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

TSC22D1 Gene

protein-coding   GIFtS: 63
GCID: GC13M045007

TSC22 Domain Family, Member 1

(Previous name: transforming growth factor beta 1 induced transcript 4)
(Previous symbol: TGFB1I4)
  16 related diseases
at
MalaCards
 

Aliases
for TSC22D1 gene

(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
TSC22 Domain Family, Member 11 2     Transforming Growth Factor Beta 1 Induced Transcript 41
TGFB1I41 2 3     Ptg-22
TSC222 3 5     TGFbeta-Stimulated Clone 222
Cerebral Protein 22 3     Transcriptional Regulator TSC-222
Regulatory Protein TSC-222 3     Transforming Growth Factor Beta-Stimulated Protein TSC-222
Transforming Growth Factor Beta-1-Induced Transcript 4 Protein2 3     TSC22 Domain Family Protein 12
TGFB-Stimulated Clone 22 Homolog2 3     KIAA19943

External Ids:    HGNC: 168261   Entrez Gene: 88482   Ensembl: ENSG000001028047   OMIM: 6077155   UniProtKB: Q157143   

Export aliases for TSC22D1 gene to outside databases

Previous GC identifers: GC13M043906 GC13M025809


Summaries
for TSC22D1 gene

(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 TSC22D1 Gene:
This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein
is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including
C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the
induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been
associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have
been observed for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for TSC22D1 Gene: 
TSC22D1 (TSC22 domain family, member 1) is a protein-coding gene. Diseases associated with TSC22D1 include salivary gland cancer, and lung adenoma, and among its related super-pathways are Development TGF-beta receptor signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TSC22D3.

UniProtKB/Swiss-Prot: T22D1_HUMAN, Q15714
Function: Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter

Gene Wiki entry for TSC22D1 Gene


Genomic Views
for TSC22D1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TSC22D1 gene promoter:
         Oct-B1   Bach1   USF1   Spz1   oct-B2   oct-B3   USF2   Nkx2-5   SRY   POU2F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TSC22D1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TSC22D1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSC22D1


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

Entrez Gene cytogenetic band: 13q14   Ensembl cytogenetic band:  13q14.11   HGNC cytogenetic band: 13q14

TSC22D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSC22D1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M045007:  view genomic region     (about GC identifiers)

Start:
 45,007,655 bp from pter      End:
 45,151,283 bp from pter
Size:
 143,629 bases      Orientation:
 minus strand

Proteins
for TSC22D1 gene

(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: T22D1_HUMAN, Q15714 (See protein sequence)
Recommended Name: TSC22 domain family protein 1  
Size: 1073 amino acids; 109677 Da
Subunit: Homodimer or heterodimer. Can form a heterodimer with TSC22D4
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity)
Sequence caution: Sequence=BAC02703.1; Type=Erroneous initiation;
Secondary accessions: B3KRL7 B9EGI0 O00666 Q6AHX5 Q6IBU1 Q8NCN1 Q96JS5
Alternative splicing: 4 isoforms:  Q15714-1   Q15714-2   Q15714-3   Q15714-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TSC22D1: NX_Q15714

Explore proteomics data for TSC22D1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15714

    • TSC22D1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TSC22D1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001230726.1  NP_001230727.1  NP_001230728.1  NP_006013.1  NP_904358.2  

    ENSEMBL proteins: 
     ENSP00000397435   ENSP00000261489   ENSP00000419864   ENSP00000417476   ENSP00000418739  
     ENSP00000437414  

    Human Recombinant Protein Products for TSC22D1: 
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    Novus Biologicals TSC22D1 Proteins
    Novus Biologicals TSC22D1 Lysates
    Sino Biological Recombinant Protein for TSC22D1
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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--

    TSC22D1 for ontologies           About GeneDecksing



    TSC22D1 Antibody Products: 
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    Abcam antibodies for TSC22D1
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    LSBio Antibodies in human, mouse, rat for TSC22D1 

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    Protein Domains /
    Families
    for TSC22D1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 1 InterPro protein domain:
     IPR000580 TSC-22_Dip_Bun

    Graphical View of Domain Structure for InterPro Entry Q15714

    ProtoNet protein and cluster: Q15714

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

    UniProtKB/Swiss-Prot: T22D1_HUMAN, Q15714
    Similarity: Belongs to the TSC-22/Dip/Bun family


    TSC22D1 for domains           About GeneDecksing


    Function
    for TSC22D1 gene

    (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
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: T22D1_HUMAN, Q15714
    Function: Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter
    Induction: In aortic endothelial cells, induced by cytokines, including TGFB1

         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 IPI18325344
         
    TSC22D1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TSC22D1:
     Decreased viability with carbo 

         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tsc22d1):
     cardiovascular system  hematopoietic system  renal/urinary system 

    TSC22D1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tsc22d1tm1Clgr for TSC22D1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TSC22D1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TSC22D1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TSC22D1 

    miRNA
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    hsa-miR-4291 hsa-miR-429 hsa-miR-488 hsa-miR-301a hsa-miR-519a hsa-miR-1244 hsa-miR-200b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: TSC22D1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TSC22D1
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of TSC22D1 

    Cell Line
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    Search LifeMap BioReagents cell lines for TSC22D1
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC22D1


    Pathways & Interactions
    for TSC22D1 gene

    (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

    SuperPaths for TSC22D1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Development TGF-beta receptor signaling
    		Development TGF-beta receptor signaling0.96

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for TSC22D1
        Development TGF-beta receptor signaling



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TSC22D1

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

    5/174 Interacting proteins for TSC22D1 (Q157142, 3 ENSP000003974354) via UniProtKB, MINT, STRING, and/or I2D (see all 174)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDAH2O958652, 3MINT-8275314 I2D: score=2 
    ENSG00000206395O958652, 3MINT-8275314 I2D: score=2 
    ENSG00000225635O958652, 3MINT-8275314 I2D: score=2 
    ENSG00000226634O958652, 3MINT-8275314 I2D: score=2 
    ENSG00000227317O958652, 3MINT-8275314 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS9022669
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0043065positive regulation of apoptotic process IEA--
    GO:0043066negative regulation of apoptotic process IEA--

    TSC22D1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TSC22D1 gene

    (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

    TSC22D1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TSC22D1 (T22D1)

    4 Novoseek inferred chemical compound relationships for TSC22D1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vesnarinone 80.7 5 9459148 (4), 10879745 (1)
    leucine 62.9 27 11836610 (6), 17394598 (1), 11944908 (1), 15379637 (1) (see all 10)
    cycloheximide 21.9 1 9459148 (1)
    5fluorouracil 14.2 2 10854535 (1), 10879745 (1)

    Search CenterWatch for drugs/clinical trials and news about TSC22D1 / T22D1

    Transcripts
    for TSC22D1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 TSC22D1 gene (5 alternative transcripts): 
    NM_001243797.1  NM_001243798.1  NM_001243799.1  NM_006022.3  NM_183422.3  

    Unigene Cluster for TSC22D1:

    TSC22 domain family, member 1
    Hs.436383  [show with all ESTs]
    Unigene Representative Sequence: NM_183422
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000458659(uc021riz.1 uc021rja.1 uc001uzn.4) ENST00000261489(uc001uzm.4)
    ENST00000496314 ENST00000487881 ENST00000496838 ENST00000472477 ENST00000460842
    ENST00000486464 ENST00000437455 ENST00000493016 ENST00000501704(uc001uzo.2)

    miRNA
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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate TSC22D1 (see all 20):
    hsa-miR-4291 hsa-miR-429 hsa-miR-488 hsa-miR-301a hsa-miR-519a hsa-miR-1244 hsa-miR-200b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: TSC22D1 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TSC22D1
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSC22D1
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    Sirion Biotech Customized lentivirus for stable overexpression of TSC22D1 
                         Customized lentivirus expression plasmids for stable overexpression of TSC22D1 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSC22D1
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    Additional mRNA sequence: 

    AB082525.1 AJ222700.1 AK027071.1 AK091854.1 AK290751.1 AK312345.1 AY491432.1 BC000456.2 
    BC009528.2 BC016867.1 BC069207.1 BC105277.1 BC136475.1 BC136482.1 BC146664.1 BC146679.1 
    CR456711.1 CR627459.1 D38585.1 D87061.1 U35048.1 X97299.1 

    24/40 DOTS entries (see all 40):

    DT.100686485  DT.100033049  DT.100686495  DT.453491  DT.100686492  DT.92461789  DT.100686499  DT.100686510 
    DT.209525  DT.40306863  DT.100686509  DT.120791976  DT.405697  DT.120791898  DT.101967247  DT.95273362 
    DT.75189118  DT.100686490  DT.100686511  DT.120792133  DT.120792238  DT.97860973  DT.100686508  DT.120791994 

    24/1195 AceView cDNA sequences (see all 1195):

    CR618349 AW162005 BC016867 BF432176 CR620970 AW080155 BU633390 CR594575 
    AA149819 T33411 BU627270 AI620851 CD366942 AA599758 CR603525 CB215996 
    BP376855 BU528322 N54266 NM_006022 AA838132 CB216893 AL531503 CA412098 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for TSC22D1 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d · 11e · 11f ^ 12
    SP1:                                            -     -     -     -     -           -     -     -     -                                             
    SP2:                                                  -     -     -     -           -     -     -     -                                             
    SP3:                                                        -     -     -           -     -     -     -                                             
    SP4:                                                                    -           -     -     -     -                                             
    SP5:                                                                    -                 -     -     -                                             


    ECgene alternative splicing isoforms for TSC22D1

    Expression
    for TSC22D1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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

    TSC22D1 expression in normal human tissues (normalized intensities)      TSC22D1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTCTACAC
    TSC22D1 Expression
    About this image


    TSC22D1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Thalamus
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             cd31+ cells   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             Human Keratocyte (HK)   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

    See TSC22D1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TSC22D1

    SOURCE GeneReport for Unigene cluster: Hs.436383

    UniProtKB/Swiss-Prot: T22D1_HUMAN, Q15714
    Tissue specificity: Widely expressed in fetal and adult tissues

        SABiosciences Expression via Pathway-Focused PCR Array including TSC22D1: 
              TGFB/BMP Signaling Pathway in human mouse rat

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    In Situ
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    Orthologs
    for TSC22D1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TSC22D1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tsc22d11 , 5 TSC22 domain family, member 11, 5 87.36(n)1
    86.52(a)1    		   14 (40.44 cM)5
    218071  NM_207652.21  NP_997535.21 
     764149615 
    chicken
    (Gallus gallus)    		 Aves TSC22D11 TSC22 domain family, member 1 74.04(n)
    71.47(a)    		   396005  NM_001012760.1  NP_001012778.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TSC22D16
    TSC22D26
    		 Uncharacterized protein
    		 63(a)
    31(a)
    		 possible ortholog
    1 ↔ 1
    		 GL343395.1(503308-508899)
    GL343395.1(575209-578359)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.84142 Xenopus laevis transcribed sequence with moderate similarity more 78.29(n)    BJ063121.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BC056321.12   -- 75.63(n)    BC056321.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta bun1 bunched 39.8(n)
    29.36(a)    		   34665  NM_080364.3  NP_525103.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea C30G4.76
    T18D3.76
    (see all 3)    		 Uncharacterized protein T18D3.7
    (see all 3)    		 40(a)
    23(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 X(17056927-17058536)
    X(12434154-12443915)


    ENSEMBL Gene Tree for TSC22D1 (if available)
    TreeFam Gene Tree for TSC22D1 (if available)

    Paralogs
    for TSC22D1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TSC22D1 gene
    TSC22D32  TSC22D42  TSC22D22  
    3 SIMAP similar genes for TSC22D1 using alignment to 4 protein entries:     T22D1_HUMAN (see all proteins):
    TSC22D3    TSC22D4    TSC22D2

    TSC22D1 for paralogs           About GeneDecksing



    Genomic Variants
    for TSC22D1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    10/2802 SNPs in TSC22D1 are shown (see all 2802)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1414064951,2
    		Cuntested125961793(+) CAGAGA/C/TGAGAC 3 -- int10--------
    rs125849191,2
    		H--25820007(+) aaaaaA/Gaaaag 3 -- int1 trp30--------
    rs1472137551,2
    		C--25825821(+) AAAAC-/AAATAA 3 -- int10--------
    rs718665711,2
    		C--25841675(+) GAAAA-/AAAC  
                AACAA     		3 -- int10--------
    rs665443741,2
    		C--25853335(+) TAGATT/-TTTTT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs355854791,2
    		C--25866632(+) AAAAA-/AT    
           /T/TA    AATAT     		2 -- int10--------
    rs352867641,2
    		C--25866634(+) AAAAAT/-ATATA 2 -- int11Minor allele frequency- -:0.50NA 2
    rs30460361,2
    		C--25887353(+) CACAC-/AC    
           /ACAC    TTTTT     		2 -- int10--------
    rs665790731,2
    		C--25912671(-) TTTTT-/T/TTTT
                TTTTT     		2 -- int11NA 2
    rs1504555551,2
    		C--25922472(+) AATAC-/GTCGTGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for TSC22D1 (45007655 - 45151283 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TSC22D1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669361CNV Deletion23128226
    esv2747332CNV Deletion23290073
    esv2661792CNV Deletion23128226
    esv2677067CNV Deletion23128226
    esv273649CNV Insertion20981092
    esv271017CNV Insertion20981092
    esv23675CNV Loss19812545

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    Disorders / Diseases
    for TSC22D1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 607715    OMIM disorders: --

    16 diseases for TSC22D1:    About MalaCards
    salivary gland cancer    lung adenoma    brain glioma    cerebritis
    macular degeneration    intrahepatic cholangiocarcinoma    cholangiocarcinoma    adenoma
    ataxia    cervical cancer    prostate cancer    prostatitis
    cervicitis    endotheliitis    breast cancer    leukemia

    1 disease from the University of Copenhagen DISEASES database for TSC22D1:
    Lung adenoma

    TSC22D1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for TSC22D1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    salivary gland cancer 92.7 18 11836610 (3), 9458104 (2), 11944908 (2), 15379637 (2) (see all 8)
    astrocytoma 29.4 3 16404353 (2), 12501169 (1)
    diabetic nephropathies 26.1 5 17622752 (3), 12757981 (2)
    tumors 20.4 43 18288391 (9), 16404353 (4), 12501169 (4), 9458104 (2) (see all 11)
    brain tumors 18.3 2 12501169 (2)
    prostate cancer 10.3 2 18375761 (1), 16106424 (1)
    cancer 0 3 15379637 (1), 17273735 (1), 16106424 (1)

    Genetic Association Database (GAD): TSC22D1
    Human Genome Epidemiology (HuGE) Navigator: TSC22D1 (2 documents)

    Export disorders for TSC22D1 gene to outside databases

    Publications
    for TSC22D1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TSC22D1 gene, integrated from 9 sources (see all 74):
    (articles sorted by number of sources associating them with TSC22D1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a transcription factor for the C-type natriuretic peptide gene promoter. (PubMed id 9022669)1, 2, 3, 9 Ohta S.... Nagata K. (1996)
    2. Cloning of the human homologue of the TGF beta-stimulated clone 22 gene. (PubMed id 8651929)1, 2, 3, 9 Jay P....Berta P. (1996)
    3. TGF-beta1 and TSC-22 gene polymorphisms and susceptibility to microvascular complications in type 2 diabetes. (PubMed id 17622752)1, 4, 9 Buraczynska M....Ksiazek A. (2007)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. (2004)
    6. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)1, 2 Ohara O.... Koseki H. (2002)
    7. 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)
    8. The characteristics of different types of mRNA expressed in the human brain. (PubMed id 9026990)1, 2 Dmitrenko V.V....Kavsan V.M. (1996)
    9. Leucine zipper structure of TSC-22 (TGF-beta stimulated clone-22) markedly inhibits the anchorage-independent growth of salivary gland cancer cells. (PubMed id 11836610)1, 9 Hino S....Fujimori T. (2002)
    10. Expression and cellular localization of TSC-22 in normal salivary glands and salivary gland tumors: implications for tumor cell differentiation. (PubMed id 18288391)1, 9 Doi Y....Imai Y. (2008)

    External Searches for TSC22D1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TSC22D1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8848 HGNC: 16826 AceView: TGFB1I4.1 Ensembl:ENSG00000102804 euGenes: HUgn8848
    ECgene: TSC22D1 H-InvDB: TSC22D1

    Other Databases showing TSC22D1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1994

    Specialized Databases showing TSC22D1 gene

    (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 TSC22D1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TSC22D1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for TSC22D1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TSC22D1 gene:
    Search GeneIP for patents involving TSC22D1

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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