TNXB Chromosome 6

Tenascin XB
268 variants 268 Health Risk

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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
RS373648872 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS373655652 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS374243353 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS374803743 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Cardiovascular phenotype
RS374865424 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Cardiovascular phenotype, Vesicoureteral reflux 8
RS374970674 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375141980 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS375984855 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376344484 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376472382 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype, Cardiovascular phenotype
RS376639281 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS376978176 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377075950 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Vesicoureteral reflux 8
RS377135340 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8, Cardiovascular phenotype
RS377384792 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377386505 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Ehlers-Danlos syndrome
RS377387902 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377480086 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS41270454 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, TNXB-related disorder
RS4959085 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, TNXB-related disorder
RS528173262 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS529485424 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Cardiovascular phenotype
RS530097220 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS530880273 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS535345246 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS536003119 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS536142838 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS542131017 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS542870641 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS544604053 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, TNXB-related disorder, Vesicoureteral reflux 8
RS545719209 Health Risk Conflicting classifications of pathogenicity TNXB-related disorder, Ehlers-Danlos syndrome due to tenascin-X deficiency, TNXB-related disorder
RS547889326 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS549209308 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS551174904 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS554433216 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS557119336 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS560124416 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS561810058 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS56345590 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, TNXB-related disorder, Vesicoureteral reflux 8
RS564894886 Health Risk Conflicting classifications of pathogenicity See cases, TNXB-related disorder, Cardiovascular phenotype
RS570402166 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS571254395 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS573721058 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS587777683 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Vesicoureteral reflux 8
RS61731831 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS61735731 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS61745355 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS61978561 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder, Cardiovascular phenotype
RS745510765 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS746237539 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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