protein O-mannosyltransferase 2

Summary
Gene Symbol
  • POMT2
Aliases
  • Dolichyl-phosphate-mannose--protein mannosyltransferase
  • LGMD2N
Organism
Homo sapiens (human)
External Links
NCBI Gene
29954
GGDB ID
HGNC
19743
mRNA
map
  • 14q24.3
Protein
OMIM
KEGG Gene ID
hsa:29954
PubChem
29954
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital muscular dystrophy
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Metal-binding
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9UKY4
  • Dolichyl-phosphate-mannose--protein mannosyltransferase 2
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000009830

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg139
Gene Symbol
  • POMT2
Orthologous Gene
KEGG BRITE Database
Orthology
K00728
Name
dolichyl-phosphate-mannose-protein mannosyltransferase [EC:2.4.1.109]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R07620
Disease
Disease Ontology
Displaying entries 21 - 30 of 164 in total
DO ID Disease Name Source
DOID:0060857 septooptic dysplasia
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0080033 craniometaphyseal dysplasia
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0090130 cortical dysplasia-focal epilepsy syndrome
DOID:0090132 complex cortical dysplasia with other brain malformations 7
DOID:0090137 complex cortical dysplasia with other brain malformations 1
DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly
DOID:0110213 isolated cleft palate
The Human Phenotype Ontology
Displaying entries 31 - 40 of 175 in total
HPO ID HPO Term
HP:0000540 Hypermetropia
HP:0000541 Retinal detachment
HP:0000545 Myopia
HP:0000556 Retinal dystrophy
HP:0000557 Buphthalmos
HP:0000568 Microphthalmia
HP:0000580 Pigmentary retinopathy
HP:0000587 Abnormal optic nerve morphology
HP:0000589 Coloboma
HP:0000609 Optic nerve hypoplasia
Displaying all 9 entries
Disease ID Disease Name
OMIM:613150
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
ORPHA:899
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • muscular dystrophy-dystroglycanopathy, type A
ORPHA:370968
  • congenital muscular dystrophy with intellectual disability
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • muscular dystrophy-dystroglycanopathy type B5
  • muscular dystrophy-dystroglycanopathy type B6
OMIM:613156
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
OMIM:613158
  • autosomal recessive limb-girdle muscular dystrophy type 2N
OMIM:236670
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:370959
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy with cerebellar involvement
ORPHA:588
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:206559
  • autosomal recessive limb-girdle muscular dystrophy type 2N

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