Seroatlas · Human Serome Atlas

TGFBI

Transforming growth factor-beta-induced protein ig-h3

Also known as: BGH3_HUMAN, BIGH3, CDB1, CDGG1, CSD1, CSD2, CSD3, LCD1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q15582
Gene: TGFBI
Ensembl: ENSG00000120708
Chromosome: 5
Canonical length: 683 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted to blood

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

683 residues, UniProt reviewed canonical sequence.

>Q15582|TGFBI
     1  MALFVRLLAL ALALALGPAA TLAGPAKSPY QLVLQHSRLR GRQHGPNVCA VQKVIGTNRK
    61  YFTNCKQWYQ RKICGKSTVI SYECCPGYEK VPGEKGCPAA LPLSNLYETL GVVGSTTTQL
   121  YTDRTEKLRP EMEGPGSFTI FAPSNEAWAS LPAEVLDSLV SNVNIELLNA LRYHMVGRRV
   181  LTDELKHGMT LTSMYQNSNI QIHHYPNGIV TVNCARLLKA DHHATNGVVH LIDKVISTIT
   241  NNIQQIIEIE DTFETLRAAV AASGLNTMLE GNGQYTLLAP TNEAFEKIPS ETLNRILGDP
   301  EALRDLLNNH ILKSAMCAEA IVAGLSVETL EGTTLEVGCS GDMLTINGKA IISNKDILAT
   361  NGVIHYIDEL LIPDSAKTLF ELAAESDVST AIDLFRQAGL GNHLSGSERL TLLAPLNSVF
   421  KDGTPPIDAH TRNLLRNHII KDQLASKYLY HGQTLETLGG KKLRVFVYRN SLCIENSCIA
   481  AHDKRGRYGT LFTMDRVLTP PMGTVMDVLK GDNRFSMLVA AIQSAGLTET LNREGVYTVF
   541  APTNEAFRAL PPRERSRLLG DAKELANILK YHIGDEILVS GGIGALVRLK SLQGDKLEVS
   601  LKNNVVSVNK EPVAEPDIMA TNGVVHVITN VLQPPANRPQ ERGDELADSA LEIFKQASAF
   661  SRASQRSVRL APVYQKLLER MKH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TGFBI can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 470 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 470 nTPM
placenta: 429 nTPM
skin: 296 nTPM
smooth muscle: 272 nTPM
blood vessel: 237 nTPM
appendix: 155 nTPM

Single-cell type

ocular epithelial cells: 1,309 nCPM
kupffer cells: 387 nCPM
hepatic stellate cells: 336 nCPM
macrophages: 323 nCPM
monocytes: 239 nCPM
pdcs: 215 nCPM

Immune cell

plasmacytoid DC: 325 nTPM
classical monocyte: 253 nTPM
myeloid DC: 157 nTPM
intermediate monocyte: 149 nTPM
non-classical monocyte: 122 nTPM
total PBMC: 108 nTPM

Brain region

thalamus: 150 nTPM
choroid plexus: 87 nTPM
pons: 16 nTPM
medulla oblongata: 16 nTPM
cerebral cortex: 14 nTPM
white matter: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TGFBI.

Disease | AllUniProt

Conditions TGFBI is implicated in, by any mechanism.

Corneal dystrophy, epithelial basement membrane (EBMD) MIM:121820
Corneal dystrophy, Groenouw type 1 (CDGG1) MIM:121900
Corneal dystrophy, lattice type 1 (CDL1) MIM:122200
Corneal dystrophy, Thiel-Behnke type (CDTB) MIM:602082
Corneal dystrophy, Reis-Bucklers type (CDRB) MIM:608470
Corneal dystrophy, lattice type 3A (CDL3A) MIM:608471
Corneal dystrophy, Avellino type (CDA) MIM:607541

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 245 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Reis-Bucklers' corneal dystrophy
Epithelial-stromal TGFBI dystrophy
Groenouw corneal dystrophy type I
Lattice corneal dystrophy Type I
Corneal dystrophy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.8
gnomAD pLI: 0
gnomAD missense Z: 0.1
DepMap mean gene effect: 0.11
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TGFBI as an antibody target. Whether an autoantibody or antibody against TGFBI could matter depends on whether native TGFBI is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TGFBI is annotated as secreted, so native TGFBI circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label TGFBI as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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