POMT2 (protein O-mannosyltransferase 2)

2014-11-01  

Identity

HGNC
POMT2
LOCATION
14q24.3
LOCUSID
29954
ALIAS
LGMD2N,LGMDR14,MDDGA2,MDDGB2,MDDGC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29954
MIM: 607439
HGNC: 19743
Ensembl: ENSG00000009830

Variants:

dbSNP: 29954
ClinVar: 29954
TCGA: ENSG00000009830
COSMIC: POMT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000009830ENST00000261534Q9UKY4
ENSG00000009830ENST00000554948G3V4X9
ENSG00000009830ENST00000555710H0YJK9
ENSG00000009830ENST00000556171H0YJJ4
ENSG00000009830ENST00000556326Q9UKY4
ENSG00000009830ENST00000556394H0YJQ7
ENSG00000009830ENST00000557289H0YJA9
ENSG00000009830ENST00000602717A0A0J9YVW4

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
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
146990492004Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.129
178782072007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.125
158945942005POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.122
192993102009Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.54
124609452002Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.32
166987972006Physical and functional association of human protein O-mannosyltransferases 1 and 2.32
168870262006Walker-Warburg syndrome.29
179231092007POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.18
176344192007New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.16
185139692008POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.10

Citation

Dessen P

POMT2 (protein O-mannosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72073/pomt2