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Pgam5 Gene Detail
Summary
  • Symbol
    Pgam5
  • Name
    phosphoglycerate mutase family member 5
  • Synonyms
    2610528A17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919792
    NCBI Gene: 72542
  • Gene Overview
    MyGene.info: PGAM5
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:110259135-110269899 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 53.43 cM, cytoband F
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    137 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919792
protein coding gene Chr5:110259130-110269913 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029883
protein coding gene Chr5:112703491-112713471 (-)
A/J MGP_AJ_G0029848
protein coding gene Chr5:108338949-108350653 (-)
AKR/J MGP_AKRJ_G0029786
protein coding gene Chr5:111787779-111806827 (-)
BALB/cJ MGP_BALBcJ_G0029859
protein coding gene Chr5:109707298-109716476 (-)
C3H/HeJ MGP_C3HHeJ_G0029579
protein coding gene Chr5:112213668-112224154 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030312
protein coding gene Chr5:117149280-117161309 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027541
protein coding gene Chr5:103164553-103173833 (-)
CAST/EiJ MGP_CASTEiJ_G0028987
protein coding gene Chr5:111073042-111083770 (-)
CBA/J MGP_CBAJ_G0029546
protein coding gene Chr5:121552519-121564816 (-)
DBA/2J MGP_DBA2J_G0029696
protein coding gene Chr5:108403380-108414639 (-)
FVB/NJ MGP_FVBNJ_G0029653
protein coding gene Chr5:107079546-107087843 (-)
LP/J MGP_LPJ_G0029784
protein coding gene Chr5:113264144-113274988 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029684
protein coding gene Chr5:126198692-126215739 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030353
protein coding gene Chr5:111219717-111229966 (-)
PWK/PhJ MGP_PWKPhJ_G0028701
protein coding gene Chr5:106993582-107003468 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028539
protein coding gene Chr5:108687965-108697764 (-)
WSB/EiJ MGP_WSBEiJ_G0029063
protein coding gene Chr5:111675798-111685841 (-)



Homology
more
  • Human Ortholog
    PGAM5, PGAM family member 5, mitochondrial serine/threonine protein phosphatase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PGAM5, PGAM family member 5, mitochondrial serine/threonine protein phosphatase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BXLBV68
  • Links
    NCBI Gene ID: 192111
    neXtProt AC: NX_Q96HS1
    UniProt: Q96HS1

  • Chr Location
    12q24.33; chr12:132710807-132722737 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 4 alleles in 2 genetic backgrounds
    23 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a null allele show Parkinson-like movement, dopaminergic neuron loss, and altered mitochondrial homeostasis. Homozygotes for a different null allele are smaller, with males born at sub-Mendelian ratios. Macrophages show impaired inflammasome activation and IL-1beta secretion.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 72542 NCBI Gene Model | MGI Sequence Detail 10765 C57BL/6J ±  kb
transcript NM_001163538 RefSeq | MGI Sequence Detail 2079 C57BL/6  
polypeptide Q8BX10 UniProt | EBI | MGI Sequence Detail 288 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 59
    cDNA 59

    Microarray probesets 4
References
more
  • Summaries
    All 50
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 23
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:250512 Li J, et al., CITGeneDB: a comprehensive database of human and mouse genes enhancing or suppressing cold-induced thermogenesis validated by perturbation experiments in mice. Database (Oxford). 2018;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory