GMPPB (GDP-mannose pyrophosphorylase B)

2014-11-01 Affiliation

Identity

HGNC

GMPPB

LOCATION

3p21.31

LOCUSID

29925

ALIAS

LGMDR19,MDDGA14,MDDGB14,MDDGC14

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 29925
MIM: 615320
HGNC: 22932
Ensembl: ENSG00000173540

Variants:

dbSNP: 29925
ClinVar: 29925
TCGA: ENSG00000173540
COSMIC: GMPPB

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000173540	ENST00000308375	Q9Y5P6
ENSG00000173540	ENST00000308375	A0A024R329
ENSG00000173540	ENST00000308388	Q9Y5P6
ENSG00000173540	ENST00000308388	A0A024R2X1
ENSG00000173540	ENST00000480687	Q9Y5P6
ENSG00000173540	ENST00000480687	A0A024R2X1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fructose and mannose metabolism	KEGG	ko00051
Amino sugar and nucleotide sugar metabolism	KEGG	ko00520
Fructose and mannose metabolism	KEGG	hsa00051
Amino sugar and nucleotide sugar metabolism	KEGG	hsa00520
Metabolic pathways	KEGG	hsa01100
Nucleotide sugar biosynthesis, eukaryotes	KEGG	hsa_M00361
Nucleotide sugar biosynthesis, eukaryotes	KEGG	M00361
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193
Synthesis of substrates in N-glycan biosythesis	REACTOME	R-HSA-446219
Synthesis of GDP-mannose	REACTOME	R-HSA-446205

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23768512	2013	Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.	56
26133662	2015	Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.	26
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
25681410	2015	Expanding the phenotype of GMPPB mutations.	14
26310427	2015	GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.	14
24780531	2014	Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.	12
27147698	2016	Clinical features of the myasthenic syndrome arising from mutations in GMPPB.	9
28433477	2017	Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.	7
28478914	2017	Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.	3
29437916	2018	Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.	3

Citation

Dessen P

GMPPB (GDP-mannose pyrophosphorylase B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63857/gmppb