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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
External Ids for PRRG2 Gene
- HGNC: 9470
- Entrez Gene: 5639
- Ensembl: ENSG00000126460
- OMIM: 604429
- UniProtKB: O14669
Previous GeneCards Identifiers for PRRG2 Gene
- GC19P050744
- GC19P050454
- GC19P054759
- GC19P054778
- GC19P050084
- GC19P046464
Summaries 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.
Additional gene information for PRRG2 Gene
- HGNC(9470)
- Entrez Gene(5639)
- Ensembl(ENSG00000126460)
- OMIM(604429)
- UniProtKB(O14669)
- Open Targets Platform(ENSG00000126460)
- Monarch Initiative
- Search for PRRG2 at DataMed
- Search for PRRG2 at HumanCyc
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
Genomic Locations for PRRG2 Gene
- chr19:49,580,617-49,591,008
- (GRCh38/hg38)
- Size:
- 10,392 bases
- Orientation:
- Plus strand
- chr19:50,083,903-50,094,272
- (GRCh37/hg19)
- 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:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
PRRG2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q6IBF8
Protein attributes for PRRG2 Gene
- Size:
- 202 amino acids
- Molecular mass:
- 22393 Da
- Quaternary structure:
-
- Interacts with NEDD4.
Post-translational modifications for PRRG2 Gene
- Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma-carboxylase.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for PRRG2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PRRG2
- Novus Biologicals Antibodies for PRRG2
-
Abcam antibodies for PRRG2
- Invitrogen Antibodies for PRRG2 (AFLGC-PRRG2)
- antibodies-online: Show 4 available PRRG2 Antibodies ranked by validation data
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PRRG2
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- Sino Biological Cell Lysates for PRRG2
- Sino Biological Recombinant Proteins for PRRG2
-
Abcam proteins for PRRG2
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)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 17502622 |
Phenotypes for PRRG2 Gene
- MGI mutant phenotypes for PRRG2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PRRG2:
Animal Models for PRRG2 Gene
- MGI Knock Outs for PRRG2:
-
- Prrg2 Prrg2<tm1b(EUCOMM)Wtsi>
Animal Model Products
-
Taconic Biosciences Mouse Models for PRRG2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PRRG2 - Select products 50% OFF >
- * PRRG2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for PRRG2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRRG2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRRG2
miRNA for PRRG2 Gene
- miRTarBase miRNAs that target PRRG2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRRG2
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Clone Products
- Applied Biological Materials (abm): Clones for PRRG2 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for PRRG2
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Cell Line Products
-
Horizon Cell Lines 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
- Membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 4 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 0 |
- Cytosol (2)
- Nucleoli (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IBA | 21873635 |
| GO:0005887 | integral component of plasma membrane | TAS | 9256434 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for PRRG2 Gene
Interacting Proteins for PRRG2 Gene
Selected Interacting proteins:
O14669-TMG2_HUMAN
ENSP00000246794
for PRRG2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PRRG2
No data available for Pathways by source and SIGNOR curated interactions for PRRG2 Gene
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 :
-
- ENST00000246794 1403 nts (view in UCSC)
- ENST00000543867 1583 nts (view in UCSC)
- ENST00000596700 443 nts (view in UCSC)
- ENST00000596877 435 nts (view in UCSC)
- ENST00000597121 1538 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PRRG2 - Select products 50% OFF >
- * PRRG2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PRRG2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRRG2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRRG2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRRG2
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Clone Products
- Applied Biological Materials (abm): Clones for PRRG2 - Select products 50% OFF >
- * PRRG2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PRRG2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRRG2
Relevant External Links for PRRG2 Gene
- GeneLoc Exon Structure for
- PRRG2
Expression 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.35101mRNA Expression by UniProt/SwissProt for PRRG2 Gene:
O14669-TMG2_HUMAN
Tissue specificity:
Highly expressed in the thyroid.
Primer Products
-
OriGene qPCR primer pairs for PRRG2
-
OriGene qPCR primer pairs and template standards for PRRG2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PRRG2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PRRG2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PRRG2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Prrg2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Prrg2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PRRG2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PRRG2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prrg4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | prrg2 30 31 |
|
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
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 |
| 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 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRG2 Gene
Disorders for PRRG2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome |
|
|
Search PRRG2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PRRG2
No data available for UniProtKB/Swiss-Prot and Genatlas for PRRG2 Gene
Publications for PRRG2 Gene
- 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
- 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 23
- 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
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
- Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3
ExternalLinks
Products for PRRG2 Gene
- Custom Antibody ServicesOriGene Antibodies for PRRG2
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- Abcam antibodies for PRRG2
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- Browse Primary Antibodies
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- Taconic Biosciences Mouse Models for PRRG2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PRRG2 (AFLGC-PRRG2)
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- antibodies-online: Show 4 available PRRG2 Antibodies ranked by validation data
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Sources for PRRG2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
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- (175) Open Targets Platform
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- (177) snoDB
- (178) MirGeneDB