Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9488
Gene name	Phosphatidylinositol glycan anchor biosynthesis class B
Gene symbol	PIGB
Synonyms (NCBI Gene)	DEE80EIEE80GPI-MT-IIIPIG-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

Show/Hide all (2)

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

Show/Hide all (38)

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

Show/Hide all (16)

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

MIM	HGNC	e!Ensembl
604122	8959	ENSG00000069943

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

Interactions

View interactions

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

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 80	Likely pathogenic; Pathogenic	rs1163732372, rs770161203, rs369838467, rs1595805026, rs1595791368, rs758196959, rs779296101, rs923907091, rs2056056414, rs372158001	RCV001420565 RCV005239481 RCV000850262 RCV000850263 RCV000850264 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIGB-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	Pubtator	31256876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31256876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31256876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31256876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	31256876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	31256876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31256876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PIGB (phosphatidylinositol glycan anchor biosynthesis class B)