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 functi... See more...

Aliases for LTBP2 Gene

Aliases for LTBP2 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 2 2 3 5
  • Latent-Transforming Growth Factor Beta-Binding Protein 2 3 4
  • C14orf141 3 4
  • LTBP-2 3 4
  • LTBP3 3 4
  • Chromosome 14 Open Reading Frame 141 2
  • MSTP031 3
  • GLC3D 3
  • MSPKA 3
  • LTBP2 5
  • 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 Nanog in Mammalian ESC Pluripotency and Degradation of the extracellular matrix. 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 Summary 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 , Rfam classification and piRNA Summary for LTBP2 Gene

Genomics for LTBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LTBP2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LTBP2

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

Genomic Locations for LTBP2 Gene

Latest Assembly
chr14:74,498,183-74,612,593
(GRCh38/hg38)
Size:
114,411 bases
Orientation:
Minus strand

Previous Assembly
chr14:74,964,886-75,078,940
(GRCh37/hg19 by Entrez Gene)
Size:
114,055 bases
Orientation:
Minus strand

chr14:74,964,873-75,079,306
(GRCh37/hg19 by Ensembl)
Size:
114,434 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 (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 Asn181, Asn343, Asn421, Asn616, Thr731, Asn811, Asn1170, Asn1309, Ser1397, Thr1401, Asn1430, and Asn1568
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LTBP2_HUMAN (1448)

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

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

Protein Domains for LTBP2 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding

Suggested Antigen Peptide Sequences for LTBP2 Gene

GenScript: Design optimal peptide antigens:
  • Latent-transforming growth factor beta-binding protein 2 (LTBP2_HUMAN)
  • Latent transforming growth factor beta binding protein 2 (Q6AZ94_HUMAN)
  • MSTP031 (Q9H3F3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14767

UniProtKB/Swiss-Prot:

LTBP2_HUMAN :
  • Belongs to the LTBP family.
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

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:0005201 extracellular matrix structural constituent RCA 20551380
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LTBP2

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

COMPARTMENTS
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 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 HDA 27068509
GO:0005615 extracellular space HDA 20551380
GO:0031012 extracellular matrix TAS 7798248
GO:0062023 colocalizes_with collagen-containing extracellular matrix HDA 20551380
GO:0070062 extracellular exosome HDA 21362503
genes like me logo Genes that share ontologies with LTBP2: view

Pathways & Interactions for LTBP2 Gene

PathCards logo

SuperPathways for LTBP2 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with LTBP2: view

Pathways by source for LTBP2 Gene

54 Qiagen pathways for LTBP2 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for LTBP2 Gene

Activates:

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

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

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LTBP2

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

No ASD Table

Relevant External Links for LTBP2 Gene

GeneLoc Exon Structure for
LTBP2

Expression for LTBP2 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LTBP2

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 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(3.1)
  • Heart(2.8)
  • Eye(2.6)
  • Muscle(2.6)
  • Nervous system(2.4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • 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
General:
  • 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 for research

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 29 30
  • 97.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LTBP2 29 30
  • 87.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LTBP2 29 30
  • 86.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ltbp2 29
  • 82.95 (n)
Mouse
(Mus musculus)
Mammalia Ltbp2 29 16 30
  • 82.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LTBP2 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 30 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves LTBP2 29 30
  • 65.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LTBP2 30
  • 55 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ltbp1 30
  • 39 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta frac 30
  • 21 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea B0393.5 31
  • 39 (a)
ZK783.1 31
  • 31 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
ManyToMany
Species where no ortholog for LTBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LTBP2: view image
Alliance of Genome Resources:
Additional Orthologs for LTBP2

Paralogs for LTBP2 Gene

Paralogs for LTBP2 Gene

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

  • LTBP2_HUMAN
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LTBP2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1028258 Uncertain Significance: Glaucoma 3, primary congenital, d 74,509,241(-) C/T
NM_000428.3(LTBP2):c.3400G>A (p.Glu1134Lys)
MISSENSE
1028259 Pathogenic: Glaucoma 3, primary congenital, d 74,508,730(-) C/G
NM_000428.3(LTBP2):c.3527-1G>C
SPLICE_ACCEPTOR
1032352 Pathogenic: Weill-Marchesani syndrome 3 74,511,341(-) CG/C
NM_000428.3(LTBP2):c.2931del (p.Gly978fs)
FRAMESHIFT
769402 Benign: not provided 74,525,152(-) A/.
NM_000428.3(LTBP2):c.2502= (p.Thr834=)
NO_SEQUENCE_ALTERATION
861190 Likely Pathogenic: not provided 74,522,788(-) A/G
NM_000428.3(LTBP2):c.2659+2T>C
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LTBP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
LTBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LTBP2
Leiden Open Variation Database (LOVD)
LTBP2

SNP Genotyping and Copy Number Assays for research

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

Disorders for LTBP2 Gene

MalaCards: The human disease database

(43) MalaCards diseases for LTBP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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 variants 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for LTBP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. 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 72
  3. A homozygous mutation in LTBP2 causes isolated microspherophakia. (PMID: 20617341) Kumar A … Blanton SH (Human genetics 2010) 3 4 72
  4. Null mutations in LTBP2 cause primary congenital glaucoma. (PMID: 19361779) Ali M … Inglehearn CF (American journal of human genetics 2009) 3 4 72
  5. 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

Products for LTBP2 Gene

Sources for LTBP2 Gene