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

TMEM106C Gene

protein-coding   GIFtS: 46
GCID: GC12P048357

Transmembrane Protein 106C

  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 106C1 2
Endoplasmic Reticulum Membrane Protein Overexpressed In Cancer2 3
EMOC3

External Ids:    HGNC: 287751   Entrez Gene: 790222   Ensembl: ENSG000001342917   UniProtKB: Q9BVX23   

Export aliases for TMEM106C gene to outside databases

Previous GC identifers: GC12P046645 GC12P045389


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

GeneCards Summary for TMEM106C Gene: 
TMEM106C (transmembrane protein 106C) is a protein-coding gene. Diseases associated with TMEM106C include distal arthrogryposis. GO annotations related to this gene include molecular_function. An important paralog of this gene is TMEM106A.


(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_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM106C gene promoter:
         Tal-1   NF-YA   E47   NF-YB   AREB6   CBF-B   CBF-A   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM106C promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM106C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM106C


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

Entrez Gene cytogenetic band: 12q13.1   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.1

TMEM106C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM106C gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048357:  view genomic region     (about GC identifiers)

Start:
48,357,330 bp from pter      End:
48,362,661 bp from pter
Size:
5,332 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: T106C_HUMAN, Q9BVX2 (See protein sequence)
Recommended Name: Transmembrane protein 106C  
Size: 250 amino acids; 27875 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B2R998 B7Z5M4 Q3B761
Alternative splicing: 2 isoforms:  Q9BVX2-1   Q9BVX2-2   

Explore the universe of human proteins at neXtProt for TMEM106C: NX_Q9BVX2

Explore proteomics data for TMEM106C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BVX2

  • TMEM106C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM106C Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001137313.1  NP_001137314.1  NP_001137315.1  NP_076961.1  

    ENSEMBL proteins: 
     ENSP00000447622   ENSP00000256686   ENSP00000447524   ENSP00000446657   ENSP00000446622  
     ENSP00000448268   ENSP00000449737   ENSP00000400471   ENSP00000402705   ENSP00000447254  
     ENSP00000449181   ENSP00000449141   ENSP00000448959   ENSP00000447830  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM106C 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    TMEM106C 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
    1 InterPro protein domain:
     IPR009790 DUF1356_TMEM106

    Graphical View of Domain Structure for InterPro Entry Q9BVX2

    ProtoNet protein and cluster: Q9BVX2

    UniProtKB/Swiss-Prot: T106C_HUMAN, Q9BVX2
    Similarity: Belongs to the TMEM106 family


    TMEM106C 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,
    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--
         
    TMEM106C for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TMEM106C:
     Increased S DNA content  Small cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM106C 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM106C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM106C 
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    hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidTMEM106C 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of TMEM106C 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM106C


    (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 TMEM106C

    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--

    TMEM106C 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMEM106C (T106C)

    Search CenterWatch for drugs/clinical trials and news about TMEM106C / T106C

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMEM106C gene (6 alternative transcripts): 
    NM_001143844.1  NM_001143845.1  NM_001143841.1  NM_001143842.1  NM_001143843.1  NM_024056.3  

    Unigene Cluster for TMEM106C:

    Transmembrane protein 106C
    Hs.596726  [show with all ESTs]
    Unigene Representative Sequence: NM_001143842
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000550146 ENST00000551305 ENST00000256686(uc001rqo.3) ENST00000548153
    ENST00000549288 ENST00000552187 ENST00000552561 ENST00000546749 ENST00000552546
    ENST00000550552 ENST00000429772(uc001rqp.3 uc001rqr.3 uc001rqq.3)
    ENST00000550161 ENST00000449758 ENST00000551705 ENST00000548640 ENST00000553217
    ENST00000548355 ENST00000548965
    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM106C:
    hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidTMEM106C 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TMEM106C
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM106C
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                         Customized lentivirus expression plasmids for stable overexpression of TMEM106C 
    Primer
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    OriGene qPCR primer pairs and template standards for TMEM106C
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM106C
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    Additional mRNA sequence: 

    AK299154.1 AK310035.1 AK313698.1 BC000854.2 BC107792.1 DQ020163.1 

    21 DOTS entries:

    DT.118554  DT.40120467  DT.100828478  DT.100828485  DT.100828474  DT.121177854  DT.121177863  DT.121177866 
    DT.100828477  DT.91880695  DT.95364636  DT.439524  DT.99978401  DT.97854233  DT.100828473  DT.100828481 
    DT.40210498  DT.95364646  DT.97854229  DT.97854232  DT.121177888 

    24/486 AceView cDNA sequences (see all 486):

    CB159548 AL558388 CR591128 CR620854 CR618360 BQ227924 BM474965 BU731001 
    CD722180 BI222897 BM913627 BM457798 BQ676885 AI720884 CB142524 BQ053586 
    CR593375 AI498785 AA626503 AA973502 CB111649 AA860666 BM694600 NM_024056 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM106C (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ·
    SP1:                          -     -     -                       -           -     -     -                       -     -           -                           
    SP2:                          -     -     -                       -           -     -     -                             -           -                           
    SP3:                                -     -                       -           -     -     -                       -     -           -                           
    SP4:                                -     -                       -           -     -     -                             -           -                           
    SP5:                          -     -     -                       -           -     -     -     -     -           -     -           -                           

    ExUns: 10d · 10e · 10f · 10g · 10h · 10i · 10j
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for TMEM106C

    (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

    TMEM106C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGGGGAT
    TMEM106C Expression
    About this image


    See TMEM106C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM106C

    SOURCE GeneReport for Unigene cluster: Hs.596726
        SABiosciences Custom PCR Arrays for TMEM106C
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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 chordates.

    Orthologs for TMEM106C gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem106c1 , 5 transmembrane protein 106C1, 5 82.05(n)1
    79.76(a)1
      15 (53.96 cM)5
    3809671  NM_001252153.11  NP_001239082.11 
     979642295 
    chicken
    (Gallus gallus)
    Aves TMEM106C1 transmembrane protein 106C 71.58(n)
    74.59(a)
      426186  XM_423850.3  XP_423850.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM106C6
    Uncharacterized protein
    62(a)
    1 ↔ 1
    2(66446324-66464010)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC535712 hypothetical protein MGC53571 73.12(n)    BC045273.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1533511 zgc:153351 63.06(n)
    58.01(a)
      768153  NM_001077296.1  NP_001070764.1 


    ENSEMBL Gene Tree for TMEM106C (if available)
    TreeFam Gene Tree for TMEM106C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM106C gene
    TMEM106A2  TMEM106B2  
    2 SIMAP similar genes for TMEM106C using alignment to 10 protein entries:     T106C_HUMAN (see all proteins):
    TMEM106A    TMEM106B

    TMEM106C for paralogs           About GeneDecksing



    (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

    10/197 SNPs in TMEM106C are shown (see all 197)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs740887091,2
    C,F--48355351(+) AGAGGG/CGAAGT 4 -- us2k12Minor allele frequency- C:0.11WA 120
    rs128226081,2
    C,F,H--48355352(+) GAGGGG/AAAGTA 4 -- us2k1 trp39Minor allele frequency- A:0.20NS EA NA 666
    rs1913082391,2
    --48355383(+) ACTAAA/GGACTC 4 -- us2k10--------
    rs1116663811,2
    C--48355479(+) ACAGAG/-GTGGC 4 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1406150921,2
    --48355856(+) GTAATC/GCCAGC 4 -- us2k10--------
    rs1444738561,2
    C--48355878(+) CTGAGA/GCAGGA 4 -- us2k10--------
    rs1478482201,2
    --48355888(+) AGAATC/TGCTTG 4 -- us2k10--------
    rs1467870931,2
    C--48355928(+) GAGAC-/TGTGCCA 4 -- us2k10--------
    rs123014471,2
    C,F--48355969(+) actccT/Atctca 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1999836941,2
    --48356056(+) TGGGG-/AAGGGG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM106C (48357330 - 48362661 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TMEM106C:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832401CNV Loss17160897
    nsv899061CNV Loss21882294
    nsv519174CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM106C
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM106C

    (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
    2 diseases for TMEM106C:    About MalaCards
    distal arthrogryposis    

    1 disease from the University of Copenhagen DISEASES database for TMEM106C:
    Distal arthrogryposis

    TMEM106C for disorders           About GeneDecksing


    Export disorders for TMEM106C 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 TMEM106C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMEM106C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    7. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    8. 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)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79022 HGNC: 28775 AceView: MGC5576 Ensembl:ENSG00000134291 euGenes: HUgn79022
    ECgene: TMEM106C H-InvDB: TMEM106C

    (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 TMEM106C 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 TMEM106C gene:
    Search GeneIP for patents involving TMEM106C

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



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