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Aliases for TNXB Gene

Aliases for TNXB Gene

  • Tenascin XB 2 3
  • TNXB1 3 4 6
  • TNXB2 3 4 6
  • TNX 3 4 6
  • Hexabrachion-Like Protein 3 4
  • TNXBS 3 6
  • EDS3 3 6
  • HXBL 3 4
  • TN-X 3 4
  • XB 3 4
  • Growth-Inhibiting Protein 45 3
  • Tenascin XB1 3
  • Tenascin XB2 3
  • Tenascin-X 3
  • TENX 3
  • VUR8 3
  • XBS 3

External Ids for TNXB Gene

Previous Symbols for TNXB Gene

  • TNXB1
  • TNXB2

Summaries for TNXB Gene

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 vesicoureteral reflux 8 and ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency. Among its related pathways are PI3K-Akt signaling pathway and MicroRNAs in cancer. GO annotations related to this gene include heparin binding and collagen binding. An important paralog of this gene is TNC.

UniProtKB/Swiss-Prot for TNXB Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNXB Gene

Genomics for TNXB Gene

Genomic Location for TNXB Gene

Start:
32,041,154 bp from pter
End:
32,115,334 bp from pter
Size:
74,181 bases
Orientation:
Minus strand

Genomic View for TNXB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNXB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for TNXB Gene

Proteins for TNXB Gene

  • Protein details for TNXB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22105-TENX_HUMAN
    Recommended name:
    Tenascin-X
    Protein Accession:
    P22105
    Secondary Accessions:
    • P78530
    • P78531
    • Q08424
    • Q08AM0
    • Q08AM1
    • Q59GU7
    • Q5SQD3
    • Q5ST74
    • Q7L8Q4
    • Q8N4R1
    • Q9NPK9
    • Q9UC10
    • Q9UC11
    • Q9UC12
    • Q9UC13
    • Q9UMG7

    Protein attributes for TNXB Gene

    Size:
    4289 amino acids
    Molecular mass:
    464325 Da
    Quaternary structure:
    • Homotrimer. Interacts with type I, III and V collagens and tropoelastin via its 29th fibronectin type-III domain.
    SequenceCaution:
    • Sequence=AAH33740.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB89296.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI17414.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17471.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI18078.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI18332.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAQ09268.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TNXB Gene

    Alternative splice isoforms for TNXB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNXB Gene

Proteomics data for TNXB Gene at MOPED

Post-translational modifications for TNXB Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn31, Asn901, Asn930, Asn3900, Asn3953, Asn3965, and Asn4140

Other Protein References for TNXB Gene

No data available for DME Specific Peptides for TNXB Gene

Domains for TNXB Gene

Gene Families for TNXB Gene

HGNC:
  • FIBC :Fibrinogen C domain containing
  • FN3 :Fibronectin type III domain containing

Suggested Antigen Peptide Sequences for TNXB Gene

Graphical View of Domain Structure for InterPro Entry

P22105

UniProtKB/Swiss-Prot:

TENX_HUMAN
Domain:
  • Contains 19 EGF-like domains.:
    • P22105
  • Contains 1 fibrinogen C-terminal domain.:
    • P22105
  • Contains 32 fibronectin type-III domains.:
    • P22105
Family:
  • Belongs to the tenascin family.:
    • P22105
genes like me logo Genes that share domains with TNXB: view

Function for TNXB Gene

Molecular function for TNXB Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for TNXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding ISS --
GO:0005515 protein binding IPI 21516116
GO:0005518 collagen binding IEA --
GO:0008201 heparin binding ISS --
genes like me logo Genes that share ontologies with TNXB: view

Phenotypes for TNXB Gene

MGI mutant phenotypes for TNXB:
inferred from 2 alleles
GenomeRNAi human phenotypes for TNXB:
genes like me logo Genes that share phenotypes with TNXB: view

Animal Models for TNXB Gene

MGI Knock Outs for TNXB:

miRNA for TNXB Gene

miRTarBase miRNAs that target TNXB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TNXB Gene

Localization for TNXB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNXB Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNXB Gene COMPARTMENTS Subcellular localization image for TNXB gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TNXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005578 proteinaceous extracellular matrix NAS 7686164
GO:0005583 colocalizes_with fibrillar collagen trimer IDA 16278880
GO:0005615 extracellular space IDA 20551380
GO:0005622 intracellular IDA 15102077
genes like me logo Genes that share ontologies with TNXB: view

Pathways for TNXB Gene

genes like me logo Genes that share pathways with TNXB: view

Pathways by source for TNXB Gene

1 BioSystems pathway for TNXB Gene
2 Reactome pathways for TNXB Gene

Gene Ontology (GO) - Biological Process for TNXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0006631 fatty acid metabolic process IEA --
GO:0006641 triglyceride metabolic process IEA --
GO:0007155 cell adhesion ISS --
GO:0007160 cell-matrix adhesion IEA --
genes like me logo Genes that share ontologies with TNXB: view

Compounds for TNXB Gene

(4) Novoseek inferred chemical compound relationships for TNXB Gene

Compound -log(P) Hits PubMed IDs
steroid 42.3 9
fibrinogen 21.1 2
threonine 15.2 1
serine 0 1
genes like me logo Genes that share compounds with TNXB: view

Transcripts for TNXB Gene

Unigene Clusters for TNXB Gene

Tenascin XB:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TNXB Gene

No ASD Table

Relevant External Links for TNXB Gene

GeneLoc Exon Structure for
TNXB
ECgene alternative splicing isoforms for
TNXB

Expression for TNXB Gene

mRNA expression in normal human tissues for TNXB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TNXB Gene

SOURCE GeneReport for Unigene cluster for TNXB Gene Hs.485104

mRNA Expression by UniProt/SwissProt for TNXB Gene

P22105-TENX_HUMAN
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
genes like me logo Genes that share expressions with TNXB: view

No data available for mRNA differential expression in normal tissues for TNXB Gene

Orthologs for TNXB Gene

This gene was present in the common ancestor of animals.

Orthologs for TNXB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNXB 35
  • 98.5 (n)
  • 97.83 (a)
TNXB 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNXB 35
  • 74.44 (n)
  • 68.95 (a)
TNXB 36
  • 14 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNXB 35
  • 77.84 (n)
  • 74.21 (a)
TNXB 36
  • 14 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnxb 35
  • 72.2 (n)
  • 68.77 (a)
Tnxb 16
Tnxb 36
  • 18 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNXB 36
  • 12 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CDD 36
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia TNXB 36
  • 10 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12557 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tnxb 35
  • 50.5 (n)
  • 45.63 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18547 35
TNXB 36
  • 10 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sca 36
  • 13 (a)
OneToMany
sca 37
  • 38 (a)
BG:DS00180.14 37
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
ManyToMany
Species with no ortholog for TNXB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNXB Gene

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

Paralogs for TNXB Gene

Paralogs for TNXB Gene

Selected SIMAP similar genes for TNXB Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for TNXB Gene

genes like me logo Genes that share paralogs with TNXB: view

Variants for TNXB Gene

Sequence variations from dbSNP and Humsavar for TNXB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs169496 -- 32,085,206(-) ACATG(A/G)ATGAG intron-variant
rs185819 - 32,082,290(+) CCAGG(C/T)GGGGT reference, missense
rs204877 -- 32,079,659(+) TCAGA(C/G)AGTGA intron-variant
rs204878 -- 32,077,449(-) AGATT(A/T)AAAAA intron-variant
rs204879 -- 32,075,380(-) tgagg(A/G)atgca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TNXB Gene

Variant ID Type Subtype PubMed ID
dgv1928e1 CNV Complex 17122850
nsv428141 CNV Gain+Loss 18775914
dgv1929e1 CNV Complex 17122850
dgv6604n71 CNV Loss 21882294
nsv284 CNV Loss 15895083
nsv5247 CNV Loss 18451855
dgv6607n71 CNV Loss 21882294
dgv6608n71 CNV Gain 21882294
dgv6610n71 CNV Gain 21882294
dgv6612n71 CNV Loss 21882294
dgv6613n71 CNV Loss 21882294
dgv6614n71 CNV Gain 21882294
dgv6615n71 CNV Gain 21882294
dgv6616n71 CNV Gain+Loss 21882294
esv28110 CNV Gain+Loss 19812545
dgv6617n71 CNV Gain+Loss 21882294
nsv10824 CNV Gain+Loss 18304495
dgv6620n71 CNV Gain 21882294
nsv819957 CNV Loss 19587683
dgv6621n71 CNV Gain 21882294
dgv6622n71 CNV Gain+Loss 21882294
nsv884617 CNV Gain 21882294
dgv20n31 CNV Duplication 19718026
nsv884626 CNV Loss 21882294
nsv884627 CNV Loss 21882294
dgv6623n71 CNV Loss 21882294
dgv6624n71 CNV Loss 21882294
dgv6625n71 CNV Gain 21882294
nsv823507 CNV Loss 20364138
dgv6626n71 CNV Gain+Loss 21882294
dgv6627n71 CNV Gain 21882294
dgv6628n71 CNV Loss 21882294
dgv6629n71 CNV Loss 21882294
nsv884657 CNV Gain 21882294
dgv6630n71 CNV Gain+Loss 21882294
dgv6631n71 CNV Loss 21882294
nsv823508 CNV Gain 20364138
nsv884663 CNV Gain 21882294
nsv884664 CNV Gain 21882294
nsv285 CNV Loss 15895083
esv2731825 CNV Deletion 23290073
nsv884665 CNV Loss 21882294
nsv884671 CNV Gain 21882294
dgv6634n71 CNV Loss 21882294
dgv6635n71 CNV Loss 21882294
dgv6636n71 CNV Loss 21882294
nsv5248 CNV Insertion 18451855
dgv6637n71 CNV Gain 21882294
nsv884682 CNV Gain 21882294
nsv884683 CNV Loss 21882294
nsv884685 CNV Loss 21882294
dgv6638n71 CNV Loss 21882294
nsv884687 CNV Loss 21882294
nsv884688 CNV Loss 21882294
nsv10825 CNV Loss 18304495
dgv1099e199 CNV Deletion 23128226
dgv6639n71 CNV Loss 21882294
nsv830629 CNV Loss 17160897
dgv6640n71 CNV Loss 21882294
dgv6641n71 CNV Loss 21882294

Relevant External Links for TNXB Gene

HapMap Linkage Disequilibrium report
TNXB
Human Gene Mutation Database (HGMD)
TNXB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNXB Gene

Disorders for TNXB Gene

(2) OMIM Diseases for TNXB Gene (600985)

UniProtKB/Swiss-Prot

TENX_HUMAN
  • 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. {ECO:0000269 PubMed:23768946}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vesicoureteral reflux 8 (VUR8) [MIM:615963]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. {ECO:0000269 PubMed:23620400}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TNXB Gene

(11) Novoseek inferred disease relationships for TNXB Gene

Disease -log(P) Hits PubMed IDs
tnx deficiency 94.9 3
ehlers-danlos syndrome 90.7 29
ehlers-danlos syndrome, type iii 85.4 3
hypermobility syndrome 68.9 2
collagen fibril 63.6 5

Relevant External Links for TNXB

GeneTests
TNXB
GeneReviews
TNXB
Genetic Association Database (GAD)
TNXB
Human Genome Epidemiology (HuGE) Navigator
TNXB
genes like me logo Genes that share disorders with TNXB: view

Publications for TNXB Gene

  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. (PMID: 8530023) Tee M.K. … Miller W.L. (Genomics 1995) 2 3 4 23
  2. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. (PMID: 7686164) Bristow J. … Miller W.L. (J. Cell Biol. 1993) 3 4 23
  3. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (PMID: 11642233) Schalkwijk J. … Bristow J. (N. Engl. J. Med. 2001) 3 4 23
  4. Lack of a genetic association between the TNXB locus and schizophrenia in a Chinese population. (PMID: 14729256) Liu L.L. … Hemmings G.P. (Neurosci. Lett. 2004) 3 23 48
  5. Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes. (PMID: 8923003) Speek M. … Miller W.L. (Hum. Mol. Genet. 1996) 3 4 23

Products for TNXB Gene

Sources for TNXB Gene

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