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

Gene ID: 5639, updated on 5-Mar-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
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Genomic context

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Location:
19q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49580617..49591004)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52580649..52591029)
105.20220307 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
  • 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 
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_2023_10

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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