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... See more...

Aliases for LTBP3 Gene

Aliases for LTBP3 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 3 2 3 5
  • Latent-Transforming Growth Factor Beta-Binding Protein 3 3 4
  • LTBP-3 3 4
  • Latent TGF Beta Binding Protein 3 3
  • GPHYSD3 3
  • STHAG6 3
  • Pp6425 3
  • LTBP2 3
  • LTBP3 5
  • 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 Geleophysic Dysplasia 3. Among its related pathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. Gene Ontology (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 Summary for LTBP3 Gene

  • Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.

Gene Wiki entry for LTBP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LTBP3 Gene

Genomics for LTBP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LTBP3 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 LTBP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LTBP3

Top Transcription factor binding sites by QIAGEN in the LTBP3 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • FOXO3
  • FOXO3a
  • GATA-2
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • Spz1

Genomic Locations for LTBP3 Gene

Latest Assembly
chr11:65,538,559-65,558,930
(GRCh38/hg38)
Size:
20,372 bases
Orientation:
Minus strand

Previous Assembly
chr11:65,306,030-65,325,830
(GRCh37/hg19 by Entrez Gene)
Size:
19,801 bases
Orientation:
Minus strand

chr11:65,306,276-65,326,401
(GRCh37/hg19 by Ensembl)
Size:
20,126 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. Interacts with EFEMP2 (PubMed:27339457).
    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 Asn89, Ser239, Asn349, Thr513, Thr514, Ser519, Ser561, Thr570, Asn845, Asn936, Thr978, and Asn1275
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LTBP3 Gene

Domains & Families for LTBP3 Gene

Gene Families for LTBP3 Gene

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

Protein Domains for LTBP3 Gene

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

Suggested Antigen Peptide Sequences for LTBP3 Gene

GenScript: Design optimal peptide antigens:
  • Latent transforming growth factor beta binding protein 3, isoform CRA_c (B9EG76_HUMAN)
  • Latent-transforming growth factor beta-binding protein 3 (LTBP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NS15

UniProtKB/Swiss-Prot:

LTBP3_HUMAN :
  • Belongs to the LTBP family.
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

UniProtKB/Swiss-Prot Function:
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.
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

Phenotypes From GWAS Catalog for LTBP3 Gene

Gene Ontology (GO) - Molecular Function for LTBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 27339457
GO:0019838 growth factor 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:

miRNA for LTBP3 Gene

miRTarBase miRNAs that target LTBP3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LTBP3

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. Secreted, extracellular space, extracellular matrix. Note=Secretion occurs after coexpression with TGFB1 and requires complexing with 'Cys-33' of the TGFB1 propeptide. {ECO:0000269 PubMed:12154076}.

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 LTBP3 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LTBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0062023 collagen-containing extracellular matrix IDA 16157329
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with LTBP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LTBP3 Gene

Pathways & Interactions for LTBP3 Gene

PathCards logo

SuperPathways for LTBP3 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 LTBP3: view

Pathways by source for LTBP3 Gene

54 Qiagen pathways for LTBP3 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

Gene Ontology (GO) - Biological Process for LTBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
GO:0030502 negative regulation of bone mineralization IEA --
GO:0032331 negative regulation of chondrocyte differentiation IEA --
GO:0036363 transforming growth factor beta activation 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

mRNA/cDNA for LTBP3 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
21 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 LTBP3

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

Expression for LTBP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for LTBP3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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: Expressed prominently in heart, skeletal muscle, prostate, testis, small intestine and ovary (PubMed:12154076). Isoform 1: Strongly expressed in pancreas and liver (PubMed:12154076).

Evidence on tissue expression from TISSUES for LTBP3 Gene

  • Intestine(4.6)
  • Liver(4.5)
  • Spleen(4.4)
  • Nervous system(4.3)
  • Eye(3.6)
  • Muscle(2.9)
  • Heart(2.8)
  • Lung(2.5)
  • Skin(2.3)
  • Kidney(2.3)
  • Pancreas(2.2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LTBP3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • chin
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • 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:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with LTBP3: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia LTBP3 30 31
  • 98.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LTBP3 30 31
  • 90.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ltbp3 30
  • 87.1 (n)
Mouse
(Mus musculus)
Mammalia Ltbp3 30 17 31
  • 87.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LTBP3 31
  • 86 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LTBP3 30 31
  • 84.67 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LTBP3 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LTBP3 31
  • 31 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LTBP3 31
  • 53 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ltbp3 30 31
  • 57.35 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta frac 31
  • 16 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 24 (a)
ManyToMany
-- 31
  • 23 (a)
ManyToMany
-- 31
  • 17 (a)
ManyToMany
Species where no ortholog for LTBP3 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)
  • Worm (Caenorhabditis elegans)

Evolution for LTBP3 Gene

ENSEMBL:
Gene Tree for LTBP3 (if available)
TreeFam:
Gene Tree for LTBP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LTBP3: view image

Paralogs for LTBP3 Gene

Paralogs for LTBP3 Gene

(12) SIMAP similar genes for LTBP3 Gene using alignment to 14 proteins:

  • LTBP3_HUMAN
  • B9EG76_HUMAN
  • E9PJR2_HUMAN
  • E9PKW1_HUMAN
  • E9PPT7_HUMAN
  • E9PQR0_HUMAN
  • E9PR75_HUMAN
  • E9PR84_HUMAN
  • E9PRF2_HUMAN
  • F5GWC4_HUMAN
  • H0YC99_HUMAN
  • H0YCQ2_HUMAN
  • H0YCX6_HUMAN
  • H0YE75_HUMAN
genes like me logo Genes that share paralogs with LTBP3: view

Variants for LTBP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LTBP3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
847970 Uncertain Significance: Dental anomalies and short stature 65,540,609(-) C/T
NM_001130144.3(LTBP3):c.2983G>A (p.Asp995Asn)
MISSENSE
856916 Uncertain Significance: Dental anomalies and short stature 65,543,226(-) T/TGTAGGGGATG
NM_001130144.3(LTBP3):c.2477-12_2477-3dup
INTRON
859766 Uncertain Significance: Dental anomalies and short stature 65,547,914(-) G/C
NM_001130144.3(LTBP3):c.1846+6C>G
INTRON
863618 Uncertain Significance: Dental anomalies and short stature 65,539,133(-) C/T
NM_001130144.3(LTBP3):c.3859G>A (p.Gly1287Ser)
MISSENSE
933976 Uncertain Significance: Dental anomalies and short stature 65,557,854(-) C/CCAGCAGCAGCAG
NM_001130144.3(LTBP3):c.76CTG[14] (p.Leu32_Leu35dup)
INFRAME_INSERTION,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LTBP3 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 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)

Additional Variant Information for LTBP3 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for LTBP3 Gene

MalaCards: The human disease database

(33) MalaCards diseases for LTBP3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
dental anomalies and short stature
  • dass
geleophysic dysplasia 3
  • gphysd3
acromicric dysplasia
  • acmicd
geleophysic dysplasia
  • geleophysic dwarfism
brachyolmia
  • brachyrachia
- 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 variants affecting the gene represented in this entry.
  • Geleophysic dysplasia 3 (GPHYSD3) [MIM:617809]: A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant. {ECO:0000269 PubMed:27068007}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LTBP3

Genetic Association Database
(GAD)
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 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 JB (American journal of human genetics 2009) 3 4 23 74
  2. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. (PMID: 27068007) McInerney-Leo AM … Cormier-Daire V (Journal of medical genetics 2016) 3 4 74
  3. 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 (Journal of cell science 2002) 3 4 23
  4. 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 AM (Hepatology (Baltimore, Md.) 1998) 3 4 23
  5. Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. (PMID: 27339457) Sasaki T … von der Mark K (Matrix biology : journal of the International Society for Matrix Biology 2016) 3 4

Products for LTBP3 Gene