TNXB (tenascin XB)

2008-03-01  

Identity

HGNC
TNXB
LOCATION
6p21.33
LOCUSID
7148
ALIAS
EDS3,EDSCLL,EDSCLL1,HXBL,TENX,TN-X,TNX,TNXB1,TNXB2,TNXBS,VUR8,XB,XBS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7148
MIM: 600985
HGNC: 11976
Ensembl: ENSG00000168477

Variants:

dbSNP: 7148
ClinVar: 7148
TCGA: ENSG00000168477
COSMIC: TNXB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168477ENST00000375244P22105
ENSG00000168477ENST00000442721A0A1B0GX77
ENSG00000168477ENST00000451343P22105
ENSG00000168477ENST00000479795C9J7W4
ENSG00000168477ENST00000611016A0A087X0I0
ENSG00000168477ENST00000613214A0A087WWA5
ENSG00000168477ENST00000644971P22105
ENSG00000168477ENST00000647633A0A3B3ISX9

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178

References

Pubmed IDYearTitleCitations
362594522023Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.0
372099682023Tenascins and osteopontin in biological response in cornea.1
362594522023Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.0
372099682023Tenascins and osteopontin in biological response in cornea.1
333327432021A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.8
333327432021A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.8
320562832020A functional variant in TNXB promoter associates with the risk of esophageal squamous-cell carcinoma.3
326065672020Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma.3
320562832020A functional variant in TNXB promoter associates with the risk of esophageal squamous-cell carcinoma.3
326065672020Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma.3
302774952019Tenascin-X in amniotic fluid and reproductive tissues of pregnancies complicated by infection and preterm prelabor rupture of membranes†.2
306052282019A novel role for the extracellular matrix glycoprotein-Tenascin-X in gastric function.12
306423962019Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.24
307119382019Tenascin XB Is a Novel Diagnostic Marker for Malignant Mesothelioma.7
302774952019Tenascin-X in amniotic fluid and reproductive tissues of pregnancies complicated by infection and preterm prelabor rupture of membranes†.2

Citation

Dessen P

TNXB (tenascin XB)

Atlas Genet Cytogenet Oncol Haematol. 2008-03-01

Online version: http://atlasgeneticsoncology.org/gene/50052/tumors-explorer/