TNXB Chromosome 6
Tenascin XB
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What This Gene Does
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]
Gene Info
Gene Group
Tenascins
Locus Type
gene with protein product
Location
6p21.33-p21.32
Ensembl
ENSG00000168477
Associated Conditions (14)
Cardiovascular phenotype
Ehlers-Danlos syndrome
Vesicoureteral reflux 8
Ehlers-Danlos syndrome due to tenascin-X deficiency
See cases
TNXB-related disorder
Ovarian serous cystadenocarcinoma
type 3
Cervical cancer
Gastric cancer
Hepatocellular carcinoma
7 conditions
TNXB-related hypermobile Ehlers-Danlos syndrome
Inborn genetic diseases
Key Variants
RS1005686810
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1179322894
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS1188559992
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1195935577
Conflicting classifications of pathogenicity
Vesicoureteral reflux 8, Cardiovascular phenotype, Vesicoureteral reflux 8
Health Risk
RS121912575
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, See cases
Health Risk
RS1230512934
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1254121532
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
Health Risk
RS1304146232
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1331733789
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1340605654
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS1349800834
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1352801514
Conflicting classifications of pathogenicity
Health Risk
All Variants (268)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS775334790 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS775958640 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS777077674 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS777574450 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome |
| RS777685355 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS778207341 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS778533848 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS779059111 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS780388033 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Vesicoureteral reflux 8, Cardiovascular phenotype |
| RS780442858 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS780774341 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS781570593 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS943305771 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome |
| RS943965548 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome |
| RS965570472 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1405672269 | Health Risk | Likely pathogenic | — |
| RS1416828643 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS1489708596 | Health Risk | Likely pathogenic | — |
| RS1562847147 | Health Risk | Likely pathogenic | — |
| RS1582337456 | Health Risk | Likely pathogenic | — |
| RS1778232291 | Health Risk | Likely pathogenic | — |
| RS2151891292 | Health Risk | Likely pathogenic | Vesicoureteral reflux 8, Vesicoureteral reflux 8 |
| RS2151892548 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2151892569 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2151892576 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2151897511 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, TNXB-related disorder, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS2151900685 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2151915093 | Health Risk | Likely pathogenic | Vesicoureteral reflux 8, Vesicoureteral reflux 8 |
| RS2151921014 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2483359338 | Health Risk | Likely pathogenic | — |
| RS2483364598 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS2483772174 | Health Risk | Likely pathogenic | Vesicoureteral reflux 8, Vesicoureteral reflux 8 |
| RS34629684 | Health Risk | Likely pathogenic | TNXB-related disorder, TNXB-related disorder |
| RS755541448 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8 |
| RS759259512 | Health Risk | Likely pathogenic | — |
| RS759929653 | Health Risk | Likely pathogenic | Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8 |
| RS761635725 | Health Risk | Likely pathogenic | Vesicoureteral reflux 8, Vesicoureteral reflux 8 |
| RS773500008 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome |
| RS144556766 | Health Risk | Pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS1562851618 | Health Risk | Pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS1778646780 | Health Risk | Pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS1780315559 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2151900298 | Health Risk | Pathogenic | Vesicoureteral reflux 8, Vesicoureteral reflux 8 |
| RS2151907055 | Health Risk | Pathogenic | — |
| RS2483415527 | Health Risk | Pathogenic | — |
| RS2483424286 | Health Risk | Pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS2483454633 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2483604684 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2483701960 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS587777682 | Health Risk | Pathogenic | Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |