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Aliases for LTBP2 Gene

Aliases for LTBP2 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 2 2 3 5
  • C14orf141 3 4
  • LTBP-2 3 4
  • LTBP3 3 4
  • Chromosome 14 Open Reading Frame 141 2
  • MSTP031 3
  • GLC3D 3
  • MSPKA 3
  • WMS3 3

External Ids for LTBP2 Gene

Previous HGNC Symbols for LTBP2 Gene

  • LTBP3
  • C14orf141

Previous GeneCards Identifiers for LTBP2 Gene

  • GC14M072493
  • GC14M068783
  • GC14M072956
  • GC14M074035
  • GC14M074965
  • GC14M055133

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 Weill-Marchesani Syndrome 3, Recessive and Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma. Among its related pathways are p70S6K Signaling and ERK Signaling. 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

Regulatory Elements for LTBP2 Gene

Enhancers for LTBP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LTBP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LTBP2 Gene

Chromosome:
14
Start:
74,498,170 bp from pter
End:
74,618,609 bp from pter
Size:
120,440 bases
Orientation:
Minus strand

Genomic View for LTBP2 Gene

Genes around LTBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LTBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LTBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Asn 181, Asn 343, Asn 421, Asn 616, Thr 731, Asn 811, Asn 1170, Asn 1309, Ser 1397, Thr 1401, Asn 1430, and Asn 1568
  • Modification sites at PhosphoSitePlus

Other Protein References for LTBP2 Gene

No data available for DME Specific Peptides for LTBP2 Gene

Domains & Families for LTBP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q14767

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for LTBP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LTBP2 Gene

MGI Knock Outs for LTBP2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
vacuole 1

Gene Ontology (GO) - Cellular Components for LTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 21362503
genes like me logo Genes that share ontologies with LTBP2: view

Pathways & Interactions 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:0007179 transforming growth factor beta receptor signaling pathway TAS 8697098
genes like me logo Genes that share ontologies with LTBP2: view

No data available for SIGNOR curated interactions for LTBP2 Gene

Drugs & Compounds for LTBP2 Gene

(1) Drugs for LTBP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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 (x13.7), Artery - Coronary (x6.8), and Artery - Tibial (x5.0).

Protein differential expression in normal tissues from HIPED for LTBP2 Gene

This gene is overexpressed in Amniocyte (13.1), Urine (8.6), Uterus (7.8), and Bone marrow mesenchymal stem cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with LTBP2: view

Protein tissue co-expression partners for LTBP2 Gene

- Elite partner

Primer Products

Orthologs for LTBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LTBP2 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia LTBP2 35
  • 97.53 (n)
  • 96.91 (a)
LTBP2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ltbp2 35
  • 82.95 (n)
  • 81.34 (a)
oppossum
(Monodelphis domestica)
Mammalia LTBP2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 30 (a)
ManyToMany
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 B0393.5 37
  • 39 (a)
ZK783.1 37
  • 31 (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

Paralogs for LTBP2 Gene

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
rs2304707 - 74,555,568(+) GGCCT(G/T)GTCCC reference, missense
VAR_059270 -
VAR_060337 -
VAR_068647 Weill-Marchesani syndrome 3 (WMS3)
rs7569 -- 74,500,060(-) TACAG(C/T)ACCCA utr-variant-3-prime

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

Variation tolerance for LTBP2 Gene

Residual Variation Intolerance Score: 87.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.61; 78.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LTBP2 Gene

Human Gene Mutation Database (HGMD)
LTBP2

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

Disorders for LTBP2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for LTBP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LTBP2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for LTBP2

Genetic Association Database (GAD)
LTBP2
Human Genome Epidemiology (HuGE) Navigator
LTBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LTBP2
genes like me logo Genes that share disorders with LTBP2: view

No data available for Genatlas for LTBP2 Gene

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 67
  2. LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. (PMID: 17293099) Hirani R. … Gibson M.A. (Matrix Biol. 2007) 3 23
  3. 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 23
  4. 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 23
  5. Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2). (PMID: 7719025) Li X. … Francke U. (Mamm. Genome 1995) 3 23

Products for LTBP2 Gene

Sources for LTBP2 Gene

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