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

    Gene ID: 29954, updated on 6-Jun-2024

    Summary

    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; AllianceGenome:HGNC:19743
    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; LGMDR14
    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]
    Expression
    Broad expression in testis (RPKM 9.9), thyroid (RPKM 4.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See POMT2 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77274956..77320883, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71484305..71530246, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77741299..77787226, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903351 Neighboring gene microRNA 1260a Neighboring gene neuroglobin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77769341-77769842 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77769843-77770342 Neighboring gene Sharpr-MPRA regulatory region 2495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77787600-77788461 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:77795945-77797144 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22309, DKFZp686G10254

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mannosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in basement membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein O-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in reactive gliosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein O-mannosyl-transferase 2
    Names
    dolichyl-phosphate-mannose--protein mannosyltransferase 2
    NP_037514.2
    XP_011534977.1
    XP_011534979.1
    XP_047287268.1
    XP_047287269.1
    XP_047287270.1
    XP_047287271.1
    XP_047287272.1
    XP_047287273.1
    XP_047287274.1
    XP_047287275.1
    XP_047287276.1
    XP_054231897.1
    XP_054231898.1
    XP_054231899.1
    XP_054231900.1
    XP_054231901.1
    XP_054231902.1
    XP_054231903.1
    XP_054231904.1
    XP_054231905.1
    XP_054231906.1
    XP_054231907.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013382.7NP_037514.2  protein O-mannosyl-transferase 2

      See identical proteins and their annotated locations for NP_037514.2

      Status: REVIEWED

      Source sequence(s)
      AC007375, AC007954
      Consensus CDS
      CCDS9857.1
      UniProtKB/Swiss-Prot
      Q9NSG6, Q9P1W0, Q9P1W2, Q9UKY4
      UniProtKB/TrEMBL
      A0A804HJN3
      Related
      ENSP00000261534.4, ENST00000261534.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      77274956..77320883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431314.1XP_047287270.1  protein O-mannosyl-transferase 2 isoform X4

      UniProtKB/TrEMBL
      Q6AHY3
    2. XM_047431318.1XP_047287274.1  protein O-mannosyl-transferase 2 isoform X9

      Related
      ENSP00000451967.2, ENST00000556394.2
    3. XM_011536677.4XP_011534979.1  protein O-mannosyl-transferase 2 isoform X7

      UniProtKB/TrEMBL
      A0A804HJN3
      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
    4. XM_047431316.1XP_047287272.1  protein O-mannosyl-transferase 2 isoform X6

      UniProtKB/TrEMBL
      A0A804HJN3
    5. XM_011536675.3XP_011534977.1  protein O-mannosyl-transferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A804HJN3
      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
    6. XM_047431313.1XP_047287269.1  protein O-mannosyl-transferase 2 isoform X3

      UniProtKB/TrEMBL
      A0A804HJN3
    7. XM_047431312.1XP_047287268.1  protein O-mannosyl-transferase 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HJN3
    8. XM_047431320.1XP_047287276.1  protein O-mannosyl-transferase 2 isoform X11

    9. XM_047431319.1XP_047287275.1  protein O-mannosyl-transferase 2 isoform X10

      Related
      ENST00000682955.1
    10. XM_047431317.1XP_047287273.1  protein O-mannosyl-transferase 2 isoform X8

      UniProtKB/TrEMBL
      Q6AHY3
    11. XM_047431315.1XP_047287271.1  protein O-mannosyl-transferase 2 isoform X5

      UniProtKB/TrEMBL
      Q59GJ5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      71484305..71530246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375925.1XP_054231900.1  protein O-mannosyl-transferase 2 isoform X4

      UniProtKB/TrEMBL
      Q6AHY3
    2. XM_054375930.1XP_054231905.1  protein O-mannosyl-transferase 2 isoform X9

    3. XM_054375928.1XP_054231903.1  protein O-mannosyl-transferase 2 isoform X7

      UniProtKB/TrEMBL
      A0A804HJN3
    4. XM_054375927.1XP_054231902.1  protein O-mannosyl-transferase 2 isoform X6

      UniProtKB/TrEMBL
      A0A804HJN3
    5. XM_054375923.1XP_054231898.1  protein O-mannosyl-transferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A804HJN3
    6. XM_054375924.1XP_054231899.1  protein O-mannosyl-transferase 2 isoform X3

      UniProtKB/TrEMBL
      A0A804HJN3
    7. XM_054375922.1XP_054231897.1  protein O-mannosyl-transferase 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HJN3
    8. XM_054375932.1XP_054231907.1  protein O-mannosyl-transferase 2 isoform X11

    9. XM_054375931.1XP_054231906.1  protein O-mannosyl-transferase 2 isoform X10

    10. XM_054375929.1XP_054231904.1  protein O-mannosyl-transferase 2 isoform X8

      UniProtKB/TrEMBL
      Q6AHY3
    11. XM_054375926.1XP_054231901.1  protein O-mannosyl-transferase 2 isoform X5

      UniProtKB/TrEMBL
      Q59GJ5