Gene Gene information from NCBI Gene database.
Entrez ID 79056
Gene name Proline rich and Gla domain 4
Gene symbol PRRG4
Synonyms (NCBI Gene)
PRGP4TMG4
Chromosome 11
Chromosome location 11p13
miRNA miRNA information provided by mirtarbase database.
1526
miRTarBase ID miRNA Experiments Reference
MIRT026866 hsa-miR-192-5p Microarray 19074876
MIRT622592 hsa-miR-130b-5p HITS-CLIP 19536157
MIRT616024 hsa-miR-4778-3p HITS-CLIP 19536157
MIRT622591 hsa-miR-627-3p HITS-CLIP 19536157
MIRT622589 hsa-miR-4753-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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 23873930, 33961781, 35044719, 37219487
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
611690 30799 ENSG00000135378
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZD6
Protein name Transmembrane gamma-carboxyglutamic acid protein 4 (Proline-rich gamma-carboxyglutamic acid protein 4) (Proline-rich Gla protein 4)
Protein function May control axon guidance across the CNS (PubMed:28859078). Prevents the delivery of ROBO1 at the cell surface and down-regulates its expression (PubMed:28859078).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00594 Gla 57 97 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in kidney. {ECO:0000269|PubMed:11171957, ECO:0000269|PubMed:23873930}.
Sequence
MFTLLVLLSQLPTVTLGFPHCARGPKASKHAGEEVFTSKEEANFFIHRRLLYNRFDLELF
TPGNLERECNEELCNYEEAREIFVDEDKTIAFWQEYS
AKGPTTKSDGNREKIDVMGLLTG
LIAAGVFLVIFGLLGYYLCITKCNRLQHPCSSAVYERGRHTPSIIFRRPEEAALSPLPPS
VEDAGLPSYEQAVALTRKHSVSPPPPYPGHTKGFRVFKKSMSLPSH
Sequence length 226
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
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRRG4-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic behavior Autism BEFREE 24357251
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30362823
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 20846378 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay BEFREE 24357251
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 19096215
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 30362823
★☆☆☆☆
Found in Text Mining only
Mental Retardation Mental retardation BEFREE 19096215
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 35289213 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 35281477, 37955025 Associate
★☆☆☆☆
Found in Text Mining only
WAGR Syndrome WAGR Syndrome BEFREE 24357251, 28859078, 29059187
★☆☆☆☆
Found in Text Mining only