TNXB - tenascin XB Gene

Also Known as XB; TNX; XBS; EDS3; HXBL; TENX; TN-X; VUR8; TNXB1; TNXB2; TNXBS; EDSCLL; EDSCLL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7148

About TNXB

Cytogenetic location: 6p21.33-p21.32 Genomic coordinates (GRCh38): 6:32,041,153-32,109,338 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 263 orthologues, 25 paralogues and is associated with 5 phenotypes. Broad expression in adrenal (RPKM 35.5), fat (RPKM 21.3) and 17 other tissues.

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. [provided by RefSeq, Jul 2008]

TNXB Products (3)

mRNA	Protein	Name
NM_001365276.2	NP_001352205.1	tenascin-X isoform 3 precursor
NM_019105.8	NP_061978.6	tenascin-X isoform 1 precursor
NM_032470.4	NP_115859.2	tenascin-X isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables collagen fibril binding	IDA IDA: Inferred from direct assay	16278880	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in collagen metabolic process	IMP IMP: Inferred from mutant phenotype	15102077	GOA
involved in elastic fiber assembly	IMP IMP: Inferred from mutant phenotype	15102077	GOA
involved in positive regulation of collagen fibril organization	IDA IDA: Inferred from direct assay	17033827	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TNXB Protein Structure

hEGF

fn3

Fibrinogen_C

0
700
1400
2100
2800
3500
4244 a.a.

Protein Preferred Names	Protein Names
tenascin-X	growth-inhibiting protein 45

TNXB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TNXB	P22105	TGFB1	Homo sapiens	P01137	Anti Bait CoIP	35443807

Cross: Cross-species interaction Intra: Intraspecies interaction

TNXB Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P81492	TN-X Antibody (YA1237)	IHC-P	Human
HY-P81492A	TN-X Antibody (YA1237)(PBS only)	IHC-P	Human

Related Diseases

Diseases	Alias
Ehlers-Danlos Syndrome, Classic-Like	Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency Tnx Deficiency Eds Due To Tnx Deficiency EDSCLL Classical-Like Eds Type 1 Classical-Like Ehlers-Danlos Syndrome Type 1 Cleds Type 1 Ehlers-Danlos Syndrome, Classic-Like, 1 Ehlers-Danlos Syndrome Classic-Like 1 Classical-Like Ehlers-Danlos Syndrome Classical-Like Eds Eds, Classic-Like Type Ehlers-Danlos Syndrome, Classic-Like Type Cleds Ehlers-Danlos Syndrome, Autosomal Recessive, Due To Tenascin X Deficiency Ehlers-Danlos Syndrome Due To Tenascin X Deficiency Tenascin-X Deficiency Ehlers-Danlos Due To Tenascin X Deficiency Ehlers-Danlos Syndrome Caused By Tenascin-X Deficiency
Vesicoureteral Reflux 8	VUR8
Familial Vesicoureteral Reflux	Familial Vur
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	21-Hydroxylase Deficiency Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency Cyp21 Deficiency Congenital Adrenal Hyperplasia 1 Cah1 Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency Classic 21-Ohd Cah 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 21 Hydroxylase Deficiency Adrenal Hyperplasia Iii 21-Ohd Cah Virilizing Adrenal Hyperplasia Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency Adrenal Hyperplasia 3 AH3 Adrenal Hyperplasia Type Iii Ah-Iii Hyperandrogenism Nonclassic Type Due To 21-Hydroxylase Deficiency
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism
Ehlers-Danlos Syndrome, Hypermobility Type	Ehlers-Danlos Syndrome, Type 3 Ehlers-Danlos Syndrome, Type Iii EDSHMB Eds Iii Benign Hypermobility Syndrome Ehlers-Danlos Syndrome Hypermobility Type Eds3 Type Iii Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 3 Es-D3
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Hypermobility Syndrome	Benign Joint Hypermobility
Hypermobile Ehlers-Danlos Syndrome	Heds Ehlers-Danlos Syndrome Type 3 Ehlers-Danlos Syndrome Hypermobility Type Hypermobile Eds Joint Hypermobility Benign Joint Hypermobility Syndrome Eds Hypermobility Type Eds Type Iii Ehlers-Danlos Syndrome Type Iii Joint Hypermobility Syndrome Eds3 Ehlers-Danlos Syndrome, Hypermobility Type Eds Iii Eds-Ht
Classic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Classic Type Classical Ehlers-Danlos Syndrome Eds, Classic Type Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome Type 2 Classical Eds Ceds Ehlers-Danlos Syndrome, Type 2
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Ureteric Orifice Cancer	Malignant Neoplasm Of Ureteric Orifice Of Urinary Bladder Malignant Tumor Of Ureteric Orifice Orifice Of The Ureter
Collagen Disease	Collagen Diseases Collagen Disorder
Stickler Syndrome, Type I	Stickler Syndrome 1 Stickler Syndrome Type 1 STL1 Aom Stickler Syndrome, Type 1 Stickler Syndrome, Vitreous Type 1 Stickler Syndrome, Membranous Vitreous Type Arthroophthalmopathy, Hereditary Progressive Arthro-Ophthalmopathy Hereditary Progressive Stickler Syndrome Membranous Vitreous Type Stickler Syndrome Type I Stickler Syndrome Vitreous Type 1
Tibialis Tendinitis
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Caspase 8 Deficiency	Autoimmune Lymphoproliferative Syndrome Type 2b Caspase-8 Deficiency Ceds Alps2b Autoimmune Lymphoproliferative Syndrome, Type Iib Alps With Recurrent Viral Infections Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections Caspase 8 Deficiency Syndrome Caspase 8 Lymphadenopathy Syndrome Autoimmune Lymphoproliferative Syndrome Type Iib Caspase Eight Deficiency State CASP8D
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Aortic Aneurysm, Familial Abdominal, 1	Abdominal Aortic Aneurysm Aortic Aneurysm, Familial Abdominal 1 Aneurysm, Abdominal Aortic AAA Aortic Aneurysm, Abdominal AAA1 Aortic Aneurysm, Familial Abdominal Aortic Aneurysm Abdominal Abdominal Aortic Aneurysms Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture Abdomen Aneurysm Abdominal Aorta Aneurysm Aneurysm Of Abdominal Aorta Aortic Abdomen Aneurysm Aaa - [Abdominal Aortic Aneurysm] Abdominal Aneurysm Abdominal Aorta Aneurysm Rupture Abdominal Aorta Aneurysm Ruptured Abdominal Aortic Aneurysm Which Has Ruptured Ruptured Aaa Abdomen Aorta Aneurysm Ruptured Abdomen Aorta Rupture Abdomen Aortic Aneurysm Rupture Abdomen Aneurysm Rupture Abdomen Aortic Aneurysm Ruptured Abdomen Aortic Rupture Abdominal Aorta Rupture Abdominal Aortic Rupture Rupture Abdomen Aorta Aneurysm Rupture Abdominal Aortic Aneurysm Ruptured Abdomen Aneurysm Ruptured Abdomen Aorta Ruptured Abdomen Aortic Ruptured Abdominal Aneurysm Ruptured Abdominal Aorta Ruptured Abdominal Aortic Ruptured Aorta Abdominalis Aneurysm False Abdomen Aorta Aneurysm Ruptured False Abdominal Aortic Aneurysm Ruptured False Abdominal Aorta Aneurysm Ruptured False Abdomen Aortic Aneurysm Ruptured
Postural Orthostatic Tachycardia Syndrome	Irritable Heart Mitral Valve Prolapse Syndrome Neurocirculatory Asthenia Orthostatic Intolerance Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orhtostatic Intolerance Postural Tachycardia Syndrome Due To Net Deficiency Soldiers Heart
Capillary Malformations, Congenital	Familial Multiple Nevi Flammei Nevi Flammei, Familial Multiple CMC Port-Wine Stain Capillary Malformations Cmal Familial Multiple Port-Wine Stains Capillary Malformation Capillary Malformations, Congenital, 1, Somatic, Mosaic Congenital Capillary Malformations Port-Wine Stain Familial Multiple Hereditary Capillary Malformations Capillary Malformations, Hereditary Capillary Malformations, Congenital, Type 1, Somatic, Mosaic Strawberry Nevus Of Skin Naevus Flammeus
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS14871	TNXB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29484	Tnxb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TNXB	VGNC	VGNC:47704
Rattus norvegicus	TNXB	RGD	RGD:1594402
Mus musculus	TNXB	MGD	MGI:1932137
Macaca mulatta	TNXB	VGNC	VGNC:99451
Bos taurus	TNXB	VGNC	VGNC:36211
Others	TNXB	NCBI