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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
226949562012Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.38
236204002013TNXB mutations can cause vesicoureteral reflux.24
174539112007Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition.20
172023122007Microarray-based identification of tenascin C and tenascin XB, genes possibly involved in tumorigenesis associated with neurofibromatosis type 1.19
191169232009Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci.19
232840092013Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.19

Citation

Dessen P

TNXB (tenascin XB)

Atlas Genet Cytogenet Oncol Haematol. 2008-03-01

Online version: http://atlasgeneticsoncology.org/gene/50052/tnxb