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Pmm2 phosphomannomutase 2 [ Rattus norvegicus (Norway rat) ]

Gene ID: 302915, updated on 28-Oct-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, Oct 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 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 IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
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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