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

Gene ID: 126006, updated on 10-Dec-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, Dec 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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

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