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Pnn Gene Detail
Summary
  • Symbol
    Pnn
  • Name
    pinin
  • Synonyms
    D12Ertd512e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100514
    NCBI Gene: 18949
  • Gene Overview
    MyGene.info: PNN
Location & Maps
more
  • Sequence Map
    Chr12:59066919-59074017 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7099 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 26.00 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PNN, pinin, desmosome associated protein
  • Vertebrate Orthologs
    7
  • Human Ortholog
    PNN, pinin, desmosome associated protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DRS, DRSP, memA, SDK3
  • Links
    NCBI Gene ID: 5411
    neXtProt AC: NX_Q9H307

  • Chr Location
    14q21.1; chr14:39175183-39183218 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 4 alleles in 3 genetic backgrounds
    14 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
    26
  • Chemically induced (other)
    1
  • Gene trapped
    18
  • Targeted
    7
  • Genomic Mutations
    1 involving Pnn
  • Incidental Mutations
Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele show complete perinatal lethality, edema, axial skeletal abnormalities, cardiac outflow tract defects, cleft palate, and impaired development of the dorsal dermis and brown fat tissue.
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 18949 NCBI Gene Model | MGI Sequence Detail 7099 C57BL/6J ±  kb
transcript NM_008891 RefSeq | MGI Sequence Detail 3469 C57BL/6  
polypeptide O35691 UniProt | EBI | MGI Sequence Detail 725 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    45 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 120
    Genomic 1
    cDNA 114
    Primer pair 5

    Microarray probesets 5
Other
Accession IDs
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MGI:1261772, MGI:2144968
References
more
  • Summaries
    All 41
    Developmental Gene Expression 7
    Gene Ontology 4
    Phenotypes 14
  • Earliest
    J:42993 Ouyang P, et al., Cloning and analysis of cDNA encoding murine pinin. Gene. 1997 Sep 15;197(1-2):115-20
  • Latest
    J:214567 Joo JH, et al., Transcriptomic analysis of PNN- and ESRP1-regulated alternative pre-mRNA splicing in human corneal epithelial cells. Invest Ophthalmol Vis Sci. 2013 Jan;54(1):697-707

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory