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

Gene ID: 126006, updated on 18-Aug-2020

Summary

Official Symbol
PCP2provided by HGNC
Official Full Name
Purkinje cell protein 2provided by HGNC
Primary source
HGNC:HGNC:30209
See related
Ensembl:ENSG00000174788
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
GPSM4
Expression
Biased expression in testis (RPKM 11.4), salivary gland (RPKM 2.1) and 8 other tissues See more
Orthologs

Genomic context

See PCP2 in Genome Data Viewer
Location:
19p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7631614..7637026, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7696501..7701282, 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 PET100 cytochrome c oxidase chaperone Neighboring gene syntaxin binding protein 2 Neighboring gene RPS27A pseudogene 19

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ27345, MGC41903, DKFZp686M0187

Gene Ontology Provided by GOA

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

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)

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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    7631614..7637026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026251.2XP_016881740.1  Purkinje cell protein 2 homolog isoform X2

    UniProtKB/Swiss-Prot
    Q8IVA1
    Conserved Domains (2) summary
    smart00390
    Location:6385
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    pfam02188
    Location:2445
    GoLoco; GoLoco motif
  2. XM_017026250.2XP_016881739.1  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
  3. XM_017026249.2XP_016881738.1  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
  4. XM_006722639.3XP_006722702.1  Purkinje cell protein 2 homolog isoform X3

    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
  5. XM_017026252.2XP_016881741.1  Purkinje cell protein 2 homolog isoform X3

    Conserved Domains (1) summary
    smart00390
    Location:2648
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
  6. XM_024451346.1XP_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
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