PIGB (phosphatidylinositol glycan anchor biosynthesis class B)

Gene

• Entrez ID: 9488
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class B
• Gene symbol: PIGB
• Synonyms (NCBI Gene): DEE80, EIEE80, GPI-MT-III, PIG-B
• Chromosome: 15
• Chromosome location: 15q21.3
• Summary: This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1566960044	A>G	Uncertain-significance, pathogenic	Downstream transcript variant, missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1595805026	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019704	hsa-miR-375	Microarray	20215506
MIRT021352	hsa-miR-9-5p	Microarray	17612493
MIRT045396	hsa-miR-149-5p	CLASH	23622248
MIRT1233174	hsa-miR-103a	CLIP-seq
MIRT1233175	hsa-miR-107	CLIP-seq
MIRT1233176	hsa-miR-1256	CLIP-seq
MIRT1233177	hsa-miR-15a	CLIP-seq
MIRT1233178	hsa-miR-15b	CLIP-seq
MIRT1233179	hsa-miR-16	CLIP-seq
MIRT1233180	hsa-miR-1912	CLIP-seq
MIRT1233181	hsa-miR-195	CLIP-seq
MIRT1233182	hsa-miR-199a-5p	CLIP-seq
MIRT1233183	hsa-miR-199b-5p	CLIP-seq
MIRT1233184	hsa-miR-299-3p	CLIP-seq
MIRT1233185	hsa-miR-3126-3p	CLIP-seq
MIRT1233186	hsa-miR-3128	CLIP-seq
MIRT1233187	hsa-miR-3130-5p	CLIP-seq
MIRT1233188	hsa-miR-3143	CLIP-seq
MIRT1233189	hsa-miR-380	CLIP-seq
MIRT1233190	hsa-miR-424	CLIP-seq
MIRT1233191	hsa-miR-4263	CLIP-seq
MIRT1233192	hsa-miR-4422	CLIP-seq
MIRT1233193	hsa-miR-4427	CLIP-seq
MIRT1233194	hsa-miR-4482	CLIP-seq
MIRT1233195	hsa-miR-4491	CLIP-seq
MIRT1233196	hsa-miR-4503	CLIP-seq
MIRT1233197	hsa-miR-4536	CLIP-seq
MIRT1233198	hsa-miR-4657	CLIP-seq
MIRT1233199	hsa-miR-4680-3p	CLIP-seq
MIRT1233200	hsa-miR-4720-5p	CLIP-seq
MIRT1233201	hsa-miR-4775	CLIP-seq
MIRT1233202	hsa-miR-4799-3p	CLIP-seq
MIRT1233203	hsa-miR-485-3p	CLIP-seq
MIRT1233204	hsa-miR-497	CLIP-seq
MIRT1233205	hsa-miR-576-5p	CLIP-seq
MIRT1233206	hsa-miR-590-3p	CLIP-seq
MIRT1233197	hsa-miR-4536	CLIP-seq
MIRT2295732	hsa-miR-4789-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000026	Function	Alpha-1,2-mannosyltransferase activity	IBA
GO:0000026	Function	Alpha-1,2-mannosyltransferase activity	IDA	8861954
GO:0004376	Function	GPI mannosyltransferase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	8861954
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IDA	8861954
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8861954
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

Other IDs

• MIM: 604122
• HGNC: 8959
• e!Ensembl: ENSG00000069943

Protein

• UniProt ID: Q92521
• Protein name: GPI alpha-1,2-mannosyltransferase 3 (EC 2.4.1.-) (GPI mannosyltransferase III) (GPI-MT-III) (Phosphatidylinositol-glycan biosynthesis class B protein) (PIG-B)
• Protein function: Alpha-1,2-mannosyltransferase that catalyzes the transfer of the third mannose, via an alpha-1,2 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to an alpha-D-Man-(1->6)-2-PEtn-alpha-D-Man-(1->4)-alpha-D-GlcN-(1->6)-(1-radyl,2-acyl-sn-glycer
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03901	Glyco_transf_22	62 → 449	Alg9-like mannosyltransferase family	Family

• Sequence:

  MRRPLSKCGMEPGGGDASLTLHGLQNRSHGKIKLRKRKSTLYFNTQEKSARRRGDLLGEN
  IYLLLFTIALRILNCFLVQTSFVPDEYWQSLEVSHHMVFNYGYLTWEWTERLRSYTYPLI
  FASIYKILHLLGKDSVQLLIWIPRLAQALLSAVADVRLYSLMKQLENQEVARWVFFCQLC
  SWFTWYCCTRTLTNTMETVLTIIALFYYPLEGSKSMNSVKYSSLVALAFIIRPTAVILWT
  PLLFRHFCQEPRKLDLILHHFLPVGFVTLSLSLMIDRIFFGQWTLVQFNFLKFNVLQNWG
  TFYGSHPWHWYFSQGFPVILGTHLPFFIHGCYLAPKRYRILLVTVLWTLLVYSMLSHKEF
  RFIYPVLPFCMVFCGYSLTHLKTWKKPALSFLFLSNLFLALYTGLVHQRGTLDVMSHIQK
  VCYNNPNKSSASIFIMMPCHSTPYYSHVHCPLPMRFLQCPPDLTGKSHYLDEADVFYLNP
  LNWLHREFHDDASLPTHLITFSILEEEISAFLISSNYKRTAVFFHTHLPEGRIGSHIYVY
  ERKLKGKFNMKMKF

• Sequence length: 554

Pathways

KEGG:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways

Reactome:

Synthesis of glycosylphosphatidylinositol (GPI)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Developmental and epileptic encephalopathy, 80	Likely pathogenic; Pathogenic	rs1163732372, rs770161203, rs369838467, rs1595805026, rs1595791368, rs758196959, rs779296101, rs923907091, rs2056056414, rs372158001	RCV001420565 RCV005239481 RCV000850262 RCV000850263 RCV000850264 RCV000850265 RCV000850267 RCV001254097 RCV001254098 RCV001290130

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Benign	rs191860992	RCV005927881
Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance	rs1566960044	RCV000680066
PIGB-related disorder	Benign; Likely benign	rs678892, rs151252589, rs73415566, rs2290344, rs652397, rs8043415, rs17851556, rs2444042	RCV003980660 RCV003916305 RCV003958663 RCV003984188 RCV003951109 RCV003968840 RCV003936432 RCV003928428
See cases	Uncertain significance	rs1283454985	RCV003232923

Associations from Text Mining
Disease Name	Relationship Type	References
Alcoholic Neuropathy	Associate	31256876
Autistic Disorder	Associate	31256876
Intellectual Disability	Associate	31256876
Metabolic Diseases	Associate	31256876
Peripheral Nervous System Diseases	Associate	31256876
Seizures	Associate	31256876
Syndrome	Associate	31256876