Y683
Alternative splicing: 2 isoforms:  Q96BY9-1   Q96BY9-2   

Explore the universe of human proteins at neXtProt for TMEM66: NX_Q96BY9

Explore proteomics data for TMEM66 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys43, Lys65, Lys79, Lys86, Lys106, Lys109, Lys145, Lys326
  • Modification sites at PhosphoSitePlus

  • See TMEM66 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001271168.1  NP_057211.4  

    ENSEMBL proteins: 
     ENSP00000256255   ENSP00000431005   ENSP00000429538   ENSP00000428963   ENSP00000428323  
     ENSP00000430477   ENSP00000427769   ENSP00000429630   ENSP00000428245   ENSP00000428832  
     ENSP00000441351   ENSP00000441723  

    TMEM66 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for TMEM66
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TMEM66
    GenScript Custom Purified and Recombinant Proteins Services for TMEM66
    Novus Biologicals TMEM66 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM66

    TMEM66 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for TMEM66
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    ThermoFisher Antibody for TMEM66
    LSBio Antibodies in human, mouse, rat for TMEM66

    TMEM66 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TMEM66
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    Cloud-Clone Corp. ELISAs for TMEM66
    Cloud-Clone Corp. CLIAs for TMEM66


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009567 DUF1183_TMEM66

    Graphical View of Domain Structure for InterPro Entry Q96BY9

    ProtoNet protein and cluster: Q96BY9

    UniProtKB/Swiss-Prot: SARAF_HUMAN, Q96BY9
    Domain: The cytoplasmic C-terminal region mediates interaction with STIM1, while the N-terminal lumenal region
    mediates regulation of SOCE activity (PubMed:22464749)
    Similarity: Belongs to the SARAF family


    TMEM66 for domains           About GeneDecksing


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SARAF_HUMAN, Q96BY9
    Function: Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+)
    overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a
    slow inactivation of STIM (STIM1 or STIM2)-dependent SOCE activity: possibly act by facilitating the
    deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the
    appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0015279store-operated calcium channel activity IDA--
         
    TMEM66 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for TMEM66:
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content  Increased cell size 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM66
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM66

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM66
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMEM66

    miRNA
    Products:
        
    miRTarBase miRNAs that target TMEM66:
    hsa-mir-92a-3p (MIRT049713), hsa-mir-215-5p (MIRT024777), hsa-mir-148b-3p (MIRT043595), hsa-mir-20a-5p (MIRT050562), hsa-mir-192-5p (MIRT026643), hsa-mir-615-3p (MIRT040141)

    Block miRNA regulation of human, mouse, rat TMEM66 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM66 (see all 10):
    hsa-miR-498 hsa-miR-3671 hsa-miR-3140-3p hsa-miR-4311 hsa-miR-3120-3p hsa-miR-545 hsa-miR-33a* hsa-miR-199a-5p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM66 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TMEM66
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM66

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for TMEM66 (see all 7)
    OriGene ORF clones in mouse, rat for TMEM66
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TMEM66 (NM_016127)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM66
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM66

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM66 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM66


    (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
    SARAF_HUMAN, Q96BY9: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Translocates to
    the endoplasmic reticulum-plasma membrane (ER-PM) region in a STIM1-dependent manner following cytosolic Ca(2+)
    elevation
    SARAF_HUMAN, Q96BY9: Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    extracellular2
    lysosome2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030176integral component of endoplasmic reticulum membrane IDA--

    TMEM66 for ontologies           About GeneDecksing


    (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 TMEM66: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TMEM66

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for TMEM66 (Q96BY92, 3 ENSP000002562554) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFIT5Q133252, 3, ENSP000003608604MINT-64350 I2D: score=4 STRING: ENSP00000360860
    SAT1P216732, 3MINT-63570 I2D: score=5 
    SNX15Q9NRS62, 3MINT-64352 I2D: score=4 
    ABCD4O146783, ENSP000003493964I2D: score=3 STRING: ENSP00000349396
    RIBC2Q9H4K13I2D: score=3 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070588calcium ion transmembrane transport IDA--
    GO:2001256regulation of store-operated calcium entry IDA--

    TMEM66 for ontologies           About GeneDecksing



    (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 TMEM66 (SARAF)



    (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 TMEM66 gene (2 alternative transcripts): 
    NM_001284239.1  NM_016127.5  

    Unigene Cluster for TMEM66:

    Transmembrane protein 66
    Hs.521487  [show with all ESTs]
    Unigene Representative Sequence: AK025927
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256255(uc003xhs.3 uc003xhv.3) ENST00000518174 ENST00000521265
    ENST00000520303 ENST00000523127 ENST00000518340 ENST00000518296 ENST00000521934
    ENST00000522794 ENST00000522055 ENST00000523761 ENST00000517569 ENST00000521083
    ENST00000545648 ENST00000536273
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TMEM66 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM66 (see all 10):
    hsa-miR-498 hsa-miR-3671 hsa-miR-3140-3p hsa-miR-4311 hsa-miR-3120-3p hsa-miR-545 hsa-miR-33a* hsa-miR-199a-5p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM66 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TMEM66
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM66
    Clone
    Products:
         
    OriGene clones in human, mouse for TMEM66 (see all 7)
    OriGene ORF clones in mouse, rat for TMEM66
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TMEM66 (NM_016127)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM66
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM66
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM66
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM66
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM66
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM66
      QuantiFast Probe-based Assays in human, mouse, rat TMEM66

    Additional mRNA sequence: 

    AB028926.1 AF078855.1 AF100748.1 AF490252.1 AK025927.1 AK075340.1 AK094386.1 AK130057.1 
    AK222632.1 AK295360.1 AK314659.1 AK315956.1 AY359104.1 AY454545.1 BC015012.1 JQ348891.1 
    JQ348892.1 Z70223.1 

    Selected DOTS entries (see all 37):

    DT.91707800  DT.40116121  DT.95378756  DT.100886075  DT.92048406  DT.100886122  DT.100886086  DT.100806108 
    DT.100886108  DT.100886121  DT.120650297  DT.95377732  DT.100886125  DT.91707610  DT.92467052  DT.100684282 
    DT.100886115  DT.92467050  DT.100886093  DT.95290572  DT.100886080  DT.65284525  DT.100681610  DT.120532 

    Selected AceView cDNA sequences (see all 1079):

    CK430519 CR607306 CR608346 CR613264 BF434330 AA393945 AA580895 AI624867 
    CR594774 BX424571 AA151598 AA782297 CD105651 T07081 BU787562 CR612155 
    AW073795 BG403035 AA351106 CR604656 AA296849 BE327815 CR603460 CD108546 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TMEM66 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ·
    SP1:                                            -     -                                                     -                       -     -                     
    SP2:                                            -     -                       -                             -                       -     -                     
    SP3:                                            -     -     -     -     -     -                             -                       -     -                     
    SP4:                                            -                                                                                                               
    SP5:                                            -     -                                                     -                                                   

    ExUns: 9d · 9e
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for TMEM66

    (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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    TMEM66 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTTCTCTG
    TMEM66 Expression
    About this image

    TMEM66 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM66 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521487

    UniProtKB/Swiss-Prot: SARAF_HUMAN, Q96BY9
    Tissue specificity: Highly expressed in macrophages

        Pathway & Disease-focused RT2 Profiler PCR Array including TMEM66: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TMEM66
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM66
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM66
    QuantiTect SYBR Green Assays in human, mouse, rat TMEM66
    QuantiFast Probe-based Assays in human, mouse, rat TMEM66
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM66

    (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 TMEM66 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem661 , 5 transmembrane protein 661, 5 82.09(n)1
    83.5(a)1
      8 (20.90 cM)5
    678871  NM_026432.31  NP_080708.31 
     341545635 
    chicken
    (Gallus gallus)
    Aves TMEM666
    Gallus gallus transmembrane protein 66 (TMEM66), m...
    39(a)
    1 ↔ 1
    4(48646935-48654556)
    lizard
    (Anolis carolinensis)
    Reptilia TMEM666
    transmembrane protein 66
    50(a)
    1 ↔ 1
    GL343257.1(1762877-1776962)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.21192 Xenopus laevis transcribed sequences 79.23(n)    BG347782.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmem666
    transmembrane protein 66
    40(a)
    1 ↔ 1
    1(11231665-11240875) ENSDARG00000070452
    worm
    (Caenorhabditis elegans)
    Secernentea T06D8.91 T06D8.9 48.85(n)
    44.66(a)
      174716  NM_064005.4  NP_496406.2 


    ENSEMBL Gene Tree for TMEM66 (if available)
    TreeFam Gene Tree for TMEM66 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM66 gene

    TMEM66 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TMEM66
    PGOHUM00000256697


    (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 TMEM66 (see all 482)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs360965511,2
    C--29926651(+) TTTTTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs113329201,2
    C--29932817(+) ATCTCA/-AAAAA 1 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs113302121,2
    C--29933507(+) AAAAAA/CAAAAA 1 -- int13Minor allele frequency- C:0.00NA WA 6
    rs1454089761,2
    C--29933507(+) AAAAA-/CAAAAA 1 -- int10--------
    rs712042591,2
    C--29935697(-) TTTTT-/TCCTCC 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1138520871,2
    C--29939248(+) TTTCA-/T/TTT 
            
    TTTTT
    2 -- int1 cds11CSA 2
    rs558982261,2
    C--29939854(+) GACTC-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA CSA 4
    rs1175315441,2
    F--30158301(+) AAAGAG/TGATAG 1 -- ds50011Minor allele frequency- T:0.02EA 120
    rs561356271,2
    C,F--30158351(+) TTGGTT/CCTTAT 1 -- ds50011Minor allele frequency- C:0.03NA 120
    rs1902892121,2
    --30158378(+) ACTGCA/CGTTTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TMEM66 (29920528 - 29940723 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TMEM66:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2736824CNV Deletion23290073
    esv2736826CNV Deletion23290073
    esv2736825CNV Deletion23290073
    esv2656771CNV Deletion23128226
    nsv831277CNV Gain17160897

    Site Specific Mutation Identification with 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

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    OMIM gene information: 614768    OMIM disorders: --

    2 diseases for TMEM66:    
    About MalaCards
    cystic fibrosis    endotheliitis


    TMEM66 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMEM66
    Human Genome Epidemiology (HuGE) Navigator: TMEM66 (1 document)

    Export disorders for TMEM66 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

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    PubMed articles for TMEM66 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with TMEM66)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    2. SARAF inactivates the store operated calcium entry machinery to prevent excess calcium refilling. (PubMed id 22464749)1, 2 Palty R.... Reuveny E. (Cell 2012)
    3. 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)
    4. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Derlin2 protein facilitates HRD1-mediated retro-translocation of sonic hedgehog at the endoplasmic reticulum. (PubMed id 23867461)1 Huang C.H....Chen X. (J. Biol. Chem. 2013)
    10. The STIM1 CTID domain determines access of SARAF to SOAR to regulate Orai1 channel function. (PubMed id 23816623)1 Jha A....Muallem S. (J. Cell Biol. 2013)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 51669 HGNC: 28789 AceView: MGC8721 Ensembl:ENSG00000133872 euGenes: HUgn51669
    ECgene: TMEM66 H-InvDB: TMEM66

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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 TMEM66 Pharmacogenomics, SNPs, Pathways

    (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 TMEM66 gene:
    Search GeneIP for patents involving TMEM66

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



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