TNXB tenascin XB
Gene ID: 7148, updated on 26-Sep-2024Gene type: protein coding
Also known as: XB; TNX; XBS; EDS3; HXBL; TENX; TN-X; VUR8; TNXB1; TNXB2; TNXBS; EDSCLL; EDSCLL1
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- Go to complete Gene record for TNXB
- Go to Variation Viewer for TNXB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. GeneReviews: Not available | |
| Common genetic variation and the control of HIV-1 in humans. GeneReviews: Not available | |
| Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. GeneReviews: Not available | |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | See labs |
| Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
| Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. GeneReviews: Not available | |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. GeneReviews: Not available | |
| Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. GeneReviews: Not available | |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. GeneReviews: Not available | |
| Vesicoureteral reflux 8 | See labs |
Genomic context
- Location:
- 6p21.33-p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (32041153..32109338, complement)
- Total number of exons:
- 45
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TNXB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Ehlers Danlos Syndrome Variant Database (TNXB)
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TNXB homepage - LOVD - Australian Human Variome Project
- Variation ViewerRelated Variants
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