GMPPB (GDP-mannose pyrophosphorylase B)

2014-11-01  

Identity

HGNC
GMPPB
LOCATION
3p21.31
LOCUSID
29925
ALIAS
LGMDR19,MDDGA14,MDDGB14,MDDGC14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173540ENST00000308375Q9Y5P6
ENSG00000173540ENST00000308375A0A024R329
ENSG00000173540ENST00000308388Q9Y5P6
ENSG00000173540ENST00000308388A0A024R2X1
ENSG00000173540ENST00000480687Q9Y5P6
ENSG00000173540ENST00000480687A0A024R2X1

Expression (GTEx)

0
10
20
30
40
50
60
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

PathwaySourceExternal ID
Fructose and mannose metabolismKEGGko00051
Amino sugar and nucleotide sugar metabolismKEGGko00520
Fructose and mannose metabolismKEGGhsa00051
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Nucleotide sugar biosynthesis, eukaryotesKEGGhsa_M00361
Nucleotide sugar biosynthesis, eukaryotesKEGGM00361
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of GDP-mannoseREACTOMER-HSA-446205

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378341542023Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways.0
378341542023Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways.0
346333292022Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.3
346333292022Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.3
343337242021A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.5
343337242021A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.5
306849532020Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.3
306849532020Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.3
294379162018Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.5
294379162018Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.5
284334772017Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.17
284789142017Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.6
284334772017Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.17
284789142017Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.6
271476982016Clinical features of the myasthenic syndrome arising from mutations in GMPPB.19

Citation

Dessen P

GMPPB (GDP-mannose pyrophosphorylase B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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