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Aliases for POMT2 Gene

Aliases for POMT2 Gene

  • Protein-O-Mannosyltransferase 2 2 3
  • Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 2 3 4
  • MDDGA2 3 6
  • MDDGB2 3 6
  • MDDGC2 3 6
  • Protein O-Mannosyl-Transferase 2 3
  • EC 2.4.1.109 4
  • LGMD2N 3

External Ids for POMT2 Gene

Summaries for POMT2 Gene

Entrez Gene Summary for POMT2 Gene

  • The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]

GeneCards Summary for POMT2 Gene

POMT2 (Protein-O-Mannosyltransferase 2) is a Protein Coding gene. Diseases associated with POMT2 include muscular dystrophy-dystroglycanopathy , type a, 2 and muscular dystrophy-dystroglycanopathy , type b, 2. Among its related pathways are Other types of O-glycan biosynthesis. GO annotations related to this gene include dolichyl-phosphate-mannose-protein mannosyltransferase activity. An important paralog of this gene is POMT1.

UniProtKB/Swiss-Prot for POMT2 Gene

  • 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.

Gene Wiki entry for POMT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMT2 Gene

Genomics for POMT2 Gene

Genomic Location for POMT2 Gene

Start:
77,274,956 bp from pter
End:
77,320,884 bp from pter
Size:
45,929 bases
Orientation:
Minus strand

Genomic View for POMT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POMT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMT2 Gene

Regulatory Elements for POMT2 Gene

Proteins for POMT2 Gene

  • Protein details for POMT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKY4-POMT2_HUMAN
    Recommended name:
    Protein O-mannosyl-transferase 2
    Protein Accession:
    Q9UKY4
    Secondary Accessions:
    • Q9NSG6
    • Q9P1W0
    • Q9P1W2

    Protein attributes for POMT2 Gene

    Size:
    750 amino acids
    Molecular mass:
    84214 Da
    Quaternary structure:
    • Interacts with POMT1.
    SequenceCaution:
    • Sequence=CAD62348.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for POMT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POMT2 Gene

Proteomics data for POMT2 Gene at MOPED

Post-translational modifications for POMT2 Gene

Other Protein References for POMT2 Gene

No data available for DME Specific Peptides for POMT2 Gene

Domains for POMT2 Gene

Gene Families for POMT2 Gene

HGNC:
  • DOLPM :Dolichyl D-mannosyl phosphate dependent mannosyltransferases

Protein Domains for POMT2 Gene

Suggested Antigen Peptide Sequences for POMT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKY4

UniProtKB/Swiss-Prot:

POMT2_HUMAN
Domain:
  • Contains 3 MIR domains.:
    • Q9UKY4
Family:
  • Belongs to the glycosyltransferase 39 family.:
    • Q9UKY4
genes like me logo Genes that share domains with POMT2: view

Function for POMT2 Gene

Molecular function for POMT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Dolichyl D-mannosyl phosphate + protein = dolichyl phosphate + O-D-mannosylprotein.
UniProtKB/Swiss-Prot EnzymeRegulation: Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on activity in vitro.
UniProtKB/Swiss-Prot Function: 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.

Enzyme Numbers (IUBMB) for POMT2 Gene

Gene Ontology (GO) - Molecular Function for POMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity --
GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POMT2: view
genes like me logo Genes that share phenotypes with POMT2: view

Animal Models for POMT2 Gene

MGI Knock Outs for POMT2:

miRNA for POMT2 Gene

miRTarBase miRNAs that target POMT2

No data available for Transcription Factor Targeting and HOMER Transcription for POMT2 Gene

Localization for POMT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMT2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POMT2 Gene COMPARTMENTS Subcellular localization image for POMT2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for POMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with POMT2: view

Pathways for POMT2 Gene

genes like me logo Genes that share pathways with POMT2: view

Pathways by source for POMT2 Gene

1 KEGG pathway for POMT2 Gene

UniProtKB/Swiss-Prot Q9UKY4-POMT2_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for POMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation --
GO:0035269 protein O-linked mannosylation IEA --
GO:0097502 mannosylation --
genes like me logo Genes that share ontologies with POMT2: view

Compounds for POMT2 Gene

(5) HMDB Compounds for POMT2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Dolichol phosphate
  • dolichol-phosphate
34457-14-2
Dolichyl phosphate D-mannose
  • Dolichyl D-mannosyl phosphate
908211-94-9
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5
genes like me logo Genes that share compounds with POMT2: view

Transcripts for POMT2 Gene

Unigene Clusters for POMT2 Gene

Protein-O-mannosyltransferase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POMT2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24a · 24b · 24c · 24d
SP1: - - - - - -
SP2: -
SP3: - - - - - -
SP4: - - -
SP5:
SP6: - - - - -
SP7:
SP8:
SP9: - - -
SP10:
SP11:

Relevant External Links for POMT2 Gene

GeneLoc Exon Structure for
POMT2
ECgene alternative splicing isoforms for
POMT2

Expression for POMT2 Gene

mRNA expression in normal human tissues for POMT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POMT2 Gene

SOURCE GeneReport for Unigene cluster for POMT2 Gene Hs.132989

mRNA Expression by UniProt/SwissProt for POMT2 Gene

Q9UKY4-POMT2_HUMAN
Tissue specificity: Highly expressed in testis; detected at low levels in most tissues
genes like me logo Genes that share expressions with POMT2: view

No data available for mRNA differential expression in normal tissues for POMT2 Gene

Orthologs for POMT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POMT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POMT2 35
  • 99.56 (n)
  • 99.87 (a)
POMT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POMT2 35
  • 89.91 (n)
  • 91.2 (a)
POMT2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POMT2 35
  • 90.62 (n)
  • 90.93 (a)
POMT2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pomt2 35
  • 88.62 (n)
  • 90.8 (a)
Pomt2 16
Pomt2 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POMT2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POMT2 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomt2 35
  • 88.53 (n)
  • 89.73 (a)
chicken
(Gallus gallus)
Aves POMT2 35
  • 74.34 (n)
  • 78.63 (a)
POMT2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMT2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomt2 35
  • 65.09 (n)
  • 67.55 (a)
zebrafish
(Danio rerio)
Actinopterygii pomt2 35
  • 66.13 (n)
  • 70.74 (a)
pomt2 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002674 35
  • 56.76 (n)
  • 51.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta tw 35
  • 58.27 (n)
  • 55.19 (a)
tw 36
  • 50 (a)
OneToOne
EG:34F3.7 37
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR290W 35
  • 45.35 (n)
  • 36.75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMT2 35
  • 46.55 (n)
  • 38.12 (a)
PMT2 36
  • 33 (a)
ManyToMany
PMT3 36
  • 33 (a)
ManyToMany
PMT3 38
PMT6 36
  • 32 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15829g 35
  • 46.24 (n)
  • 37.67 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01648 35
  • 50.94 (n)
  • 41.22 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ogm2 35
  • 45.59 (n)
  • 37.8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for POMT2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POMT2 Gene

ENSEMBL:
Gene Tree for POMT2 (if available)
TreeFam:
Gene Tree for POMT2 (if available)

Paralogs for POMT2 Gene

Paralogs for POMT2 Gene

Selected SIMAP similar genes for POMT2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with POMT2: view

Variants for POMT2 Gene

Sequence variations from dbSNP and Humsavar for POMT2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs438931 -- 77,279,967(+) CAGCC(A/G)CTCTC intron-variant
rs755072 -- 77,305,402(-) TTATT(C/T)TGATG intron-variant
rs972725 -- 77,281,968(+) CCTCT(A/G)CATGG intron-variant
rs1055592 -- 77,277,301(-) CCATC(C/T)GGCCA utr-variant-3-prime
rs1861888 -- 77,297,423(+) TTACC(A/G)TTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POMT2 Gene

Variant ID Type Subtype PubMed ID
nsv1361 CNV Loss 18451855
nsv902104 CNV Loss 21882294
esv2748902 CNV Deletion 23290073
dgv1961n71 CNV Loss 21882294

Relevant External Links for POMT2 Gene

HapMap Linkage Disequilibrium report
POMT2
Human Gene Mutation Database (HGMD)
POMT2
Locus Specific Mutation Databases (LSDB)
POMT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMT2 Gene

Disorders for POMT2 Gene

(3) OMIM Diseases for POMT2 Gene (607439)

UniProtKB/Swiss-Prot

POMT2_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:15894594, ECO:0000269 PubMed:16701995, ECO:0000269 PubMed:17878207, ECO:0000269 PubMed:19138766, ECO:0000269 PubMed:22958903}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. {ECO:0000269 PubMed:17634419, ECO:0000269 PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]: An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal. {ECO:0000269 PubMed:17878207, ECO:0000269 PubMed:17923109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for POMT2 Gene

(2) Novoseek inferred disease relationships for POMT2 Gene

Disease -log(P) Hits PubMed IDs
walker-warburg syndrome 97.3 5
muscular dystrophies 89.6 3

Relevant External Links for POMT2

Genetic Association Database (GAD)
POMT2
Human Genome Epidemiology (HuGE) Navigator
POMT2
genes like me logo Genes that share disorders with POMT2: view

Publications for POMT2 Gene

  1. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PMID: 17878207) Godfrey C. … Muntoni F. (Brain 2007) 3 4 23 48
  2. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 4 23 48
  3. Characterization of POMT2, a novel member of the PMT protein O- mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. (PMID: 12460945) Willer T. … Strahl S. (Glycobiology 2002) 2 3 4
  4. Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family. (PMID: 11162531) Fukuda S. … Kamiya K. (Biochem. Biophys. Res. Commun. 2001) 2 3 23
  5. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (PMID: 15894594) van Reeuwijk J. … van Bokhoven H. (J. Med. Genet. 2005) 3 4 23

Products for POMT2 Gene

Sources for POMT2 Gene

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