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Pln Gene Detail
Summary
  • Symbol
    Pln
  • Name
    phospholamban
  • Synonyms
    PLB
  • Feature Type
    protein coding gene
  • IDs
    MGI:97622
    NCBI Gene: 18821
  • Gene Overview
    MyGene.info: PLN
Location & Maps
more
  • Sequence Map
    Chr10:53337686-53345999 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8314 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 27.11 cM, cytoband B3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PLN, phospholamban
  • Vertebrate Orthologs
    5
  • Human Ortholog
    PLN, phospholamban
    Orthology source: HGNC
  • Synonyms
    CMD1P, CMH18, PLB
  • Links
    NCBI Gene ID: 5350
    neXtProt AC: NX_P26678

  • Chr Location
    6q22.1; chr6:118548279-118560424 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human PLN associations

Human Disease Mouse Models
       Cardiomyopathy, Dilated, 1p; CMD1P   OMIM: 609909
Cardiomyopathy, Familial Hypertrophic, 18; CMH18   OMIM: 613874
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 6 alleles in 5 genetic backgrounds
    24 phenotypes from multigenic genotypes
    1 images
    76 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
    11
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    1
  • Transgenic
    8
  • Genomic Mutations
    2 involving Pln
Homozygotes for a targeted null mutation exhibit enhanced myocardial function without altered heart rate, but do not respond to the beta-agonist isoproterenol. Mutants are overtly normal and fertile.
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 18821 NCBI Gene Model | MGI Sequence Detail 8314 C57BL/6J ±  kb
transcript NM_001141927 RefSeq | MGI Sequence Detail 2480 C57BL/6  
polypeptide P61014 UniProt | EBI | MGI Sequence Detail 52 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    52 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 166
    cDNA 162
    Primer pair 4

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-13362
References
more
  • Summaries
    All 121
    Developmental Gene Expression 16
    Gene Ontology 16
    Phenotypes 76
  • Earliest
    J:3416 Ganim JR, et al., Mouse phospholamban gene expression during development in vivo and in vitro. Circ Res. 1992 Nov;71(5):1021-30
  • Latest
    J:234490 Davis J, et al., A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy. Cell. 2016 May 19;165(5):1147-59

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
09/20/2016
MGI 6.05
The Jackson Laboratory