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  2. TGFBI - transforming growth factor beta induced Gene

TGFBI - transforming growth factor beta induced Gene

中文名称:转化生长因子β诱导

种属: Homo sapiens

同用名: CSD; CDB1; CDG2; CSD1; CSD2; CSD3; EBMD; LCD1; BIGH3; CDGG1

基因 ID: 7045 | 基因类型: protein coding

关于 TGFBI

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:136,028,988-136,063,818 (from NCBI)

This gene has 15 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 18 phenotypes. Broad expression in placenta (RPKM 227.8), skin (RPKM 133.2) and 19 other tissues.

功能概要

该基因编码一种含有 RGD 的蛋白质,可与 I、II 和 IV 型胶原蛋白结合。 RGD 基序存在于许多调节细胞粘附的细胞外基质蛋白中,并作为几种整合素的配体识别序列。这种蛋白质在细胞-胶原相互作用中发挥作用,并可能参与软骨中的软骨内骨形成。该蛋白质由转化生长因子-β 诱导,并起到抑制细胞粘附的作用。该基因的突变与多种类型的角膜营养不良有关。[RefSeq 提供,2008 年 7 月]

This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]

TGFBI 基因产物(1)

mRNA Protein Name
NM_000358.3 NP_000349.1 transforming growth factor-beta-induced protein ig-h3 precursor

TGFBI 蛋白结构

Fasciclin

Fasciclin: Fasciclin domain (123 - 236)

Fasciclin

Fasciclin: Fasciclin domain (252 - 373)

Fasciclin

Fasciclin: Fasciclin domain (387 - 500)

Fasciclin

Fasciclin: Fasciclin domain (514 - 634)

  • 0
  • 200
  • 400
  • 600
  • 683 a.a.
蛋白主名 其他名称

transforming growth factor-beta-induced protein ig-h3

RGD-CAP

重组 TGFBI 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74525 TGFBI Protein, Human (HEK293, His, solution) Q15582 (G24-H683) ≥95%

关联疾病

疾病名称 别名
Corneal Dystrophy, Groenouw Type I

CDGG1

Gcd1

Groenouw Corneal Dystrophy Type I

Granular Corneal Dystrophy 1

Granular Corneal Dystrophy Type I

Corneal Dystrophy Groenouw Type I

Granular Corneal Dystrophy, Type I

Corneal Dystrophy, Punctate Or Nodular

Groenouw Type I Corneal Dystrophy

Corneal Dystrophy Granular Type

Corneal Dystrophy Punctate Or Nodular

Classic Gcd

Classic Granular Corneal Dystrophy

Gcdi

Granular Corneal Dystrophy Type 1

Corneal Dystrophy, Groenouw Type 1

Mesh

D003317

Punctate Or Nodular Corneal Dystrophy

Dystrophy, Corneal, Groenouw Type I

Corneal Dystrophy, Thiel-Behnke Type

Thiel-Behnke Corneal Dystrophy

Tbcd

CDTB

Cdb2

Corneal Dystrophy Of Bowman Layer Type Ii

Anterior Limiting Membrane Dystrophy Type Ii

Waardenburg-Jonker Corneal Dystrophy

Corneal Dystrophy Of Bowman Layer, Type Ii

Corneal Dystrophy, Honeycomb-Shaped

Corneal Dystrophy Honeycomb-Shaped

Corneal Dystrophy Thiel Behnke Type

Corneal Dystrophy Honeycomb Shaped

Corneal Dystrophy Of The Bowman Layer Type 2

Thiel Behnke Corneal Dystrophy

Anterior Limiting Membrane Dystrophy Type 2

Corneal Dystrophy Of Bowman Layer Type 2

Curly Fiber Corneal Dystrophy

Honeycomb Corneal Dystrophy

Honeycomb-Shaped Corneal Dystrophy

Dystrophy, Corneal, Thiel-Behnke Type

Corneal Dystrophy, Lattice Type I

Lattice Corneal Dystrophy Type I

Lcd1

CDL1

Lcd

Lattice Corneal Dystrophy Type 1

Corneal Dystrophy, Lattice Type 1

Biber-Haab-Dimmer Dystrophy

Lattice Corneal Dystrophy, Type I

Classic Lattice Corneal Dystrophy

Lcdi

Corneal Dystrophy Lattice Type I

Dystrophy, Corneal, Lattice Type I

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy

CDA

Combined Granular-Lattice Corneal Dystrophy

Cgd2

Granular Corneal Dystrophy Type 2

Acd

Granular Corneal Dystrophy 2

Corneal Dystrophy Avellino Type

Granular Corneal Dystrophy Type Ii

Granular Corneal Dystrophy, Type Ii

Combined Granular-Lattice Corneal Dystrophies

Granular And Lattice Corneal Dystrophies

Granular-Lattice Corneal Dystrophy

Gcd2

Gcdii

Granular-Lattice Corneal Dystrophy

Corneal Dystrophy, Reis-Bucklers Type

Reis-Bucklers Corneal Dystrophy

Rbcd

CDRB

Cdb1

Corneal Dystrophy Of Bowman Layer Type I

Geographic Corneal Dystrophy

Granular Corneal Dystrophy Type Iii

Reis-Bucklers' Corneal Dystrophy

Anterior Limiting Membrane Dystrophy Type I

Corneal Dystrophy Of Bowman Layer Type 1

Corneal Dystrophy Of Bowman Layer, Type I

Corneal Dystrophy, Geographic

Granular Corneal Dystrophy, Type Iii

Corneal Dystrophy Reis Bucklers Type

Corneal Dystrophy Geographic

Reis Bucklers Corneal Dystrophy

Reis Bucklers Dystrophy

Anterior Limiting Membrane Dystrophy Type 1

Atypical Granular Corneal Dystrophy

Granular Corneal Dystrophy Type 3

Superficial Granular Corneal Dystrophy

Corneal Dystrophy Of Bowman Layer, Type 1

Dystrophy, Corneal, Reis-Bucklers Type

Corneal Dystrophy, Lattice Type Iiia

Corneal Dystrophy, Lattice Type 3a

CDL3A

Lattice Corneal Dystrophy, Type Iiia

Lattice Corneal Dystrophy Type 3a

Lattice Corneal Dystrophy Type Iii A

Lattice Corneal Dystrophy Type Iiia

Dystrophy, Corneal, Lattice Type Iiia

Corneal Dystrophy, Epithelial Basement Membrane

Cogan Corneal Dystrophy

EBMD

Corneal Dystrophy, Anterior Basement Membrane

Corneal Dystrophy, Microcystic

Corneal Dystrophy, Map-Dot-Fingerprint Type

Epithelial Basement Membrane Corneal Dystrophy

Map-Dot-Fingerprint Dystrophy Of Cornea

Microcystic Dystrophy Of The Cornea

Anterior Basement Membrane Corneal Dystrophy

Map-Dot-Fingerprint Type Corneal Dystrophy

Microcystic Corneal Dystrophy

Dystrophy, Corneal, Epithelial Basement Membrane

Microscopic Cystic Corneal Dystrophy

Epithelial Basement Membrane Dystrophy

Ebmd

Corneal Dystrophy, Epithelial Basement Membrane

Cogan Corneal Dystrophy

Microcystic Corneal Dystrophy

Anterior Basement Membrane Dystrophy

Cogan Microcystic Epithelial Dystrophy

Map-Dot-Fingerprint Dystrophy

Microscopic Cystic Corneal Dystrophy

Granular Corneal Dystrophy

Granular Dystrophy Corneal

Corneal Dystrophies, Hereditary

Hereditary Corneal Dystrophy

Corneal Dystrophy Nos

Familial Hereditary Corneal Degeneration

Hereditary Corneal Opacity

Corneal Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Corneal Disease

Corneal Diseases

Corneal Disorders

Stromal Corneal Dystrophy

Stromal Dystrophies Corneal

Corneal Deposit

Deposits - Cornea

Recurrent Corneal Erosion

Recurrent Erosion Of Cornea

Recurrent Erosion Syndrome

Corneal Erosion

Non-Traumatic Recurrent Erosion Of Cornea

Corneal Dystrophy, Gelatinous Drop-Like

Gelatinous Drop-Like Corneal Dystrophy

GDLD

Cdgdl

Corneal Amyloidosis

Lattice Corneal Dystrophy Type Iii

Amyloidosis, Corneal

Amyloid Corneal Dystrophy, Japanese Type

Gdcd

Primary Familial Amyloidosis Of The Cornea

Subepithelial Amyloidosis Of The Cornea

Corneal Dystrophy, Lattice Type 3

Corneal Dystrophy, Lattice Type Iii

Lattice Corneal Dystrophy, Type Iii

Amyloidosis Corneal

Lattice Corneal Dystrophy Type3

Amyloid Corneal Dystrophy Japanese Type

Dystrophy, Corneal, Gelatinous Drop-Like

Amyloid Of Cornea

Epithelial-Stromal Tgfbi Dystrophy
Amyloidosis

Amyloid Disease

Amyloid

Amyloid Degeneration

Amyloidosis Nos

Amyloid Deposition

Amyloid Infiltration

Idiopathic Amyloidosis

Hyaloid Degeneration

Lardaceous Degeneration

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea

Chandler Syndrome

CHED

Chandler'S Syndrome

Endothelial Corneal Dystrophy

Ched2

Maumenee Corneal Dystrophy

Corneal Dystrophy, Congenital Hereditary Endothelial

Dystrophy Of Corneal Endothelium

Corneal Endothelial Dystrophy 2

Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

Ched2, Formerly

Corneal Endothelial Dystrophy, Autosomal Recessive

Endothelial Dystrophy

Posterior Membrane Corneal Dystrophy

Corneal Endothelial Dystrophy Type 2

Congenital Hereditary Endothelial Dystrophy Of The Cornea

Congenital Hereditary Endothelial Dystrophy Type Ii

Autosomal Recessive Ched

Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

Chedii

Congenital Hereditary Endothelial Dystrophy Type 2

Infantile Hereditary Endothelial Dystrophy

Congenital Hereditary Endothelial Corneal Dystrophy

Corneal Endothelial Dystrophy 2, Autosomal Recessive

Iridocorneal Endothelial Syndrome

Dystrophy, Corneal, Endothelial

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Epithelial And Subepithelial Dystrophy
Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1

Conjunctival Vascular Disease

Vascular Abnormalities Of Conjunctiva

Conjunctival Vascular Abnormality

Vascular Abnormality Of Conjunctiva

Corneal Dystrophy, Meesmann, 1

Meesmann Corneal Dystrophy

Mecd

Corneal Dystrophy, Meesmann Epithelial

Juvenile Hereditary Epithelial Dystrophy

Corneal Dystrophy, Juvenile Epithelial Of Meesmann

MECD1

Meesmann Corneal Dystrophy 1

Meesmann Corneal Epithelial Dystrophy

Meesmann Epithelial Corneal Dystrophy

Corneal Dystrophy, Juvenile Epithelial, Of Meesmann

Stocker-Holt Dystrophy

Meesman Dystrophy

Meesman'S Corneal Dystrophy

Juvenile Hereditary Epithelial Dystrophy Of Meesmann

Corneal Dystrophy, Meesmann 1

Juvenile Epithelial Corneal Dystrophy Of Meesmann

Mcd

Dystrophy, Corneal, Meesmann

Corneal Degeneration

Degenerative Corneal Opacity

Macular Dystrophy, Corneal

Macular Corneal Dystrophy

MCD

Corneal Dystrophy, Macular Type

Groenouw Type Ii Corneal Dystrophy

Fehr Corneal Dystrophy

Macular Dystrophy, Corneal Type 1

Mcdc1

Macular Corneal Dystrophy Type Ii

Macular Corneal Dystrophy, Type Ii

Macular Corneal Dystrophy, Type I

Mcdc1, Formerly

Macular Dystrophy, Corneal, 1

Macular Corneal Dystrophy Type 1

Corneal Dystrophy Groenouw Type Ii

Corneal Dystrophy Macular Type

Macular Corneal Dystrophy Type I

Dystrophy, Macular, Corneal

Stromal Dystrophy
Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Irregular Astigmatism
Interstitial Keratitis
Epithelial Recurrent Erosion Dystrophy

ERED

Corneal Erosions, Recurring Hereditary

Col17a1

Dystrophia Helsinglandica

Dystrophia Smolandiensis

Recurrent Hereditary Corneal Erosions

Rces

Recurrent Corneal Erosion Syndrome

Recurrent Erosion Of Cornea

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Amyloidosis, Finnish Type

Finnish Type Amyloidosis

Meretoja Syndrome

Amyloidosis V

Amyloidosis, Meretoja Type

Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy

Lattice Corneal Dystrophy Type Ii

Familial Amyloidosis, Finnish Type

Familial Amyloid Polyneuropathy Type Iv

Amyloidosis Due To Mutant Gelsolin

Agel Amyloidosis

Gelsolin Amyloidosis

Hereditary Gelsolin Amyloidosis

Lattice Corneal Dystrophy Type Ii Finnish

Gelsolin-Related Amyloidosis

Kymenlaakso Syndrome

Lattice Corneal Dystrophy, Gelsolin Type

Hereditary Amyloidosis, Finnish Type

Lattice Corneal Dystrophy Type 2

Amyloidosis 5

AMYL5

Agel

Familial Amyloidosis Finnish Type

Meretoja Type Amyloidosis

Type Iv Familial Amyloid Polyneuropathy

Familial Amyloid Polyneuropathy, Type V

Familial Amyloid Polyneuropathy, Type Iv

Secondary Corneal Edema
Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy

SCCD

Corneal Dystrophy, Crystalline, Of Schnyder

Corneal Dystrophy, Schnyder Type

Corneal Dystrophy Crystalline Of Schnyder

Crystalline Stromal Dystrophy

Hereditary Crystalline Stromal Dystrophy Of Schnyder

Scd

Corneal Dystrophy, Schnyder

Schnyder Crystalline Dystrophy Sine Crystals

Dystrophy, Corneal, Crystalline, Schnyder

Corneal Ectasia
Primary Cutaneous Amyloidosis

Plca

Primary Localized Cutaneous Amyloidosis

Familial Primary Localized Cutaneous Amyloidosis

Amyloidosis Ix

Lichen Amyloidosis Familial

Amyloidosis, Primary Cutaneous

Pca

Amyloidosis 9

Amyloidosis Familial Cutaneous Lichen

Fplca

Familial Lichen Amyloidosis

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Crisponi/Cold-Induced Sweating Syndrome 2

Cold-Induced Sweating Syndrome 2

CISS2

Sweating Syndrome, Cold-Induced, Type 2

Lung Cancer Susceptibility 3

Lung Adenocarcinoma

Adenocarcinoma Of Lung

LNCR3

Adenocarcinoma Of Lung, Susceptibility To

Bronchogenic Lung Adenocarcinoma

Nonsmall Cell Adenocarcinoma

Adenocarcinoma Lung

Lung Adenocarcinomas

Non-Small Cell Adenocarcinoma

Osteopetrosis, Autosomal Recessive 6

OPTB6

Autosomal Recessive Osteopetrosis 6

Autosomal Recessive Osteopetrosis Intermediate Form

Osteopetrosis, Autosomal Recessive, Intermediate Form

Osteopetrosis Autosomal Recessive 6

Autosomal Recessive Osteopetrosis Type 6

Osteopetrosis Autosomal Recessive Intermediate Form

Intermediate Osteopetrosis

Autosomal Recessive Intermediate Osteopetrosis

Osteopetrosis, Autosomal Recessive, Type 6

Retinal Degeneration

Degeneration Of Retina

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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
Bos taurus TGFBI VGNC VGNC:52886
Canis familiaris TGFBI VGNC VGNC:47311
Mus musculus TGFBI MGD MGI:99959
Felis catus TGFBI VGNC VGNC:66134
Rattus norvegicus TGFBI RGD RGD:620017
Macaca mulatta TGFBI VGNC VGNC:78336
Others TGFBI NCBI