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

TNXB Gene

protein-coding   GIFtS: 62
GCID: GC06M032008

Tenascin XB


(Previous symbols: TNXB1, TNXB2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tenascin XB1 2     TNXBS2 5
TNXB11 2 3 5     EDS32
TNXB21 2 3 5     TENX2
TNX2 3 5     XBS2
Hexabrachion-Like Protein2 3     Growth-Inhibiting Protein 452
HXBL2 3     Tenascin XB12
TN-X2 3     Tenascin XB22
XB2 3     tenascin-X2

External Ids:    HGNC: 119761   Entrez Gene: 71482   Ensembl: ENSG000001684777   OMIM: 6009855   UniProtKB: P221053   

Export aliases for TNXB gene to outside databases

Previous GC identifers: GC06M032037 GC06M031779 GC06M032080 GC06M032085 GC06M032116 GC06M032087 GC06M032089 GC06M032091 GC06M032093 GC06M032095 GC06M032097 GC06M031976


(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 TNXB Gene:
This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have
anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix
maturation during wound healing, and its deficiency has been associated with the connective tissue disorder
Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on
chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this
gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this
gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TNXB Gene: 
TNXB (tenascin XB) is a protein-coding gene. Diseases associated with TNXB include hypermobility syndrome, and ehlers-danlos syndrome, hypermobility type, and among its related super-pathways are Focal Adhesion and ECM-receptor interaction. GO annotations related to this gene include heparin binding and collagen binding. An important paralog of this gene is TNR.

UniProtKB/Swiss-Prot: TENX_HUMAN, P22105
Function: Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule
that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the
growth of epithelial tumors

Gene Wiki entry for TNXB (Tenascin X) 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_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  
NT_167248.1  NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TNXB gene promoter:
         AP-1   Sp1   Bach2   HOXA5   COMP1   Lmo2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNXB promoter sequence
   Search SABiosciences Chromatin IP Primers for TNXB

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


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032008:  view genomic region     (about GC identifiers)

Start:
32,008,931 bp from pter      End:
32,083,111 bp from pter
Size:
74,181 bases      Orientation:
minus strand

6/7 alternative locations (see all 7):
Chr6-,NT_167244 3,356,184-3,368,643      Chr6-,NT_167247 3,388,773-3,456,979      Chr6-,NT_167245 3,288,148-3,356,325     
Chr6-,NT_167249 3,341,640-3,368,931      Chr6-,NT_167248 3,269,986-3,314,927      Chr6-,NT_113891.2 3,479,583-3,547,813     

(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: TENX_HUMAN, P22105 (See protein sequence)
Recommended Name: Tenascin-X precursor  
Size: 4289 amino acids; 464325 Da
Subunit: Homotrimer. Interacts with type I, III and V collagens and tropoelastin via its 29th fibronectin type-III
domain
Subcellular location: Secreted, extracellular space, extracellular matrix
Developmental stage: Expression levels are lower in adults than in children
Caution: There are two genes for TN-X: TNXA and TNXB. TNXA is a partial gene which can sometimes recombine with
TNXB
Sequence caution: Sequence=AAH33740.1; Type=Erroneous initiation; Sequence=CAB89296.1; Type=Erroneous initiation;
Sequence=CAI17414.1; Type=Erroneous gene model prediction; Sequence=CAI17471.1; Type=Erroneous gene model
prediction; Sequence=CAI18078.1; Type=Erroneous gene model prediction; Sequence=CAI18332.1; Type=Erroneous gene
model prediction; Sequence=CAQ09268.1; Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for TNXB:
2CUH (3D)        2CUI (3D)        2CUM (3D)    
Secondary accessions: P78530 P78531 Q08424 Q08AM0 Q08AM1 Q59GU7 Q5SQD3 Q5ST74 Q7L8Q4 Q8N4R1
Q9NPK9 Q9UC10 Q9UC11 Q9UC12 Q9UC13 Q9UMG7
Alternative splicing: 3 isoforms:  P22105-1   P22105-2   P22105-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TNXB: NX_P22105

Explore proteomics data for TNXB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22105

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

    TNXB Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_061978.6  NP_115859.2  

    ENSEMBL proteins: 
     ENSP00000364393   ENSP00000407685   ENSP00000418248   ENSP00000389946   ENSP00000364396  
    Reactome Protein details: P22105
    Human Recombinant Protein Products for TNXB: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TNXB (Tenascin XB2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for TNXB
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for TNXB
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    Novus Biologicals TNXB Protein
    Novus Biologicals TNXB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005578proteinaceous extracellular matrix NAS7686164
    GO:0005583colocalizes with fibrillar collagen IDA16278880
    GO:0005615extracellular space IDA--
    GO:0005622intracellular IDA15102077

    TNXB for ontologies           About GeneDecksing



    TNXB Antibody Products: 
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    Novus Biologicals TNXB Antibodies
    Abcam antibodies for TNXB
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    LSBio Antibodies in human, mouse, rat for TNXB 

    Assay Products for TNXB: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    FIBC: Fibrinogen C domain containing

    5/8 InterPro protein domains (see all 8):
     IPR020837 Fibrinogen_CS
     IPR000742 EG-like_dom
     IPR003961 Fibronectin_type3
     IPR013032 EGF-like_CS
     IPR014715 Fibrinogen_a/b/g_C_2

    Graphical View of Domain Structure for InterPro Entry P22105

    ProtoNet protein and cluster: P22105

    3 Blocks protein domains:
    IPB002049 Laminin-type EGF-like domain
    IPB002181 Fibrinogen
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: TENX_HUMAN, P22105
    Similarity: Belongs to the tenascin family
    Similarity: Contains 19 EGF-like domains
    Similarity: Contains 1 fibrinogen C-terminal domain
    Similarity: Contains 32 fibronectin type-III domains


    TNXB 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TENX_HUMAN, P22105
    Function: Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule
    that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the
    growth of epithelial tumors

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding ISS--
    GO:0005515protein binding ----
    GO:0005518collagen binding IEA--
    GO:0008201heparin binding ISS--
         
    TNXB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TNXB:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tnxb):
     integument  mortality/aging  tumorigenesis 

    TNXB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tnxbtm1Kmat for TNXB

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TNXB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TNXB

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TNXB
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate TNXB (see all 13):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-137 hsa-miR-148b hsa-miR-30d hsa-miR-152 hsa-miR-942 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidTNXB 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TNXB
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): TNXB (NM_019105)
    Sino Biological Human cDNA Clone for TNXB
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    (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 TNXB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    2Non-integrin membrane-ECM interactions
    ECM-receptor interaction0.42
    ECM proteoglycans0.38
    3Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39
    4MicroRNAs in cancer
    MicroRNAs in cancer
    5PI3K-Akt signaling pathway
    PI3K-Akt signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TNXB
        Focal Adhesion


    2        Reactome Pathways for TNXB
        ECM proteoglycans
    Extracellular matrix organization


    4         Kegg Pathways  (Kegg details for TNXB):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    MicroRNAs in cancer


    TNXB for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for TNXB (P221052, 3 ENSP000003643964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VEGFBP497653, ENSP000003111274I2D: score=1 STRING: ENSP00000311127
    VEGFAP156923, ENSP000003611254I2D: score=1 STRING: ENSP00000361125
    BANPQ8N9N53I2D: score=1 
    --P0C6Z12MINT-6770484
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006631fatty acid metabolic process IEA--
    GO:0006641triglyceride metabolic process IEA--
    GO:0007155cell adhesion ISS--
    GO:0007160cell-matrix adhesion IEA--

    TNXB 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

    TNXB for compounds           About GeneDecksing

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

    Browse Tocris compounds for TNXB (TENX)

    4 Novoseek inferred chemical compound relationships for TNXB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    steroid 42.3 13 7686164 (2), 8614402 (2), 10343159 (1), 10859342 (1) (see all 7)
    fibrinogen 21.1 2 9795100 (1), 17033827 (1)
    threonine 15.2 1 10859342 (1)
    serine 0 1 10859342 (1)

    Search CenterWatch for drugs/clinical trials and news about TNXB / TENX

    (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 TNXB gene (2 alternative transcripts): 
    NM_019105.6  NM_032470.3  

    Unigene Cluster for TNXB:

    Tenascin XB
    Hs.485104  [show with all ESTs]
    Unigene Representative Sequence: NM_019105
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375244 ENST00000451343(uc003nzg.1) ENST00000490077(uc003nzh.1)
    ENST00000498094 ENST00000479795 ENST00000486148(uc010jts.1) ENST00000442721
    ENST00000375247(uc003nzl.2)
    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate TNXB (see all 13):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-137 hsa-miR-148b hsa-miR-30d hsa-miR-152 hsa-miR-942 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidTNXB 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNXB

    Additional mRNA sequence: 

    AB209012.1 AK310080.1 BC033740.1 BC071883.1 BC125114.1 BC125115.1 BC130037.1 EU219621.1 
    M25813.1 U24488.1 U52699.1 U52700.1 X71923.1 X71927.1 Y13782.1 Y17865.1 
    Y17866.1 Y17867.1 Y17868.1 

    16 DOTS entries:

    DT.446229  DT.91940211  DT.99966274  DT.100726147  DT.91753285  DT.91753287  DT.91949761  DT.95182965 
    DT.100727968  DT.91753283  DT.91835724  DT.91973904  DT.102830673  DT.121361465  DT.121361964  DT.95161691 

    24/262 AceView cDNA sequences (see all 262):

    AA828336 BC033740 BP359599 BM561229 BI914329 CB528884 BC077075 AL044866 
    CB853478 BM712719 BG741952 BM904001 Y17868 BU540502 BI011356 BM723024 
    BM926447 AI637709 Y13782 BF081859 CB243599 NR_001284 NM_004381 BM691419 

    GeneLoc Exon Structure


    (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

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


    TNXB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Endocardial Cells Endocardium
     
     Adrenal Gland (Endocrine System)
             Adrenal Cortex   
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Thyroid (Endocrine System)

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

    SOURCE GeneReport for Unigene cluster: Hs.485104

    UniProtKB/Swiss-Prot: TENX_HUMAN, P22105
    Tissue specificity: Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle.
    Isoform XB-short is only expressed in the adrenal gland

        SABiosciences Custom PCR Arrays for TNXB
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNXB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNXB

    (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 TNXB gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnxb1 , 5 tenascin XB1, 5 71.48(n)1
    67.79(a)1
      17 (18.24 cM)5
    818771  NM_031176.21  NP_112453.21 
     346705355 
    chicken
    (Gallus gallus)
    Aves --
    --

    possible ortholog
    16(16221-33713)
    lizard
    (Anolis carolinensis)
    Reptilia TNXB6
    Uncharacterized protein
    10(a)
    1 ↔ 1
    2(197866824-198020284)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.125572 Xenopus laevis transcribed sequence with weak similarity to protein pirA40701 (H.sapiens) A40701 tenascin-X precursor - human less 71.87(n)    BX846582.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.185472 Transcribed sequence with weak similarity to protein pirA40701 (H.sapiens) A40701 tenascin-X precursor - human less 76.5(n)    BQ419910.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sca3 eye morphogenesis (sensu Drosophila)
    signal transducer less
    38(a)
    (best of 2)
      2 49D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea T15B7.16
    Protein T15B7.1
    20(a)
    possible ortholog
    V(6842774-6846668)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TNXB gene
    TNR2  FGG2  FGA2  ANGPTL42  ANGPTL32  TNN2  FGB2  ANGPTL52  
    TNC2  FGL12  FN12  
    15 SIMAP similar genes for TNXB using alignment to 7 protein entries:     TENX_HUMAN (see all proteins):
    XB    dJ34F7.1    TNXA    ANGPTL2    FCN1    ANGPTL7
    FCN2    FCN3    MFAP4    ANGPT1    FIBCD1    FGL1
    LFIRE1    SNED1    TNR

    TNXB for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TNXB
    PGOHUM00000243139 PGOHUM00000260124


    (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

    10/1694 SNPs in TNXB are shown (see all 1694)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219125751,2
    Cpathogenic131969651(-) TGCCCG/ATGGAA 2 /M /V mis11Minor allele frequency- A:0.00EU 569
    rs93782521,2
    C,Fprobable-pathogenic131923730(+) GCTCCA/TCCTTG 1 -- int118Minor allele frequency- T:0.09NA MN WA EA EU 2899
    rs93782511,2
    C,Funtested131923634(+) CCTCCT/CGCCTC 1 -- int12Minor allele frequency- C:0.10NA 72
    rs2016490531,2
    Cuntested131941138(+) GCACGA/GTGAAG 2 T I mis10--------
    rs1939225441,2
    Cunknown131924207(+) CTCCTC/GCTGCA 1 -- int10--------
    VAR_0464994
    ----see VAR_0464992 R W mis40--------
    VAR_0465004
    ----see VAR_0465002 V M mis40--------
    VAR_0465014
    ----see VAR_0465012 L I mis40--------
    rs2010052941,2
    F--31762730(+) ATCTCC/TGGCTA 2 -- ds50011Minor allele frequency- T:0.14EU 663
    rs2022427691,2
    F--31762779(+) AAGGCG/ACCCAC 2 -- ds50011Minor allele frequency- A:0.01EU 1027

    HapMap Linkage Disequilibrium report for TNXB (32008931 - 32083111 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/60 variations for TNXB (see all 60):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731825CNV Deletion23290073
    dgv1099e199CNV Deletion23128226
    dgv20n31CNV Duplication19718026
    nsv5248CNV Insertion18451855
    nsv884665CNV Loss21882294
    dgv6631n71CNV Loss21882294
    nsv884626CNV Loss21882294
    dgv6635n71CNV Loss21882294
    nsv285CNV Loss15895083
    nsv830629CNV Loss17160897


    Human Gene Mutation Database (HGMD): TNXB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TNXB
    DNA2.0 Custom Variant and Variant Library Synthesis for TNXB

    (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: 600985   
    OMIM disorders: 606408  130020  
    UniProtKB/Swiss-Prot: TENX_HUMAN, P22105
  • Tenascin-X deficiency (TNXD) [MIM:606408]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by
    hyperextensible skin, hypermobile joints, and tissue fragility. Tenascin-X-deficient patients, however, lack
    atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos. Delayed wound healing, which is also
    common in classic EDS, is only present in a subset of patients. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 20/39 diseases for TNXB (see all 39):    About MalaCards
    hypermobility syndrome    ehlers-danlos syndrome, hypermobility type    ehlers-danlos due to tenascin x deficiency    aneurysm disease
    alcoholic cardiomyopathy    cervical incompetence    ehlers-danlos syndrome    21-hydroxylase deficiency
    mitral valve prolapse    aortic aneurysm    juvenile rheumatoid arthritis    pleomorphic adenoma
    breast disease    connective tissue disease    abdominal aortic aneurysm    malignant mesothelioma
    neurofibromatosis    leiomyoma    choroiditis    myopathy

    2 diseases from the University of Copenhagen DISEASES database for TNXB:
    Ehlers-Danlos syndrome     Hypermobility syndrome

    TNXB for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for TNXB gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tnx deficiency 94.9 5 19921645 (1), 9288108 (1), 17033827 (1)
    ehlers-danlos syndrome 90.7 32 11642233 (4), 11925569 (4), 16278880 (2), 15366699 (2) (see all 20)
    ehlers-danlos syndrome, type iii 85.4 3 19921645 (1), 15708907 (1), 15733269 (1)
    hypermobility syndrome 68.9 2 15708907 (1), 16601453 (1)
    collagen fibril 63.6 5 16278880 (1), 20089348 (1), 16331473 (1), 17033827 (1) (see all 5)
    connective tissue diseases 50.2 4 18595676 (1), 15558324 (1), 11925569 (1)
    aortic aneurysm abdominal 15 2 16567571 (2)
    scar 11.4 5 17453911 (3)
    inflammation 0 1 17234708 (1)
    glioma 0 2 9144580 (1)

    GeneTests: TNXB
    GeneReviews: TNXB
    Genetic Association Database (GAD): TNXB
    Human Genome Epidemiology (HuGE) Navigator: TNXB (19 documents)

    Export disorders for TNXB 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 TNXB gene, integrated from 9 sources (see all 123):
    (articles sorted by number of sources associating them with TNXB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X. (PubMed id 8530023)1, 2, 3, 9 Tee M.K.... Miller W.L. (1995)
    2. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. (PubMed id 9288108)1, 4, 9 Burch G.H....Bristow J. (1997)
    3. Interactions of human tenascin-X domains with dermal extracellular matrix molecules. (PubMed id 17033827)1, 2, 9 Egging D....Schalkwijk J. (2007)
    4. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (PubMed id 11642233)1, 2, 9 Schalkwijk J.... Bristow J. (2001)
    5. Identification and characterization of multiple species of tenascin-X in human serum. (PubMed id 17263730)1, 2, 9 Egging D.F.... Schalkwijk J. (2007)
    6. Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. (PubMed id 15733269)1, 2, 9 Zweers M.C....Schalkwijk J. (2005)
    7. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. (PubMed id 7686164)1, 2, 9 Bristow J.... Miller W.L. (1993)
    8. Lack of a genetic association between the TNXB locus and schizophrenia in a Chinese population. (PubMed id 14729256)1, 4, 9 Liu L.L....Hemmings G.P. (2004)
    9. Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes. (PubMed id 8923003)1, 2, 9 Speek M.... Miller W.L. (1996)
    10. Genetic loci associated with plasma phospholipid n-3 f atty acids: a meta-analysis of genome-wide association studies from the CHARGE C onsortium. (PubMed id 21829377)1, 4 Lemaitre R.N....Steffen L.M. (2011)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7148 HGNC: 11976 AceView: CREBL1andTNXB Ensembl:ENSG00000168477 euGenes: HUgn7148
    ECgene: TNXB Kegg: 7148 H-InvDB: TNXB

    (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 TNXB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNXB

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

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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