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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
  • Latent-Transforming Growth Factor Beta-Binding Protein 2 3
  • 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 Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma and Weill-Marchesani Syndrome 3, Recessive. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. GO annotations related to this gene include calcium ion binding and growth factor binding. An important paralog of this gene is LTBP1.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G074564 2 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +48.1 48059 11.5 PKNOX1 FOXA2 SIN3A ARID4B FEZF1 ZBTB7B YY1 ZNF416 FOS ZNF263 ELMSAN1 LTBP2 ENSG00000259005 FCF1 ENSG00000258559 LIN52 SYNDIG1L PROX2 NPC2 DLST
GH14G074562 1.3 Ensembl ENCODE dbSUPER 16.2 +55.3 55266 1.2 CTCF FOXA2 ZSCAN4 ZIC2 TEAD3 ZNF316 PATZ1 MAFK TCF7L2 L3MBTL2 LTBP2 ENSG00000258425 LOC101928352
GH14G074551 1 Ensembl ENCODE dbSUPER 17.3 +66.3 66319 2.1 CTBP1 NFIB TEAD4 REST NR2F2 LTBP2 SYNDIG1L ENSG00000259005 ENSG00000258425 LOC101928352
GH14G074557 0.9 dbSUPER 18.4 +60.2 60223 1.4 HDGF HDAC1 PKNOX1 ARNT NFRKB TCF12 GATA2 FOS BCLAF1 CREM LTBP2 ABCD4 SYNDIG1L ENSG00000222604 FCF1 ENSG00000258425 LOC101928352
GH14G074647 1.3 Ensembl ENCODE dbSUPER 11.8 -30.0 -30016 3.1 ESRRA TAL1 TEAD4 FEZF1 ZIC2 TCF12 ZNF316 GATA2 NCOR1 FOXK2 FCF1 ELMSAN1 NEK9 LTBP2 ENSG00000258559 AREL1 ENSG00000222604 DLST LOC105370567
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LTBP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LTBP2 Gene

74,498,170 bp from pter
74,618,609 bp from pter
120,440 bases
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:
    Recommended name:
    Latent-transforming growth factor beta-binding protein 2
    Protein Accession:
    Secondary Accessions:
    • Q99907
    • Q9NS51

    Protein attributes for LTBP2 Gene

    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 (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).

neXtProt entry for LTBP2 Gene

Post-translational modifications for LTBP2 Gene

  • Contains hydroxylated asparagine residues.
  • N-Glycosylated.
  • Glycosylation at posLast=181181, posLast=343343, Asn421, Asn616, Thr731, posLast=811811, Asn1170, posLast=13091309, posLast=13971397, posLast=14011401, posLast=14301430, and Asn1568
  • 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



  • Associates covalently with small latent TGF-beta complex via Repeat B and Repeat C.
  • Belongs to the LTBP family.
  • Associates covalently with small latent TGF-beta complex via Repeat B and Repeat C.
  • 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.

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 17293099
GO:0008201 heparin binding IEA --
GO:0019838 growth factor binding IEA --
genes like me logo Genes that share ontologies with LTBP2: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for LTBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LTBP2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LTBP2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix TAS,IEA --
GO:0005615 extracellular space IDA 20551380
GO:0005622 intracellular IEA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
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:0006605 protein targeting TAS 7798248
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 8697098
GO:0009306 protein secretion TAS 8697098
GO:0097435 supramolecular fiber organization IMP 24908666
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

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for LTBP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LTBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for LTBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LTBP2 Gene:


SOURCE GeneReport for Unigene cluster for LTBP2 Gene:


mRNA Expression by UniProt/SwissProt for LTBP2 Gene:

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

Evidence on tissue expression from TISSUES for LTBP2 Gene

  • Lung(2.7)
  • Eye(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LTBP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with LTBP2: view

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
(Pan troglodytes)
Mammalia LTBP2 34 35
  • 97.53 (n)
(Canis familiaris)
Mammalia LTBP2 34 35
  • 87.83 (n)
(Bos Taurus)
Mammalia LTBP2 34 35
  • 86.77 (n)
(Rattus norvegicus)
Mammalia Ltbp2 34
  • 82.95 (n)
(Mus musculus)
Mammalia Ltbp2 34 16 35
  • 82.73 (n)
(Monodelphis domestica)
Mammalia LTBP2 35
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 30 (a)
(Gallus gallus)
Aves LTBP2 34 35
  • 65.35 (n)
(Anolis carolinensis)
Reptilia LTBP2 35
  • 55 (a)
(Danio rerio)
Actinopterygii ltbp1 35
  • 39 (a)
fruit fly
(Drosophila melanogaster)
Insecta frac 35
  • 21 (a)
(Caenorhabditis elegans)
Secernentea B0393.5 36
  • 39 (a)
ZK783.1 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
Species where no ortholog for LTBP2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for LTBP2 (if available)
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
rs137854856 Pathogenic, Weill-Marchesani syndrome 3 (WMS3) [MIM:614819] 74,508,727(-) CAGAT(A/G)TGAAT reference, missense
rs121918355 Pathogenic 74,555,629(-) CTGTC(C/T)GACTT reference, stop-gained
rs121918356 Pathogenic 74,611,614(-) CGCAG(C/T)AGTCG upstream-variant-2KB, reference, stop-gained
rs137854855 Pathogenic 74,551,108(-) GGCCT(C/G/T)GAGGA reference, missense, stop-gained
rs137854895 Pathogenic 74,500,974(-) GGTTA(-/C)TGCGA reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv25787 CNV gain 19812545
esv2657100 CNV deletion 23128226
esv3634943 CNV gain 21293372
esv3634946 CNV loss 21293372
nsv474091 CNV novel sequence insertion 20440878
nsv565185 CNV loss 21841781
nsv826994 CNV gain 20364138
nsv832829 CNV loss 17160897
nsv832830 CNV loss 17160897
nsv832831 CNV loss 17160897
nsv952867 CNV deletion 24416366

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for LTBP2 Gene

MalaCards: The human disease database

(17) 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


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  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 4 22 64
  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 4 22 64
  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 4 22 64
  5. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. (PMID: 22539340) Haji-Seyed-Javadi R. … Elahi E. (Hum. Mutat. 2012) 3 4 64

Products for LTBP2 Gene

Sources for LTBP2 Gene

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