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Entry version 174 (05 Jun 2019)
Sequence version 3 (18 May 2010)
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Protein

Latent-transforming growth factor beta-binding protein 2

Gene

LTBP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May play an integral structural role in elastic-fiber architectural organization and/or assembly.2 Publications

Caution

A publication reported that a complex is formed with TGFB1 (PubMed:7798248). According to another report, there is no association with TGFB1 (PubMed:10930463).2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGrowth factor binding, Heparin-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2129379 Molecules associated with elastic fibres

SIGNOR Signaling Network Open Resource

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SIGNORi
Q14767

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Latent-transforming growth factor beta-binding protein 2
Short name:
LTBP-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LTBP2
Synonyms:C14orf141, LTBP3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:6715 LTBP2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602091 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14767

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glaucoma 3, primary congenital, D (GLC3D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
Related information in OMIM
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MSPKA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation.
Related information in OMIM
Weill-Marchesani syndrome 3 (WMS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0686471177V → M in WMS3. 1 PublicationCorresponds to variant dbSNP:rs137854856EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1449 – 1450DL → EIFP: Gain-of-function. Forms a complex with TGFB1. 1 Publication2

Keywords - Diseasei

Disease mutation, Dwarfism, Glaucoma

Organism-specific databases

DisGeNET

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DisGeNETi
4053

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
LTBP2

MalaCards human disease database

More...
MalaCardsi
LTBP2
MIMi251750 phenotype
613086 phenotype
614819 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000119681

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
98976 Congenital glaucoma
238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
3449 Weill-Marchesani syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA164741922

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
LTBP2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439311

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 35By similarityAdd BLAST35
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000764336 – 1821Latent-transforming growth factor beta-binding protein 2Add BLAST1786

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi181N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi191 ↔ 201PROSITE-ProRule annotation
Disulfide bondi195 ↔ 207PROSITE-ProRule annotation
Disulfide bondi209 ↔ 218PROSITE-ProRule annotation
Glycosylationi343N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi400 ↔ 410PROSITE-ProRule annotation
Disulfide bondi404 ↔ 416PROSITE-ProRule annotation
Disulfide bondi418 ↔ 427PROSITE-ProRule annotation
Glycosylationi421N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei506PhosphoserineBy similarity1
Disulfide bondi554 ↔ 576PROSITE-ProRule annotation
Disulfide bondi563 ↔ 589PROSITE-ProRule annotation
Disulfide bondi577 ↔ 592PROSITE-ProRule annotation
Glycosylationi616N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi626 ↔ 637PROSITE-ProRule annotation
Disulfide bondi632 ↔ 646PROSITE-ProRule annotation
Disulfide bondi648 ↔ 661PROSITE-ProRule annotation
Disulfide bondi674 ↔ 696PROSITE-ProRule annotation
Disulfide bondi683 ↔ 709PROSITE-ProRule annotation
Disulfide bondi697 ↔ 712PROSITE-ProRule annotation
Disulfide bondi698 ↔ 724PROSITE-ProRule annotation
Glycosylationi811N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi848 ↔ 861PROSITE-ProRule annotation
Disulfide bondi856 ↔ 870PROSITE-ProRule annotation
Disulfide bondi872 ↔ 885PROSITE-ProRule annotation
Disulfide bondi891 ↔ 902PROSITE-ProRule annotation
Disulfide bondi896 ↔ 911PROSITE-ProRule annotation
Disulfide bondi913 ↔ 928PROSITE-ProRule annotation
Disulfide bondi934 ↔ 945PROSITE-ProRule annotation
Disulfide bondi940 ↔ 954PROSITE-ProRule annotation
Disulfide bondi956 ↔ 968PROSITE-ProRule annotation
Disulfide bondi974 ↔ 985PROSITE-ProRule annotation
Disulfide bondi980 ↔ 994PROSITE-ProRule annotation
Disulfide bondi997 ↔ 1008PROSITE-ProRule annotation
Disulfide bondi1014 ↔ 1025PROSITE-ProRule annotation
Disulfide bondi1020 ↔ 1034PROSITE-ProRule annotation
Disulfide bondi1036 ↔ 1049PROSITE-ProRule annotation
Disulfide bondi1055 ↔ 1066PROSITE-ProRule annotation
Disulfide bondi1061 ↔ 1075PROSITE-ProRule annotation
Disulfide bondi1078 ↔ 1091PROSITE-ProRule annotation
Disulfide bondi1097 ↔ 1108PROSITE-ProRule annotation
Disulfide bondi1103 ↔ 1117PROSITE-ProRule annotation
Disulfide bondi1120 ↔ 1133PROSITE-ProRule annotation
Disulfide bondi1139 ↔ 1151PROSITE-ProRule annotation
Disulfide bondi1146 ↔ 1160PROSITE-ProRule annotation
Disulfide bondi1162 ↔ 1174PROSITE-ProRule annotation
Glycosylationi1170N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1180 ↔ 1192PROSITE-ProRule annotation
Disulfide bondi1186 ↔ 1201PROSITE-ProRule annotation
Disulfide bondi1203 ↔ 1216PROSITE-ProRule annotation
Disulfide bondi1222 ↔ 1233PROSITE-ProRule annotation
Disulfide bondi1228 ↔ 1242PROSITE-ProRule annotation
Disulfide bondi1244 ↔ 1257PROSITE-ProRule annotation
Disulfide bondi1263 ↔ 1276PROSITE-ProRule annotation
Disulfide bondi1271 ↔ 1285PROSITE-ProRule annotation
Disulfide bondi1289 ↔ 1301PROSITE-ProRule annotation
Disulfide bondi1307 ↔ 1319PROSITE-ProRule annotation
Glycosylationi1309N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1313 ↔ 1328PROSITE-ProRule annotation
Disulfide bondi1330 ↔ 1343PROSITE-ProRule annotation
Disulfide bondi1349 ↔ 1361PROSITE-ProRule annotation
Disulfide bondi1356 ↔ 1370PROSITE-ProRule annotation
Disulfide bondi1372 ↔ 1386PROSITE-ProRule annotation
Disulfide bondi1413 ↔ 1436PROSITE-ProRule annotation
Disulfide bondi1423 ↔ 1448PROSITE-ProRule annotation
Glycosylationi1430N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1437 ↔ 1451PROSITE-ProRule annotation
Disulfide bondi1438 ↔ 1463PROSITE-ProRule annotation
Disulfide bondi1489 ↔ 1502PROSITE-ProRule annotation
Disulfide bondi1497 ↔ 1511PROSITE-ProRule annotation
Disulfide bondi1513 ↔ 1526PROSITE-ProRule annotation
Disulfide bondi1532 ↔ 1542PROSITE-ProRule annotation
Disulfide bondi1537 ↔ 1551PROSITE-ProRule annotation
Disulfide bondi1553 ↔ 1566PROSITE-ProRule annotation
Glycosylationi1568N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1586 ↔ 1609PROSITE-ProRule annotation
Disulfide bondi1595 ↔ 1621PROSITE-ProRule annotation
Disulfide bondi1610 ↔ 1624PROSITE-ProRule annotation
Disulfide bondi1611 ↔ 1636PROSITE-ProRule annotation
Disulfide bondi1737 ↔ 1748PROSITE-ProRule annotation
Disulfide bondi1743 ↔ 1757PROSITE-ProRule annotation
Disulfide bondi1759 ↔ 1772PROSITE-ProRule annotation
Disulfide bondi1778 ↔ 1793PROSITE-ProRule annotation
Disulfide bondi1788 ↔ 1802PROSITE-ProRule annotation
Disulfide bondi1804 ↔ 1817PROSITE-ProRule annotation

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-Glycosylated.1 Publication
Contains hydroxylated asparagine residues.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14767

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14767

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q14767

PeptideAtlas

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PeptideAtlasi
Q14767

PRoteomics IDEntifications database

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PRIDEi
Q14767

ProteomicsDB human proteome resource

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ProteomicsDBi
60164

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1448

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14767

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q14767

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q14767

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the aorta (at protein level). Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000119681 Expressed in 219 organ(s), highest expression level in tendon of biceps brachii

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14767 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14767 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA003415

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex (PubMed:7798248).

Interacts with SDC4 (PubMed:20382221).

Interacts (via C-terminal domain) with FBN1 (via N-terminal domain) in a Ca(+2)-dependent manner (PubMed:17293099).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
FBLN5Q9UBX52EBI-1546118,EBI-947897

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q14767, 3 interactors

Molecular INTeraction database

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MINTi
Q14767

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261978

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q14767

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini187 – 219EGF-like 1PROSITE-ProRule annotationAdd BLAST33
Domaini396 – 428EGF-like 2PROSITE-ProRule annotationAdd BLAST33
Domaini552 – 604TB 1PROSITE-ProRule annotationAdd BLAST53
Domaini622 – 662EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini672 – 724TB 2PROSITE-ProRule annotationAdd BLAST53
Domaini844 – 886EGF-like 4PROSITE-ProRule annotationAdd BLAST43
Domaini887 – 929EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini930 – 969EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini970 – 1009EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini1010 – 1050EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1051 – 1092EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1093 – 1134EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1135 – 1175EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1176 – 1217EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1218 – 1258EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1259 – 1302EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini1303 – 1344EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1345 – 1387EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini1411 – 1463TB 3PROSITE-ProRule annotationAdd BLAST53
Domaini1485 – 1527EGF-like 17; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini1528 – 1567EGF-like 18; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini1584 – 1636TB 4PROSITE-ProRule annotationAdd BLAST53
Domaini1733 – 1773EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1774 – 1818EGF-like 20; calcium-bindingPROSITE-ProRule annotationAdd BLAST45

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni94 – 115Heparin-bindingAdd BLAST22
Regioni232 – 249Heparin-bindingAdd BLAST18
Regioni344 – 354Heparin-bindingAdd BLAST11
Regioni1639 – 1821C-terminal domain1 PublicationAdd BLAST183

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi375 – 377Cell attachment siteSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi856 – 1372Cys-richAdd BLAST517

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LTBP family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IR7H Eukaryota
ENOG410XSTY LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160884

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293153

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14767

KEGG Orthology (KO)

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KOi
K08023

Identification of Orthologs from Complete Genome Data

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OMAi
RCYNSCE

Database of Orthologous Groups

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OrthoDBi
1358010at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14767

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.90.290.10, 4 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00008 EGF, 1 hit
PF07645 EGF_CA, 17 hits
PF00683 TB, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 20 hits
SM00179 EGF_CA, 18 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184 SSF57184, 5 hits
SSF57581 SSF57581, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 13 hits
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 11 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 16 hits
PS51364 TB, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q14767-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRPRTKARSP GRALRNPWRG FLPLTLALFV GAGHAQRDPV GRYEPAGGDA
60 70 80 90 100
NRLRRPGGSY PAAAAAKVYS LFREQDAPVA GLQPVERAQP GWGSPRRPTE
110 120 130 140 150
AEARRPSRAQ QSRRVQPPAQ TRRSTPLGQQ QPAPRTRAAP ALPRLGTPQR
160 170 180 190 200
SGAAPPTPPR GRLTGRNVCG GQCCPGWTTA NSTNHCIKPV CEPPCQNRGS
210 220 230 240 250
CSRPQLCVCR SGFRGARCEE VIPDEEFDPQ NSRLAPRRWA ERSPNLRRSS
260 270 280 290 300
AAGEGTLARA QPPAPQSPPA PQSPPAGTLS GLSQTHPSQQ HVGLSRTVRL
310 320 330 340 350
HPTATASSQL SSNALPPGPG LEQRDGTQQA VPLEHPSSPW GLNLTEKIKK
360 370 380 390 400
IKIVFTPTIC KQTCARGHCA NSCERGDTTT LYSQGGHGHD PKSGFRIYFC
410 420 430 440 450
QIPCLNGGRC IGRDECWCPA NSTGKFCHLP IPQPDREPPG RGSRPRALLE
460 470 480 490 500
APLKQSTFTL PLSNQLASVN PSLVKVHIHH PPEASVQIHQ VAQVRGGVEE
510 520 530 540 550
ALVENSVETR PPPWLPASPG HSLWDSNNIP ARSGEPPRPL PPAAPRPRGL
560 570 580 590 600
LGRCYLNTVN GQCANPLLEL TTQEDCCGSV GAFWGVTLCA PCPPRPASPV
610 620 630 640 650
IENGQLECPQ GYKRLNLTHC QDINECLTLG LCKDAECVNT RGSYLCTCRP
660 670 680 690 700
GLMLDPSRSR CVSDKAISML QGLCYRSLGP GTCTLPLAQR ITKQICCCSR
710 720 730 740 750
VGKAWGSECE KCPLPGTEAF REICPAGHGY TYASSDIRLS MRKAEEEELA
760 770 780 790 800
RPPREQGQRS SGALPGPAER QPLRVVTDTW LEAGTIPDKG DSQAGQVTTS
810 820 830 840 850
VTHAPAWVTG NATTPPMPEQ GIAEIQEEQV TPSTDVLVTL STPGIDRCAA
860 870 880 890 900
GATNVCGPGT CVNLPDGYRC VCSPGYQLHP SQAYCTDDNE CLRDPCKGKG
910 920 930 940 950
RCINRVGSYS CFCYPGYTLA TSGATQECQD INECEQPGVC SGGQCTNTEG
960 970 980 990 1000
SYHCECDQGY IMVRKGHCQD INECRHPGTC PDGRCVNSPG SYTCLACEEG
1010 1020 1030 1040 1050
YRGQSGSCVD VNECLTPGVC AHGKCTNLEG SFRCSCEQGY EVTSDEKGCQ
1060 1070 1080 1090 1100
DVDECASRAS CPTGLCLNTE GSFACSACEN GYWVNEDGTA CEDLDECAFP
1110 1120 1130 1140 1150
GVCPSGVCTN TAGSFSCKDC DGGYRPSPLG DSCEDVDECE DPQSSCLGGE
1160 1170 1180 1190 1200
CKNTVGSYQC LCPQGFQLAN GTVCEDVNEC MGEEHCAPHG ECLNSHGSFF
1210 1220 1230 1240 1250
CLCAPGFVSA EGGTSCQDVD ECATTDPCVG GHCVNTEGSF NCLCETGFQP
1260 1270 1280 1290 1300
SPESGECVDI DECEDYGDPV CGTWKCENSP GSYRCVLGCQ PGFHMAPNGD
1310 1320 1330 1340 1350
CIDIDECAND TMCGSHGFCD NTDGSFRCLC DQGFEISPSG WDCVDVNECE
1360 1370 1380 1390 1400
LMLAVCGAAL CENVEGSFLC LCASDLEEYD AQEGHCRPRG AGGQSMSEAP
1410 1420 1430 1440 1450
TGDHAPAPTR MDCYSGQKGH APCSSVLGRN TTQAECCCTQ GASWGDACDL
1460 1470 1480 1490 1500
CPSEDSAEFS EICPSGKGYI PVEGAWTFGQ TMYTDADECV IFGPGLCPNG
1510 1520 1530 1540 1550
RCLNTVPGYV CLCNPGFHYD ASHKKCEDHD ECQDLACENG ECVNTEGSFH
1560 1570 1580 1590 1600
CFCSPPLTLD LSQQRCMNST SSTEDLPDHD IHMDICWKKV TNDVCSEPLR
1610 1620 1630 1640 1650
GHRTTYTECC CQDGEAWSQQ CALCPPRSSE VYAQLCNVAR IEAEREAGVH
1660 1670 1680 1690 1700
FRPGYEYGPG PDDLHYSIYG PDGAPFYNYL GPEDTVPEPA FPNTAGHSAD
1710 1720 1730 1740 1750
RTPILESPLQ PSELQPHYVA SHPEPPAGFE GLQAEECGIL NGCENGRCVR
1760 1770 1780 1790 1800
VREGYTCDCF EGFQLDAAHM ACVDVNECDD LNGPAVLCVH GYCENTEGSY
1810 1820
RCHCSPGYVA EAGPPHCTAK E
Length:1,821
Mass (Da):195,052
Last modified:May 18, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3D6952B39885E1A6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V511G3V511_HUMAN
Latent-transforming growth factor b...
LTBP2
1,769Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3X5G3V3X5_HUMAN
Latent-transforming growth factor b...
LTBP2
1,777Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ20H0YJ20_HUMAN
Latent-transforming growth factor b...
LTBP2
233Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti897K → Q in CAA86030 (PubMed:7798248).Curated1
Sequence conflicti1443S → T in CAA86030 (PubMed:7798248).Curated1
Sequence conflicti1615E → K in CAA86030 (PubMed:7798248).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05927037R → M. Corresponds to variant dbSNP:rs934996EnsemblClinVar.1
Natural variantiVAR_055752319P → Q. Corresponds to variant dbSNP:rs2304707EnsemblClinVar.1
Natural variantiVAR_060337591P → S. Corresponds to variant dbSNP:rs2196862Ensembl.1
Natural variantiVAR_0686471177V → M in WMS3. 1 PublicationCorresponds to variant dbSNP:rs137854856EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z37976 mRNA Translation: CAA86030.1
S82451 mRNA Translation: AAB37459.1
AC013451 Genomic DNA Translation: AAF87081.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9831.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A55494

NCBI Reference Sequences

More...
RefSeqi
NP_000419.1, NM_000428.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261978; ENSP00000261978; ENSG00000119681

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4053

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4053

UCSC genome browser

More...
UCSCi
uc001xqa.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z37976 mRNA Translation: CAA86030.1
S82451 mRNA Translation: AAB37459.1
AC013451 Genomic DNA Translation: AAF87081.1
CCDSiCCDS9831.1
PIRiA55494
RefSeqiNP_000419.1, NM_000428.2

3D structure databases

SMRiQ14767
ModBaseiSearch...

Protein-protein interaction databases

IntActiQ14767, 3 interactors
MINTiQ14767
STRINGi9606.ENSP00000261978

PTM databases

GlyConnecti1448
iPTMnetiQ14767
PhosphoSitePlusiQ14767
SwissPalmiQ14767

Polymorphism and mutation databases

BioMutaiLTBP2
DMDMi296439311

Proteomic databases

EPDiQ14767
jPOSTiQ14767
PaxDbiQ14767
PeptideAtlasiQ14767
PRIDEiQ14767
ProteomicsDBi60164

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261978; ENSP00000261978; ENSG00000119681
GeneIDi4053
KEGGihsa:4053
UCSCiuc001xqa.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4053
DisGeNETi4053

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LTBP2
GeneReviewsiLTBP2
HGNCiHGNC:6715 LTBP2
HPAiHPA003415
MalaCardsiLTBP2
MIMi251750 phenotype
602091 gene
613086 phenotype
614819 phenotype
neXtProtiNX_Q14767
OpenTargetsiENSG00000119681
Orphaneti98976 Congenital glaucoma
238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
3449 Weill-Marchesani syndrome
PharmGKBiPA164741922

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR7H Eukaryota
ENOG410XSTY LUCA
GeneTreeiENSGT00940000160884
HOGENOMiHOG000293153
InParanoidiQ14767
KOiK08023
OMAiRCYNSCE
OrthoDBi1358010at2759
PhylomeDBiQ14767

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres
SIGNORiQ14767

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
LTBP2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LTBP2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4053

Protein Ontology

More...
PROi
PR:Q14767

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000119681 Expressed in 219 organ(s), highest expression level in tendon of biceps brachii
ExpressionAtlasiQ14767 baseline and differential
GenevisibleiQ14767 HS

Family and domain databases

Gene3Di3.90.290.10, 4 hits
InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf
PfamiView protein in Pfam
PF00008 EGF, 1 hit
PF07645 EGF_CA, 17 hits
PF00683 TB, 4 hits
SMARTiView protein in SMART
SM00181 EGF, 20 hits
SM00179 EGF_CA, 18 hits
SUPFAMiSSF57184 SSF57184, 5 hits
SSF57581 SSF57581, 4 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 13 hits
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 11 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 16 hits
PS51364 TB, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLTBP2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14767
Secondary accession number(s): Q99907, Q9NS51
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 18, 2010
Last modified: June 5, 2019
This is version 174 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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