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    POMT2 protein O-mannosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 29954, updated on 7-May-2017
    Official Symbol
    POMT2provided by HGNC
    Official Full Name
    protein O-mannosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:19743
    See related
    Ensembl:ENSG00000009830 MIM:607439; Vega:OTTHUMG00000171556
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LGMD2N; MDDGA2; MDDGB2; MDDGC2
    Summary
    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]
    Orthologs
    Location:
    14q24.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (77274956..77320885, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77741299..77787225, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transmembrane protein 63C Neighboring gene microRNA 1260a Neighboring gene neuroglobin Neighboring gene glutathione S-transferase zeta 1 Neighboring gene transmembrane p24 trafficking protein family member 8 Neighboring gene ATP binding cassette subfamily G member 2 (Junior blood group) pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Mannose type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, organism-specific biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Mannose type O-glycan biosynthesis, conserved biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, conserved biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
    • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
      Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22309, DKFZp686G10254

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    dolichyl-phosphate-mannose-protein mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ER-associated misfolded protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of protein O-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    protein O-linked mannosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein O-mannosyl-transferase 2
    Names
    dolichyl-phosphate-mannose--protein mannosyltransferase 2
    NP_037514.2
    XP_011534977.1
    XP_011534978.1
    XP_011534979.1
    XP_011534981.1
    XP_016876733.1
    XP_016876734.1

    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.

    Genomic

    1. NG_008897.1 RefSeqGene

      Range
      5001..50927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_844

    mRNA and Protein(s)

    1. NM_013382.5NP_037514.2  protein O-mannosyl-transferase 2

      See identical proteins and their annotated locations for NP_037514.2

      Status: REVIEWED

      Source sequence(s)
      AC007375, BC031651, DB456599
      Consensus CDS
      CCDS9857.1
      UniProtKB/Swiss-Prot
      Q9UKY4
      Related
      ENSP00000261534.4, OTTHUMP00000246458, ENST00000261534.8, OTTHUMT00000414155
      Conserved Domains (4) summary
      smart00472
      Location:404459
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:50750
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:62306
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:538748
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      77274956..77320885 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536677.2XP_011534979.1  protein O-mannosyl-transferase 2 isoform X3

      Conserved Domains (4) summary
      smart00472
      Location:251306
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:50660
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam16192
      Location:385658
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
      cl21590
      Location:62168
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    2. XM_011536675.2XP_011534977.1  protein O-mannosyl-transferase 2 isoform X1

      Conserved Domains (4) summary
      smart00472
      Location:404459
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:50813
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:62306
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:538811
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    3. XM_011536676.2XP_011534978.1  protein O-mannosyl-transferase 2 isoform X2

      Conserved Domains (4) summary
      smart00472
      Location:293348
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam02366
      Location:1195
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam02815
      Location:245402
      MIR; MIR domain
      pfam16192
      Location:427700
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    4. XM_017021244.1XP_016876733.1  protein O-mannosyl-transferase 2 isoform X5

    5. XM_017021245.1XP_016876734.1  protein O-mannosyl-transferase 2 isoform X5

    6. XM_011536679.2XP_011534981.1  protein O-mannosyl-transferase 2 isoform X4

      Conserved Domains (2) summary
      smart00472
      Location:102157
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam16192
      Location:236509
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    RNA

    1. XR_001750282.1 RNA Sequence

    2. XR_001750280.1 RNA Sequence

      Related
      ENST00000452340.7
    3. XR_943416.2 RNA Sequence

    4. XR_001750279.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      77680748..77726684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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