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

TSC22D4 Gene

protein-coding   GIFtS: 50
GCID: GC07M100060

TSC22 domain family, member 4

 Explore 1 disease affiliated with
TSC22D4 via our new
 Human Malady Compendium 
Biological research products
for TSC22D4
    

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

Aliases
TSC22 Domain Family, Member 41 2     Tsc-22-Like Protein THG-12 3
TILZ21 2 3     TSC22-Related-Inducible Leucine Zipper Protein 22 3
THG12 3 5     TSC22 Domain Family 42
THG-11 2     TSC22 Domain Family Protein 42

External Ids:    HGNC: 216961   Entrez Gene: 816282   Ensembl: ENSG000001669257   OMIM: 6119145   UniProtKB: Q9Y3Q83   

Export aliases for TSC22D4 gene to outside databases

Previous GC identifers: GC07M099709 GC07M099902 GC07M094697


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

Entrez Gene summary for TSC22D4:
TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506)
(Kester et al., 1999 (PubMed 10488076); Fiorenza et al., 2001 (PubMed 11707329)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: T22D4_HUMAN, Q9Y3Q8
Function: Transcriptional repressor




(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_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TSC22D4 gene promoter:
         E2F-4   E2F-3a   E2F-5   Sp1   E2F-2   YY1   E47   E2F-1   E2F   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): TSC22D4 promoter sequence
   Search SABiosciences Chromatin IP Primers for TSC22D4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSC22D4


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

Entrez Gene cytogenetic band: 7p21-p15   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7p21-p15

TSC22D4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSC22D4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M100060:  view genomic region     (about GC identifiers)

Start:
100,060,982 bp from pter      End:
100,076,902 bp from pter
Size:
15,921 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 99,424,226-99,436,987     

(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: T22D4_HUMAN, Q9Y3Q8 (See protein sequence)
Recommended Name: TSC22 domain family protein 4  
Size: 395 amino acids; 41026 Da
Subunit: Forms a homodimer or heterodimer. Can form a heterodimer with TSC22D1
Subcellular location: Nucleus (Potential)
Secondary accessions: A4D2C3 D6W5V9

Explore the universe of human proteins at neXtProt for TSC22D4: NX_Q9Y3Q8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y3Q8

  • TSC22D4 Protein expression data from MOPED and PaxDb:    About this image 
    TSC22D4 Protein Expression
    REFSEQ proteins: NP_112197.1  
    ENSEMBL proteins: 
     ENSP00000300181   ENSP00000388168   ENSP00000377560   ENSP00000395795  

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    Uscn Proteins for TSC22D4

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    TSC22D4 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

    TSC22D4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000580 TSC-22_Dip_Bun

    Graphical View of Domain Structure for InterPro Entry Q9Y3Q8

    ProtoNet protein and cluster: Q9Y3Q8

    1 Blocks protein family: IPB000580 TSC-22 / Dip / Bun family

    UniProtKB/Swiss-Prot: T22D4_HUMAN, Q9Y3Q8
    Similarity: Belongs to the TSC-22/Dip/Bun family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: T22D4_HUMAN, Q9Y3Q8
    Function: Transcriptional repressor

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
         
    TSC22D4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TSC22D4 

    miRNA
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    miRTarBase miRNAs that target TSC22D4:
    hsa-mir-124 (MIRT004100)

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    hsa-miR-320a hsa-miR-331-3p hsa-miR-1260b hsa-miR-944 hsa-miR-346 hsa-miR-1297 hsa-miR-124 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidTSC22D4 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC22D4


    (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 TSC22D4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/67 Interacting proteins for TSC22D4 (Q9Y3Q81, 2, 3 ENSP000003001814) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZMYND10O758001, 2, 3, ENSP000002317494EBI-739485,EBI-747061 MINT-66981 I2D: score=6 STRING: ENSP00000231749
    NRBP1Q9UHY12, 3, ENSP000002335574MINT-67585 I2D: score=6 STRING: ENSP00000233557
    ABLIM1O146392, 3, ENSP000003381904MINT-67508 I2D: score=5 STRING: ENSP00000338190
    CCNKO759092, 3, ENSP000003745294MINT-66119 I2D: score=5 STRING: ENSP00000374529
    CKS2P335522, 3, ENSP000003649764MINT-67632 I2D: score=5 STRING: ENSP00000364976
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS--
    GO:0006970response to osmotic stress IEA--
    GO:0045892negative regulation of transcription, DNA-dependent NAS--

    TSC22D4 for ontologies           About GeneDecksing



    (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 TSC22D4
    Search CenterWatch for drugs/clinical trials and news about TSC22D4 / T22D4 

    (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, Sirion Biotech, 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 TSC22D4 gene: 
    NM_030935.3  

    Unigene Cluster for TSC22D4:

    TSC22 domain family, member 4
    Hs.469798  [show with all ESTs]
    Unigene Representative Sequence: NM_030935
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496728 ENST00000300181(uc003uva.3 uc011kjv.2 uc010lgx.3)
    ENST00000423266 ENST00000393991 ENST00000456330 ENST00000493217(uc003uvc.4)


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    hsa-miR-320a hsa-miR-331-3p hsa-miR-1260b hsa-miR-944 hsa-miR-346 hsa-miR-1297 hsa-miR-124 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidTSC22D4 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AJ133115.1 AK296580.1 AK297702.1 AK310800.1 AK314824.1 BC001486.2 BC001966.1 BC002972.1 
    BC010406.2 BC011974.1 BC031622.1 

    16 DOTS entries:

    DT.115225  DT.91753677  DT.91753702  DT.100651302  DT.121124226  DT.100651300  DT.102827085  DT.91967431 
    DT.121124229  DT.91793234  DT.101974815  DT.121124189  DT.121124193  DT.91708964  DT.95306620  DT.95327062 

    24/355 AceView cDNA sequences (see all 355):

    BC010406 BE675993 CA444044 AI869604 BC031966 BU957185 BQ229311 BM551655 
    CR594978 BM996598 BQ221916 AI869974 BE674928 AW148991 AW194400 AI620212 
    AI792415 BQ027655 BU172117 BF512593 NM_001004323 AA300675 BF110003 CK430677 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TSC22D4 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for TSC22D4

    (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

    TSC22D4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGCGGTCC
    TSC22D4 Expression
    About this image
    See TSC22D4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TSC22D4

    SOURCE GeneReport for Unigene cluster: Hs.469798
        SABiosciences Custom PCR Arrays for TSC22D4

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC22D4

    (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 TSC22D4 gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta bun6
    bunched
    6(a)
    1 → many
    2L(12455540-12546630)
    worm
    (Caenorhabditis elegans)
    Secernentea C30G4.76
    --
    31(a)
    1 → many
    X(17056853-17058462)


    ENSEMBL Gene Tree for TSC22D4 (if available)
    TreeFam Gene Tree for TSC22D4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TSC22D4 gene
    TSC22D32  TSC22D12  TSC22D22  
    3 SIMAP similar genes for TSC22D4 using alignment to 5 protein entries:     T22D4_HUMAN (see all proteins):
    TSC22D2    TSC22D3    TSC22D1

    TSC22D4 for paralogs           About GeneDecksing



    (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

    10/189 NCBI SNPs in TSC22D4 are shown (see all 189    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs126664411,2
    C,H--100063763(+) TGCCCA/GGGGAG 2 -- int1 us2k10--------
    rs114532251,2
    C--100063919(+) CCCAG-/TCCCCC 1 -- int10--------
    rs799894371,2
    --100064028(+) TCCTCC/TGTCTC 1 -- int10--------
    rs1854540391,2
    --100064115(+) CACAAG/TCAACG 1 -- int10--------
    rs115591211,2
    C,F,H--100064494(+) GACACG/AGGGAC 1 -- ut31 ese35Minor allele frequency- A:0.01NS 848
    rs1817970621,2
    --100064529(+) GCAGGC/TGGCTG 1 -- ut310--------
    rs1999944631,2
    --100064590(+) GACGGA/GGGGCC 2 P S mis10--------
    rs2018961231,2
    --100064609(+) GCAGGA/GGGCCC 2 P syn10--------
    rs346662771,2
    C,F--100064620(-) TCCCAC/TGGCTT 2 R W mis12Minor allele frequency- T:0.02NA EU 255
    rs1439084521,2
    C--100064709(+) CGTTCC/TGCTCC 2 Q R mis11Minor allele frequency- T:0.00NA 4536

    HapMap Linkage Disequilibrium report for TSC22D4 (100060982 - 100076902 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TSC22D4
         1 CNV: 4549

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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

    TSC22D4 for disorders           About GeneDecksing

    OMIM gene information: 611914    OMIM disorders: --

    1 disease for TSC22D4:    About MalaCards
    ataxia

    1 disease from the University of Copenhagen DISEASES database for TSC22D4:
    Hypobetalipoproteinemia

    Export disorders for TSC22D4 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 TSC22D4 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with TSC22D4)
        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. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    3. Transforming growth factor-beta-stimulated clone-22 is a member of a family of leucine zipper proteins that can homo- and heterodimerize and has transcriptional repressor activity. (PubMed id 10488076)1, 2 Kester H.A....van der Burg B. (1999)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    6. Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila. (PubMed id 20149264)1 Gluderer S....Stocker H. (2010)
    7. tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl transferase, shares unexpected structural homology with canonical 5'- 3' DNA polymerases. (PubMed id 21059936)1 Hyde S.J.... Doublie S. (2010)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    9. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81628 HGNC: 21696 AceView: THG-1andMGC43036 Ensembl:ENSG00000166925 euGenes: HUgn81628
    ECgene: TSC22D4 H-InvDB: TSC22D4

    (According to HUGE)
    About This Section
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    (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 TSC22D4 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 TSC22D4 gene:
    Search GeneIP for patents involving TSC22D4

    GeneCards and IP:
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