Details for: TGFBI

Gene ID: 7045

Symbol: TGFBI

Ensembl ID: ENSG00000120708

Description: transforming growth factor beta induced

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 163.2323
    Cell Significance Index: -25.3900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 100.9685
    Cell Significance Index: -25.6100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 64.0858
    Cell Significance Index: -26.4000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 57.4513
    Cell Significance Index: -23.3400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 53.6195
    Cell Significance Index: -25.3200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 50.0014
    Cell Significance Index: -25.7200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 38.1806
    Cell Significance Index: -25.6200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.4464
    Cell Significance Index: -23.3400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.5766
    Cell Significance Index: -25.3700
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 8.8313
    Cell Significance Index: 19.9100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.4495
    Cell Significance Index: -25.4500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 4.6020
    Cell Significance Index: 65.5100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 4.3325
    Cell Significance Index: 67.0300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 4.3067
    Cell Significance Index: 55.1600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.2732
    Cell Significance Index: 78.9800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.1671
    Cell Significance Index: -9.1200
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 3.6549
    Cell Significance Index: 45.2100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 3.3516
    Cell Significance Index: 28.8000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.5502
    Cell Significance Index: 53.3800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 2.1712
    Cell Significance Index: 278.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.6475
    Cell Significance Index: 74.6800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.3777
    Cell Significance Index: 262.1900
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.7912
    Cell Significance Index: 8.2600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7267
    Cell Significance Index: 656.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5440
    Cell Significance Index: 107.9600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4899
    Cell Significance Index: 79.6700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4842
    Cell Significance Index: 214.0800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4386
    Cell Significance Index: 9.3400
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.4154
    Cell Significance Index: 3.3700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3871
    Cell Significance Index: 42.1100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3680
    Cell Significance Index: 36.4000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.3127
    Cell Significance Index: 5.5300
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.3073
    Cell Significance Index: 1.4700
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.2018
    Cell Significance Index: 0.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1875
    Cell Significance Index: 13.2600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1846
    Cell Significance Index: 11.0800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1489
    Cell Significance Index: 10.3000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1001
    Cell Significance Index: 1.6800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0842
    Cell Significance Index: 11.5600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0815
    Cell Significance Index: 1.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0659
    Cell Significance Index: 36.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0479
    Cell Significance Index: 29.9100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0285
    Cell Significance Index: 5.1300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0012
    Cell Significance Index: -0.1500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0024
    Cell Significance Index: -0.0200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0050
    Cell Significance Index: -0.7200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0063
    Cell Significance Index: -0.2200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0066
    Cell Significance Index: -0.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0089
    Cell Significance Index: -16.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0096
    Cell Significance Index: -7.1400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0130
    Cell Significance Index: -1.3300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0180
    Cell Significance Index: -33.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0211
    Cell Significance Index: -32.4200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0212
    Cell Significance Index: -16.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0226
    Cell Significance Index: -14.3300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0241
    Cell Significance Index: -32.7800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0318
    Cell Significance Index: -0.6900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0323
    Cell Significance Index: -18.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0335
    Cell Significance Index: -24.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0389
    Cell Significance Index: -17.6600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0480
    Cell Significance Index: -1.2000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0572
    Cell Significance Index: -20.5100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0706
    Cell Significance Index: -12.0600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0715
    Cell Significance Index: -0.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0737
    Cell Significance Index: -21.2100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0854
    Cell Significance Index: -17.9800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0966
    Cell Significance Index: -2.7700
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.1018
    Cell Significance Index: -0.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1051
    Cell Significance Index: -21.0800
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: -0.1064
    Cell Significance Index: -0.5600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1092
    Cell Significance Index: -12.4700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1188
    Cell Significance Index: -6.0000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1199
    Cell Significance Index: -15.4900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1258
    Cell Significance Index: -4.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1585
    Cell Significance Index: -18.4800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1636
    Cell Significance Index: -10.0300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1673
    Cell Significance Index: -3.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2227
    Cell Significance Index: -26.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2349
    Cell Significance Index: -26.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2369
    Cell Significance Index: -24.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2549
    Cell Significance Index: -13.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2576
    Cell Significance Index: -19.7700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2594
    Cell Significance Index: -6.9400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2692
    Cell Significance Index: -12.6500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2787
    Cell Significance Index: -7.7900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2790
    Cell Significance Index: -7.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2999
    Cell Significance Index: -22.3500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3100
    Cell Significance Index: -24.5500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3825
    Cell Significance Index: -25.7200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.3859
    Cell Significance Index: -6.5000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3890
    Cell Significance Index: -20.2600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3971
    Cell Significance Index: -25.6200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4010
    Cell Significance Index: -21.0600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.4035
    Cell Significance Index: -3.2900
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.4121
    Cell Significance Index: -6.2700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4475
    Cell Significance Index: -18.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4524
    Cell Significance Index: -27.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5011
    Cell Significance Index: -28.1200
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: -0.5294
    Cell Significance Index: -3.8100
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.5614
    Cell Significance Index: -7.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

Title: The Transforming Growth Factor Beta-Induced Protein (TGFBI): A Comprehensive Review of its Immunological Significance Summary: The Transforming Growth Factor Beta-Induced Protein (TGFBI), also known as BGH3_HUMAN, is a protein encoded by the TGFBI gene (ENSG00000120708). This protein plays a crucial role in various cellular processes, including cell adhesion, proliferation, and differentiation. TGFBI is significantly expressed in various cell types, including skeletal muscle satellite stem cells, lung macrophages, and corneal epithelial cells. Its involvement in amyloid fiber formation, angiogenesis, and extracellular matrix organization highlights its importance in maintaining tissue homeostasis. Key Characteristics: TGFBI exhibits a unique expression pattern, with significant expression in cells that form the extracellular matrix, such as basement membranes and collagen-containing extracellular matrices. Its involvement in cell adhesion and negative regulation of cell adhesion suggests a role in modulating interactions between cells and the extracellular matrix. TGFBI's ability to bind to various proteins, including collagen and integrins, further underscores its importance in maintaining tissue structure and function. Pathways and Functions: TGFBI is implicated in several biological pathways, including: 1. Amyloid fiber formation: TGFBI has been shown to interact with amyloid-β peptides, contributing to the formation of amyloid fibers that are characteristic of Alzheimer's disease. 2. Angiogenesis: TGFBI has been found to regulate angiogenic processes by modulating the expression of pro- and anti-angiogenic factors. 3. Cell adhesion: TGFBI binds to integrins and other cell surface receptors, influencing cell adhesion and migration. 4. Extracellular matrix organization: TGFBI plays a crucial role in maintaining the structure and organization of the extracellular matrix, including basement membranes and collagen-containing matrices. 5. Metabolism of proteins: TGFBI is involved in the regulation of protein metabolism, including the processing and degradation of extracellular proteins. Clinical Significance: The dysregulation of TGFBI has been implicated in various diseases, including: 1. Amyloidosis: TGFBI mutations have been associated with familial amyloid polyneuropathy (FAP), a rare inherited disorder characterized by the accumulation of amyloid fibers in peripheral nerves. 2. Cancer: TGFBI has been found to be overexpressed in several types of cancer, including breast, lung, and colon cancer, where it may contribute to tumor progression and metastasis. 3. Neurodegenerative diseases: TGFBI has been implicated in the pathogenesis of Alzheimer's disease, where it may contribute to amyloid fiber formation and neuronal damage. In conclusion, the TGFBI gene plays a critical role in maintaining tissue homeostasis and regulating various cellular processes. Its involvement in amyloid fiber formation, angiogenesis, and extracellular matrix organization highlights its importance in maintaining tissue structure and function. Further research is needed to fully elucidate the clinical significance of TGFBI and its potential as a therapeutic target for various diseases. References: * [Insert references to relevant studies and articles] Note: As an expert immunologist, it is essential to emphasize that the TGFBI gene is not exclusively an immunological gene, but rather a multifunctional gene involved in various cellular processes. However, its dysregulation can have significant implications for immunological diseases and disorders.

Genular Protein ID: 3277490035

Symbol: BGH3_HUMAN

Name: Transforming growth factor-beta-induced protein ig-h3

UniProtKB Accession Codes:

Q15582 D3DQB1 O14471 O14472 O14476 O43216 O43217 O43218 O43219 Q53XM1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 EMDB 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 15 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 10 PIR 1 PIRSF 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1388724

Title: cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta.

PubMed ID: 1388724

DOI: 10.1089/dna.1992.11.511

PubMed ID: 9054935

Title: Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

PubMed ID: 9054935

DOI: 10.1038/ng0397-247

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8024701

Title: Beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice.

PubMed ID: 8024701

DOI: 10.1089/dna.1994.13.571

PubMed ID: 27609313

Title: Disulfide bond pattern of transforming growth factor beta-induced protein.

PubMed ID: 27609313

DOI: 10.1021/acs.biochem.6b00694

PubMed ID: 8077289

Title: cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium.

PubMed ID: 8077289

DOI: 10.1002/jcp.1041600314

PubMed ID: 11501939

Title: Corneal dystrophies in Japan.

PubMed ID: 11501939

DOI: 10.1007/s100380170041

PubMed ID: 18450759

Title: Periostin, a member of a novel family of vitamin K-dependent proteins, is expressed by mesenchymal stromal cells.

PubMed ID: 18450759

DOI: 10.1074/jbc.m708029200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26273833

Title: Absence of vitamin K-dependent gamma-carboxylation in human periostin extracted from fibrotic lung or secreted from a cell line engineered to optimize gamma-carboxylation.

PubMed ID: 26273833

DOI: 10.1371/journal.pone.0135374

PubMed ID: 9463327

Title: Mutation hot spots in 5q31-linked corneal dystrophies.

PubMed ID: 9463327

DOI: 10.1086/301720

PubMed ID: 9497262

Title: A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA.

PubMed ID: 9497262

DOI: 10.1086/301765

PubMed ID: 9780098

Title: Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy.

PubMed ID: 9780098

DOI: 10.1016/s0002-9394(98)00135-4

PubMed ID: 9799082

Title: A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.

PubMed ID: 9799082

DOI: 10.1007/s004390050818

PubMed ID: 10660331

Title: A common beta ig-h3 gene mutation (delta F540) in a large cohort of Sardinian Reis Buecklers' corneal dystrophy patients.

PubMed ID: 10660331

PubMed ID: 10425035

Title: Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.

PubMed ID: 10425035

DOI: 10.1002/(sici)1098-1004(1999)14:2<126::aid-humu4>3.0.co;2-w

PubMed ID: 10328397

Title: A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

PubMed ID: 10328397

DOI: 10.1016/s0161-6420(99)00539-4

PubMed ID: 11024425

Title: Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.

PubMed ID: 11024425

DOI: 10.1016/s0002-9394(00)00571-7

PubMed ID: 10865320

Title: A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and deltaT125-deltaE126.

PubMed ID: 10865320

DOI: 10.1001/archopht.118.6.814

PubMed ID: 10837380

Title: Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.

PubMed ID: 10837380

DOI: 10.1136/bjo.84.6.583

PubMed ID: 11413411

Title: Late-onset form of lattice corneal dystrophy caused by Leu527Arg mutation of the TGFBI gene.

PubMed ID: 11413411

DOI: 10.1097/00003226-200107000-00017

PubMed ID: 11297504

Title: Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.

PubMed ID: 11297504

DOI: 10.1016/s0161-6420(00)00662-x

PubMed ID: 11923233

Title: BIGH3 mutation spectrum in corneal dystrophies.

PubMed ID: 11923233

PubMed ID: 14597039

Title: A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.

PubMed ID: 14597039

DOI: 10.1016/s0002-9394(03)00541-5

PubMed ID: 12782158

Title: A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy.

PubMed ID: 12782158

DOI: 10.1016/s0021-5155(03)00019-4

PubMed ID: 15531312

Title: Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.

PubMed ID: 15531312

DOI: 10.1016/j.ajo.2004.06.021

PubMed ID: 15623763

Title: TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

PubMed ID: 15623763

DOI: 10.1167/iovs.04-0440

PubMed ID: 15790870

Title: Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

PubMed ID: 15790870

DOI: 10.1167/iovs.04-1319

PubMed ID: 15838722

Title: Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.

PubMed ID: 15838722

DOI: 10.1007/s10384-004-0167-7

PubMed ID: 16652336

Title: A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

PubMed ID: 16652336

DOI: 10.1002/humu.20331

PubMed ID: 17013691

Title: A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

PubMed ID: 17013691

DOI: 10.1007/s10384-006-0357-6

PubMed ID: 16541014

Title: Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.

PubMed ID: 16541014

PubMed ID: 16636649

Title: Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.

PubMed ID: 16636649

Sequence Information:

  • Length: 683
  • Mass: 74681
  • Checksum: 40FDC8A71EBB3D00
  • Sequence:
    • MALFVRLLAL ALALALGPAA TLAGPAKSPY QLVLQHSRLR GRQHGPNVCA VQKVIGTNRK 
YFTNCKQWYQ RKICGKSTVI SYECCPGYEK VPGEKGCPAA LPLSNLYETL GVVGSTTTQL 
YTDRTEKLRP EMEGPGSFTI FAPSNEAWAS LPAEVLDSLV SNVNIELLNA LRYHMVGRRV 
LTDELKHGMT LTSMYQNSNI QIHHYPNGIV TVNCARLLKA DHHATNGVVH LIDKVISTIT 
NNIQQIIEIE DTFETLRAAV AASGLNTMLE GNGQYTLLAP TNEAFEKIPS ETLNRILGDP 
EALRDLLNNH ILKSAMCAEA IVAGLSVETL EGTTLEVGCS GDMLTINGKA IISNKDILAT 
NGVIHYIDEL LIPDSAKTLF ELAAESDVST AIDLFRQAGL GNHLSGSERL TLLAPLNSVF 
KDGTPPIDAH TRNLLRNHII KDQLASKYLY HGQTLETLGG KKLRVFVYRN SLCIENSCIA 
AHDKRGRYGT LFTMDRVLTP PMGTVMDVLK GDNRFSMLVA AIQSAGLTET LNREGVYTVF 
APTNEAFRAL PPRERSRLLG DAKELANILK YHIGDEILVS GGIGALVRLK SLQGDKLEVS 
LKNNVVSVNK EPVAEPDIMA TNGVVHVITN VLQPPANRPQ ERGDELADSA LEIFKQASAF 
SRASQRSVRL APVYQKLLER MKH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.