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Pmm2 Gene Detail
Summary
  • Symbol
    Pmm2
  • Name
    phosphomannomutase 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859214
    NCBI Gene: 54128
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:8455467-8475472 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 16, 4.24 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    107 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859214
protein coding gene Chr16:8455467-8480331 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022496
protein coding gene Chr16:5303400-5325982 (+)
A/J MGP_AJ_G0022458
protein coding gene Chr16:4992311-5012137 (+)
AKR/J MGP_AKRJ_G0022434
protein coding gene Chr16:5269486-5289312 (+)
BALB/cJ MGP_BALBcJ_G0022462
protein coding gene Chr16:5163287-5183141 (+)
C3H/HeJ MGP_C3HHeJ_G0022229
protein coding gene Chr16:5306500-5326340 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022911
protein coding gene Chr16:5452249-5475231 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020432
protein coding gene Chr16:5191908-5211384 (+)
CAST/EiJ MGP_CASTEiJ_G0021756
protein coding gene Chr16:5325555-5346620 (+)
CBA/J MGP_CBAJ_G0022198
protein coding gene Chr16:5661947-5681810 (+)
DBA/2J MGP_DBA2J_G0022329
protein coding gene Chr16:5039572-5059418 (+)
FVB/NJ MGP_FVBNJ_G0022305
protein coding gene Chr16:5020351-5040761 (+)
LP/J MGP_LPJ_G0022397
protein coding gene Chr16:5278965-5299858 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022327
protein coding gene Chr16:5451811-5472800 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022924
protein coding gene Chr16:5218352-5239247 (+)
PWK/PhJ MGP_PWKPhJ_G0021496
protein coding gene Chr16:5210025-5231305 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021326
protein coding gene Chr16:5273662-5295687 (+)
WSB/EiJ MGP_WSBEiJ_G0021804
protein coding gene Chr16:5253582-5274214 (+)



Homology
more
  • Human Ortholog
    PMM2, phosphomannomutase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PMM2, phosphomannomutase 2
  • Synonyms
    CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
  • Links
    NCBI Gene ID: 5373
    neXtProt AC: NX_O15305
    UniProt: O15305

  • Chr Location
    16p13.2; chr16:8788823-8862534 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Pmm2 mouse models; 2 with human PMM2 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 6 alleles in 4 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54128 NCBI Gene Model | MGI Sequence Detail 20006 C57BL/6J ±  kb
    transcript NM_016881 RefSeq | MGI Sequence Detail 1886 C57BL/6  
    polypeptide Q9Z2M7 UniProt | EBI | MGI Sequence Detail 242 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 104
      Genomic 1
      cDNA 102
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2146459, MGI:2146724
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 5
      Phenotypes 16
    • Earliest
      J:10119 Siu G, et al., Isolation of the murine intercellular adhesion molecule 1 (ICAM-1) gene. ICAM-1 enhances antigen-specific T cell activation. J Immunol. 1989 Dec 1;143(11):3813-20
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory