PRR4 (proline rich 4)

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Gene Gene information from NCBI Gene database.
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Entrez ID 11272
Gene name Proline rich 4
Gene symbol PRR4
Synonyms (NCBI Gene)
LPRPPROL4
Chromosome 12
Chromosome location 12p13.2
Summary This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcriptio
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT025052 hsa-miR-181a-5p Microarray 17612493
MIRT029235 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space HDA 22664934, 23580065
GO:0005615 Component Extracellular space TAS 7544782
GO:0007601 Process Visual perception TAS 7544782
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
605359 18020 ENSG00000111215
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16378
Protein name Proline-rich protein 4 (Lacrimal proline-rich protein) (Nasopharyngeal carcinoma-associated proline-rich protein 4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15240 Pro-rich 1 → 133 Proline-rich Disordered
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in lacrimal gland where it is found in the acinar cells but not in the intralobular ducts. Also found in the submandibular gland, the parotid and sublingual glands. {ECO:0000269|PubMed:7544782}.
Sequence 
MLLVLLSVVLLALSSAQSTDNDVNYEDFTFTIPDVEDSSQRPDQGPQRPPPEGLLPRPPG
DSGNQDDGPQQRPPKPGGHHRHPPPPPFQNQQRPPRRGHRQLSLPRFPSVSLQEASSFFQ
RDRPARHPQEQPLW
Sequence length 134
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
PRR4-related disorder Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for PRR4.

No additional diseases found yet through genes similar to PRR4.