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    Pmm2 phosphomannomutase 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 302915, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pmm2provided by RGD
    Official Full Name
    phosphomannomutase 2provided by RGD
    Primary source
    RGD:1309366
    See related
    EnsemblRapid:ENSRNOG00000002615 AllianceGenome:RGD:1309366
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable phosphomannomutase activity. Predicted to be involved in GDP-mannose biosynthetic process; mannose catabolic process; and protein N-linked glycosylation. Predicted to be located in cytoplasm; neuronal cell body; and nucleoplasm. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation and congenital disorder of glycosylation Ia. Orthologous to human PMM2 (phosphomannomutase 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 212.4), Heart (RPKM 206.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pmm2 in Genome Data Viewer
    Location:
    10q12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (7468371..7489574, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (6961521..6982913, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (7056258..7077443, complement)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene LITAF domain containing Neighboring gene calcium regulated heat stable protein 1 Neighboring gene transmembrane protein 186 Neighboring gene 4-aminobutyrate aminotransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Bjursell C, et al. Hum Mutat, 2000 Nov. PMID 11058896
    2. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Kondo I, et al. Clin Genet, 1999 Jan. PMID 10066032
    3. Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development. Cromphout K, et al. Eur J Neurosci, 2005 Aug. PMID 16115222
    4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. Prunotto M, et al. J Proteomics, 2013 Apr 26. PMID 23376485
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphomannomutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphomannomutase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in GDP-mannose biosynthetic process from fructose-6-phosphate ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GDP-mannose biosynthetic process from glucose ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GDP-mannose biosynthetic process from mannose ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in mannose catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mannose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphomannomutase 2
    NP_001100443.1
    XP_006245817.1
    XP_038941735.1
    XP_063124926.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001106973.1 → NP_001100443.1  phosphomannomutase 2

      See identical proteins and their annotated locations for NP_001100443.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474017
      UniProtKB/TrEMBL
      B5DF46, F7F1X7
      Related
      ENSRNOP00000003542.6, ENSRNOT00000003542.7
      Conserved Domains (2) summary
      PTZ00174
      Location:3 → 241
      PTZ00174; phosphomannomutase; Provisional
      TIGR01484
      Location:6 → 217
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      7468371..7489574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006245755.4 → XP_006245817.1  phosphomannomutase 2 isoform X1

      UniProtKB/TrEMBL
      A0A8I6AJ30, F7F1X7
      Related
      ENSRNOP00000092345.2, ENSRNOT00000096880.2
      Conserved Domains (2) summary
      COG0561
      Location:2 → 213
      Cof; Hydroxymethylpyrimidine pyrophosphatase and other HAD family phosphatases [Coenzyme transport and metabolism, General function prediction only]
      pfam03332
      Location:13 → 227
      PMM; Eukaryotic phosphomannomutase

    2. XM_063268856.1 → XP_063124926.1  phosphomannomutase 2 isoform X2

    3. XM_039085807.2 → XP_038941735.1  phosphomannomutase 2 isoform X3

      Conserved Domains (1) summary
      cl21460
      Location:4 → 104
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    Nucleotide Protein Strain
    Heading Accession and Version

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