Gene Gene information from NCBI Gene database.
Entrez ID 5639
Gene name Proline rich and Gla domain 2
Gene symbol PRRG2
Synonyms (NCBI Gene)
PRGP2
Chromosome 19
Chromosome location 19q13.33
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
miRNA miRNA information provided by mirtarbase database.
29
miRTarBase ID miRNA Experiments Reference
MIRT017531 hsa-miR-335-5p Microarray 18185580
MIRT1267915 hsa-miR-2909 CLIP-seq
MIRT1267916 hsa-miR-4267 CLIP-seq
MIRT1267917 hsa-miR-4278 CLIP-seq
MIRT1267918 hsa-miR-508-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 17502622, 23873930, 25283809
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604429 9470 ENSG00000126460
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14669
Protein name Transmembrane gamma-carboxyglutamic acid protein 2 (Proline-rich gamma-carboxyglutamic acid protein 2) (Proline-rich Gla protein 2)
PDB 9BVP , 9BVQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00594 Gla 55 95 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in kidney (PubMed:23873930). Also highly expressed in the thyroid (PubMed:23873930, PubMed:9256434). {ECO:0000269|PubMed:23873930, ECO:0000269|PubMed:9256434}.
Sequence
MRGHPSLLLLYMALTTCLDTSPSEETDQEVFLGPPEAQSFLSSHTRIPRANHWDLELLTP
GNLERECLEERCSWEEAREYFEDNTLTERFWESYI
YNGKGGRGRVDVASLAVGLTGGILL
IVLAGLGAFWYLRWRQHRGQQPCPQEAGLISPLSPLNPLGPPTPLPPPPPPPPGLPTYEQ
ALAASGVHDAPPPPYTSLRRPH
Sequence length 202
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations