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Ltbp3 Gene Detail
Summary
  • Symbol
    Ltbp3
  • Name
    latent transforming growth factor beta binding protein 3
  • Synonyms
    Ltbp2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1101355
    NCBI Gene: 16998
  • Gene Overview
    MyGene.info: LTBP3
Location & Maps
more
  • Sequence Map
    Chr19:5740904-5758532 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17629 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 4.34 cM, cytoband B
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    LTBP3, latent transforming growth factor beta binding protein 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    LTBP3, latent transforming growth factor beta binding protein 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DASS, LTBP2, LTBP-3, pp6425, STHAG6
  • Links
    NCBI Gene ID: 4054
    neXtProt AC: NX_Q9NS15

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

Human Diseases
more
  • Diseases
    1 with Ltbp3 mouse models; 1 with human LTBP3 associations

Human Disease Mouse Models
       Dental Anomalies and Short Stature; DASS   OMIM: 601216 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 2 alleles in 2 genetic backgrounds
    4 images
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Gene trapped
    3
  • Targeted
    2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    71 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000009974 latent-transforming growth factor beta-binding protein 3
  • InterPro Domains
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR000742 EGF-like domain
    IPR000152 EGF-type aspartate/asparagine hydroxylation site
    IPR009030 Growth factor receptor cysteine-rich domain
    IPR017878 TB domain
Molecular
Reagents
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  • All nucleic 27
    Genomic 2
    cDNA 21
    Primer pair 3
    Other 1

    Microarray probesets 7
References
more
  • Summaries
    All 46
    Developmental Gene Expression 12
    Diseases 1
    Gene Ontology 9
    Phenotypes 12
  • 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:227267 Zilberberg L, et al., Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome. Proc Natl Acad Sci U S A. 2015 Nov 10;112(45):14012-7

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
08/17/2016
MGI 6.05
The Jackson Laboratory