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

    Gene ID: 126006, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Clone Names

    • FLJ27345, MGC41903, DKFZp686M0187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in neuronal cell body  

    General protein information

    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)

    NEW Try the new Transcript table

    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_001271830.2NP_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:4769
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:829
      GoLoco; GoLoco motif
    2. NM_174895.3NP_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:6385
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:2445
      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_006722639.4XP_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:2648
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    2. XM_024451346.2XP_024307114.1  Purkinje cell protein 2 homolog isoform X1

      Conserved Domains (2) summary
      smart00390
      Location:179201
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      pfam02188
      Location:140161
      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_054319751.1XP_054175726.1  Purkinje cell protein 2 homolog isoform X3

      UniProtKB/Swiss-Prot
      M0R2R7, Q3KRG7, Q8IVA1
    2. XM_054319749.1XP_054175724.1  Purkinje cell protein 2 homolog isoform X1

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

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

      UniProtKB/Swiss-Prot
      M0R2R7, Q3KRG7, Q8IVA1
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