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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Protein O-mannosyl-transferase 2
Summary
- UniProt ID
- Q9UKY4
- Gene Symbol
-
- POMT2
- Organism
- Homo sapiens (human)
External Links
- GlyConnect
- GlyGen
- Q9UKY4
- PubChem
- Q9UKY4
- The Human Metabolome Database
- HMDBP00947
- The O-GlcNAc Database
- Q9UKY4
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
- Gene Ontology (GO)
| GO Term |
|---|
| nucleolus |
| cytosol |
| nucleoplasm |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| metal ion binding |
| mannosyltransferase activity |
| dolichyl-phosphate-mannose-protein mannosyltransferase activity |
Sequence
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGALGVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 98 | N-linked (GlcNAc...) asparagine | |||
| 324 |
|
|||
| 330 | N-linked (GlcNAc...) asparagine | |||
| 445 | N-linked (GlcNAc...) asparagine | |||
| 528 | N-linked (GlcNAc...) asparagine | |||
| 583 | N-linked (GlcNAc...) asparagine |
G80920RR
G62765YT
G64527OM
G49108TO
G83460ZZ
G72747WU
G31852PQ
G41247ZX
G02815KT
G70101JE
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 | Homo sapiens |
| Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 | Homo sapiens |
| O-linked glycosylation | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050463 | campomelic dysplasia | |
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0050559 | Fukuyama congenital muscular dystrophy | |
| DOID:0050560 | Walker-Warburg syndrome | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060255 | rippling muscle disease 2 |
