Entity Details

Primary name TNXB
Entity type gene
Source Source Link

Details

PrimaryID7148
RefseqGeneNG_008337
SymbolTNXB
Nametenascin XB
Chromosome6
Location6p21.33-p21.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTENX_HUMAN

GO terms

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GOName
GO:0005178 integrin binding
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0007155 cell adhesion
GO:0008201 heparin binding
GO:0030036 actin cytoskeleton organization
GO:0030199 collagen fibril organization
GO:0031012 extracellular matrix
GO:0032963 collagen metabolic process
GO:0048251 elastic fiber assembly
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0098633 collagen fibril binding

Diseases

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Disease IDSourceNameDescription
615963 OMIMVesicoureteral reflux 8 (VUR8)A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry.
606408 OMIMEhlers-Danlos syndrome, classic-like (EDSCLL)A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

14 interactions