PRR14 (proline rich 14)

Gene

• Entrez ID: 78994
• Gene name: Proline rich 14
• Gene symbol: PRR14
• Synonyms (NCBI Gene): -
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein fir

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029514	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 20562864, 27705803, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005652	Component	Nuclear lamina	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0007517	Process	Muscle organ development	IEA

Other IDs

• MIM: 617423
• HGNC: 28458
• e!Ensembl: ENSG00000156858

Protein

• UniProt ID: Q9BWN1
• Protein name: Proline-rich protein 14
• Protein function: Functions in tethering peripheral heterochromatin to the nuclear lamina during interphase, possibly through the interaction with heterochromatin protein CBX5/HP1 alpha (PubMed:24209742). Might play a role in reattaching heterochromatin to the nu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15386	Tantalus	459 → 516	Drosophila Tantalus-like	Family

• Sequence:

  MDLPGDSSPPGQPRLCRQPLTRALWGARSPKRPRLQLPGAPSPLEKASRRVLAVVLEDVM
  AVHMVPVVPSKQTSIPQHHSYHQDPVHRQPPASPPRQAGWSSQARPPDPLCLCREPLSRI
  HRTSSTLRRRSRTTPGPEEGPSQKVDRAPQPTLVVMLEDIASPRPPAEGFIDETPNFIIP
  AQRAEPMRIVRQPTPPPGDLEPPFQPSALPADPLESPPTAPDPALELPSTPPPSSLLRPR
  LSPWGLAPLFRSVRSKLESFADIFLTPNKTPQPPPPSPPMKLELKIAISEAEQSGAAEGT
  ASVSPRPPIRQWRTQDHNTPALLPKPSLGRSYSCPDLGPPGPGTCTWPPAPPQPSRPRPR
  RHTVGGGEMARAPPPPRPCLRKEVFPLGGVGASPSLTTSCSSTASTSFSEPAEPRLGSTK
  GKEPRASKDQVLSEPETKTMGKVSRFRIRRTPARPQLNLTPMGLPRPIRLNKKEFSLEEI
  YTNKNYQSPTTRRTFETIFEEPRERNGTLIFTSSRKLRRAVEFRDSSLPRSRRPSRGVRA
  AGGRTVPPNVAPSPDVGPLLQQRLEELDALLLEEETVDREQPHWT

• Sequence length: 585

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Stimulate	32541902	★☆☆☆☆ Found in Text Mining only
Constipation	Associate	33001354	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	32541902	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	32541902	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Stimulate	33001354	★☆☆☆☆ Found in Text Mining only