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

TMTC4 Gene

protein-coding   GIFtS: 45
GCID: GC13M101256

transmembrane and tetratricopeptide repeat containing 4

 Explore 2 diseases affiliated with
TMTC4 via our new
 Human Malady Compendium 
Biological research products
for TMTC4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane And Tetratricopeptide Repeat Containing 41 2
FLJ146241
FLJ221531
Transmembrane And TPR Repeat-Containing Protein 42

External Ids:    HGNC: 259041   Entrez Gene: 848992   Ensembl: ENSG000001252477   UniProtKB: Q5T4D33   

Export aliases for TMTC4 gene to outside databases

Previous GC identifers: GC13M100055 GC13M081852


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

Gene Wiki entry for TMTC4


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_009952.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMTC4 gene promoter:
         TBP   Max1   C/EBPbeta   MIF-1   Tal-1beta   E47   ZID   ITF-2   MRF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMTC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMTC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMTC4


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

Entrez Gene cytogenetic band: 13q32.3   Ensembl cytogenetic band:  13q32.3   HGNC cytogenetic band: 13q32.3

TMTC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMTC4 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M101256:  view genomic region     (about GC identifiers)

Start:
101,256,090 bp from pter      End:
101,327,347 bp from pter
Size:
71,258 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TMTC4_HUMAN, Q5T4D3 (See protein sequence)
Recommended Name: Transmembrane and TPR repeat-containing protein 4  
Size: 741 amino acids; 82991 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAH18707.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AK056409; Type=Frameshift; Positions=268; Sequence=BAB55179.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAI11004.1; Type=Erroneous gene model prediction; Sequence=CAI11005.1; Type=Erroneous
gene model prediction; Sequence=CAI11006.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NLI7 Q5T4D4 Q5T4D5 Q5T4D6 Q8WV63 Q96SU8
Alternative splicing: 3 isoforms:  Q5T4D3-1   Q5T4D3-2   Q5T4D3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMTC4: NX_Q5T4D3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T4D3

  • TMTC4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073137.1  NP_116202.2  

    ENSEMBL proteins: 
     ENSP00000365408   ENSP00000343871   ENSP00000365409   ENSP00000393600   ENSP00000398400  
     ENSP00000419613  

    Human Recombinant Protein Products: 
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    Uscn Proteins for TMTC4

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    TMTC4 for ontologies           About GeneDecksing



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

    TMTC4 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011990 TPR-like_helical
     IPR013618 DUF1736
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q5T4D3

    ProtoNet protein and cluster: Q5T4D3

    UniProtKB/Swiss-Prot: TMTC4_HUMAN, Q5T4D3
    Similarity: Belongs to the TMTC family
    Similarity: Contains 8 TPR repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate TMTC4:
    hsa-miR-217 hsa-miR-376b hsa-miR-138 hsa-miR-590-3p hsa-miR-548q hsa-miR-3907 hsa-miR-376a
    SwitchGear 3'UTR luciferase reporter plasmidTMTC4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMTC4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMTC4

    1 Interacting protein for TMTC4 (Q5T4D33) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STRIP1Q5VSL93I2D: score=2 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMTC4
    Search CenterWatch for drugs/clinical trials and news about TMTC4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMTC4 gene (2 alternative transcripts): 
    NM_001079669.1  NM_032813.2  

    Unigene Cluster for TMTC4:

    Transmembrane and tetratricopeptide repeat containing 4
    Hs.190983  [show with all ESTs]
    Unigene Representative Sequence: AK124599
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376234(uc001vou.3 uc010tja.2) ENST00000342624(uc001vot.3)
    ENST00000328767 ENST00000489713(uc001vov.1 uc001vow.1) ENST00000462211
    ENST00000478272 ENST00000496511 ENST00000440120 ENST00000480433 ENST00000423847
    ENST00000475272

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate TMTC4:
    hsa-miR-217 hsa-miR-376b hsa-miR-138 hsa-miR-590-3p hsa-miR-548q hsa-miR-3907 hsa-miR-376a
    SwitchGear 3'UTR luciferase reporter plasmidTMTC4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMTC4 (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMTC4
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMTC4 (see all 5)
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    Additional cDNA sequence: 

    AF339792.1 AK027530.1 AK056409.1 AK092653.1 AK124599.1 AK290345.1 AK299859.1 BC018707.1 
    BX647956.1 BX648008.1 

    12 DOTS entries:

    DT.100747124  DT.97840743  DT.443707  DT.97840742  DT.422186  DT.40248952  DT.100664351  DT.97813439 
    DT.100666599  DT.101970580  DT.97823608  DT.95209919 

    24/158 AceView cDNA sequences (see all 158):

    AA425009 BM721101 CK902729 AI077471 AA910514 AI273237 BX647956 AA448713 
    AA971081 AW470048 BM669769 AA888175 BF108820 AI304474 AI089470 AI144133 
    BC018707 BX101338 AW009242 BF724110 BX114115 AL539362 AA182655 BX496014 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TMTC4 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ·
    SP1:              -                       -                                         -                                                                       -   
    SP2:              -     -                 -                                         -                                                                       -   
    SP3:                                                                                -                                                                           
    SP4:                                                                                                                                                            
    SP5:                                      -                             -           -                                                                           

    ExUns: 18d ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23
    SP1:  -                       -               
    SP2:  -                       -               
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for TMTC4

    (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

    TMTC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTAGGCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TMTC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMTC4

    SOURCE GeneReport for Unigene cluster: Hs.190983
        SABiosciences Custom PCR Arrays for TMTC4
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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 animals.

    Orthologs for TMTC4 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TMTC41 transmembrane and tetratricopeptide repeat containing more 77.6(n)
    85.09(a)
      418772  XM_416968.3  XP_416968.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMTC46
    --
    81(a)
    1 ↔ 1
    3(99685210-99744362)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX744502.12   -- 78.76(n)    BX744502.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI878438.12   -- 72.89(n)   325185  AI878438.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50381 CG5038 50.61(n)
    39.88(a)
      41867  NM_142194.2  NP_650451.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F38B6.61 Protein F38B6.6 48.49(n)
    40.65(a)
      185454  NM_076722.4  NP_509123.2 


    ENSEMBL Gene Tree for TMTC4 (if available)
    TreeFam Gene Tree for TMTC4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMTC4 gene
    TMTC32  TMTC22  OGT2  TMTC12  
    3 SIMAP similar genes for TMTC4 using alignment to 4 protein entries:     TMTC4_HUMAN (see all proteins):
    TMTC3    TMTC1    TMTC2

    TMTC4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TMTC4
    PGOHUM00000235873


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1197 NCBI SNPs in TMTC4 are shown (see all 1197    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1409338271,2
    --101255745(+) ATCCCA/TGCTAC 2 -- ds50010--------
    rs1129747121,2
    C,F,--101255774(+) AGGATC/TGCTTG 2 -- ds50012Minor allele frequency- T:0.50NA 4
    rs1884356511,2
    --101255839(+) TGGGAA/GACAGA 2 -- ds50010--------
    rs79829451,2
    A--101255851(+) caagaA/Ctccat 2 -- ds50010--------
    rs608534771,2
    C--101255860(+) ATCTC-/AAAAAAA 2 -- ds50011Minor allele frequency- AA:0.00NA 2
    rs668077771,2
    C--101255860(+) ATCTC-/AAAAAAA 2 -- ds50011Minor allele frequency- AA:0.00CSA 2
    rs95854691,2
    H,--101255945(+) TGAAAC/TACTAC 2 -- ds50014Minor allele frequency- T:0.00NS EA 416
    rs1405529441,2
    --101255965(+) CCCCCA/GACACG 2 -- ds50010--------
    rs79831211,2
    C,A--101255969(+) CAACAA/CGTGAG 2 -- ds50010--------
    rs1504555941,2
    --101256072(+) AAGTCA/TCACAG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for TMTC4 (101256090 - 101327347 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TMTC4
         1 Inversion: 37149

    SABiosciences Cancer Mutation PCR Assays
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    (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

    TMTC4 for disorders           About GeneDecksing

    2 diseases for TMTC4:    About MalaCards
    bipolar disorder    schizophrenia


    Export disorders for TMTC4 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 TMTC4 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with TMTC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    8. 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)
    9. Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. (PubMed id 16094384)1 Tao W.A.... Aebersold R. (2005)
    10. Human ORFeome version 1.1: a platform for reverse proteomics. (PubMed id 15489335)1 Rual J.F....Vidal M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84899 HGNC: 25904 AceView: FLJ14624 Ensembl:ENSG00000125247 euGenes: HUgn84899
    ECgene: TMTC4 H-InvDB: TMTC4

    (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 TMTC4 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 TMTC4 gene:
    Search GeneIP for patents involving TMTC4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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