TNXB: Tenascin XB Gene
Role in Connective Tissue Disorders and Ehlers-Danlos Syndrome
Gene Information Card
| Symbol | TNXB |
|---|---|
| Full Name | Tenascin XB |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 7148 ncbi.nlm.nih.gov/gene/7148 |
| Ensembl ID | ENSG00000168477 |
| UniProt ID | P22105 |
| OMIM ID | 600985 |
| HGNC ID | 11976 |
| Aliases | TNX, TNXB1, TNXBS, HXBL, XB, tenascin-X |
Description
The TNXB gene encodes tenascin XB, a large extracellular matrix glycoprotein involved in collagen fibril organization, wound healing, and connective tissue integrity. Mutations in TNXB are associated with Ehlers-Danlos syndrome (classic-like type) and other connective tissue disorders. The gene is located in the major histocompatibility complex (MHC) class III region on chromosome 6.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome, classic-like type | Loss-of-function mutations in TNXB lead to reduced tenascin XB, impairing collagen fibril assembly and extracellular matrix stability. | OMIM #606408; ClinVar |
| Vesicoureteral reflux | TNXB variants may contribute to altered extracellular matrix in the urinary tract, predisposing to reflux. | OMIM #600985; PubMed studies |
| Tenascin-X deficiency | Complete deficiency due to biallelic TNXB mutations causes a distinct EDS subtype with hyperelastic skin and joint hypermobility. | OMIM #606408; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 5.2 | Medium |
| Heart | 4.8 | Medium |
| Skin | 3.9 | Low |
| Lung | 3.1 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblasts | 8.1 | Primary dermal fibroblasts |
| Smooth muscle cells | 6.4 | Aortic smooth muscle |
| Endothelial cells | 4.2 | HUVEC |
| Osteoblasts | 3.7 | Primary osteoblasts |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.12174C>G (p.Tyr4058*) | Nonsense | Rare | Loss of function; associated with EDS |
| c.10364_10365del (p.Leu3455Argfs*6) | Frameshift | Rare | Loss of function; tenascin-X deficiency |
| c.8215C>T (p.Arg2739Cys) | Missense | Unknown | Likely damaging; reported in EDS patients |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause tenascin-X deficiency and Ehlers-Danlos syndrome classic-like type.
Gain of Function (GOF)
Not reported for TNXB.
Dominant Negative (DN)
Heterozygous missense variants may exert dominant-negative effects in some connective tissue phenotypes.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization | • cell adhesion |
| • collagen fibril organization | • integrin binding |
| • heparin binding |
Pathways
• ECM-receptor interaction
• Focal adhesion
• PI3K-Akt signaling pathway
Protein Summary
Tenascin XB is a 450 kDa extracellular matrix protein composed of multiple EGF-like repeats, fibronectin type III domains, and a fibrinogen-like domain. It is expressed in connective tissues and plays a critical role in collagen deposition and matrix stability. Deficiency leads to skin hyperelasticity, joint hypermobility, and tissue fragility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNXB Knockout HEK293 Cell Line | EDJ-KQ275 | Human | 7148 | Details Get a Quote |
| TNXB Knockout HCT 116 Cell Line | EDJ-KQ19691 | Human | 7148 | Details Get a Quote |
| TNXB Knockout HeLa Cell Line | EDJ-KQ19692 | Human | 7148 | Details Get a Quote |
| TNXB Knockout KYSE-30 Cell Line | EDJ-KZ57 | Human | 7148 | Details Get a Quote |
| TNXB Knockout A-549 Cell Line | EDJ-KQ63168 | Human | 7148 | Details Get a Quote |
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