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Ldb3 Gene Detail
Summary
  • Symbol
    Ldb3
  • Name
    LIM domain binding 3
  • Synonyms
    cypher, ZASP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1344412
    NCBI Gene: 24131
  • Gene Overview
    MyGene.info: LDB3
Location & Maps
more
  • Sequence Map
    Chr14:34526699-34588681 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      61983 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    LDB3, LIM domain binding 3
  • Vertebrate Orthologs
    4
  • Human Ortholog
    LDB3, LIM domain binding 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CMD1C, CMH24, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP
  • Links
    NCBI Gene ID: 11155
    neXtProt AC: NX_O75112

  • Chr Location
    10q22.3-q23.2; chr10:86666717-86736072 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Ldb3 mouse models; 1 with human LDB3 associations

Human Disease Mouse Models
       Cardiomyopathy, Dilated, 1c, with or without Left Ventricular Noncompaction;   OMIM: 601493 View 2 models
Myopathy, Congenital   OMIM: 255300 View 1 model
Myopathy, Myofibrillar, 1; MFM1   OMIM: 601419 View 1 model
       Myopathy, Myofibrillar, 4; MFM4   OMIM: 609452
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 6 alleles in 4 genetic backgrounds
    3 images
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    20
  • Gene trapped
    11
  • Targeted
    9
  • Incidental Mutations
Homozygous mutation of this gene results in lethality within a few days after birth from muscle abnormalities. Mutant mice exhibit myopathy, dysphagia, heart vascular congestion, dilated heart ventricles, cyanosis, and respiratory distress.
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 ENSMUSG00000021798 Ensembl Gene Model | MGI Sequence Detail 61983 C57BL/6J ±  kb
transcript ENSMUST00000022327 Ensembl | MGI Sequence Detail 5040 Not Applicable  
polypeptide ENSMUSP00000022327 Ensembl | MGI Sequence Detail 723 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    608 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 81
    cDNA 76
    Primer pair 5

    Microarray probesets 7
Other
Accession IDs
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MGI:2145842
References
more
  • Summaries
    All 49
    Developmental Gene Expression 13
    Diseases 2
    Gene Ontology 9
    Phenotypes 10
  • Earliest
    J:55277 Faulkner G, et al., ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol. 1999 Jul 26;146(2):465-75
  • Latest
    J:221671 Scheffer DI, et al., Gene Expression by Mouse Inner Ear Hair Cells during Development. J Neurosci. 2015 Apr 22;35(16):6366-80

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
05/17/2016
MGI 6.03
The Jackson Laboratory