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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
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:5740904-5758532 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 4.34 cM, cytoband B
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    71 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1101355
protein coding gene Chr19:5740904-5758532 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024727
protein coding gene Chr19:2731064-2748702 (+)
A/J MGP_AJ_G0024693
protein coding gene Chr19:2581023-2598652 (+)
AKR/J MGP_AKRJ_G0024666
protein coding gene Chr19:2649461-2667114 (+)
BALB/cJ MGP_BALBcJ_G0024693
protein coding gene Chr19:2576270-2593898 (+)
C3H/HeJ MGP_C3HHeJ_G0024461
protein coding gene Chr19:2667605-2688666 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025140
protein coding gene Chr19:2799915-2815621 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022570
protein coding gene Chr19:2489738-2507950 (+)
CAST/EiJ MGP_CASTEiJ_G0023933
protein coding gene Chr19:2685160-2702762 (+)
CBA/J MGP_CBAJ_G0024433
protein coding gene Chr19:2924841-2945497 (+)
DBA/2J MGP_DBA2J_G0024560
protein coding gene Chr19:2576621-2594290 (+)
FVB/NJ MGP_FVBNJ_G0024526
protein coding gene Chr19:2573249-2590875 (+)
LP/J MGP_LPJ_G0024646
protein coding gene Chr19:2702667-2720113 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024556
protein coding gene Chr19:2763687-2781355 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025188
protein coding gene Chr19:2668113-2685661 (+)
PWK/PhJ MGP_PWKPhJ_G0023679
protein coding gene Chr19:2600044-2618253 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023484
protein coding gene Chr19:2653468-2673803 (+)
WSB/EiJ MGP_WSBEiJ_G0023995
protein coding gene Chr19:2678824-2696501 (+)



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: HomoloGene, HGNC
  • Synonyms
    DASS, GPHYSD3, LTBP2, LTBP-3, pp6425, STHAG6
  • Links
    NCBI Gene ID: 4054
    neXtProt AC: NX_Q9NS15
    UniProt: Q9NS15

  • Chr Location
    11q13.1; chr11:65538559-65558388 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    50 phenotypes from 3 alleles in 3 genetic backgrounds
    4 images
    14 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16998 NCBI Gene Model | MGI Sequence Detail 17629 C57BL/6J ±  kb
    transcript NM_008520 RefSeq | MGI Sequence Detail 5194 C57BL/6  
    polypeptide Q61810 UniProt | EBI | MGI Sequence Detail 1268 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • 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 superfamily
      IPR017878 TB domain
      IPR036773 TGF-beta binding (TB) domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 2
      cDNA 22
      Primer pair 3
      Other 1

      Microarray probesets 7
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 12
      Diseases 1
      Gene Ontology 9
      Phenotypes 14
    • 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
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory