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Protein O-mannosyl-transferase 2

Summary

UniProt ID: Q9UKY4
Gene Symbol: POMT2
Gene ID: 29954
Organism: Homo sapiens (human)

External Links

GlyConnect

Protein O-mannosyl-transferase 2

GlyGen

Q9UKY4

PubChem

Q9UKY4

The Human Metabolome Database

HMDBP00947

The O-GlcNAc Database

Q9UKY4

Re-Glyco

Q9UKY4

Annotation

Keyword: Alternative splicing Congenital muscular dystrophy Dystroglycanopathy Endoplasmic reticulum Glycoprotein Glycosyltransferase Limb-girdle muscular dystrophy Lissencephaly Metal-binding Phosphoprotein Proteomics identification Reference proteome Repeat Transmembrane helix

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	Reference
dentate gyrus development
protein O-linked glycosylation via mannose	IDA	PMID
protein O-linked glycosylation via mannose	IMP	PMID
protein O-linked glycosylation via mannose	IBA	GO_REF
basement membrane organization

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization [inference]

basement membrane organization

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

basement membrane organization

developmental process [inference]

anatomical structure development [inference]

dentate gyrus development

response to stimulus [inference]

response to stress [inference]

defense response [inference]

inflammatory response [inference]

neuroinflammatory response [inference]

reactive gliosis

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	Reference
nucleoplasm
nucleolus
endoplasmic reticulum	IBA	GO_REF
endoplasmic reticulum membrane	EXP	PMID
endoplasmic reticulum membrane	TAS	Reactome Reactome Reactome

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

membraneless organelle [inference]

intracellular membraneless organelle [inference]

nucleolus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular membraneless organelle [inference]

nucleolus

Displaying **all 5** entries
GO Term	Evidence Code	Reference
mannosyltransferase activity	IMP	PMID
mannosyltransferase activity	IEA	GO_REF
dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA	GO_REF
dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA	GO_REF
metal ion binding

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity

dolichyl-phosphate-mannose-protein mannosyltransferase activity

catalytic activity, acting on a protein [inference]

dolichyl-phosphate-mannose-protein mannosyltransferase activity

binding [inference]

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGALGVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 6** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
98	N-linked (GlcNAc...) asparagine	24190977 29741879 37074911	G80920RR G62765YT G64527OM	UniProt GlyGen GlyConnect
324		37340703	G49108TO	The O-GlcNAc Database
330	N-linked (GlcNAc...) asparagine	24190977 37074911	G83460ZZ G72747WU	UniProt GlyGen
445	N-linked (GlcNAc...) asparagine	37074911	G80920RR G62765YT G31852PQ G41247ZX G02815KT	UniProt GlyGen
528	N-linked (GlcNAc...) asparagine		G31852PQ	UniProt GlyGen
583	N-linked (GlcNAc...) asparagine	24190977 29741879 37074911	G70101JE G80920RR G62765YT G31852PQ	UniProt GlyGen GlyConnect

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 6** entries
Pathway Name	Organism
DAG1 core M1 glycosylations	Homo sapiens
DAG1 core M2 glycosylations	Homo sapiens
DAG1 core M3 glycosylations	Homo sapiens
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1	Homo sapiens
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2	Homo sapiens
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	Homo sapiens

Human Protein Atlas

ENSG00000009830

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome	Alliance of Genome Resources
DOID:0050453	lissencephaly	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Acknowledgements