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Ltbp2 Gene Detail
Summary
  • Symbol
    Ltbp2
  • Name
    latent transforming growth factor beta binding protein 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:99502
    NCBI Gene: 16997
  • Gene Overview
    MyGene.info: LTBP2
Location & Maps
more
  • Sequence Map
    Chr12:84783212-84876532 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      93321 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 39.39 cM, cytoband D
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    LTBP2, latent transforming growth factor beta binding protein 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    LTBP2, latent transforming growth factor beta binding protein 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3
  • Links
    NCBI Gene ID: 4053
    neXtProt AC: NX_Q14767

  • Chr Location
    14q24.3; chr14:74498183-74618609 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with human LTBP2 associations

Human Disease Mouse Models
       Glaucoma 3, Primary Congenital, D; GLC3D   OMIM: 613086
Glaucoma 3, Primary Infantile, B; GLC3B   OMIM: 600975
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma; MSPKA   OMIM: 251750
Weill-Marchesani Syndrome 3; WMS3   OMIM: 614819
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    8 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
    10
  • Chemically induced (other)
    1
  • Targeted
    9
  • Genomic Mutations
    1 involving Ltbp2
  • Incidental Mutations
Mice homozygous for a null allele exhibit early embryonic lethality prior to E6.5. Mice homozygous for a different null allele are viable, fertile, and developmentally normal but develop lens dislocations due to ciliary zonule fragmentation.
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 OTTMUSG00000036546 VEGA Gene Model | MGI Sequence Detail 93321 C57BL/6J ±  kb
transcript OTTMUST00000093715 VEGA | MGI Sequence Detail 6769 Not Applicable  
polypeptide OTTMUSP00000052053 VEGA | MGI Sequence Detail 1809 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    562 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 27
    Genomic 1
    cDNA 26

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-16278, MGI:2145013
References
more
  • Summaries
    All 31
    Developmental Gene Expression 5
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:37693 Nakajima Y, et al., Extracellular fibrillar structure of latent TGF beta binding protein-1: role in TGF beta-dependent endothelial-mesenchymal transformation during endocardial cushion tissue formation in mouse embryonic heart. J Cell Biol. 1997 Jan 13;136(1):193-204
  • Latest
    J:214736 Inoue T, et al., Latent TGF-beta binding protein-2 is essential for the development of ciliary zonule microfibrils. Hum Mol Genet. 2014 Nov 1;23(21):5672-82

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
11/22/2016
MGI 6.06
The Jackson Laboratory