1. Gene
  2. TNXB - tenascin XB Gene

TNXB - tenascin XB Gene

中文名称:生腱蛋白 XB

种属: Homo sapiens

同用名: XB; TNX; XBS; EDS3; HXBL; TENX; TN-X; VUR8; TNXB1; TNXB2; TNXBS; EDSCLL; EDSCLL1

基因 ID: 7148 | 基因类型: protein coding

关于 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.

功能概要

该基因编码细胞外基质糖蛋白生腱蛋白家族的成员。肌腱蛋白具有抗粘附作用,与粘附的纤连蛋白相反。这种蛋白质被认为在伤口愈合过程中的基质成熟中发挥作用,它的缺乏与结缔组织疾病埃勒斯-当洛斯综合征有关。该基因定位于 6 号染色体上的主要组织相容性复合体 (MHC) III 类区域。它是该簇中已复制的四个基因之一。该基因的复制副本是不完整的,是一个被转录但不编码蛋白质的假基因。该基因的结构不同寻常,因为它在 5' 和 3' 末端分别与 CREBL1 和 CYP21A2 基因重叠。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables collagen fibril binding IDA
IDA: 通过直接分析推断
16278880 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in collagen metabolic process IMP
IMP: 通过突变表型推断
15102077 GOA
involved in elastic fiber assembly IMP
IMP: 通过突变表型推断
15102077 GOA
involved in positive regulation of collagen fibril organization IDA
IDA: 通过直接分析推断
17033827 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TNXB 蛋白结构

hEGF

hEGF: Human growth factor-like EGF (232 - 244)

hEGF

hEGF: Human growth factor-like EGF (264 - 275)

hEGF

hEGF: Human growth factor-like EGF (295 - 306)

hEGF

hEGF: Human growth factor-like EGF (326 - 337)

hEGF

hEGF: Human growth factor-like EGF (449 - 461)

hEGF

hEGF: Human growth factor-like EGF (512 - 523)

hEGF

hEGF: Human growth factor-like EGF (542 - 554)

fn3

fn3: Fibronectin type III domain (755 - 829)

fn3

fn3: Fibronectin type III domain (842 - 914)

fn3

fn3: Fibronectin type III domain (1066 - 1135)

fn3

fn3: Fibronectin type III domain (1163 - 1233)

fn3

fn3: Fibronectin type III domain (1266 - 1342)

fn3

fn3: Fibronectin type III domain (1377 - 1446)

fn3

fn3: Fibronectin type III domain (1478 - 1548)

fn3

fn3: Fibronectin type III domain (1581 - 1645)

fn3

fn3: Fibronectin type III domain (1679 - 1743)

fn3

fn3: Fibronectin type III domain (1781 - 1847)

fn3

fn3: Fibronectin type III domain (1885 - 1955)

fn3

fn3: Fibronectin type III domain (1991 - 2061)

fn3

fn3: Fibronectin type III domain (2100 - 2169)

fn3

fn3: Fibronectin type III domain (2199 - 2269)

fn3

fn3: Fibronectin type III domain (2307 - 2378)

fn3

fn3: Fibronectin type III domain (2416 - 2485)

fn3

fn3: Fibronectin type III domain (2527 - 2596)

fn3

fn3: Fibronectin type III domain (2632 - 2707)

fn3

fn3: Fibronectin type III domain (2741 - 2810)

fn3

fn3: Fibronectin type III domain (2848 - 2923)

fn3

fn3: Fibronectin type III domain (2957 - 3026)

fn3

fn3: Fibronectin type III domain (3064 - 3135)

fn3

fn3: Fibronectin type III domain (3171 - 3240)

fn3

fn3: Fibronectin type III domain (3266 - 3331)

fn3

fn3: Fibronectin type III domain (3359 - 3433)

fn3

fn3: Fibronectin type III domain (3453 - 3519)

fn3

fn3: Fibronectin type III domain (3562 - 3630)

fn3

fn3: Fibronectin type III domain (3659 - 3737)

fn3

fn3: Fibronectin type III domain (3758 - 3833)

fn3

fn3: Fibronectin type III domain (3847 - 3920)

fn3

fn3: Fibronectin type III domain (3935 - 4007)

Fibrinogen_C

Fibrinogen_C: Fibrinogen beta and gamma chains, C-terminal globular domain (4027 - 4234)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4244 a.a.
蛋白主名 其他名称

tenascin-X

growth-inhibiting protein 45

TNXB 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TNXB P22105 TGFB1 Homo sapiens P01137
Anti Bait CoIP
35443807
种属间: 跨种属相互作用 种属内: 同种属相互作用

TNXB 抗体

目录号 产品名 应用 反应物种
HY-P81492 TN-X Antibody (YA1237) IHC-P Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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