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Pomt2 Gene Detail
Summary
  • Symbol
    Pomt2
  • Name
    protein-O-mannosyltransferase 2
  • Synonyms
    A830009D15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444430
    NCBI Gene: 217734
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:87153635-87194742 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 41.30 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    888 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444430
 protein coding gene Chr12:87153635-87194742 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019978
 protein coding gene Chr12:87998577-88043238 (-)
A/J MGP_AJ_G0019936
 protein coding gene Chr12:84654202-84695727 (-)
AKR/J MGP_AKRJ_G0019911
 protein coding gene Chr12:86949919-86992670 (-)
BALB/cJ MGP_BALBcJ_G0019915
 protein coding gene Chr12:84987028-85028610 (-)
C3H/HeJ MGP_C3HHeJ_G0019721
 protein coding gene Chr12:87436845-87481475 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020367
 protein coding gene Chr12:90532018-90573270 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017985
 protein coding gene Chr12:81539349-81580471 (-)
CAST/EiJ MGP_CASTEiJ_G0019271
 protein coding gene Chr12:82460246-82506738 (-)
CBA/J MGP_CBAJ_G0019693
 protein coding gene Chr12:94016600-94059080 (-)
DBA/2J MGP_DBA2J_G0019806
 protein coding gene Chr12:84141855-84184327 (-)
FVB/NJ MGP_FVBNJ_G0019793
 protein coding gene Chr12:83138692-83178678 (-)
LP/J MGP_LPJ_G0019880
 protein coding gene Chr12:87876286-87919163 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019832
 protein coding gene Chr12:96759183-96804531 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020399
 protein coding gene Chr12:86578878-86620256 (-)
PWK/PhJ MGP_PWKPhJ_G0019035
 protein coding gene Chr12:78700335-78742825 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018830
 protein coding gene Chr12:81069662-81114419 (-)
WSB/EiJ MGP_WSBEiJ_G0019324
 protein coding gene Chr12:87350920-87396354 (-)



Homology
more
  • Human Ortholog
    POMT2, protein O-mannosyltransferase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POMT2, protein O-mannosyltransferase 2
  • Synonyms
    LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
  • Links
    NCBI Gene ID: 29954
    neXtProt AC: NX_Q9UKY4
    UniProt: Q9UKY4

  • Chr Location
    14q24.3; chr14:77274956-77320883 (-)  GRCh38
Human Diseases
more
  • Diseases
    7 with human POMT2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 5 genetic backgrounds
    11 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 one knock-out allele die between E8.5 and E9.5 with abnormal Reichert's membrane and runting. Mice homozygous for another allele die before implantation and arrest at the morula stage.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    7
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
membraneless 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
    931
  • Tissues
    140
  • cDNA Data
    45
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 217734 NCBI Gene Model | MGI Sequence Detail 41108 C57BL/6J ±  kb
    transcript NM_153415 RefSeq | MGI Sequence Detail 5082 C57BL/6  
    polypeptide Q8BGQ4 UniProt | EBI | MGI Sequence Detail 820 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 46
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2144992
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 9
      Gene Ontology 7
      Phenotypes 11
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory