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

Gene ID: 18545, updated on 2-Nov-2024

Summary

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 G protein-coupled opsin signaling pathway. Is expressed in central nervous system and retina. Orthologous to human PCP2 (Purkinje cell protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward cerebellum adult (RPKM 249.4) See more
Orthologs
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Genomic context

See Pcp2 in Genome Data Viewer
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

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within G protein-coupled opsin signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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_001129803.2NP_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:6385
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    pfam02188
    Location:2445
    GoLoco; GoLoco motif
  2. NM_001129804.2NP_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:4769
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    pfam02188
    Location:829
    GoLoco; GoLoco motif
  3. NM_001372442.1NP_001359371.1  Purkinje cell protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    smart00390
    Location:4870
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    pfam02188
    Location:929
    GoLoco; GoLoco motif
  4. NM_001372443.1NP_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:6385
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    pfam02188
    Location:2545
    GoLoco; GoLoco motif
  5. NM_001372444.1NP_001359373.1  Purkinje cell protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (1) summary
    smart00390
    Location:2749
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  6. NM_001372445.1NP_001359374.1  Purkinje cell protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (1) summary
    smart00390
    Location:2749
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  7. NM_001372446.1NP_001359375.1  Purkinje cell protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (1) summary
    smart00390
    Location:2749
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  8. NM_001372447.1NP_001359376.1  Purkinje cell protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (1) summary
    smart00390
    Location:2749
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  9. NM_001372448.1NP_001359377.1  Purkinje cell protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (1) summary
    smart00390
    Location:2749
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  10. NM_001372449.1NP_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:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  11. NM_001372450.1NP_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:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  12. NM_001372451.1NP_001359380.1  Purkinje cell protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/TrEMBL
    A0A0R4IZX8
    Conserved Domains (1) summary
    smart00390
    Location:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  13. NM_001372452.1NP_001359381.1  Purkinje cell protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/TrEMBL
    A0A0R4IZX8
    Conserved Domains (1) summary
    smart00390
    Location:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  14. NM_001372453.1NP_001359382.1  Purkinje cell protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/TrEMBL
    A0A0R4IZX8
    Conserved Domains (1) summary
    smart00390
    Location:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  15. NM_001372454.1NP_001359383.1  Purkinje cell protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/TrEMBL
    A0A0R4IZX8
    Conserved Domains (1) summary
    smart00390
    Location:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  16. NM_001372455.1NP_001359384.1  Purkinje cell protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/TrEMBL
    A0A0R4IZX8
    Conserved Domains (1) summary
    smart00390
    Location:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  17. NM_001372456.1NP_001359385.1  Purkinje cell protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/TrEMBL
    A0A0R4IZX8
    Conserved Domains (1) summary
    smart00390
    Location:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  18. NM_008790.3NP_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:2648
    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)