PRR16 (proline rich 16)

Gene

• Entrez ID: 51334
• Gene name: Proline rich 16
• Gene symbol: PRR16
• Synonyms (NCBI Gene): DSC54, LARGEN
• Chromosome: 5
• Chromosome location: 5q23.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1266903	hsa-miR-369-3p	CLIP-seq
MIRT1266904	hsa-miR-374a	CLIP-seq
MIRT1266905	hsa-miR-374b	CLIP-seq
MIRT1266906	hsa-miR-4698	CLIP-seq
MIRT1266907	hsa-miR-4760-3p	CLIP-seq
MIRT1266908	hsa-miR-568	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 27812135, 29892012, 32296183
GO:0045727	Process	Positive regulation of translation	IBA
GO:0045727	Process	Positive regulation of translation	IDA	24656129
GO:0045793	Process	Positive regulation of cell size	IBA
GO:0045793	Process	Positive regulation of cell size	IDA	24656129
GO:0045793	Process	Positive regulation of cell size	IEA

Other IDs

• MIM: 615931
• HGNC: 29654
• e!Ensembl: ENSG00000184838

Protein

• UniProt ID: Q569H4
• Protein name: Protein Largen (Mesenchymal stem cell protein DSC54) (Proline-rich protein 16)
• Protein function: Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mit
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15252	DUF4589	53 → 304	Domain of unknown function (DUF4589)	Family

• Sequence:

  MSAKSKGNPSSSCPAEGPPAASKTKVKEQIKIIVEDLELVLGDLKDVAKELKEVVDQIDT
  LTSDLQLEDEMTDSSKTDTLNSSSSGTTASSLEKIKVQANAPLIKPPAHPSAILTVLRKP
  NPPPPPPRLTPVKCEDPKRVVPTANPVKTNGTLLRNGGLPGGPNKIPNGDICCIPNSNLD
  KAPVQLLMHRPEKDRCPQAGPRERVRFNEKVQYHGYCPDCDTRYNIKNREVHLHSEPVHP
  PGKIPHQGPPLPPTPHLPPFPLENGGMGISHSNSFPPIRPATVPPPTAPKPQKTILRKST
  TTTV

• Sequence length: 304

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32311840	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24243566, 36182916	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36182916	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only