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    PCP2 Purkinje cell protein 2 [ Homo sapiens (human) ]

    Gene ID: 126006, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PCP2provided by HGNC
    Official Full Name
    Purkinje cell protein 2provided by HGNC
    Primary source
    HGNC:HGNC:30209
    See related
    Ensembl:ENSG00000174788 MIM:619344; AllianceGenome:HGNC:30209
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCD5; GPSM4
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream of or within G protein-coupled opsin signaling pathway. Predicted to be located in neuronal cell body. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 11.4), salivary gland (RPKM 2.1) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCP2 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7631615..7637006, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7632498..7637891, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7696501..7698605, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene calmodulin regulated spectrin associated protein family member 3 Neighboring gene microRNA 6792 Neighboring gene XPA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13889 Neighboring gene PET100 cytochrome c oxidase chaperone Neighboring gene syntaxin binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7701542-7702069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7702070-7702598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7702599-7703125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13891 Neighboring gene RPS27A pseudogene 19 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A promoter element with enhancer properties, and the orphan nuclear receptor RORalpha, are required for Purkinje cell-specific expression of a Gi/o modulator. Serinagaoglu Y, et al. Mol Cell Neurosci, 2007 Mar. PMID 17215137
    2. 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. Zhang X, et al. Brain Res Mol Brain Res, 2002 Sep 30. PMID 12399102
    3. Retinal ON bipolar cells express a new PCP2 splice variant that accelerates the light response. Xu Y, et al. J Neurosci, 2008 Sep 3. PMID 18768681, Free PMC Article
    4. G-protein alpha subunit interaction and guanine nucleotide dissociation inhibitor activity of the dual GoLoco motif protein PCP-2 (Purkinje cell protein-2). Willard FS, et al. Cell Signal, 2006 Aug. PMID 16298104
    5. Interaction of heterotrimeric G protein Galphao with Purkinje cell protein-2. Evidence for a novel nucleotide exchange factor. Luo Y, et al. J Biol Chem, 1999 Apr 16. PMID 10196137

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. characterization of the mouse 136 aa conserved isoform, Ret-PCP2
      Title: Retinal ON bipolar cells express a new PCP2 splice variant that accelerates the light response.
    2. The data demonstrate that PCP-2 is a comparatively weak GoLoco motif protein that exhibits highest affinity interactions and GDI activity toward Galphai1, Galphai2, and Galphai3 subunits.
      Title: G-protein alpha subunit interaction and guanine nucleotide dissociation inhibitor activity of the dual GoLoco motif protein PCP-2 (Purkinje cell protein-2).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ27345, MGC41903, DKFZp686M0187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Purkinje cell protein 2 homolog
    Names
    CTD-3214H19.6
    Purkinje cell-specific protein 2
    Purkinje cell-specific protein L7

    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_001271830.2 → NP_001258759.1  Purkinje cell protein 2 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC008763, BX281028
      Consensus CDS
      CCDS62521.1
      UniProtKB/Swiss-Prot
      Q8IVA1
      Related
      ENSP00000472761.1, ENST00000598935.5
      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

    2. NM_174895.3 → NP_777555.1  Purkinje cell protein 2 homolog isoform 1

      See identical proteins and their annotated locations for NP_777555.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC025387, BC038715
      Consensus CDS
      CCDS32893.1
      UniProtKB/Swiss-Prot
      M0R2R7, Q3KRG7, Q8IVA1
      Related
      ENSP00000310585.4, ENST00000311069.6
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7631615..7637006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722639.4 → XP_006722702.1  Purkinje cell protein 2 homolog isoform X2

      See identical proteins and their annotated locations for XP_006722702.1

      Conserved Domains (1) summary
      smart00390
      Location:26 → 48
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

    2. XM_024451346.2 → XP_024307114.1  Purkinje cell protein 2 homolog isoform X1

      Conserved Domains (2) summary
      smart00390
      Location:179 → 201
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:140 → 161
      GoLoco; GoLoco motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7632498..7637891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319751.1 → XP_054175726.1  Purkinje cell protein 2 homolog isoform X3

      UniProtKB/Swiss-Prot
      M0R2R7, Q3KRG7, Q8IVA1

    2. XM_054319749.1 → XP_054175724.1  Purkinje cell protein 2 homolog isoform X1

    3. XM_054319752.1 → XP_054175727.1  Purkinje cell protein 2 homolog isoform X2

    4. XM_054319750.1 → XP_054175725.1  Purkinje cell protein 2 homolog isoform X3

      UniProtKB/Swiss-Prot
      M0R2R7, Q3KRG7, Q8IVA1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVA1.2 GenPept UniProtKB/Swiss-Prot:Q8IVA1

    Gene LinkOut

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

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