LTBP4 protein expression summary - The Human Protein Atlas

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LTBP4

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HUMAN PROTEIN ATLAS SUMMARYⁱ 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.
Proteinⁱ Full gene name according to HGNC.	Latent transforming growth factor beta binding protein 4
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	LTBP4 (FLJ46318, FLJ90018, LTBP-4, LTBP-4L)
Tissue specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Single cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Group enriched (Leydig cells, Peritubular cells)
Blood specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed blood cell samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Low immune cell specificity
Brain specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low human brain regional specificity
Cancer prognostic summary	Prognostic marker in ovarian cancer (unfavorable)
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. Read more	Intracellular, Secreted (different isoforms)
Extracellular locationⁱ All genes with at least one isoform expected to be secreted to the extracellular environment have been annotated and classified either as secreted to blood or as locally secreted, depending on the predicted final location of the corresponding protein. Proteins expected to be locally secreted have been further classified according to their site of expression. Read more	Secreted to extracellular matrix
Protein function (UniProt)ⁱ 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
Disease involvementⁱ Disease related keywords assigned by UniProt combined with Cancer-related genes and FDA approved drug targets Read more	Disease mutation
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

TISSUE ATLASⁱ Summary of data presented in the Tissue Atlas and representative images of protein expression (left) and mRNA expression (right). The images are clickable and will redirect to more Tissue Atlas data. The Tissue Atlas contains information regarding the expression profiles of protein-coding genes in normal human tissue, both on the mRNA and protein level. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more

Tissue specificity (RNA)ⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Tissue distribution (RNA)ⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in all
Protein expressionⁱ A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation. "Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile. Read more	Extracellular deposits and cytoplasmic expression in most tissues.

SINGLE CELL TYPE ATLASⁱ Summary of data presented in the Cell Type Atlas and an interactive image showing mRNA expression in cell type groups e.g. epithelial cells and germ cells. The image is clickable and will redirect to more Cell Type Atlas data. The Cell Type Atlas contains information about single cell type RNA expression based on scRNAseq of human tissues. The data also covers transcriptomics analysis of human blood and cultured cell lines. Read more

Cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Group enriched (Leydig cells, Peritubular cells)
Cell line specificityⁱ RNA specificity category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.	Cell line enhanced (Karpas-707)

PATHOLOGY ATLASⁱ Summary of data presented in the Pathology Atlas , with representative images of protein expression in cancer (left) and correlation between mRNA expression and patient survival (right). Images are clickable and redirect to pages with more Pathology Atlas data. The Pathology Atlas contains mRNA and protein expression data from 17 different forms of human cancer, as well as correlation analysis of mRNA expression and patient survival. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more
	Ovarian cancer p<0.001
Prognostic summary	Prognostic marker in ovarian cancer (unfavorable)
Cancer specificity (RNA)ⁱ Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected. Read more	Low cancer specificity
Cancer distribution (RNA)ⁱ Distribution of RNA expression in 17 cancer types is categorized as either detected in single, detected in some, detected in many, detected in all, or not detected. Read more	Detected in all

BRAIN ATLASⁱ Summary of data presented in the Brain Atlas and a representative image of mRNA expression in the human brain. The image is clickable and will redirect to more Brain Atlas data. The Brain Atlas explores the protein expression in the mammalian brain by visualization and integration of data from three mammalian species (human, pig and mouse). Transcriptomics data combined with affinity-based protein in situ localization down to single cell level is available in a brain-centric sub atlas of the Human Protein Atlas. Read more

Human regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Pig regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Mouse regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity

BLOOD ATLASⁱ Summary of data presented in the Blood Atlas and a representative image of mRNA expression in immune cells in the blood. The image is clickable and will redirect to more Blood Atlas data. The Blood Atlas contains single cell type RNA information covering various immune cells in the blood, e.g. B-cells and granulocytes. Analysis of the human secretome (including annotation of the genes predicted to be actively secreted to human blood) and proteins detected in human blood are also presented. Read more

Secretome annotationⁱ All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are: secreted into blood locally secreted or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes. Read more	Secreted to extracellular matrix
Immune cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Low cell type specificity
Detected in blood by immunoassayⁱ The blood-based immunoassay category applies to actively secreted proteins and is based on plasma or serum protein concentrations established with enzyme-linked immunosorbent assays, compiled from a literature search. The categories include: detected and not detected, where detection refers to a concentration found in the literature search. Read more	No (not applicable)
Detected in blood by mass spectrometryⁱ Detection or not of the gene in blood, based on spectral count estimations from a publicly available mass spectrometry-based plasma proteomics data set obtained from the PeptideAtlas.	Yes

CELL ATLASⁱ Summary of data presented in the Cell Atlas and a representative image of subcellular localization. The Cell Atlas provides RNA expression data derived from RNA sequencing of a large panel of cell lines and protein localization data derived from antibody-based profiling by immunofluorescence confocal microscopy, using a subset of cell lines selected based on RNA expression. Read more

Main locationⁱ Main subcellular location(s) and reliability score(s) for the encoded protein(s) in human cells. The main location(s) may be characterized by presence in all tested cell lines and/or ihigher staining intensity compared to the potential additional location(s). If available, links to overrepresentation analyses in Reactome, a free, open-source, curated and peer reviewed biological pathway database, are provided. An analysis is done for the corresponding gene set of the proteome localizing to the main and additional locations of the protein on this page, respectively. Read more	Not available
Cell cycle dependencyⁱ Cell-cycle dependance of single-cell varations in RNA and/or protein expression as observed in an additional assay for characterizing single-cell varations. "NA" indicates a lack of such data. Read more	NA

GENE INFORMATIONⁱ 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.
Gene name	LTBP4 (HGNC Symbol)
Synonyms	FLJ46318, FLJ90018, LTBP-4, LTBP-4L
Description	Latent transforming growth factor beta binding protein 4 (HGNC Symbol)
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.	13
Protein evidence	Evidence at protein level (all genes)
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes Plasma proteins
Ensembl	ENSG00000090006 (version 92.38)
Entrez gene	8425
UniProt	Q8N2S1 (UniProt - Evidence at protein level)
neXtProt	NX_Q8N2S1
Antibodypedia	LTBP4 antibodies

PROTEIN BROWSERⁱ

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LTBP4-201

LTBP4-202

LTBP4-203

LTBP4-205

LTBP4-207

LTBP4-216

LTBP4-220

LTBP4-225

LTBP4-226

LTBP4-229

LTBP4-233

LTBP4-236

LTBP4-238

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PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. 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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
LTBP4-201 ENSP00000204005 ENST00000204005	A0A0C4DH07 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	1587 aa 169.5 kDa	No	0
LTBP4-202 ENSP00000243562 ENST00000243562	F8WAA0 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	957 aa 102.6 kDa	No	0
LTBP4-203 ENSP00000311905 ENST00000308370	Q8N2S1 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0001558 [regulation of cell growth] GO:0005024 [transforming growth factor beta-activated receptor activity] GO:0005178 [integrin binding] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005539 [glycosaminoglycan binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005615 [extracellular space] GO:0006457 [protein folding] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0007275 [multicellular organism development] GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway] GO:0019838 [growth factor binding] GO:0030162 [regulation of proteolysis] GO:0030252 [growth hormone secretion] GO:0031012 [extracellular matrix] GO:0045595 [regulation of cell differentiation] GO:0046879 [hormone secretion] GO:0050431 [transforming growth factor beta binding] GO:0070062 [extracellular exosome] Show all	1624 aa 173.4 kDa	Yes	0
LTBP4-205 ENSP00000380031 ENST00000396819	Q8N2S1 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0001558 [regulation of cell growth] GO:0005024 [transforming growth factor beta-activated receptor activity] GO:0005178 [integrin binding] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005539 [glycosaminoglycan binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005615 [extracellular space] GO:0006457 [protein folding] GO:0007275 [multicellular organism development] GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway] GO:0019838 [growth factor binding] GO:0030162 [regulation of proteolysis] GO:0030252 [growth hormone secretion] GO:0031012 [extracellular matrix] GO:0045595 [regulation of cell differentiation] GO:0050431 [transforming growth factor beta binding] GO:0070062 [extracellular exosome] Show all	1557 aa 165.7 kDa	Yes	0
LTBP4-207 ENSP00000469406 ENST00000593463	M0QXV3 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	191 aa 20.3 kDa	No	0
LTBP4-216 ENSP00000472995 ENST00000597071	M0R351 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	224 aa 23.3 kDa	No	0
LTBP4-220 ENSP00000481081 ENST00000598166	A0A087WXJ2 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	145 aa 15.9 kDa	No	0
LTBP4-225 ENSP00000479612 ENST00000599225	A0A087WVR1 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	94 aa 10.3 kDa	No	0
LTBP4-226 ENSP00000469785 ENST00000599724	M0QYE9 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	303 aa 32.6 kDa	No	0
LTBP4-229 ENSP00000470824 ENST00000601032	M0QZX0 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	673 aa 72 kDa	No	0
LTBP4-233 ENSP00000479712 ENST00000612121	A0A087WVV5 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	252 aa 26.4 kDa	No	0
LTBP4-236 ENSP00000480888 ENST00000618486	A0A087WXC2 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	189 aa 19.9 kDa	No	0
LTBP4-238 ENSP00000478928 ENST00000622457	A0A087WUU1 [Direct mapping] Latent-transforming growth factor beta-binding protein 4 Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005509 [calcium ion binding] Show all	182 aa 19.5 kDa	No	0

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