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
  • 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 TGF-Beta Pathway. 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

Additional gene information 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 for LTBP3 Gene

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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for LTBP3 Gene
chr11:65,538,559-65,558,930
(GRCh38/hg38)
Size:
20,372 bases
Orientation:
Minus strand
chr11:65,306,030-65,326,401
(GRCh37/hg19)
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 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

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
InterPro:
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:0019838 growth factor binding IEA --
GO:0050431 transforming growth factor beta binding IBA,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

Clone 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. 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LTBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
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

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: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
GO:0045780 positive regulation of bone resorption IEA --
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 :

CRISPR Products

Clone 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

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(4.4)
  • Nervous system(4.4)
  • Spleen(4.3)
  • Eye(3.6)
  • Muscle(2.6)
  • Heart(2.4)
  • Kidney(2)
  • Lung(2)
  • Skin(2)
  • Stomach(2)
  • Thyroid gland(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

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

Orthologs for LTBP3 Gene