TNXB Chromosome 6

Tenascin XB
268 variants 268 Health Risk

Upload your DNA to see your personal genotypes for variants in TNXB.

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
RS200519530 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS200522966 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS200523717 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS200569294 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS200708257 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS200718357 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS200771983 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201037895 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Vesicoureteral reflux 8
RS201121030 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS201123945 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201155046 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS201184519 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS201360247 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS201397168 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 3, Cardiovascular phenotype
RS201412413 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201452909 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS201510617 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS201546972 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201647307 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS201649053 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS201690494 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Vesicoureteral reflux 8
RS201703963 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder, Cardiovascular phenotype
RS201708930 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS201764050 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS201902411 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8, Cardiovascular phenotype
RS201904621 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201944713 Health Risk Conflicting classifications of pathogenicity —
RS202109631 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS202227084 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS2483565897 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS2857010 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS367661800 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS367685759 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, See cases, Ehlers-Danlos syndrome
RS367949241 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS368042869 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368339464 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS368518664 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369052118 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8, Cardiovascular phenotype
RS369288131 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS370126465 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371229076 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS371329474 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS371681556 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS372167278 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder, Cardiovascular phenotype
RS372230994 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS372387718 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, TNXB-related disorder
RS372556970 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder, Cardiovascular phenotype
RS372621686 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372983350 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS373054105 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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