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 141 - 150 of 164 in total
DO ID Disease Name Source
DOID:1756 facial nerve disease
DOID:1826 epilepsy
DOID:2785 Dandy-Walker syndrome
DOID:2975 cystic kidney disease
DOID:4090 agnosia
DOID:423 myopathy
DOID:4621 holoprosencephaly
DOID:4626 hydranencephaly
DOID:4766 embryoma
DOID:5327 retinal detachment
The Human Phenotype Ontology
Displaying entries 11 - 20 of 175 in total
HPO ID HPO Term
HP:0000204 Cleft upper lip
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000298 Mask-like facies
HP:0000340 Sloping forehead
HP:0000347 Micrognathia
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
HP:0000411 Protruding ear
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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