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    PRRG2 proline rich and Gla domain 2 [ Homo sapiens (human) ]

    Gene ID: 5639, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PRRG2provided by HGNC
    Official Full Name
    proline rich and Gla domain 2provided by HGNC
    Primary source
    HGNC:HGNC:9470
    See related
    Ensembl:ENSG00000126460 MIM:604429; AllianceGenome:HGNC:9470
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRGP2
    Summary
    The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in duodenum (RPKM 5.0), thyroid (RPKM 4.3) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRRG2 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49580617..49591004)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52580649..52591029)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50084573..50094261)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50031176-50031754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10920 Neighboring gene reticulocalbin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50059309-50060090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14948 Neighboring gene nitric oxide synthase interacting protein Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50070496-50070674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50087865-50088490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10924 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50095111-50095610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10925 Neighboring gene proline rich 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50135833-50136332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50139452-50140018 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50143247-50143916 Neighboring gene RAS related

    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. Proline-rich Gla protein 2 is a cell-surface vitamin K-dependent protein that binds to the transcriptional coactivator Yes-associated protein. Kulman JD, et al. Proc Natl Acad Sci U S A, 2007 May 22. PMID 17502622, Free PMC Article
    2. Primary structure and tissue distribution of two novel proline-rich gamma-carboxyglutamic acid proteins. Kulman JD, et al. Proc Natl Acad Sci U S A, 1997 Aug 19. PMID 9256434, Free PMC Article
    3. Identification of two novel transmembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissues. Kulman JD, et al. Proc Natl Acad Sci U S A, 2001 Feb 13. PMID 11171957, Free PMC Article
    4. Ligand binding to WW tandem domains of YAP2 transcriptional regulator is under negative cooperativity. Schuchardt BJ, et al. FEBS J, 2014 Dec. PMID 25283809, Free PMC Article
    5. Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4. Jolliffe CN, et al. Biochem J, 2000 Nov 1. PMID 11042109, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2.
      Title: Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2.
    2. PRGP2 may be involved in a signal transduction pathway, the impairment of which may be an unintended consequence of warfarin therapy
      Title: Proline-rich Gla protein 2 is a cell-surface vitamin K-dependent protein that binds to the transcriptional coactivator Yes-associated protein.
    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane gamma-carboxyglutamic acid protein 2
    Names
    proline rich Gla (G-carboxyglutamic acid) 2
    proline-rich Gla (G-carboxglutamic acid) polypeptide 2
    proline-rich Gla (G-carboxyglutamic acid) polypeptide 2
    proline-rich Gla protein 2
    proline-rich gamma-carboxyglutamic acid 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_000951.3 → NP_000942.1  transmembrane gamma-carboxyglutamic acid protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000942.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010619, AF009243, CB851486, CD609900
      Consensus CDS
      CCDS12773.1
      UniProtKB/Swiss-Prot
      O14669, Q6IBF8
      Related
      ENSP00000246794.4, ENST00000246794.10
      Conserved Domains (2) summary
      cd12087
      Location:109 → 138
      TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases
      smart00069
      Location:28 → 95
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    2. NM_001316335.2 → NP_001303264.1  transmembrane gamma-carboxyglutamic acid protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction near the 5' end compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC010619, CB851486, CD013954, CD609900
      Related
      ENST00000543867.2
      Conserved Domains (2) summary
      cd12087
      Location:86 → 115
      TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases
      smart00069
      Location:5 → 72
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    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
      49580617..49591004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723286.2 → XP_006723349.1  transmembrane gamma-carboxyglutamic acid protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006723349.1

      UniProtKB/Swiss-Prot
      O14669, Q6IBF8
      Conserved Domains (2) summary
      cd12087
      Location:109 → 138
      TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases
      smart00069
      Location:28 → 95
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    2. XM_011527124.2 → XP_011525426.1  transmembrane gamma-carboxyglutamic acid protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011525426.1

      Conserved Domains (2) summary
      cd12087
      Location:86 → 115
      TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases
      smart00069
      Location:5 → 72
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52580649..52591029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321475.1 → XP_054177450.1  transmembrane gamma-carboxyglutamic acid protein 2 isoform X1

    2. XM_054321476.1 → XP_054177451.1  transmembrane gamma-carboxyglutamic acid protein 2 isoform X2

      UniProtKB/TrEMBL
      Q8TAS3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14669.1 GenPept UniProtKB/Swiss-Prot:O14669

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