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POMT2 Gene

protein-coding   GIFtS: 63
GCID: GC14M077741

Protein-O-Mannosyltransferase 2

  See POMT2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein-O-Mannosyltransferase 21 2     MDDGC22 5
Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 22 3     LGMD2N2
MDDGA22 5     Protein O-Mannosyl-Transferase 22
MDDGB22 5     EC 2.4.1.1093

External Ids:    HGNC: 197431   Entrez Gene: 299542   Ensembl: ENSG000000098307   OMIM: 6074395   UniProtKB: Q9UKY43   

Export aliases for POMT2 gene to outside databases

Previous GC identifers: GC14M075249 GC14M071558 GC14M075731 GC14M076811 GC14M057907


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 b, 2, and muscular dystrophy-dystroglycanopathy , type c, 2. GO annotations related to this gene include dolichyl-phosphate-mannose-protein mannosyltransferase activity. An important paralog of this gene is POMT1.

UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4
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

Gene Wiki entry for POMT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the POMT2 gene promoter:
         HNF-3beta   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOMT2 promoter sequence
   Search Chromatin IP Primers for POMT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POMT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24

POMT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POMT2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M077741:  view genomic region     (about GC identifiers)

Start:
77,741,299 bp from pter      End:
77,787,227 bp from pter
Size:
45,929 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4 (See protein sequence)
Recommended Name: Protein O-mannosyl-transferase 2  
Size: 750 amino acids; 84214 Da
Subunit: Interacts with POMT1 (Probable)
Sequence caution: Sequence=CAD62348.1; Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: Q9NSG6 Q9P1W0 Q9P1W2
Alternative splicing: 2 isoforms:  Q9UKY4-1   Q9UKY4-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POMT2: NX_Q9UKY4

Explore proteomics data for POMT2 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn98, Asn330, Asn445, Asn528, Asn583
  • Modification sites at PhosphoSitePlus

  • See POMT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_037514.2  
    ENSEMBL proteins: 
     ENSP00000261534   ENSP00000451967   ENSP00000451730   ENSP00000451651   ENSP00000451115  
     ENSP00000450630   ENSP00000452060  

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    Cloud-Clone Corp. Proteins for POMT2

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases

    3 InterPro protein domains:
     IPR003342 Glyco_trans_39
     IPR027005 GlyclTrfase_39_like
     IPR016093 MIR_motif

    Graphical View of Domain Structure for InterPro Entry Q9UKY4

    ProtoNet protein and cluster: Q9UKY4

    2 Blocks protein domains:
    IPB003342 Glycosyl transferase
    IPB003608 MIR domain


    UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4
    Similarity: Belongs to the glycosyltransferase 39 family
    Similarity: Contains 3 MIR domains


    Find genes that share domains with POMT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: POMT2_HUMAN, Q9UKY4
    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
    Catalytic activity: Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein
    Enzyme regulation: Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on
    activity in vitro

         Enzyme Number (IUBMB): EC 2.4.1.1091

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000030mannosyltransferase activity ----
    GO:0004169dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with POMT2           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pomt2):
     cellular  embryogenesis  growth/size/body  mortality/aging  nervous system 
     other 

    Find genes that share phenotypes with POMT2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pomt2tm1.2Hhu for POMT2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POMT2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POMT2

    miRNA
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    miRTarBase miRNAs that target POMT2:
    hsa-mir-146b-5p (MIRT041610)

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    Selected qRT-PCR Assays for microRNAs that regulate POMT2 (see all 20):
    hsa-miR-132* hsa-miR-642a hsa-miR-3605-3p hsa-miR-214* hsa-miR-637 hsa-miR-3143 hsa-miR-3140-3p hsa-miR-4271
    SwitchGear 3'UTR luciferase reporter plasmidPOMT2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    POMT2_HUMAN, Q9UKY4: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with POMT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for POMT2 About    
    See pathways by source

    SuperPathContained pathways About
    1Other types of O-glycan biosynthesis
    Other types of O-glycan biosynthesis


    Find genes that share SuperPaths with POMT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for POMT2):
        Other types of O-glycan biosynthesis

    UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Array including POMT2: 

              Glycosylation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POMT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for POMT2 (Q9UKY43 ENSP000002615344) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006493protein O-linked glycosylation ----

    Find genes that share ontologies with POMT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for POMT2

    5 HMDB Compounds for POMT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Dolichol phosphatedolichol-phosphate (see all 6)34457-14-2--
    Dolichyl phosphate D-mannoseDolichyl D-mannosyl phosphate (see all 4)908211-94-9--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for POMT2 gene: 
    NM_013382.5  

    Unigene Cluster for POMT2:

    Protein-O-mannosyltransferase 2
    Hs.132989  [show with all ESTs]
    Unigene Representative Sequence: AK023804
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000261534(uc001xti.2 uc010asr.2) ENST00000554767(uc001xth.1)
    ENST00000452340 ENST00000602717 ENST00000556394 ENST00000555710 ENST00000556446
    ENST00000556171 ENST00000555134 ENST00000554564 ENST00000554884 ENST00000553880
    ENST00000557675 ENST00000556404 ENST00000556851 ENST00000557289 ENST00000553863
    ENST00000556326
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate POMT2 (see all 20):
    hsa-miR-132* hsa-miR-642a hsa-miR-3605-3p hsa-miR-214* hsa-miR-637 hsa-miR-3143 hsa-miR-3140-3p hsa-miR-4271
    SwitchGear 3'UTR luciferase reporter plasmidPOMT2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat POMT2
      QuantiFast Probe-based Assays in human, mouse, rat POMT2

    Additional mRNA sequence: 

    AF105020.1 AK023804.1 AK025962.1 AL049462.1 AL353956.1 AY090480.1 BC031651.1 BX248027.1 
    CR627447.1 

    13 DOTS entries:

    DT.91742829  DT.100810695  DT.111079  DT.100026431  DT.95374341  DT.100784655  DT.100713155  DT.91733170 
    DT.95374337  DT.100784654  DT.120774055  DT.40230300  DT.95255215 

    Selected AceView cDNA sequences (see all 177):

    NM_013382 AI246447 BQ005294 BX248027 AI968622 R79071 BU742093 CD171643 
    Z40419 BU159613 AI628073 BU627752 BX112821 AI682784 AL704632 AI337014 
    BU682506 BM985418 BQ772761 BU736492 AW160370 AI290746 AW206197 BU846069 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POMT2 (see all 11)    About this scheme

    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:                    -     -           -                                                                                                                     

    ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24a · 24b · 24c · 24d
    SP1:              -     -     -     -     -                       -                           
    SP2:                                                              -                           
    SP3:              -     -     -     -     -                       -                           
    SP4:                    -           -     -                                                   
    SP5:                                                                                          


    ECgene alternative splicing isoforms for POMT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POMT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    POMT2 Expression
    About this image


    POMT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    POMT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POMT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132989

    UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4
    Tissue specificity: Highly expressed in testis; detected at low levels in most tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including POMT2: 
              Glycosylation in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for POMT2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pomt21 , 5 protein-O-mannosyltransferase 21, 5 88.62(n)1
    90.8(a)1
      12 (41.30 cM)5
    2177341  NM_153415.31  NP_700464.21 
     871068665 
    chicken
    (Gallus gallus)
    Aves POMT21 protein-O-mannosyltransferase 2 74.34(n)
    78.63(a)
      423373  XM_004941822.1  XP_004941879.1 
    lizard
    (Anolis carolinensis)
    Reptilia POMT26
    protein-O-mannosyltransferase 2
    79(a)
    1 ↔ 1
    1(20784433-20818051)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pomt21 protein-O-mannosyltransferase 2 65.09(n)
    67.55(a)
      100490100  XM_004917055.1  XP_004917112.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pomt21 protein-O-mannosyltransferase 2 66.13(n)
    70.74(a)
      563878  NM_001045033.1  NP_001038498.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:34F3.73
    tw1
    dolichyl-phosphate-mannose-protein
    mannosyltransferase3
    Protein O-mannosyltransferase 21
    49(a)3
    58.27(n)1
    55.19(a)1
      1C43
    310241  NM_130502.31  NP_569858.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMT3(YOR321W)4
    PMT21
    Protein O-mannosyltransferase, transfers mannose residues more4
    PMT21
    46.55(n)1
    38.12(a)1
      15(916030-918291)4
    8512101  NP_009379.21  8544994 
     NP_014966.14 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POMT2 gene
    POMT12  
    2 SIMAP similar genes for POMT2 using alignment to 6 protein entries:     POMT2_HUMAN (see all proteins):
    DKFZp686G10254    POMT1

    Find genes that share paralogs with POMT2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POMT2 (see all 1144)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1902858311,2,,4
    CMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)4 pathogenic158741774(+) CTAGTC/GGAATA 2 P R mis10--------
    VAR_0650394
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)4--see VAR_0650392 G D mis40--------
    VAR_0650474
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)4--see VAR_0650472 G E mis40--------
    VAR_0650404
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)4--see VAR_0650402 G S mis40--------
    VAR_0650444
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)4--see VAR_0650442 G V mis40--------
    VAR_0650464
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)4--see VAR_0650462 F S mis40--------
    VAR_0650454
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)4--see VAR_0650452 Y C mis40--------
    VAR_0650494
    Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)4--see VAR_0650492 W S mis40--------
    VAR_0650384
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)4--see VAR_0650382 I N mis40--------
    VAR_0650374
    Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)4--see VAR_0650372 T M mis40--------

    HapMap Linkage Disequilibrium report for POMT2 (77741299 - 77787227 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for POMT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748902CNV Deletion23290073
    dgv1961n71CNV Loss21882294
    nsv1361CNV Loss18451855
    nsv902104CNV Loss21882294

    Human Gene Mutation Database (HGMD): POMT2
    Locus Specific Mutation Databases (LSDB): POMT2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POMT2
    DNA2.0 Custom Variant and Variant Library Synthesis for POMT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607439   
    OMIM disorders: 613150  613156  613158  
    UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 11 diseases for POMT2:    
    About MalaCards
    muscular dystrophy-dystroglycanopathy , type b, 2    muscular dystrophy-dystroglycanopathy , type c, 2    pomt2-related muscle diseases    muscular dystrophy-dystroglycanopathy , type a, 2
    walker-warburg syndrome    muscular dystrophy-dystroglycanopathy    best vitelliform macular dystrophy    muscular dystrophy-dystroglycanopathy , type b, 14
    muscular dystrophy-dystroglycanopathy , type a, 14    muscular dystrophy-dystroglycanopathy , type a, 7    vitelliform macular dystrophy

    2 diseases from the University of Copenhagen DISEASES database for POMT2:
    Muscular dystrophy     Lissencephaly

    Find genes that share disorders with POMT2           About GenesLikeMe

    2 Novoseek inferred disease relationships for POMT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    walker-warburg syndrome 97.3 5 18513969 (1), 18939472 (1), 15894594 (1), 18490429 (1) (see all 5)
    muscular dystrophies 89.6 3 18513969 (1), 19067344 (1), 18490429 (1)

    Genetic Association Database (GAD): POMT2
    Human Genome Epidemiology (HuGE) Navigator: POMT2 (4 documents)

    Export disorders for POMT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POMT2 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with POMT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PubMed id 17878207)1, 2, 4, 9 Godfrey C.... Muntoni F. (Brain 2007)
    2. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E.... Bertini E. (Neurology 2009)
    3. Characterization of POMT2, a novel member of the PMT protein O- mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. (PubMed id 12460945)1, 2, 3 Willer T.... Strahl S. (Glycobiology 2002)
    4. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. (PubMed id 18513969)1, 4, 9 Messina S....Mercuri E. (Neuromuscul. Disord. 2008)
    5. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (PubMed id 15894594)1, 2, 9 van Reeuwijk J.... van Bokhoven H. (J. Med. Genet. 2005)
    6. Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family. (PubMed id 11162531)1, 3, 9 Fukuda S.... Kamiya K. (Biochem. Biophys. Res. Commun. 2001)
    7. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. (PubMed id 19138766)1, 2 Yanagisawa A.... Guicheney P. (Eur. J. Med. Genet. 2009)
    8. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. (PubMed id 17634419)1, 2 Yanagisawa A.... Guicheney P. (Neurology 2007)
    9. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. (PubMed id 17923109)1, 2 Biancheri R.... Bruno C. (Biochem. Biophys. Res. Commun. 2007)
    10. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. (PubMed id 14699049)1, 2 Manya H.... Endo T. (Proc. Natl. Acad. Sci. U.S.A. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29954 HGNC: 19743 AceView: POMT2 Ensembl:ENSG00000009830 euGenes: HUgn29954
    ECgene: POMT2 Kegg: 29954 H-InvDB: POMT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for POMT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POMT2[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=POMT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POMT2 gene:
    Search GeneIP for patents involving POMT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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