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Ltbp4 Gene Detail
Summary
  • Symbol
    Ltbp4
  • Name
    latent transforming growth factor beta binding protein 4
  • Synonyms
    2310046A13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1321395
    NCBI Gene: 108075
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:27004561-27037117 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 15.87 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    881 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1321395
 protein coding gene Chr7:27004561-27039142 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031906
 protein coding gene Chr7:25944310-25978052 (-)
A/J MGP_AJ_G0031885
 protein coding gene Chr7:25325848-25357880 (-)
AKR/J MGP_AKRJ_G0031815
 protein coding gene Chr7:25994583-26026827 (-)
BALB/cJ MGP_BALBcJ_G0031890
 protein coding gene Chr7:25544423-25576668 (-)
C3H/HeJ MGP_C3HHeJ_G0031612
 protein coding gene Chr7:26374759-26408771 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032355
 protein coding gene Chr7:26798898-26831554 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029407
 protein coding gene Chr7:26559112-26591669 (-)
CAST/EiJ MGP_CASTEiJ_G0030947
 protein coding gene Chr7:19677563-19714795 (-)
CBA/J MGP_CBAJ_G0031577
 protein coding gene Chr7:27989652-28023790 (-)
DBA/2J MGP_DBA2J_G0031729
 protein coding gene Chr7:25122511-25154961 (-)
FVB/NJ MGP_FVBNJ_G0031685
 protein coding gene Chr7:25211810-25245105 (-)
LP/J MGP_LPJ_G0031809
 protein coding gene Chr7:26273241-26308202 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031720
 protein coding gene Chr7:27571254-27605571 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032386
 protein coding gene Chr7:25531379-25568112 (-)
PWK/PhJ MGP_PWKPhJ_G0030671
 protein coding gene Chr7:20159274-20192087 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030505
 protein coding gene Chr7:16516231-16553895 (-)
WSB/EiJ MGP_WSBEiJ_G0031055
 protein coding gene Chr7:25817492-25851868 (-)



Homology
more
  • Human Ortholog
    LTBP4, latent transforming growth factor beta binding protein 4
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LTBP4, latent transforming growth factor beta binding protein 4
  • Synonyms
    ARCL1C, LTBP-4, LTBP4L, LTBP4S
  • Links
    NCBI Gene ID: 8425
    neXtProt AC: NX_Q8N2S1
    UniProt: Q8N2S1

  • Chr Location
    19q13.2; chr19:40592883-40629820 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ltbp4 mouse models; 1 with human LTBP4 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    47 phenotypes from 3 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    32 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.
Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    715
  • Tissues
    8
  • cDNA Data
    98
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040488 Ensembl Gene Model | MGI Sequence Detail 32557 C57BL/6J ±  kb
    transcript ENSMUST00000038618 Ensembl | MGI Sequence Detail 5386 Not Applicable  
    polypeptide ENSMUSP00000037536 Ensembl | MGI Sequence Detail 1666 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000009975 latent-transforming growth factor beta-binding protein 4
      (term hierarchy)
    • 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
      IPR050751 Extracellular matrix structural protein
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR049883 NOTCH1 EGF-like calcium-binding domain
      IPR017878 TB domain
      IPR036773 TGF-beta binding (TB) domain superfamily
      IPR052080 von Willebrand factor C/EGF & Fibrillin
    • GlyGen
      Q8K4G1 7 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 101
      cDNA 100
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1916894
    References
    more
    • Summaries
      All 76
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 11
      Phenotypes 32
    • Earliest
      J:47007 Thorey IS, et al., Selective disruption of genes transiently induced in differentiating mouse embryonic stem cells by using gene trap mutagenesis and site-specific recombination. Mol Cell Biol. 1998 May;18(5):3081-8
    • Latest
      J:343095 Honeycutt SE, et al., Netrin 1 directs vascular patterning and maturity in the developing kidney. Development. 2023 Nov 15;150(22)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory