Details for: TGFBI

Gene ID: 7045

Symbol: TGFBI

Ensembl ID: ENSG00000120708

Description: transforming growth factor beta induced

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.31
    Marker Score: 3531
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.92
    Marker Score: 3341
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.76
    Marker Score: 3330
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.17
    Marker Score: 121462
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.13
    Marker Score: 2128
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 1.99
    Marker Score: 447
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.98
    Marker Score: 3860
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.98
    Marker Score: 2186
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.96
    Marker Score: 12777
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.88
    Marker Score: 1098
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.71
    Marker Score: 745
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.67
    Marker Score: 4338
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.67
    Marker Score: 1760
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.66
    Marker Score: 3377
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.64
    Marker Score: 2259
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.59
    Marker Score: 449
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.58
    Marker Score: 17806.5
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.56
    Marker Score: 649
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.55
    Marker Score: 39731
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.53
    Marker Score: 3592
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.5
    Marker Score: 9131
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168587
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.44
    Marker Score: 18928
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.43
    Marker Score: 2208
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.26
    Marker Score: 2389
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.26
    Marker Score: 1156
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.22
    Marker Score: 3032.5
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.21
    Marker Score: 1236
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.19
    Marker Score: 5141
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.18
    Marker Score: 2837
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.15
    Marker Score: 4265
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4771
  • Cell Name: macrophage (CL0000235)
    Fold Change: 1.11
    Marker Score: 1238
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.1
    Marker Score: 371
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.07
    Marker Score: 3506
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.07
    Marker Score: 1755
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.07
    Marker Score: 737
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.06
    Marker Score: 4089.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71770
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47996
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1
    Marker Score: 377
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30403
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 493
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.95
    Marker Score: 598.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 447.5
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.94
    Marker Score: 518
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.92
    Marker Score: 10717
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 363
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.89
    Marker Score: 13928
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5031
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 316
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.88
    Marker Score: 583
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.83
    Marker Score: 266
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.82
    Marker Score: 1063
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.82
    Marker Score: 1014
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.82
    Marker Score: 782
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.82
    Marker Score: 695
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 621
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.81
    Marker Score: 4874
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.81
    Marker Score: 229
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.8
    Marker Score: 467
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.79
    Marker Score: 561
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.78
    Marker Score: 374
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.78
    Marker Score: 1464
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.77
    Marker Score: 999
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.76
    Marker Score: 912
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.75
    Marker Score: 1200
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.75
    Marker Score: 721
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 385
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 665
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.72
    Marker Score: 3004
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.72
    Marker Score: 358
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.71
    Marker Score: 187
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.7
    Marker Score: 361
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.7
    Marker Score: 360
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.69
    Marker Score: 239
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.69
    Marker Score: 288
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.68
    Marker Score: 684
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.67
    Marker Score: 230
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.66
    Marker Score: 1266.5
  • Cell Name: colon macrophage (CL0009038)
    Fold Change: 0.66
    Marker Score: 181
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.63
    Marker Score: 159
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.63
    Marker Score: 261
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.62
    Marker Score: 138
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.61
    Marker Score: 404
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.6
    Marker Score: 323.5
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.6
    Marker Score: 158
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.6
    Marker Score: 20369.5
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.59
    Marker Score: 339
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.56
    Marker Score: 135
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.56
    Marker Score: 591
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.55
    Marker Score: 298
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.55
    Marker Score: 537
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.55
    Marker Score: 294

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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:

Database IDs:

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. For the full schema, download it here.