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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Latent transforming growth factor beta binding protein 4
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.2
Chromosome location (bp)
40592883 - 40629818
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Growth factor binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A0C4DH07 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Phobius predicted secreted proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
F8WAA0 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Q8N2S1 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
M0QXV3 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
M0R351 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A087WXJ2 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A087WVR1 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
M0QYE9 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
M0QZX0 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A087WVV5 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A087WXC2 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A087WUU1 [Direct mapping] Latent-transforming growth factor beta-binding protein 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Respiratory diseases Lung diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
