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    Pcp2 Purkinje cell protein 2 (L7) [ Mus musculus (house mouse) ]

    Gene ID: 18545, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Pcp2provided by MGI
    Official Full Name
    Purkinje cell protein 2 (L7)provided by MGI
    Primary source
    MGI:MGI:97508
    See related
    Ensembl:ENSMUSG00000004630 AllianceGenome:MGI:97508
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    L7; Pcp-2
    Summary
    Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within rhodopsin mediated signaling pathway. Located in neuronal cell body. Is expressed in central nervous system and retina. Orthologous to human PCP2 (Purkinje cell protein 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward cerebellum adult (RPKM 249.4) See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 A1.1; 8 1.92 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (3673369..3675547, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (3623369..3625547, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene calmodulin regulated spectrin-associated protein family, member 3 Neighboring gene STARR-seq mESC enhancer starr_20594 Neighboring gene XPA binding protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E3766 Neighboring gene PET100 homolog Neighboring gene syntaxin binding protein 2 Neighboring gene resistin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Hyperactivation of mTORC1 disrupts cellular homeostasis in cerebellar Purkinje cells. Sakai Y, et al. Sci Rep, 2019 Feb 26. PMID 30808980, Free PMC Article
    2. Expression of a novel splicing variant of Pcp2 in closely related laboratory rodents. Przybyła MA, et al. Genet Mol Res, 2016 Aug 12. PMID 27525924
    3. Developmental upregulation of an alternative form of pcp2 with reduced GDI activity. Barski JJ, et al. Cerebellum, 2014 Apr. PMID 24092530, Free PMC Article
    4. Sex-dependent behavioral functions of the Purkinje cell-specific Gαi/o binding protein, Pcp2(L7). Walton JC, et al. Cerebellum, 2012 Dec. PMID 22528962, Free PMC Article
    5. Sensorimotor enhancement in mouse mutants lacking the Purkinje cell-specific Gi/o modulator, Pcp2(L7). Iscru E, et al. Mol Cell Neurosci, 2009 Jan. PMID 18930827, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New observations from this study include altered expression of Pcp2 and Limp2 in Npc1 mutant mice relative to control, with Pcp2 exhibiting multiple isoforms and specific to the cerebella. This study provides valuable insight into pathways altered in the late-stage pathophysiology of NPC1
      Title: Quantitative, Label-Free Proteomics in the Symptomatic Niemann-Pick, Type C1 Mouse Model Using Standard Flow Liquid Chromatography and Thermal Focusing Electrospray Ionization.
    2. A novel Pcp2 transcript is particular to mouse cerebellar Purkinje cells and retinal bipolar neurons.
      Title: Expression of a novel splicing variant of Pcp2 in closely related laboratory rodents.
    3. Study describes alternative splicing of the pcp2/L7 gene; biochemical properties of short and long form differ
      Title: Developmental upregulation of an alternative form of pcp2 with reduced GDI activity.
    4. The results of this study showed that L7-PP2B mice, which suffer from impaired intrinsic plasticity and synaptic potentiation of their Purkinje cells.
      Title: Cerebellar potentiation and learning a whisker-based object localization task with a time response window.
    5. This study characterized the Cre-positive retinal ganglion cells in a PCP2 (Purkinje cell protein 2)-cre mouse line. We found that all of the Cre-positive retinal ganglion cells were bistratified retinal ganglion cells.
      Title: Characterization of multiple bistratified retinal ganglion cells in a purkinje cell protein 2-Cre transgenic mouse line.
    6. both L7 genotype and sex contribute to both acquisition and extinction of fear conditioning is affected in Pcp2(L7) mutants
      Title: Sex-dependent behavioral functions of the Purkinje cell-specific Gαi/o binding protein, Pcp2(L7).
    7. Results suggest that the Pcp2(L7) protein acts as a sensorimotor damper that modulates time- and sense-dependent changes in motor responses.
      Title: Sensorimotor enhancement in mouse mutants lacking the Purkinje cell-specific Gi/o modulator, Pcp2(L7).
    8. We conclude that PCP2 facilitates cation channels closure in the dark, shortens the rise time of the light response directly, and accelerates the decay time indirectly via the inhibitory network.
      Title: Retinal ON bipolar cells express a new PCP2 splice variant that accelerates the light response.
    9. Two mRNA forms predict two forms of the L7/Pcp-2 protein, which are both highly conserved across species.In mouse both mRNA forms are detectable in dendrites but their relative proportions change during development.
      Title: Conservation of the developmentally regulated dendritic localization of a Purkinje cell-specific mRNA that encodes a G-protein modulator: comparison of rodent and human Pcp2(L7) gene structure and expression.
    10. effect on expression of cre recombinase
      Title: L7/Pcp-2-specific expression of Cre recombinase using knock-in approach.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase regulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within rhodopsin mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Purkinje cell protein 2
    Names
    Purkinje cell-specific protein L7
    protein PCD-5
    retinal Purkinje cell protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001129803.2 → NP_001123275.1  Purkinje cell protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001123275.1

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Consensus CDS
      CCDS52471.1
      UniProtKB/TrEMBL
      A8IK50
      Related
      ENSMUSP00000121079.2, ENSMUST00000136105.8
      Conserved Domains (2) summary
      smart00390
      Location:63 → 85
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:24 → 45
      GoLoco; GoLoco motif

    2. NM_001129804.2 → NP_001123276.1  Purkinje cell protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001123276.1

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Consensus CDS
      CCDS52470.1
      UniProtKB/Swiss-Prot
      P12660, P22941, Q3TV53
      Related
      ENSMUSP00000122902.2, ENSMUST00000133459.8
      Conserved Domains (2) summary
      smart00390
      Location:47 → 69
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:8 → 29
      GoLoco; GoLoco motif

    3. NM_001372442.1 → NP_001359371.1  Purkinje cell protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (2) summary
      smart00390
      Location:48 → 70
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:9 → 29
      GoLoco; GoLoco motif

    4. NM_001372443.1 → NP_001359372.1  Purkinje cell protein 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A140LHG1, A0A140LI57
      Related
      ENSMUSP00000146399.2, ENSMUST00000144977.2
      Conserved Domains (2) summary
      smart00390
      Location:63 → 85
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:25 → 45
      GoLoco; GoLoco motif

    5. NM_001372444.1 → NP_001359373.1  Purkinje cell protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (1) summary
      smart00390
      Location:27 → 49
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    6. NM_001372445.1 → NP_001359374.1  Purkinje cell protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (1) summary
      smart00390
      Location:27 → 49
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    7. NM_001372446.1 → NP_001359375.1  Purkinje cell protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (1) summary
      smart00390
      Location:27 → 49
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    8. NM_001372447.1 → NP_001359376.1  Purkinje cell protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (1) summary
      smart00390
      Location:27 → 49
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    9. NM_001372448.1 → NP_001359377.1  Purkinje cell protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (1) summary
      smart00390
      Location:27 → 49
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    10. NM_001372449.1 → NP_001359378.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Consensus CDS
      CCDS22066.1
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    11. NM_001372450.1 → NP_001359379.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Related
      ENSMUSP00000121403.2, ENSMUST00000142431.8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    12. NM_001372451.1 → NP_001359380.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    13. NM_001372452.1 → NP_001359381.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    14. NM_001372453.1 → NP_001359382.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    15. NM_001372454.1 → NP_001359383.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    16. NM_001372455.1 → NP_001359384.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    17. NM_001372456.1 → NP_001359385.1  Purkinje cell protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170806
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    18. NM_008790.3 → NP_032816.1  Purkinje cell protein 2 isoform 3

      See identical proteins and their annotated locations for NP_032816.1

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Consensus CDS
      CCDS22066.1
      UniProtKB/TrEMBL
      A0A0R4IZX8
      Related
      ENSMUSP00000004749.7, ENSMUST00000004749.7
      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      3673369..3675547 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12660.2 GenPept UniProtKB/Swiss-Prot:P12660

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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