Pomt2 protein-O-mannosyltransferase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pomt2provided by MGI
Official Full Name: protein-O-mannosyltransferase 2provided by MGI
Primary source: MGI:MGI:2444430
See related: Ensembl:ENSMUSG00000034126 AllianceGenome:MGI:2444430
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involved in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in testis adult (RPKM 22.8), ovary adult (RPKM 9.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 D2; 12 41.3 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (87153635..87194742, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (87106861..87147968, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that POMT2 deletion in the meninges did not disrupt the development of the neocortex, and suggest that normal brain development requires protein O-mannosylation activity in neural tissue but not the meninges.
Title: Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development.
testis POMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from somatic POMT2
Title: POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
molecular cloning and characterization
Title: Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables mannosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables mannosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dentate gyrus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein O-linked glycosylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein O-linked glycosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked mannosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked mannosylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within reactive gliosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein O-mannosyl-transferase 2

Names: dolichyl-phosphate-mannose--protein mannosyltransferase 2

NP_700464.2

EC 2.4.1.109

XP_011242390.2

EC 2.4.1.109

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_153415.4 → NP_700464.2 protein O-mannosyl-transferase 2

See identical proteins and their annotated locations for NP_700464.2

Status: REVIEWED

Source sequence(s)

AK076813, BC079589

Consensus CDS

CCDS26070.1

UniProtKB/Swiss-Prot

Q8BGQ4, Q8R4Z0

Related

ENSMUSP00000035260.5, ENSMUST00000037788.6

Conserved Domains (4) summary

smart00472
Location:474 → 529

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

COG1928
Location:134 → 820

PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

pfam02366
Location:132 → 376

PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase

pfam16192
Location:608 → 818

PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

87153635..87194742 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244088.3 → XP_011242390.2 protein O-mannosyl-transferase 2 isoform X1

Conserved Domains (1) summary

COG1928
Location:134 → 837

PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]