PLPPR5 (phospholipid phosphatase related 5)

Gene

• Entrez ID: 163404
• Gene name: Phospholipid phosphatase related 5
• Gene symbol: PLPPR5
• Synonyms (NCBI Gene): LPPR5, PAP2, PAP2D, PRG5
• Chromosome: 1
• Chromosome location: 1p21.3
• Summary: The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacy

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006644	Process	Phospholipid metabolic process	IBA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0008195	Function	Phosphatidate phosphatase activity	IBA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IEA
GO:0046839	Process	Phospholipid dephosphorylation	IBA
GO:0051491	Process	Positive regulation of filopodium assembly	ISS

Other IDs

• MIM: 617287
• HGNC: 31703
• e!Ensembl: ENSG00000117598

Protein

• UniProt ID: Q32ZL2
• Protein name: Phospholipid phosphatase-related protein type 5 (Lipid phosphate phosphatase-related protein type 5) (Phosphatidic acid phosphatase type 2d) (Plasticity-related gene 5 protein) (PRG-5)
• Protein function: Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory-mediated axonal retraction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01569	PAP2	122 → 275	PAP2 superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in brain, lung, kidney and colon. Isoform 2 is expressed in placenta, skeletal muscle and kidney. {ECO:0000269|PubMed:16010976}.
• Sequence:

  MPLLPAALTSSMLYFQMVIMAGTVMLAYYFEYTDTFTVNVQGFFCHDSAYRKPYPGPEDS
  SAVPPVLLYSLAAGVPVLVIIVGETAVFCLQLATRDFENQEKTILTGDCCYINPLVRRTV
  RFLGIYTFGLFATDIFVNAGQVVTGNLAPHFLALCKPNYTALGCQQYTQFISGEEACTGN
  PDLIMRARKTFPSKEAALSVYAAMYLTMYITNTIKAKGTRLAKPVLCLGLMCLAFLTGLN
  RVAEYRNHWSDVIAGFLVGISIAVFLVVCVVNNFKGRQAENEHIHMDNLAQMPMISIPRV
  ESPLEKVTSVQNHITAFAEVT

• Sequence length: 321

Pathways

Reactome:

Lysosphingolipid and LPA receptors

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
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY PULMONARY HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	7542253		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12382018		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	7542253		★☆☆☆☆ Found in Text Mining only