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Ltbp3
Gene Detail
Symbol

Name
ID
Ltbp3
latent transforming growth factor beta binding protein 3
MGI:1101355
Synonyms
Ltbp2
Feature Type
protein coding gene
Genetic Map
Chromosome 19
4.34 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr19:5740904-5758532 bp, + strand
From NCBI annotation of GRCm38

  17629 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7405  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

HCOP human homology predictions: LTBP3
Gene Tree: Ltbp3

Human
homologs
LTBP3, latent transforming growth factor beta binding protein 3
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 4054
neXtProt AC: NX_Q9NS15

Human Synonyms: LTBP2, LTBP-3, pp6425, STHAG6

Human Chr (Location): 11q13.1; chr11:65538559-65558361 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human LTBP3

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Gene trapped(3) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels.
 
Phenotype Images(4)
Interactions
Ltbp3 interacts with 96 markers (Mir10a, Mir23a, Mir23b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process bone morphogenesis, bone remodeling, ...
Component extracellular exosome, extracellular matrix, ...
Function calcium ion binding, growth factor binding, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (344)    Tissues (133)    Images (51)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 344
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ltbp3    NEW 
Molecular
reagents
All nucleic(27) Genomic(2) cDNA(21) Primer pair(3) Other(1)
Microarray probesets(7)
Other database
links
Ensembl Gene Model ENSMUSG00000024940 (Evidence)
Entrez Gene 16998 (Evidence)
NIA Mouse Gene Index U038709
Consensus CDS Project CCDS37891.1
International Mouse Phenotyping Consortium Status Ltbp3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 16998 NCBI Gene Model | MGI Sequence Detail 17629 C57BL/6J ±  kb
transcript NM_008520 RefSeq | MGI Sequence Detail 5209 C57BL/6 
polypeptide Q61810 UniProt | EBI | MGI Sequence Detail 1268 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(16) UniProt(3)
Polymorphisms
SNPs within 2kb(71 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR017878 TB domain
Protein Ontology PR:000009974 latent-transforming growth factor beta-binding protein 3
Graphical View of Protein Domain Structure
References
(Earliest) J:22443 Li X, et al., Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2). Mamm Genome. 1995 Jan;6(1):42-5
(Latest) J:220985 Huckert M, et al., Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum Mol Genet. 2015 Jun 1;24(11):3038-49
All references(46)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory