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
RS1005686810 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1179322894 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS1188559992 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1195935577 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Cardiovascular phenotype, Vesicoureteral reflux 8
RS121912575 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, See cases
RS1230512934 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1254121532 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
RS1304146232 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1331733789 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1340605654 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS1349800834 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1352801514 Health Risk Conflicting classifications of pathogenicity —
RS138771398 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS138850364 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS139154852 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140160519 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS140304758 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Vesicoureteral reflux 8
RS1406340228 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Cardiovascular phenotype
RS140665128 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS141190850 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Ehlers-Danlos syndrome
RS142409885 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS1437182181 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS148556332 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1582373258 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1777360602 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1780417131 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS181699780 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Vesicoureteral reflux 8
RS182362312 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS183760368 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS185207099 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS188124424 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS188789382 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS189416175 Health Risk Conflicting classifications of pathogenicity TNXB-related disorder, Cardiovascular phenotype, TNXB-related disorder
RS199623625 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS199688928 Health Risk Conflicting classifications of pathogenicity See cases, Ovarian serous cystadenocarcinoma, See cases
RS199705832 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS199719197 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS199953230 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS200111122 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200125936 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS200191925 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200226242 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200233352 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200282568 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS200283439 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200319996 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome, Vesicoureteral reflux 8
RS200322894 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200369087 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS200416489 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS200432719 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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