Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LTBP2 Gene

Aliases for LTBP2 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 2 2 3
  • LTBP3 3 4 6
  • C14orf141 3 4
  • LTBP-2 3 4
  • GLC3D 3 6
  • MSPKA 3 6
  • WMS3 3 6
  • Latent-Transforming Growth Factor Beta-Binding Protein 2 3
  • Chromosome 14 Open Reading Frame 141 2
  • MSTP031 3

External Ids for LTBP2 Gene

Previous Symbols for LTBP2 Gene

  • LTBP3
  • C14orf141

Summaries for LTBP2 Gene

Entrez Gene Summary for LTBP2 Gene

  • The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]

GeneCards Summary for LTBP2 Gene

LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2) is a Protein Coding gene. Diseases associated with LTBP2 include glaucoma 3, primary congenital, d and microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma. Among its related pathways are NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include calcium ion binding and growth factor binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot for LTBP2 Gene

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

Gene Wiki entry for LTBP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LTBP2 Gene

Genomics for LTBP2 Gene

Genomic Location for LTBP2 Gene

Start:
74,498,170 bp from pter
End:
74,612,378 bp from pter
Size:
114,209 bases
Orientation:
Minus strand

Genomic View for LTBP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LTBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LTBP2 Gene

Regulatory Elements for LTBP2 Gene

Proteins for LTBP2 Gene

  • Protein details for LTBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14767-LTBP2_HUMAN
    Recommended name:
    Latent-transforming growth factor beta-binding protein 2
    Protein Accession:
    Q14767
    Secondary Accessions:
    • Q99907
    • Q9NS51

    Protein attributes for LTBP2 Gene

    Size:
    1821 amino acids
    Molecular mass:
    195052 Da
    Quaternary structure:
    • Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with SDC4.

neXtProt entry for LTBP2 Gene

Proteomics data for LTBP2 Gene at MOPED

Post-translational modifications for LTBP2 Gene

  • Contains hydroxylated asparagine residues.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn181, Asn343, Asn421, Asn616, Thr731, Asn811, Asn1170, Asn1309, Ser1397, Thr1401, Asn1430, and Asn1568

Other Protein References for LTBP2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LTBP2 Gene

Domains for LTBP2 Gene

Gene Families for LTBP2 Gene

HGNC:
  • LTBP :Latent transforming growth factor, beta binding proteins

Suggested Antigen Peptide Sequences for LTBP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q14767

UniProtKB/Swiss-Prot:

LTBP2_HUMAN
Domain:
  • Associates covalently with small latent TGF-beta complex via Repeat B and Repeat C.:
    • Q14767
  • Contains 20 EGF-like domains.:
    • Q14767
  • Contains 4 TB (TGF-beta binding) domains.:
    • Q14767
Family:
  • Belongs to the LTBP family.:
    • Q14767
genes like me logo Genes that share domains with LTBP2: view

Function for LTBP2 Gene

Molecular function for LTBP2 Gene

GENATLAS Biochemistry: latent transforming factor beta binding protein 2,240kDa,with homology to LTBP1 and fibrillin
UniProtKB/Swiss-Prot Function: May play an integral structural role in elastic-fiber architectural organization and/or assembly

Gene Ontology (GO) - Molecular Function for LTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17581631
GO:0008201 heparin binding IEA --
GO:0019838 growth factor binding IEA --
genes like me logo Genes that share ontologies with LTBP2: view

Phenotypes for LTBP2 Gene

MGI mutant phenotypes for LTBP2:
inferred from 1 alleles
GenomeRNAi human phenotypes for LTBP2:
genes like me logo Genes that share phenotypes with LTBP2: view

Animal Models for LTBP2 Gene

MGI Knock Outs for LTBP2:

miRNA for LTBP2 Gene

miRTarBase miRNAs that target LTBP2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for LTBP2 Gene

Localization for LTBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LTBP2 Gene

Secreted. Note=Localized in nuchal ligament and aorta to the fibrillin-containing, microfibrillar component of elastic fibers. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LTBP2 Gene COMPARTMENTS Subcellular localization image for LTBP2 gene
Compartment Confidence
extracellular 5
mitochondrion 2
plasma membrane 2
cytosol 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix TAS 7798248
GO:0005615 extracellular space IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 21362503
genes like me logo Genes that share ontologies with LTBP2: view

Pathways for LTBP2 Gene

genes like me logo Genes that share pathways with LTBP2: view

Gene Ontology (GO) - Biological Process for LTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting TAS 7798248
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 8697098
GO:0009306 protein secretion TAS 8697098
genes like me logo Genes that share ontologies with LTBP2: view

Compounds for LTBP2 Gene

(1) Novoseek inferred chemical compound relationships for LTBP2 Gene

Compound -log(P) Hits PubMed IDs
calcium 0 1
genes like me logo Genes that share compounds with LTBP2: view

Transcripts for LTBP2 Gene

mRNA/cDNA for LTBP2 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LTBP2 Gene

Latent transforming growth factor beta binding protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LTBP2 Gene

No ASD Table

Relevant External Links for LTBP2 Gene

GeneLoc Exon Structure for
LTBP2
ECgene alternative splicing isoforms for
LTBP2

Expression for LTBP2 Gene

mRNA expression in normal human tissues for LTBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LTBP2 Gene

This gene is overexpressed in Artery - Aorta (13.7), Artery - Coronary (6.8), and Artery - Tibial (5.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for LTBP2 Gene

SOURCE GeneReport for Unigene cluster for LTBP2 Gene Hs.512776

mRNA Expression by UniProt/SwissProt for LTBP2 Gene

Q14767-LTBP2_HUMAN
Tissue specificity: Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle
genes like me logo Genes that share expressions with LTBP2: view

Orthologs for LTBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LTBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LTBP2 35
  • 97.53 (n)
  • 96.91 (a)
LTBP2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LTBP2 35
  • 86.77 (n)
  • 85.46 (a)
LTBP2 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LTBP2 35
  • 87.83 (n)
  • 86.98 (a)
LTBP2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ltbp2 35
  • 82.73 (n)
  • 81.04 (a)
Ltbp2 16
Ltbp2 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LTBP2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 30 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ltbp2 35
  • 82.95 (n)
  • 81.34 (a)
chicken
(Gallus gallus)
Aves LTBP2 35
  • 65.35 (n)
  • 57.52 (a)
LTBP2 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LTBP2 36
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ltbp1 36
  • 39 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta frac 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK783.1 37
  • 31 (a)
B0393.5 37
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
ManyToMany
Species with no ortholog for LTBP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for LTBP2 Gene

ENSEMBL:
Gene Tree for LTBP2 (if available)
TreeFam:
Gene Tree for LTBP2 (if available)

Paralogs for LTBP2 Gene

Selected SIMAP similar genes for LTBP2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with LTBP2: view

Variants for LTBP2 Gene

Sequence variations from dbSNP and Humsavar for LTBP2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs7569 -- 74,500,060(-) TACAG(C/T)ACCCA utr-variant-3-prime
rs699370 -- 74,522,416(-) TCCGT(A/C/G/T)GGGGG intron-variant
rs699371 -- 74,522,730(-) GGCTA(A/G)GAGGC intron-variant
rs699372 -- 74,526,294(-) GAGTG(G/T)GTGTA intron-variant
rs699373 -- 74,526,360(-) ATGTA(C/T)ATCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LTBP2 Gene

Variant ID Type Subtype PubMed ID
nsv832829 CNV Loss 17160897
nsv902099 CNV Loss 21882294
nsv826994 CNV Gain 20364138
nsv832830 CNV Loss 17160897
esv25787 CNV Gain 19812545
nsv832831 CNV Loss 17160897
esv2657100 CNV Deletion 23128226

Relevant External Links for LTBP2 Gene

HapMap Linkage Disequilibrium report
LTBP2
Human Gene Mutation Database (HGMD)
LTBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTBP2 Gene

Disorders for LTBP2 Gene

(3) OMIM Diseases for LTBP2 Gene (602091)

UniProtKB/Swiss-Prot

LTBP2_HUMAN
  • Glaucoma 3, primary congenital, D (GLC3D) [MIM:613086]: An 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. {ECO:0000269 PubMed:19361779}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MSPKA) [MIM:251750]: A 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. {ECO:0000269 PubMed:20617341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Weill-Marchesani syndrome 3 (WMS3) [MIM:614819]: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. {ECO:0000269 PubMed:22539340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for LTBP2 Gene

Relevant External Links for LTBP2

Genetic Association Database (GAD)
LTBP2
Human Genome Epidemiology (HuGE) Navigator
LTBP2
genes like me logo Genes that share disorders with LTBP2: view

Publications for LTBP2 Gene

  1. Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein. (PMID: 7798248) Moren A. … Heldin C. (J. Biol. Chem. 1994) 2 3 4 23
  2. Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. (PMID: 10930463) Saharinen J. … Keski-Oja J. (Mol. Biol. Cell 2000) 3 4 23
  3. Analysis of the human gene encoding latent transforming growth factor-beta-binding protein-2. (PMID: 8697098) Bashir M.M. … Rosenbloom J. (Int. J. Biochem. Cell Biol. 1996) 3 4 23
  4. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4
  5. Genetic variations in humans associated with differences in the course of hepatitis C. (PMID: 15063762) Saito T. … Kawata S. (Biochem. Biophys. Res. Commun. 2004) 3 48

Products for LTBP2 Gene

Sources for LTBP2 Gene

Back to Top

Content