TNXB Gene (Protein Coding)

Tenascin XB

GC06M044755
GIFtS:
44
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... See more...

Aliases for TNXB Gene

Aliases for TNXB Gene

  • Tenascin XB 2 3 5
  • XB 2 3 4
  • Hexabrachion-Like Protein 3 4
  • Tenascin-X 3 4
  • TNXB1 3 4
  • TNXB2 3 4
  • TNXBS 2 3
  • HXBL 3 4
  • TN-X 3 4
  • TNX 3 4
  • XBS 2 3
  • Growth-Inhibiting Protein 45 3
  • Tenascin XB1 3
  • Tenascin XB2 3
  • EDSCLL1 3
  • EDSCLL 3
  • EDS3 3
  • TENX 3
  • VUR8 3
  • TNXB 5

External Ids for TNXB Gene

Previous HGNC Symbols for TNXB Gene

  • TNXB1
  • TNXB2

Previous GeneCards Identifiers for TNXB Gene

  • GC06M032037
  • GC06M031779
  • GC06M032080
  • GC06M032085
  • GC06M032116
  • GC06M032087
  • GC06M032089
  • GC06M032091
  • GC06M032093
  • GC06M032095
  • GC06M032097
  • GC06M031976
  • GC06M032008
  • GC06M032042
  • GC06M032112
  • GC06M032177
  • GC06M032232
  • GC06M032383
  • GC06M032044
  • GC06M032636
  • GC06M033050

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 Ehlers-Danlos Syndrome, Classic-Like and Vesicoureteral Reflux 8. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. Gene Ontology (GO) annotations related to this gene include heparin binding and collagen binding. An important paralog of this gene is TNC.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TNXB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNXB Gene

Genomics for TNXB Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TNXB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNXB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNXB

Top Transcription factor binding sites by QIAGEN in the TNXB gene promoter:
  • AP-1
  • Bach2
  • COMP1
  • HOXA5
  • Lmo2
  • Sp1

Genomic Locations for TNXB Gene

Latest Assembly
chr6:32,041,153-32,115,334
(GRCh38/hg38)
Size:
74,182 bases
Orientation:
Minus strand

Previous Assembly
chr6:32,008,930-32,077,115
(GRCh37/hg19 by Entrez Gene)
Size:
68,186 bases
Orientation:
Minus strand

chr6:32,008,931-32,083,111
(GRCh37/hg19 by Ensembl)
Size:
74,181 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_1):3,406,268-3,418,727 (-)
  • chr6(ALT_REF_LOCI_2):3,479,475-3,547,671 (-)
  • chr6(ALT_REF_LOCI_3):3,282,561-3,350,704 (-)
  • chr6(ALT_REF_LOCI_4):3,369,799-3,403,209 (-)
  • chr6(ALT_REF_LOCI_5):3,383,186-3,451,358 (-)
  • chr6(ALT_REF_LOCI_6):3,264,388-3,309,331 (-)
  • chr6(ALT_REF_LOCI_7):3,342,340-3,369,633 (-)

Genomic View for TNXB Gene

Genes around TNXB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNXB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNXB Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

Proteins for TNXB Gene

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  • 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:
    4244 amino acids
    Molecular mass:
    458388 Da
    Quaternary structure:
    • Homotrimer. Interacts with type I, III and V collagens and tropoelastin via its 29th fibronectin type-III domain.
    SequenceCaution:
    • Sequence=AAB47488.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB67981.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAB89296.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: May be due to competing acceptor splice site in exon 24.
    • [Isoform 5]: May be due to competing donor splice site in exon 1.

    Three dimensional structures from OCA and Proteopedia for TNXB Gene

    Alternative splice isoforms for TNXB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNXB Gene

Protein Expression for TNXB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TNXB Gene

  • Glycosylation at Asn31, Asn3855, Asn3908, Asn3920, and Asn4095
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for TNXB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for TNXB Gene

Domains & Families for TNXB Gene

Gene Families for TNXB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TNXB Gene

InterPro:
Blocks:
  • Laminin-type EGF-like domain
  • Type I EGF
  • Fibrinogen, beta/gamma chain, C-terminal globular

Suggested Antigen Peptide Sequences for TNXB Gene

GenScript: Design optimal peptide antigens:
  • Tenascin XB (A2BHY8_HUMAN)
  • Tenascin XB (B0V2C0_HUMAN)
  • Tenascin-X (O95680_HUMAN)
  • Tenascin-X (O95681_HUMAN)
  • Tenascin-X (O95682_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22105

UniProtKB/Swiss-Prot:

TENX_HUMAN :
  • Belongs to the tenascin family.
Family:
  • Belongs to the tenascin family.
genes like me logo Genes that share domains with TNXB: view

Function for TNXB Gene

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  6. Cell Lines for research

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.

Phenotypes From GWAS Catalog for TNXB Gene

Gene Ontology (GO) - Molecular Function for TNXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding ISS --
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005515 protein binding IEA,IPI 21516116
GO:0005518 collagen binding IEA --
GO:0008201 heparin binding ISS --
genes like me logo Genes that share ontologies with TNXB: view
genes like me logo Genes that share phenotypes with TNXB: view

Human Phenotype Ontology for TNXB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNXB Gene

MGI Knock Outs for TNXB:
  • Tnxb Tnxb<tm1b(EUCOMM)Hmgu>
  • Tnxb Tnxb<tm1Kmat>
  • Tnxb Tnxb<tm1Jbrs>

Animal Models for research

miRNA for TNXB Gene

miRTarBase miRNAs that target TNXB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNXB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNXB gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
peroxisome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for TNXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA 27068509
GO:0005615 extracellular space HDA 20551380
GO:0031012 extracellular matrix NAS 7686164
GO:0062023 colocalizes_with collagen-containing extracellular matrix IEA,ISS 22261194
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with TNXB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TNXB Gene

Pathways & Interactions for TNXB Gene

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

Gene Ontology (GO) - Biological Process for TNXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
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

No data available for SIGNOR curated interactions for TNXB Gene

Drugs & Compounds for TNXB Gene

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(2) Drugs for TNXB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for TNXB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNXB: view

Transcripts for TNXB Gene

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mRNA/cDNA for TNXB Gene

3 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNXB

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

No ASD Table

Relevant External Links for TNXB Gene

GeneLoc Exon Structure for
TNXB

Expression for TNXB Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNXB Gene

mRNA expression in normal human tissues for TNXB Gene
mRNA expression by GTEx for TNXB GenemRNA expression by BioGPS for TNXB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TNXB Gene

This gene is overexpressed in Uterus (10.3) and Serum (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNXB Gene



Protein tissue co-expression partners for TNXB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNXB

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.

Evidence on tissue expression from TISSUES for TNXB Gene

  • Adrenal gland(4.7)
  • Liver(4.5)
  • Blood(4.4)
  • Nervous system(4.4)
  • Bone marrow(4.2)
  • Intestine(2.9)
  • Heart(2.9)
  • Lung(2.9)
  • Gall bladder(2.3)
  • Pancreas(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNXB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TNXB: view

Primer products for research

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 29 30
  • 98.5 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TNXB 29 30
  • 77.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TNXB 29 30
  • 74.44 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tnxb 29 16 30
  • 72.2 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 29 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia TNXB 30
  • 12 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CDD 30
  • 24 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia TNXB 30
  • 10 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tnxb 29
  • 50.5 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.12557 29
Zebrafish
(Danio rerio)
 Actinopterygii TNXB 30
  • 10 (a)
 OneToOne
Dr.18547 29
Fruit Fly
(Drosophila melanogaster)
 Insecta BG:DS00180.14 31
  • 27 (a)
sca 30 31
  • 13 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 27 (a)
 ManyToMany
Species where no ortholog for TNXB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TNXB: view image
Alliance of Genome Resources:
Additional Orthologs for TNXB

Paralogs for TNXB Gene

Paralogs for TNXB Gene

(17) SIMAP similar genes for TNXB Gene using alignment to 4 proteins:

  • TENX_HUMAN
  • C9J7W4_HUMAN
  • E7EPZ9_HUMAN
  • Q6IPK3_HUMAN

Pseudogenes.org Pseudogenes for TNXB Gene

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

Variants for TNXB Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNXB Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1012765 Likely Benign: not provided 32,084,621(-) G/A
NM_001365276.2(TNXB):c.3237C>T (p.Leu1079=) 		SYNONYMOUS
1012766 Uncertain Significance: not provided 32,089,348(-) C/T
NM_001365276.2(TNXB):c.2390G>A (p.Arg797Gln) 		MISSENSE
1012767 Uncertain Significance: not provided 32,096,147(-) C/T
NM_001365276.2(TNXB):c.1706G>A (p.Cys569Tyr) 		MISSENSE
1013498 Uncertain Significance: not provided 32,043,844(-) A/G
NM_001365276.2(TNXB):c.11435T>C (p.Leu3812Pro) 		MISSENSE
1013499 Uncertain Significance: not provided 32,049,443(-) G/A
NM_001365276.2(TNXB):c.9584C>T (p.Ser3195Phe) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TNXB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10466n54 CNV loss 21841781
dgv10468n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
dgv10474n54 CNV gain 21841781
dgv10475n54 CNV loss 21841781
dgv10476n54 CNV loss 21841781
dgv10477n54 CNV loss 21841781
dgv10478n54 CNV loss 21841781
dgv10479n54 CNV loss 21841781
dgv10482n54 CNV loss 21841781
dgv1099e199 CNV deletion 23128226
dgv20n31 CNV gain 19718026
esv2731825 CNV deletion 23290073
esv2759415 CNV gain+loss 17122850
esv28110 CNV gain+loss 19812545
esv3350929 CNV duplication 20981092
esv3370311 CNV duplication 20981092
esv3413736 CNV duplication 20981092
esv3423416 CNV duplication 20981092
esv3608575 CNV loss 21293372
esv3608576 CNV loss 21293372
esv3890824 CNV loss 25118596
esv3890825 CNV loss 25118596
esv3890827 CNV gain+loss 25118596
nsv1020992 CNV gain 25217958
nsv1028506 CNV gain 25217958
nsv1073969 CNV deletion 25765185
nsv10824 CNV gain+loss 18304495
nsv10825 CNV loss 18304495
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv284 CNV deletion 15895083
nsv285 CNV deletion 15895083
nsv428141 CNV gain+loss 18775914
nsv5247 CNV deletion 18451855
nsv5248 CNV insertion 18451855
nsv601971 CNV gain 21841781
nsv602045 CNV gain 21841781
nsv602050 CNV loss 21841781
nsv602051 CNV loss 21841781
nsv602056 CNV loss 21841781
nsv602072 CNV loss 21841781
nsv602098 CNV gain 21841781
nsv602100 CNV loss 21841781
nsv602101 CNV loss 21841781
nsv602102 CNV gain 21841781
nsv602103 CNV loss 21841781
nsv602104 CNV loss 21841781
nsv819957 CNV loss 19587683
nsv823507 CNV loss 20364138
nsv823508 CNV gain 20364138
nsv830629 CNV loss 17160897
nsv950155 CNV deletion 24416366
nsv969381 CNV duplication 23825009
nsv981129 CNV duplication 23825009

Variation tolerance for TNXB Gene

Gene Damage Index Score: 28.29; 99.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNXB Gene

Human Gene Mutation Database (HGMD)
TNXB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNXB
Leiden Open Variation Database (LOVD)
TNXB

SNP Genotyping and Copy Number Assays for research

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

Disorders for TNXB Gene

MalaCards: The human disease database

(23) MalaCards diseases for TNXB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TNXB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TENX_HUMAN
  • Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive. {ECO:0000269 PubMed:11642233, ECO:0000269 PubMed:15733269, ECO:0000269 PubMed:23768946}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for TNXB

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Publications for TNXB Gene

  1. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (PMID: 11642233) Schalkwijk J ā€¦ Bristow J (The New England journal of medicine 2001) 3 4 22 72
  2. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. (PMID: 9288108) Burch GH ā€¦ Bristow J (Nature genetics 1997) 3 22 40 72
  3. 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 MK ā€¦ Miller WL (Genomics 1995) 2 3 4 22
  4. TNXB mutations can cause vesicoureteral reflux. (PMID: 23620400) Gbadegesin RA ā€¦ Winn MP (Journal of the American Society of Nephrology : JASN 2013) 3 4 72
  5. Interactions of human tenascin-X domains with dermal extracellular matrix molecules. (PMID: 17033827) Egging D ā€¦ Schalkwijk J (Archives of dermatological research 2007) 3 4 22

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