Human Gene TNXB (ENST00000644971.2_11) from GENCODE V47lift37
  Description: tenascin XB, transcript variant XB (from RefSeq NM_019105.8)
Gencode Transcript: ENST00000644971.2_11
Gencode Gene: ENSG00000168477.21_15
Transcript (Including UTRs)
   Position: hg19 chr6:32,008,930-32,077,115 Size: 68,186 Total Exon Count: 44 Strand: -
Coding Region
   Position: hg19 chr6:32,009,126-32,065,975 Size: 56,850 Coding Exon Count: 43 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:32,008,930-32,077,115)mRNA (may differ from genome)Protein (4244 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TENX_HUMAN
DESCRIPTION: RecName: Full=Tenascin-X; Short=TN-X; AltName: Full=Hexabrachion-like protein; Flags: Precursor;
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.
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.
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.
DEVELOPMENTAL STAGE: Expression levels are lower in adults than in children.
DISEASE: Defects in TNXB are the cause of 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.
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.
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;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNXB";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TNXB
Diseases sorted by gene-association score: ehlers-danlos syndrome due to tenascin x deficiency* (1603), vesicoureteral reflux 8* (1329), ehlers-danlos syndrome, hypermobility type* (471), familial vesicoureteral reflux* (247), ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency* (100), ehlers-danlos syndrome (36), hypermobility syndrome (31), vesicoureteral reflux (25), steroid inherited metabolic disorder (6), connective tissue disease (2), collagen disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.20166-0.459 Picture PostScript Text
3' UTR -72.40196-0.369 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR002181 - Fibrinogen_a/b/g_C
IPR014716 - Fibrinogen_a/b/g_C_1
IPR014715 - Fibrinogen_a/b/g_C_2
IPR020837 - Fibrinogen_CS
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00147 - Fibrinogen beta and gamma chains, C-terminal globular domain
PF07974 - EGF-like domain
PF18720 - Tenascin EGF domain

SCOP Domains:
48726 - Immunoglobulin
49363 - Purple acid phosphatase, N-terminal domain
81296 - E set domains
49265 - Fibronectin type III
49401 - Bacterial adhesins
49899 - Concanavalin A-like lectins/glucanases
50249 - Nucleic acid-binding proteins
50494 - Trypsin-like serine proteases
51445 - (Trans)glycosidases
56420 - Peptide deformylase
56496 - Fibrinogen C-terminal domain-like
57196 - EGF/Laminin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CUH - NMR 2CUI - NMR 2CUM - NMR


ModBase Predicted Comparative 3D Structure on P22105
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0008201 heparin binding

Biological Process:
GO:0007155 cell adhesion
GO:0030036 actin cytoskeleton organization
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0032963 collagen metabolic process
GO:0048251 elastic fiber assembly

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0031012 extracellular matrix
GO:0070062 extracellular exosome
GO:0005583 fibrillar collagen trimer


-  Descriptions from all associated GenBank mRNAs
  AB209012 - Homo sapiens mRNA for tenascin XB isoform 1 variant protein.
U24488 - Human tenascin-X (XA) mRNA, complete cds.
M25813 - Human unidentified gene complementary to P450c21 gene, partial cds.
BC071883 - Homo sapiens tenascin XB, mRNA (cDNA clone IMAGE:6571962), partial cds.
BC033740 - Homo sapiens tenascin XB, mRNA (cDNA clone IMAGE:5179997), complete cds.
JD383681 - Sequence 364705 from Patent EP1572962.
EU219621 - Homo sapiens growth-inhibiting protein 45 mRNA, complete cds.
JD487833 - Sequence 468857 from Patent EP1572962.
JD458040 - Sequence 439064 from Patent EP1572962.
BC125114 - Homo sapiens tenascin XB, mRNA (cDNA clone IMAGE:40118876), complete cds.
BC125115 - Homo sapiens tenascin XB, mRNA (cDNA clone IMAGE:40118878), complete cds.
BC130037 - Homo sapiens tenascin XB, mRNA (cDNA clone IMAGE:40118874), complete cds.
JF432266 - Synthetic construct Homo sapiens clone IMAGE:100073438 tenascin XB (TNXB) gene, encodes complete protein.
KJ897693 - Synthetic construct Homo sapiens clone ccsbBroadEn_07087 TNXB gene, encodes complete protein.
CU689722 - Synthetic construct Homo sapiens gateway clone IMAGE:100020002 5' read TNXB mRNA.
JD443638 - Sequence 424662 from Patent EP1572962.
JD386826 - Sequence 367850 from Patent EP1572962.
JD213749 - Sequence 194773 from Patent EP1572962.
Y17868 - Homo sapiens mRNA for tenascin-X (partial), fibronectin type III repeats ho-h4.
Y17867 - Homo sapiens mRNA for tenascin-X (partial), fibronectin type III repeats h13-h16 and h13a.
Y17866 - Homo sapiens mRNA for tenascin-X (partial), fibronectin type III repeats h5-h13 and h6a.
Y13782 - Homo sapiens mRNA for tenascin-X, partial.
X71927 - H.sapiens mRNA for tenascin-X, repeat IV.
Y17865 - Homo sapiens mRNA for tenascin-X (partial), fibronectin type III repeats ho-h4.
AK310080 - Homo sapiens cDNA, FLJ17122.
X71923 - H.sapiens XB gene for tenascin-X, exons 1 & 2.
U52696 - Human adrenal Creb-rp homolog (Creb-rp), complete cds, and tenascin-X (XB), partial cds, mRNA.
U52700 - Human tenascin-X (XB) mRNA, RACE clone N1, partial cds.
U52701 - Human adrenal Creb-rp homolog (Creb-rp) and tenascin-X (XB) mRNA, RACE clone N2, partial cds.
U52699 - Human tenascin-X (XB) mRNA, RACE clone M1, partial cds.
JD178921 - Sequence 159945 from Patent EP1572962.
JD068816 - Sequence 49840 from Patent EP1572962.
JD397951 - Sequence 378975 from Patent EP1572962.
JD127108 - Sequence 108132 from Patent EP1572962.
JD227196 - Sequence 208220 from Patent EP1572962.
JD161710 - Sequence 142734 from Patent EP1572962.
JD151989 - Sequence 133013 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P22105 (Reactome details) participates in the following event(s):

R-HSA-2424246 Tenascins C, R, (X, N) bind lecticans
R-HSA-2681681 Tenascins C, R, (X, N) bind fibronectin matrix
R-HSA-3000178 ECM proteoglycans
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000644971.1, HXBL, NM_019105, P22105, P78530, P78531, Q08424, Q08AM0, Q08AM1, Q59GU7, Q5SQD3, Q5ST74, Q7L8Q4, Q8N4R1, Q9NPK9, Q9UC10, Q9UC11, Q9UC12, Q9UC13, Q9UMG7, TENX_HUMAN, TNX, TNXB , TNXB1, TNXB2, uc328ldf.1, uc328ldf.2, XB
UCSC ID: ENST00000644971.2_11
RefSeq Accession: NM_001365276.2
Protein: P22105 (aka TENX_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TNXB:
tnxb-eds (TNXB-Related Classical-Like Ehlers-Danlos Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.