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Aliases for LTBP3 Gene

Aliases for LTBP3 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 3 2 3 5
  • LTBP-3 3 4
  • Latent-Transforming Growth Factor Beta-Binding Protein 3 3
  • Latent TGF Beta Binding Protein 3 3
  • STHAG6 3
  • Pp6425 3
  • LTBP2 3
  • DASS 3

External Ids for LTBP3 Gene

Previous HGNC Symbols for LTBP3 Gene

  • LTBP2

Previous GeneCards Identifiers for LTBP3 Gene

  • GC11M067821
  • GC11M066987
  • GC11M065556
  • GC11M065081
  • GC11M065063
  • GC11M065306
  • GC11M061633

Summaries for LTBP3 Gene

Entrez Gene Summary for LTBP3 Gene

  • The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

GeneCards Summary for LTBP3 Gene

LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3) is a Protein Coding gene. Diseases associated with LTBP3 include Dental Anomalies And Short Stature and Glaucoma 3, Primary Congenital, D. Among its related pathways are p70S6K Signaling and CREB Pathway. GO annotations related to this gene include calcium ion binding and transforming growth factor beta binding. An important paralog of this gene is LTBP1.

UniProtKB/Swiss-Prot for LTBP3 Gene

  • May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM).

Gene Wiki entry for LTBP3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LTBP3 Gene

Genomics for LTBP3 Gene

Regulatory Elements for LTBP3 Gene

Enhancers for LTBP3 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around LTBP3 on UCSC Golden Path with GeneCards custom track

Promoters for LTBP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for LTBP3 Gene

Chromosome:
11
Start:
65,538,559 bp from pter
End:
65,558,930 bp from pter
Size:
20,372 bases
Orientation:
Minus strand

Genomic View for LTBP3 Gene

Genes around LTBP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LTBP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LTBP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LTBP3 Gene

Proteins for LTBP3 Gene

  • Protein details for LTBP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NS15-LTBP3_HUMAN
    Recommended name:
    Latent-transforming growth factor beta-binding protein 3
    Protein Accession:
    Q9NS15
    Secondary Accessions:
    • O15107
    • Q96HB9
    • Q9H7K2
    • Q9UFN4

    Protein attributes for LTBP3 Gene

    Size:
    1303 amino acids
    Molecular mass:
    139359 Da
    Quaternary structure:
    • Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex.
    SequenceCaution:
    • Sequence=BAB15767.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LTBP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LTBP3 Gene

Post-translational modifications for LTBP3 Gene

  • Contains hydroxylated asparagine residues.
  • Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds with TGFB1 propeptide, anchoring it to the extracellular matrix.
  • Glycosylation at Asn 89, Ser 239, Asn 349, Thr 513, Thr 514, Ser 519, Ser 561, Thr 570, Asn 845, Asn 936, Thr 978, and Asn 1275
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LTBP3 Gene

Domains & Families for LTBP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NS15

UniProtKB/Swiss-Prot:

LTBP3_HUMAN :
  • Contains 13 EGF-like domains.
  • Belongs to the LTBP family.
Domain:
  • Contains 13 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 LTBP3: view

Function for LTBP3 Gene

Molecular function for LTBP3 Gene

GENATLAS Biochemistry:
latent transforming growth factor beta,binding protein 3,involved in the formation of extracellular matrix,with homology to LTBP1 and fibrillin,including two isoforms,one of them binding to the 100kDa latent TGFB1 complex
UniProtKB/Swiss-Prot Function:
May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM).

Gene Ontology (GO) - Molecular Function for LTBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0050431 transforming growth factor beta binding IPI 10930463
genes like me logo Genes that share ontologies with LTBP3: view
genes like me logo Genes that share phenotypes with LTBP3: view

Human Phenotype Ontology for LTBP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LTBP3 Gene

MGI Knock Outs for LTBP3:

Animal Model Products

CRISPR Products

miRNA for LTBP3 Gene

miRTarBase miRNAs that target LTBP3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LTBP3 Gene

Localization for LTBP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LTBP3 Gene

Secreted. Note=Secretion occurs after coexpression with TGFB1 and requires complexing with Cys-33 of the TGFB1 propeptide. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LTBP3 Gene COMPARTMENTS Subcellular localization image for LTBP3 gene
Compartment Confidence
extracellular 5
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LTBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031012 extracellular matrix IDA 16157329
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with LTBP3: view

Pathways & Interactions for LTBP3 Gene

genes like me logo Genes that share pathways with LTBP3: view

Gene Ontology (GO) - Biological Process for LTBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036363 transforming growth factor beta activation IMP 18672106
GO:1902462 positive regulation of mesenchymal stem cell proliferation IMP 18672106
GO:2000741 positive regulation of mesenchymal stem cell differentiation IMP 18672106
genes like me logo Genes that share ontologies with LTBP3: view

No data available for SIGNOR curated interactions for LTBP3 Gene

Drugs & Compounds for LTBP3 Gene

No Compound Related Data Available

Transcripts for LTBP3 Gene

Unigene Clusters for LTBP3 Gene

Latent transforming growth factor beta binding protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LTBP3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14: - -
SP15:
SP16:
SP17:
SP18: - -
SP19:
SP20:
SP21:

ExUns: 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a ·
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5:
SP6: - -
SP7:
SP8:
SP9: - - - -
SP10: - - -
SP11: -
SP12:
SP13:
SP14:
SP15: - - - - - - - - - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for LTBP3 Gene

GeneLoc Exon Structure for
LTBP3
ECgene alternative splicing isoforms for
LTBP3

Expression for LTBP3 Gene

mRNA expression in normal human tissues for LTBP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LTBP3 Gene

This gene is overexpressed in Artery - Aorta (x4.4).

Protein differential expression in normal tissues from HIPED for LTBP3 Gene

This gene is overexpressed in Cerebrospinal fluid (15.8), Peripheral blood mononuclear cells (11.2), Gallbladder (8.3), Pancreas (7.2), Adrenal (7.2), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LTBP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of LTBP3 Gene:

LTBP3

SOURCE GeneReport for Unigene cluster for LTBP3 Gene:

Hs.289019

mRNA Expression by UniProt/SwissProt for LTBP3 Gene:

Q9NS15-LTBP3_HUMAN
Tissue specificity: Isoform 2 is expressed prominently in heart, skeletal muscle, prostate, testis, small intestine and ovary. Isoform 1 is strongly expressed in pancreas and liver.
genes like me logo Genes that share expression patterns with LTBP3: view

Primer Products

No data available for Protein tissue co-expression partners for LTBP3 Gene

Orthologs for LTBP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LTBP3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LTBP3 34
  • 90.59 (n)
  • 94.88 (a)
LTBP3 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LTBP3 34
  • 84.67 (n)
  • 88.78 (a)
LTBP3 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ltbp3 34
  • 87.04 (n)
  • 94.33 (a)
Ltbp3 16
Ltbp3 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LTBP3 34
  • 98.93 (n)
  • 98.8 (a)
LTBP3 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ltbp3 34
  • 87.1 (n)
  • 94.17 (a)
oppossum
(Monodelphis domestica)
Mammalia LTBP3 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LTBP3 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves LTBP3 35
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LTBP3 35
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ltbp3 34
  • 57.35 (n)
  • 54.53 (a)
ltbp3 35
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta frac 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
ManyToMany
-- 35
  • 23 (a)
ManyToMany
-- 35
  • 17 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 24 (a)
ManyToMany
Species where no ortholog for LTBP3 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)
  • worm (Caenorhabditis elegans)

Evolution for LTBP3 Gene

ENSEMBL:
Gene Tree for LTBP3 (if available)
TreeFam:
Gene Tree for LTBP3 (if available)

Paralogs for LTBP3 Gene

Paralogs for LTBP3 Gene

genes like me logo Genes that share paralogs with LTBP3: view

Variants for LTBP3 Gene

Sequence variations from dbSNP and Humsavar for LTBP3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1783211 -- 65,542,968(-) ccatc(C/T)atcca intron-variant
rs1787032 -- 65,559,454(+) CTAAT(C/T)GGGGA upstream-variant-2KB
rs34075471 -- 65,548,552(+) TTCCT(-/G)GGGAA intron-variant
rs34125278 -- 65,554,199(+) GCCAG(G/T)GGCGG nc-transcript-variant, reference, synonymous-codon
rs34255452 -- 65,545,775(+) ACACC(-/T)TTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LTBP3 Gene

Variant ID Type Subtype PubMed ID
esv1637796 CNV insertion 17803354
esv2671903 CNV deletion 23128226
esv987755 CNV insertion 20482838
nsv555212 CNV loss 21841781
nsv951018 CNV deletion 24416366

Variation tolerance for LTBP3 Gene

Residual Variation Intolerance Score: 9.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.88; 74.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LTBP3 Gene

Human Gene Mutation Database (HGMD)
LTBP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LTBP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTBP3 Gene

Disorders for LTBP3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LTBP3 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dental anomalies and short stature
  • verloes bourguignon syndrome
glaucoma 3, primary congenital, d
  • primary congenital glaucoma 3d
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
  • mspka
weill-marchesani syndrome 3, recessive
  • weill-marchesani syndrome 3
geleophysic dysplasia
  • geleophysic dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search LTBP3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LTBP3_HUMAN
  • Dental anomalies and short stature (DASS) [MIM:601216]: A disorder characterized by hypoplastic amelogenesis imperfecta, significant short stature, brachyolmia-like anomalies including platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Dental anomalies include widely spaced, small, yellow teeth, oligodontia, and severely reduced to absent enamel. {ECO:0000269 PubMed:19344874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LTBP3

Genetic Association Database (GAD)
LTBP3
Human Genome Epidemiology (HuGE) Navigator
LTBP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LTBP3
genes like me logo Genes that share disorders with LTBP3: view

No data available for Genatlas for LTBP3 Gene

Publications for LTBP3 Gene

  1. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. (PMID: 19344874) Noor A. … Vincent J.B. (Am. J. Hum. Genet. 2009) 3 4 22 65
  2. Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta. (PMID: 12154076) Penttinen C. … Keski-Oja J. (J. Cell Sci. 2002) 3 4 22 65
  3. Analysis of the expression pattern of the latent transforming growth factor beta binding protein isoforms in normal and diseased human liver reveals a new splice variant missing the proteinase-sensitive hinge region. (PMID: 9620332) Michel K. … Gressner A.M. (Hepatology 1998) 3 4 22 65
  4. Assessment of the association between genetic polymorphisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of Abdominal Aortic Aneurysm. (PMID: 19897194) Thompson A.R. … Humphries S.E. (Atherosclerosis 2010) 3 46 65
  5. Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. (PMID: 20587546) Nalpas B. … Abel L. (Gut 2010) 3 46 65

Products for LTBP3 Gene

Sources for LTBP3 Gene

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