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Pdlim3 Gene Detail
Summary
  • Symbol
    Pdlim3
  • Name
    PDZ and LIM domain 3
  • Synonyms
    ALP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859274
    NCBI Gene: 53318
  • Gene Overview
    MyGene.info: PDLIM3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:45885461-45919548 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      34088 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 25.86 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PDLIM3, PDZ and LIM domain 3
  • Vertebrate Orthologs
    4
  • Human Ortholog
    PDLIM3, PDZ and LIM domain 3
    Orthology source: HGNC
  • Synonyms
    ALP
  • Links
    NCBI Gene ID: 27295
    neXtProt AC: NX_Q53GG5
    UniProt: Q53GG5

  • Chr Location
    4q35.1; chr4:185500660-185535606 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pdlim3 mouse models

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
    15 phenotypes from 2 alleles in 2 genetic backgrounds
    7 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.
Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000061186 VEGA Gene Model | MGI Sequence Detail 34088 C57BL/6J ±  kb
    transcript OTTMUST00000149400 VEGA | MGI Sequence Detail 1479 Not Applicable  
    polypeptide OTTMUSP00000077530 VEGA | MGI Sequence Detail 364 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      261 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      cDNA 67

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142561
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 4
      Phenotypes 7
    • Earliest
      J:71343 Xia H, et al., Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. J Cell Biol. 1997 Oct 20;139(2):507-15
    • Latest
      J:243708 Bang ML, Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins. J Cell Physiol. 2017 Jan;232(1):38-52

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory