PLPP6 (phospholipid phosphatase 6)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 403313
• Gene name: Phospholipid phosphatase 6
• Gene symbol: PLPP6
• Synonyms (NCBI Gene): LPRP-B, PA-PSP, PDP1, PPAPDC2, PSDP, bA6J24.6
• Chromosome: 9
• Chromosome location: 9p24.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT450768	hsa-miR-5584-3p	PAR-CLIP	22100165
MIRT450767	hsa-miR-455-3p	PAR-CLIP	22100165
MIRT450766	hsa-miR-198	PAR-CLIP	22100165
MIRT450765	hsa-miR-526b-5p	PAR-CLIP	22100165

Gene ontology (GO) Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20110354
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0006720	Process	Isoprenoid metabolic process	IDA	20110354
GO:0008195	Function	Phosphatidate phosphatase activity	IDA	20110354
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	TAS
GO:0016829	Function	Lyase activity	IEA
GO:0018342	Process	Protein prenylation	IMP	20110354
GO:0031965	Component	Nuclear membrane	IDA	20110354
GO:0033383	Process	Geranyl diphosphate metabolic process	IDA	20110354
GO:0042392	Function	Sphingosine-1-phosphate phosphatase activity	IBA
GO:0042392	Function	Sphingosine-1-phosphate phosphatase activity	IDA	20110354
GO:0042577	Function	Lipid phosphatase activity	IDA	16464866
GO:0045087	Process	Innate immune response	IEA
GO:0045339	Process	Farnesyl diphosphate catabolic process	IDA	20110354
GO:0046839	Process	Phospholipid dephosphorylation	IBA
GO:0046839	Process	Phospholipid dephosphorylation	IDA	16464866
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	IDA	20110354
GO:0106405	Function	Isoprenoid diphosphate phosphatase activity	IDA	20110354
GO:1902247	Process	Geranylgeranyl diphosphate catabolic process	IDA	20110354
GO:1902565	Process	Positive regulation of neutrophil activation	IMP	23568778

Other IDs

• MIM: 611666
• HGNC: 23682
• e!Ensembl: ENSG00000205808

Protein

• UniProt ID: Q8IY26
• Protein name: Polyisoprenoid diphosphate/phosphate phosphohydrolase PLPP6 (EC 3.1.3.-) (EC 3.6.1.-) (EC 3.6.1.68) (Lipid phosphatase-related protein-B) (LPRP-B) (PA-PSP) (Phosphatidic acid phosphatase type 2 domain-containing protein 2) (PPAP2 domain-containing protein
• Protein function: Magnesium-independent polyisoprenoid diphosphatase that catalyzes the sequential dephosphorylation of presqualene, farnesyl, geranyl and geranylgeranyl diphosphates (PubMed:16464866, PubMed:19220020, PubMed:20110354). Functions in the innate imm
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01569	PAP2	165 → 282	PAP2 superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in most organs, in particular gastrointestinal organs, spleen, placenta, kidney, thymus and brain. {ECO:0000269|PubMed:16464866}.
• Sequence:

  MPSPRRSMEGRPLGVSASSSSSSPGSPAHGGGGGGSRFEFQSLLSSRATAVDPTCARLRA
  SESPVHRRGSFPLAAAGPSQSPAPPLPEEDRMDLNPSFLGIALRSLLAIDLWLSKKLGVC
  AGESSSWGSVRPLMKLLEISGHGIPWLLGTLYCLCRSDSWAGREVLMNLLFALLLDLLLV
  ALIKGLVRRRRPAHNQMDMFVTLSVDKYSFPSGHATRAALMSRFILNHLVLAIPLRVLVV
  LWAFVLGLSRVMLGRHNVTDVAFGFFLGYMQYSIVDYCWLSPHNAPVLFLLWSQR

• Sequence length: 295

Pathways

Reactome Pathway:

Cholesterol biosynthesis

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	Reference	Evidence Score
PLPP6-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (62)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	12551913, 30923124	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24002085	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23028062, 29914147, 35120331, 37526524	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35163779	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28378759, 37567069	Associate	★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	26014431	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	27474170	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	15798212		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	30745857	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26354166		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	24341803		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25243911	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	12551913, 16574315		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	30745857	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	15897476, 22851577	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	Lactic Acidosis	BEFREE	16770810, 24341803		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	19924563, 21454027, 24341803		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	35792828	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24962578		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34375613	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37935978	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30786811		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	37526524	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17881895	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25954108	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	12582211		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28934276		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29335542		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24962578, 29434038, 31422490		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28595656	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26014431, 35163779	Associate	★☆☆☆☆ Found in Text Mining only
NADH cytochrome B5 reductase deficiency	Nadh-Cytochrome B5 Reductase Deficiency	BEFREE	16770810, 24341803		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35656815	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24962578, 26462158, 27770912, 28862422		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	31679990		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	15897476	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36276992	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40367233	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	30206358		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30745857	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	1911885		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29335542		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	29335542		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	31679990		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	29070699	Associate	★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	BEFREE	26354166, 31314546, 9671272		★☆☆☆☆ Found in Text Mining only
Pyruvate dehydrogenase phosphatase deficiency	Pyruvate Dehydrogenase Phosphatase Deficiency	ORPHANET_DG	15855260		★☆☆☆☆ Found in Text Mining only
Pyruvate dehydrogenase phosphatase deficiency	Pyruvate Dehydrogenase Phosphatase Deficiency	GENOMICS_ENGLAND_DG	15855260, 27604308, 31392110		★☆☆☆☆ Found in Text Mining only
Pyruvate dehydrogenase phosphatase deficiency	Pyruvate Dehydrogenase Phosphatase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Pyruvate dehydrogenase phosphatase deficiency	Pyruvate Dehydrogenase Phosphatase Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pyruvate dehydrogenase phosphatase deficiency	Pyruvate Dehydrogenase Phosphatase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	19264455	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27474170	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25954108, 35163779	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30947629		★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	BEFREE	30008376		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	40304806	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	35046531	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for PLPP6.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to PLPP6.