Gene: TNXB
Alternate names for this Gene: EDS3|EDSCLL|EDSCLL1|HXBL|TENX|TN-X|TNX|TNXB1|TNXB2|TNXBS|VUR8|XB|XBS
Gene Summary: 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.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.33-p21.32
Description of this Gene: tenascin XB
Type of Gene: protein-coding
rs12153855 in
TNXB gene and
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.
PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
rs12153855 in
TNXB gene and
AIDS, PROGRESSION TO
PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.
rs12198173 in
TNXB gene and
Acquired Immunodeficiency Syndrome
PMID 19115949 2009 Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
rs1150752 in
TNXB gene and
Adenocarcinoma of lung (disorder)
PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
rs12153855 in
TNXB gene and
Age related macular degeneration
PMID 22694956 2012 Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4).
PMID 22694956 2012 Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
rs13199524 in
TNXB gene and
Arthritis, Psoriatic
PMID 30552173 2019 Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.
rs429150 in
TNXB gene and
Blood Pressure
PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
rs116298992 in
TNXB gene and
Blood Protein Measurement
PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.
PMID 29875488 2018 Genomic atlas of the human plasma proteome.
rs2856451 in
TNXB gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs185819 in
TNXB gene and
Body Height
PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.
rs2857009 in
TNXB gene and
C4 complement assay (procedure)
PMID 23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
rs144433536 in
TNXB gene and
Carcinoma of lung
PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
rs369637 in
TNXB gene and
Child Development Disorders, Pervasive
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs12153855 in
TNXB gene and
Dermatitis, Atopic
PMID 23886662 2013 A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
rs1150752 in
TNXB gene and
Diabetes Mellitus, Insulin-Dependent
PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
rs2021783 in
TNXB gene and
Diastolic blood pressure
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
rs121912575 in
TNXB gene and
Ehlers-Danlos syndrome caused by tenascin-X deficiency
PMID 23768946 2013 Compound heterozygous mutations of the TNXB gene cause primary myopathy.
PMID 15733269 2005 Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.
PMID 11642233 2001 A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
rs2856451 in
TNXB gene and
Eosinophil count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs12153855 in
TNXB gene and
HIV-1, RESISTANCE TO
PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.
PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
rs12153855 in
TNXB gene and
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.
PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
rs185819 in
TNXB gene and
Height
PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.
rs2021783 in
TNXB gene and
Hypertensive disease
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
rs1150753 in
TNXB gene and
Lupus Erythematosus, Systemic
PMID 26316170 2016 Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.
PMID 21408207 2011 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.
PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
PMID 18058064 2008 Stratified analysis also revealed that the association of SNP rs3130342 with SLE was independent of the HLA-DRB1*1501 allele that has been shown to be associated with SLE.
rs429150 in
TNXB gene and
Mean Corpuscular Volume (result)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs17421624 in
TNXB gene and
Multiple Sclerosis
PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.
PMID 20598377 2010 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.
rs1150757 in
TNXB gene and
Neuromyelitis Optica
PMID 29769526 2018 A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.
rs6937318 in
TNXB gene and
Oral Ulcer
PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.
rs3117181 in
TNXB gene and
Phospholipid measurement
PMID 21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
rs1150752 in
TNXB gene and
Rheumatoid Arthritis
PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.
PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
rs1150754 in
TNXB gene and
Schizophrenia
PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs144433536 in
TNXB gene and
Squamous cell carcinoma of lung
PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
rs12153855 in
TNXB gene and
Systemic Scleroderma
PMID 20383147 2010 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
rs185819 in
TNXB gene and
Systolic Pressure
PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
rs3130342 in
TNXB gene and
Tonometry
PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.
PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
rs17207986 in
TNXB gene and
Ulcerative Colitis
PMID 20848476 2010 Comparison of the MR-UC subjects with healthy controls confirmed the contribution of the major histocompatibility complex to severe UC (peak association: rs17207986, P = 1.4 × 10(-16)) and provided genome-wide suggestive association at the TNFSF15 (TL1A) locus (peak association: rs11554257, P = 1.4 × 10(-6)).
rs12153855 in
TNXB gene and
Vitiligo
PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.
rs2856451 in
TNXB gene and
White Blood Cell Count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs204883 in
TNXB gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.