PIGB - phosphatidylinositol glycan anchor biosynthesis class B Gene

Homo sapiens

Also known as DEE80; PIG-B; EIEE80; GPI-MT-III

Gene ID: 9488 | Gene type: protein coding

About PIGB

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:55,319,222-55,355,648 (from NCBI)

This gene has 12 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 8.6), prostate (RPKM 5.8) and 25 other tissues.

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 cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

PIGB Products(1)

mRNA	Protein	Name
NM_004855.5	NP_004846.4	GPI mannosyltransferase 3

PIGB Protein Structure

Glyco_transf_22

0
100
200
300
400
500
554 a.a.

Protein Preferred Names

Protein Names

GPI mannosyltransferase 3

GPI mannosyltransferase III

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 80

DEE80	Glycosylphosphatidylinositol Biosynthesis Defect 20
Gpibd20	Epileptic Encephalopathy, Early Infantile, 80
Eiee80	Developmental And Epileptic Encephalopathy, 80
Early Infantile Epileptic Encephalopathy 80

Acrofrontofacionasal Dysostosis

Acrofrontofacionasal Dysostosis Syndrome	Richieri-Costa-Colletto Syndrome
Affn Dysostosis	Affn Dysostosis 1
Acro Fronto Facio Nasal Dysostosis	Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly
Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate

Developmental And Epileptic Encephalopathy 55

DEE55	Glycosylphosphatidylinositol Biosynthesis Defect 14
Gpibd14	Epileptic Encephalopathy, Early Infantile, 55
Eiee55	Developmental And Epileptic Encephalopathy, 55
Early Infantile Epileptic Encephalopathy 55	Encephalopathy, Epileptic, Early Infantile, Type 55

Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome	Iridogoniodysgenesis, Type 2
Irid2	Iridogoniodysgenesis Type 2
ASGD4	Igds
Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant	Ihga
Irid 1	Irid 2
Iridogoniodysgenesis Type 1	Igds2
Iridogoniodysgenesis Syndrome 2	Iridogoniodysgenesis, Type 1

Dysostosis

Dysostoses

Bleeding Disorder, Platelet-Type, 9

Platelet-Type Bleeding Disorder 9	Glycoprotein Ia Deficiency
BDPLT9	Gp Ia Deficiency
Collagen Platelet Receptor Deficiency	Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency
Bleeding Disorder, Platelet Type 9

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Epiphyseal Dysplasia, Multiple, 1

EDM1	Multiple Epiphyseal Dysplasia 1
Multiple Epiphyseal Dysplasia Type 1	Med1
Multiple Epiphyseal Dysplasia Comp-Related	Polyepiphyseal Dysplasia Type 1
Multiple Epiphyseal Dysplasia, Comp-Related	Epiphyseal Dysplasia Multiple 1
Epiphyseal Dysplasia, Multiple 1	Dysplasia, Epiphyseal, Multiple, Type 1

Polyneuropathy

Polyneuropathies

Lissencephaly 8

LIS8

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10488	PIGB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PIGB	VGNC	VGNC:59124
Rattus norvegicus	PIGB	RGD	RGD:1307251
Felis catus	PIGB	VGNC	VGNC:68843
Mus musculus	PIGB	MGD	MGI:1891825
Bos taurus	PIGB	VGNC	VGNC:97300
Macaca mulatta	PIGB	VGNC	VGNC:75985