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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for LTBP2 Gene

Promoters and enhancers for LTBP2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J074610 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 652.2 +2.0 2025 11.8 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF143 FOS SP3 REST LTBP2 ENSG00000258976 ELMSAN1 ZNF410 MLH3 YLPM1 ABCD4 ENSG00000258559 FCF1 ENSG00000222604
GH14J074564 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +48.1 48059 11.5 PKNOX1 SIN3A FEZF1 GLI4 ZBTB7B YY1 ZNF213 ZNF416 ZNF143 KLF7 ELMSAN1 ZNF410 YLPM1 ENSG00000258559 FCF1 PROX2 LTBP2 ENSG00000259005 RPS2P2 SUB1P2
GH14J074562 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.2 +55.3 55265 1.2 CTCF FOXA2 ZSCAN4 MZF1 ZIC2 TEAD3 ZNF316 PATZ1 MAFK TCF7L2 LTBP2 ENSG00000258425 LOC101928352
GH14J074551 Enhancer 0.9 Ensembl ENCODE dbSUPER 17.3 +66.3 66318 2.1 NFIB RCOR1 CHD2 NR2F2 ENSG00000258425 LTBP2 SYNDIG1L ENSG00000259005 LOC101928352
GH14J074647 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.8 -30.0 -30015 3.1 ESRRA TEAD4 TAL1 FEZF1 ZIC2 TCF12 ZNF316 POLR2A FOXK2 NCOR1 FCF1 ELMSAN1 NEK9 LTBP2 ENSG00000258559 MLH3 ZNF410 AREL1 ABCD4 ENSG00000222604
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LTBP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LTBP2 gene promoter:
  • c-Ets-1
  • RelA
  • NF-kappaB1
  • NF-kappaB
  • Egr-2
  • p53
  • GATA-1
  • SREBP-1b
  • SREBP-1c
  • STAT5A

Genomic Locations for LTBP2 Gene

Genomic Locations for LTBP2 Gene
120,440 bases
Minus strand
114,434 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

  • N-Glycosylated.
  • Contains hydroxylated asparagine residues.
  • Glycosylation at posLast=15681568, isoforms=1430, isoforms=1401, posLast=13971397, isoforms=1309, isoforms=1170, isoforms=811, isoforms=731, isoforms=616, posLast=421421, posLast=343343, and isoforms=181
  • 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

Gene Families for LTBP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

Phenotypes From GWAS Catalog for LTBP2 Gene

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

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 27068509
GO:0005615 extracellular space HDA,IDA 20551380
GO:0005622 intracellular IEA --
GO:0031012 extracellular matrix IDA 27559042
GO:0070062 extracellular exosome HDA 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: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 :
(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:

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 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

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 33
  • 97.53 (n)
(Canis familiaris)
Mammalia LTBP2 34 33
  • 87.83 (n)
(Bos Taurus)
Mammalia LTBP2 34 33
  • 86.77 (n)
(Rattus norvegicus)
Mammalia Ltbp2 33
  • 82.95 (n)
(Mus musculus)
Mammalia Ltbp2 16 34 33
  • 82.73 (n)
(Monodelphis domestica)
Mammalia LTBP2 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 30 (a)
(Gallus gallus)
Aves LTBP2 34 33
  • 65.35 (n)
(Anolis carolinensis)
Reptilia LTBP2 34
  • 55 (a)
(Danio rerio)
Actinopterygii ltbp1 34
  • 39 (a)
fruit fly
(Drosophila melanogaster)
Insecta frac 34
  • 21 (a)
(Caenorhabditis elegans)
Secernentea B0393.5 35
  • 39 (a)
ZK783.1 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Evolutionary constrained regions (ECRs) for LTBP2: view image

Paralogs for LTBP2 Gene

Paralogs for LTBP2 Gene

(13) SIMAP similar genes for LTBP2 Gene using alignment to 6 proteins:

  • G3V254_HUMAN
  • G3V3X5_HUMAN
  • G3V511_HUMAN
  • H0YJ20_HUMAN
  • Q6AZ94_HUMAN
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 Variation AA Info Type
rs1010299590 uncertain-significance, Weill-Marchesani syndrome, Primary congenital glaucoma 74,498,858(-) A/G 3_prime_UTR_variant
rs1028755092 uncertain-significance, Weill-Marchesani syndrome, Primary congenital glaucoma 74,612,008(-) G/A 5_prime_UTR_variant
rs1040392342 uncertain-significance, Primary congenital glaucoma, Weill-Marchesani syndrome 74,499,714(-) T/C 3_prime_UTR_variant
rs1052939 likely-benign, Weill-Marchesani syndrome, Primary congenital glaucoma 74,499,066(-) G/A 3_prime_UTR_variant
rs111342797 uncertain-significance, Weill-Marchesani syndrome, Primary congenital glaucoma 74,611,495(-) C/A/G coding_sequence_variant, synonymous_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)

Additional Variant Information for LTBP2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for LTBP2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for LTBP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards


  • 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.

Additional Disease Information for LTBP2

Genetic Association Database
Human Genome Epidemiology 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) Morén A … Heldin CH (The Journal of biological chemistry 1994) 2 3 4 22 58
  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 MA (Matrix biology : journal of the International Society for Matrix Biology 2007) 3 4 22 58
  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 (Molecular biology of the cell 2000) 3 4 22 58
  4. Analysis of the human gene encoding latent transforming growth factor-beta-binding protein-2. (PMID: 8697098) Bashir MM … Rosenbloom J (The international journal of biochemistry & cell biology 1996) 3 4 22 58
  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 (Human mutation 2012) 3 4 58

Products for LTBP2 Gene

Sources for LTBP2 Gene

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