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-contai... See more...

Aliases for PRRG2 Gene

Aliases for PRRG2 Gene

  • Proline Rich And Gla Domain 2 2 3 5
  • PRGP2 2 3 4
  • Proline-Rich Gla (G-Carboxyglutamic Acid) Polypeptide 2 2 3
  • Transmembrane Gamma-Carboxyglutamic Acid Protein 2 3 4
  • Proline-Rich Gamma-Carboxyglutamic Acid Protein 2 3 4
  • Proline-Rich Gla Protein 2 3 4
  • Proline-Rich Gla (G-Carboxglutamic Acid) Polypeptide 2 3
  • Proline Rich Gla (G-Carboxyglutamic Acid) 2 3
  • PRRG2 5
  • TMG2 4

External Ids for PRRG2 Gene

Previous GeneCards Identifiers for PRRG2 Gene

  • GC19P050744
  • GC19P050454
  • GC19P054759
  • GC19P054778
  • GC19P050084
  • GC19P046464

Summaries for PRRG2 Gene

Entrez Gene Summary for PRRG2 Gene

  • 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]

GeneCards Summary for PRRG2 Gene

PRRG2 (Proline Rich And Gla Domain 2) is a Protein Coding gene. Diseases associated with PRRG2 include Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MASP2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRRG2 Gene

Genomics for PRRG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRRG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRRG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRRG2

Top Transcription factor binding sites by QIAGEN in the PRRG2 gene promoter:
  • c-Myb
  • c-Myc
  • Egr-2
  • Elk-1
  • FOXO1
  • FOXO1a
  • HOXA3
  • p53
  • RFX1
  • STAT5A

Genomic Locations for PRRG2 Gene

Latest Assembly
chr19:49,580,617-49,591,008
(GRCh38/hg38)
Size:
10,392 bases
Orientation:
Plus strand

Previous Assembly
chr19:50,084,573-50,094,261
(GRCh37/hg19 by Entrez Gene)
Size:
9,689 bases
Orientation:
Plus strand

chr19:50,083,903-50,094,272
(GRCh37/hg19 by Ensembl)
Size:
10,370 bases
Orientation:
Plus strand

Genomic View for PRRG2 Gene

Genes around PRRG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRRG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRRG2 Gene

Proteins for PRRG2 Gene

  • Protein details for PRRG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14669-TMG2_HUMAN
    Recommended name:
    Transmembrane gamma-carboxyglutamic acid protein 2
    Protein Accession:
    O14669
    Secondary Accessions:
    • Q6IBF8

    Protein attributes for PRRG2 Gene

    Size:
    202 amino acids
    Molecular mass:
    22393 Da
    Quaternary structure:
    • Interacts with NEDD4 (By similarity). Interacts (via cytoplasmic domain) with transcriptional coactivator YAP1 (PubMed:17502622).

neXtProt entry for PRRG2 Gene

Post-translational modifications for PRRG2 Gene

  • Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRRG2 Gene

No data available for DME Specific Peptides for PRRG2 Gene

Domains & Families for PRRG2 Gene

Gene Families for PRRG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PRRG2 Gene

InterPro:
Blocks:
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  • Coagulation factor GLA domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for PRRG2 Gene

GenScript: Design optimal peptide antigens:
  • PRRG2 protein (Q8TAS3_HUMAN)
  • Proline-rich gamma-carboxyglutamic acid protein 2 (TMG2_HUMAN)
genes like me logo Genes that share domains with PRRG2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PRRG2 Gene

Function for PRRG2 Gene

Phenotypes From GWAS Catalog for PRRG2 Gene

Gene Ontology (GO) - Molecular Function for PRRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17502622
genes like me logo Genes that share ontologies with PRRG2: view
genes like me logo Genes that share phenotypes with PRRG2: view

Animal Models for PRRG2 Gene

MGI Knock Outs for PRRG2:
  • Prrg2 Prrg2<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for PRRG2

miRNA for PRRG2 Gene

miRTarBase miRNAs that target PRRG2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRRG2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRRG2 Gene

Localization for PRRG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRG2 Gene

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRRG2 gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytoskeleton 1
nucleus 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IDA 17502622
GO:0005887 integral component of plasma membrane TAS 9256434
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PRRG2: view

Pathways & Interactions for PRRG2 Gene

PathCards logo

SuperPathways for PRRG2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRRG2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PRRG2 Gene

Drugs & Compounds for PRRG2 Gene

No Compound Related Data Available

Transcripts for PRRG2 Gene

mRNA/cDNA for PRRG2 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRRG2

Alternative Splicing Database (ASD) splice patterns (SP) for PRRG2 Gene

No ASD Table

Relevant External Links for PRRG2 Gene

GeneLoc Exon Structure for
PRRG2

Expression for PRRG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRRG2 Gene

mRNA differential expression in normal tissues according to GTEx for PRRG2 Gene

This gene is overexpressed in Pituitary (x5.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRRG2

SOURCE GeneReport for Unigene cluster for PRRG2 Gene:

Hs.35101

mRNA Expression by UniProt/SwissProt for PRRG2 Gene:

O14669-TMG2_HUMAN
Tissue specificity: Widely expressed with highest levels in kidney (PubMed:23873930). Also highly expressed in the thyroid (PubMed:9256434, PubMed:23873930).
genes like me logo Genes that share expression patterns with PRRG2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRRG2 Gene

Orthologs for PRRG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRRG2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PRRG2 30 31
  • 97.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PRRG2 30 31
  • 87.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PRRG2 30 31
  • 82.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Prrg2 30 17 31
  • 80.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Prrg2 30
  • 79.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia PRRG2 31
  • 52 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PRRG2 31
  • 44 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 38 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia prrg4 30
  • 51.59 (n)
Zebrafish
(Danio rerio)
Actinopterygii prrg2 30 31
  • 51.9 (n)
ManyToMany
Species where no ortholog for PRRG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PRRG2 Gene

ENSEMBL:
Gene Tree for PRRG2 (if available)
TreeFam:
Gene Tree for PRRG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRRG2: view image

Paralogs for PRRG2 Gene

Paralogs for PRRG2 Gene

(9) SIMAP similar genes for PRRG2 Gene using alignment to 4 proteins:

  • TMG2_HUMAN
  • M0QXL9_HUMAN
  • M0QZA1_HUMAN
  • Q8TAS3_HUMAN
genes like me logo Genes that share paralogs with PRRG2: view

Variants for PRRG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRRG2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs2288920 - p.Gly116Cys
rs35016366 - p.Pro22Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PRRG2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PRRG2 Gene

Variant ID Type Subtype PubMed ID
nsv1071938 CNV deletion 25765185
nsv1118832 CNV deletion 24896259
nsv1160655 CNV deletion 26073780
nsv469715 CNV gain+loss 16826518
nsv828578 CNV loss 20364138
nsv833863 CNV loss 17160897
nsv833864 CNV gain 17160897
nsv833865 CNV gain+loss 17160897
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for PRRG2 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.28; 76.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRRG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRRG2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRG2 Gene

Disorders for PRRG2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRRG2 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search PRRG2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PRRG2

genes like me logo Genes that share disorders with PRRG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRRG2 Gene

Publications for PRRG2 Gene

  1. Primary structure and tissue distribution of two novel proline-rich gamma-carboxyglutamic acid proteins. (PMID: 9256434) Kulman JD … Davie EW (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23
  2. Proline-rich Gla protein 2 is a cell-surface vitamin K-dependent protein that binds to the transcriptional coactivator Yes-associated protein. (PMID: 17502622) Kulman JD … Davie EW (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23
  3. Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2. (PMID: 23873930) Yazicioglu MN … High KA (The Journal of biological chemistry 2013) 3 4
  4. Identification of two novel transmembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissues. (PMID: 11171957) Kulman JD … Davie EW (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 23
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for PRRG2 Gene

Sources for PRRG2 Gene