POMT2 Antibodies

Protein O-mannosyl-transferase 2 (POMT2)

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.

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Gene Information

Human
Gene Name:	POMT2
Uniprot:	Q9UKY4
Entrez:	29954

Family

Belongs to:
glycosyltransferase 39 family

Alternative Names

DKFZp686G10254; Dolichyl-phosphate-mannose--protein mannosyltransferase 2; EC 2.4.1.109; FLJ22309; MDDGA2; MDDGB2; MDDGC2; protein O-mannosyl-transferase 2; protein-O-mannosyltransferase 2

Molecular Weight

Mass (kDA):
84.214 kDA

Genomic Context

Human
Location:	14q24.3
Sequence:	14; NC_000014.9 (77274956..77320885, complement)

Tissue Specificity

Highly expressed in testis; detected at low levels in most tissues.

Subcellular Localizations

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Diseases

• Muscular Dystrophy
• Dystrophy
• Walker-warburg Congenital Muscular Dystrophy
• Congenital Muscular Dystrophy (disorder)
• Coronary Microvascular Disease
• Muscle Eye Brain Disease
• Congenital Anomaly Of Brain
• Lissencephaly
• Eye Abnormalities
• Fukuyama Type Congenital Muscular Dystrophy
• Hypoplasia
• Weakness

• Muscular Dystrophies, Limb-girdle
• Hydrocephalus
• Nervousness
• Alpha-dystroglycanopathies
• Microcephaly
• Muscle Weakness
• Cobblestone Lissencephaly

Pathways

• Glycosylation
• Rna Interference
• Localization
• Dentate Gyrus Development
• Eye Pigmentation
• Brain Development
• Aging
• Fertilization
• Muscle Contraction
• Pigmentation
• Embryo Development
• Flight

• Eclosion
• Mrna Splicing
• Muscle Attachment
• Neuron Migration
• Locomotion
• Rna Processing
• Pathogenesis

PTMs

• Glycosylation

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/POMT2

Best Uses Of The POMT2 Marker

This article will discuss the function of the POMT2 gene, Sequence homology, and Clinical applications of the POMT2 marker. It will also provide a background on sequence homology and functional annotation. For additional information, please refer to Boster Bio's POMT2 article. It will be easier to understand what the POMT2 gene is for and its uses. It is a useful tool for those who are interested in human metabolism and cancer.

Functions

The POMT2 marker is expressed co-expressed with POMT1-Myc protein. Anti-POMT1 and anti-POMT2 antibodies detect the complex. POMT1-Myc and POMT2 co-expressed proteins were immunoprecipitated using an anti-Myc (9E10) antibody. POMT1 and POMT2 cannot associate when expressed separately. These proteins are co-expressed in the ER membrane.

There is no specific treatment for this disease; however, palliative care is important to improve the life span and functional capacity of the affected individual. Recent studies indicate that stimulation of glycosylation might be an effective therapy. Genetic identification of phenotype modifiers may lead to new diagnostic methods and alternate treatments. In addition, the POMT2 gene may play a role in a wide variety of disorders.

The mutations in POMT2 were identified in four families. One mutation disrupts the restriction site of exon 12. In the other two families, the POMT2 gene is unaltered. These mutations have not been observed in control individuals. The resulting gene sequences of three families were shown in fig. 1. The sequence of the POMT2 gene. Its functions have been described in many genetic studies.

The POMT2 gene is involved in the development of muscles in the body. People with this mutation are born with weak muscles and a disorder called Walker-Warburg syndrome. The mutations disrupt the donor site for intron splicing and the restriction site for the HpyCH4 IV enzyme. It was observed that no POMT2 mutations were detected in the controls. The mutation is responsible for a severe disease called Walker-Warburg syndrome.

Sequence homology

The POMT2 gene contains 20 exons and spans approximately 20 kb. Exon 2 contains the initiator sequence and a variable number of tandem repeats. Jurado et al. identified eight allelic variants, with the 56-repeat allele being the most common. This gene contains a microsatellite (CA)n. The POMT2 gene has a high homology with CMT1A, and is implicated in the pathogenesis of several chromosomal disorders.

The mouse Pomt1 gene spans approximately 18,416 bp of genomic DNA and is located at centimorgans 18 and 20 of chromosome 2 in the EUCIB and BSS backcross panels. It is flanked by the Pbx3 gene and the Abl gene. In both mouse strains, Pomt1 was detected at cM 18.

The POMT2 enzyme has been identified by EST database searches and cDNA libraries of cerebellum cells. It has a 7-transmembrane helical structure with five N-glycosylation sites. Its sequence has significant homology to the Drosophila 'rotated abdomen' gene (rt), which leads to defects in myogenesis and muscle structure. POMT2 is present in two isoforms: Q9Y6A1-1 and Q9Y6A2-2.

Clinical applications

The POMT2 marker has been used to identify patients with dystroglycanopathies. This gene is expressed in all tissues, including the brain, eyes, and testis. Its mutations have caused a wide range of phenotypic and clinical disorders. The genetic variation affecting this gene can cause distinct types of dystroglycanopathies. They can be classified into several types, according to their location in the body.

In this study, we tested the role of the POMT2 gene in human CMDs. We used a minigene constructed with the mutant and wild-type versions. In both cases, we found a 402-bp band compared to a 1,500-bp band. Further analysis revealed that a termination codon was present in intron 18, which likely resulted in premature termination of protein translation.

When evaluating the mutation taster, we look at the nucleotide conservation. Using the genome sequences of 46 species, we use Phastcons values to determine the degree of conservation of the gene's nucleotide sequence. The higher the Phastcons value, the more conserved the nucleotide is. This value is a good indicator of the stability of the POMT2 gene.

The POMT2 gene is expressed in all tissues of mice. Its expression levels vary from low levels in skeletal muscle to high levels in the testis. The gene is expressed in embryogenesis and the onset of organogenesis. This gene may play a role in several different processes throughout the embryogenesis. It is a candidate marker for ovarian cancer. These applications are currently under investigation. And the POMT2 gene has a long way to go before it can be fully characterized.

The POMT2 gene has recently been found in human embryos. Researchers have previously shown that it is responsible for the formation of the Reichert's membrane in mouse embryos. The gene is also expressed in the maternal decidual cells. But the exact mechanism remains unclear, but researchers hope that clinical studies will soon show that the POMT2 gene has multiple applications in cancer. If confirmed, it will allow physicians to better understand the phenotypes of the disease and guide treatment.