PIGF (phosphatidylinositol glycan anchor biosynthesis class F)

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

Gene

• Entrez ID: 5281
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class F
• Gene symbol: PIGF
• Synonyms (NCBI Gene): OORS
• Chromosome: 2
• Chromosome location: 2p21
• Summary: This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the ce

miRNA Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006495	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21703189
MIRT006495	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21703189
MIRT006495	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21703189
MIRT006495	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21703189
MIRT021528	hsa-miR-145-5p	Reporter assay;Microarray	21351259
MIRT1233242	hsa-miR-3607-3p	CLIP-seq
MIRT1233243	hsa-miR-4694-3p	CLIP-seq
MIRT1233244	hsa-miR-522	CLIP-seq
MIRT2068610	hsa-miR-1913	CLIP-seq
MIRT2068611	hsa-miR-324-3p	CLIP-seq
MIRT2068612	hsa-miR-4727-5p	CLIP-seq
MIRT2068613	hsa-miR-544	CLIP-seq

Gene ontology (GO) Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004307	Function	Ethanolaminephosphotransferase activity	TAS	8463218
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IMP	33386993
GO:0006506	Process	GPI anchor biosynthetic process	ISS
GO:0006506	Process	GPI anchor biosynthetic process	TAS	8463218
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 600153
• HGNC: 8962
• e!Ensembl: ENSG00000151665

Protein

• UniProt ID: Q07326
• Protein name: GPI ethanolamine phosphate transferase, stabilizing subunit (GPI ethanolamine phosphate transferase 2, stabilizing subunit) (GPI ethanolamine phosphate transferase 3, stabilizing subunit) (GPI11 homolog) (Phosphatidylinositol-glycan biosynthesis class F p
• Protein function: Stabilizing subunit of the ethanolamine phosphate transferase 3 and ethanolamine phosphate transferase 2 complexes that sequentially transfer an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the third
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06699	PIG-F	21 → 204	GPI biosynthesis protein family Pig-F	Family

• Sequence:

  MKDNDIKRLLYTHLLCIFSIILSVFIPSLFLENFSILETHLTWLCICSGFVTAVNLVLYL
  VVKPNTSSKRSSLSHKVTGFLKCCIYFLMSCFSFHVIFVLYGAPLIELALETFLFAVILS
  TFTTVPCLCLLGPNLKAWLRVFSRNGVTSIWENSLQITTISSFVGAWLGALPIPLDWERP
  WQVWPISCTLGATFGYVAGLVISPLWIYWNRKQLTYKNN

• Sequence length: 219

Pathways

KEGG Pathway	Reactome Pathway
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis	Synthesis of glycosylphosphatidylinositol (GPI)
Metabolic pathways

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
congenital disorder of glycosylation	—	ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	no classifications from unflagged records; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (20)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Chronic Disease	Chronic disease	Pubtator	32260158	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31608707		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32802869	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31157982		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31157982		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	8760299		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31157982		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	30146616		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17964973	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17964973		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35538545	Stimulate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	27109751		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31715423, 8760299, 9588884		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25079461	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30214613		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	8575782		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30024608		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30024608	Associate	★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Pubtator	33025139	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	8081220		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PIGM 1 shared diseaseCongenital disorder of glycosylation 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) 1 shared evidence sourceClinGen (Congenital disorder of glycosylation) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) — evidence mostly ClinGen. PIGC 1 shared diseaseCongenital disorder of glycosylation 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) 1 shared evidence sourceClinGen (Congenital disorder of glycosylation) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) — evidence mostly ClinGen. PIGW 1 shared diseaseCongenital disorder of glycosylation 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) 1 shared evidence sourceClinGen (Congenital disorder of glycosylation) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) — evidence mostly ClinGen. PIGN 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI). PIGP 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI).

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PIGM	1	["Congenital disorder of glycosylation"]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	1	["ClinGen (Congenital disorder of glycosylation)"]
PIGC	1	["Congenital disorder of glycosylation"]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	1	["ClinGen (Congenital disorder of glycosylation)"]
PIGW	1	["Congenital disorder of glycosylation"]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	1	["ClinGen (Congenital disorder of glycosylation)"]
PIGN	0	[]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	0	[]
PIGP	0	[]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	0	[]

Diseases Linked via Similar Genes

Glycosylphosphatidylinositol biosynthesis defect Linked via 3 of 5 related genesPIGM, PIGC, PIGW Global developmental delay Linked via 2 of 5 related genesPIGC, PIGW Seizures Linked via 1 of 5 related genesPIGM Venous thrombosis Linked via 1 of 5 related genesPIGM Nonsyndromic intellectual disability Linked via 1 of 5 related genesPIGC

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Glycosylphosphatidylinositol biosynthesis defect	3	["PIGM","PIGC","PIGW"]
Global developmental delay	2	["PIGC","PIGW"]
Seizures	1	["PIGM"]
Venous thrombosis	1	["PIGM"]
Nonsyndromic intellectual disability	1	["PIGC"]