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    PMM2 phosphomannomutase 2 [ Homo sapiens (human) ]

    Gene ID: 5373, updated on 3-Dec-2024

    Summary

    Official Symbol
    PMM2provided by HGNC
    Official Full Name
    phosphomannomutase 2provided by HGNC
    Primary source
    HGNC:HGNC:9115
    See related
    Ensembl:ENSG00000140650 MIM:601785; AllianceGenome:HGNC:9115
    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
    PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2
    Summary
    The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PMM2 in Genome Data Viewer
    Location:
    16p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (8797839..8849325)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (8830591..8882071)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8891696..8943182)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene 4-aminobutyrate aminotransferase Neighboring gene uncharacterized LOC107984840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8845208-8845952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7177 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8891090-8891784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8891785-8892479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7178 Neighboring gene transmembrane protein 186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8923335-8923936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:8929774-8930308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:8930309-8930841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8940347-8940938 Neighboring gene uncharacterized LOC100130283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8953773-8954487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10355 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:8959743-8960380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:8960381-8961020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7181 Neighboring gene calcium regulated heat stable protein 1 Neighboring gene CARHSP1 divergent transcript

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The gene expression of phosphomannomutase 2 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human phosphomannomutase 2 (PMM2) at amino acid residues 10-11 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphomannomutase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables phosphomannomutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphomannomutase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    phosphomannomutase 2
    Names
    mannose-6-phosphate isomerase
    phosphomannose isomerase 1
    NP_000294.1
    XP_047290171.1
    XP_054236452.1

    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_009209.1 RefSeqGene

      Range
      5027..56513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000303.3NP_000294.1  phosphomannomutase 2

      See identical proteins and their annotated locations for NP_000294.1

      Status: REVIEWED

      Source sequence(s)
      AB209659, AK291537, BC008310, BF811414, DC366756
      Consensus CDS
      CCDS10536.1
      UniProtKB/Swiss-Prot
      A8K672, B7Z6R0, D3DUF3, O15305
      UniProtKB/TrEMBL
      A0A0S2Z4J6, A0A291FGD1, B2R6D4
      Related
      ENSP00000268261.4, ENST00000268261.9
      Conserved Domains (2) summary
      TIGR01484
      Location:10221
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
      pfam03332
      Location:29245
      PMM; Eukaryotic phosphomannomutase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      8797839..8849325
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434215.1XP_047290171.1  phosphomannomutase 2 isoform X1

      UniProtKB/TrEMBL
      B7Z6A1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      8830591..8882071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380477.1XP_054236452.1  phosphomannomutase 2 isoform X1

      UniProtKB/TrEMBL
      B7Z6A1