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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

POMT2 Gene

protein-coding   GIFtS: 62
GCID: GC14M077741

Protein-O-Mannosyltransferase 2

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pomt2-related muscle diseases, and limb-girdle muscular dystrophy type 2n. GO annotations related to this gene include dolichyl-phosphate-mannose-protein mannosyltransferase activity and metal ion binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for POMT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
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:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKY4

  • POMT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POMT2 Protein Expression
    REFSEQ proteins: NP_037514.2  
    ENSEMBL proteins: 
     ENSP00000261534   ENSP00000451967   ENSP00000451730   ENSP00000451651   ENSP00000451115  
     ENSP00000450630   ENSP00000452060  

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    Cloud-Clone Corp. Proteins for POMT2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    POMT2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    POMT2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000030mannosyltransferase activity ----
    GO:0004169dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    POMT2 for ontologies           About GeneDecksing


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

    POMT2 for phenotypes           About GeneDecksing

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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POMT2 About                                                                                                See pathways by source

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

    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


    POMT2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POMT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/59 Interacting proteins for POMT2 (Q9UKY43 ENSP000002615344) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

    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 (GO ID links to tree view):    About this table

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

    POMT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about POMT2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/23 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
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    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 

    24/177 AceView cDNA sequences (see all 177):

    AI628073 AW206197 AW161593 BU682506 R79071 AI337014 AW160370 AI968622 
    NM_013382 AI246447 BQ005294 BU159613 BU846069 BU742093 AI290746 AL704632 
    Z40419 AA258184 BU627752 CB148531 BX248027 AI299881 AI682784 BM985418 

    GeneLoc Exon Structure

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POMT2 expression in normal human tissues (normalized intensities)      POMT2 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See POMT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POMT2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including POMT2: 
              Glycosylation in human mouse rat

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    In Situ
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    (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)
    About This Section

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

    Orthologs for POMT2 gene from 6/18 species (see all 18)    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_421287.3  XP_421287.2 
    lizard
    (Anolis carolinensis)
    Reptilia POMT26
    Uncharacterized protein
    79(a)
    1 ↔ 1
    1(20784433-20818051)
    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
    mannosyltransferase less3
    Protein O-mannosyltransferase 21
    49(a)3
    58.48(n)1
    55.6(a)1
      1C43
    310241  NM_130502.21  NP_569858.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMT3(YOR321W)4
    PMT21
    Protein O-mannosyltransferase, transfers mannose residues from dolichyl phosphate-D-mannose to protein serine/threonine residues; acts in a complex with Pmt5p, can instead interact with Pmt1p in some conditions; target for new antifungals less4
    Pmt2p1
    47.41(n)1
    38.86(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)
    About This Section
    Paralogs for POMT2 gene
    2 SIMAP similar genes for POMT2 using alignment to 6 protein entries:     POMT2_HUMAN (see all proteins):
    DKFZp686G10254    POMT1

    POMT2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1144 SNPs in POMT2 are shown (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
    ----------
    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--------
    VAR_0650484
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)4--see VAR_0650482 W R 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20 diseases for POMT2:    About MalaCards
    pomt2-related muscle diseases    limb-girdle muscular dystrophy type 2n    walker-warburg syndrome    muscular dystrophy-dystroglycanopathy
    muscle eye brain disease    brain disease    congenital muscular dystrophy    cleft lip +/- cleft palate
    limb-girdle muscular dystrophy    cleft palate    lissencephaly    muscular dystrophy
    cleft lip    intellectual disability    microcephaly    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    mental retardation    myopathy    neuropathy

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

    POMT2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for POMT2 gene, integrated from 9 sources (see all 44):
    (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. (2007)
    2. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E....Bertini E. (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. (2002)
    4. POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study. (PubMed id 18513969)1, 4, 9 Messina S....Mercuri E. (2008)
    5. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (PubMed id 15894594)1, 2, 9 van Reeuwijk J.... van Bokhoven H. (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. (2001)
    7. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. (PubMed id 19138766)1, 2 Yanagisawa A....Guicheney P. (2009)
    8. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. (PubMed id 17634419)1, 2 Yanagisawa A....Guicheney P. (2007)
    9. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. (PubMed id 17923109)1, 2 Biancheri R....Bruno C. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 29954 HGNC: 19743 AceView: POMT2 Ensembl:ENSG00000009830 euGenes: HUgn29954
    ECgene: POMT2 Kegg: 29954 H-InvDB: POMT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for POMT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POMT2
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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