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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
  • Gene Overview
    MyGene.info: POMT2
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:87106861-87147968 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 41.30 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    127 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 Chr12:87106861-87147968 (-)
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
    10
  • Human Ortholog
    POMT2, protein O-mannosyltransferase 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
  • Links
    NCBI Gene ID: 29954
    neXtProt AC: NX_Q9UKY4
    UniProt: Q9UKY4

  • Chr Location
    14q24.3; chr14:77274956-77320885 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 5297
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: POMT2
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human POMT2 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 3 alleles in 5 genetic backgrounds
    10 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.
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
  • 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 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
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
  • Interactions
    less
    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 47
      cDNA 45
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2144992
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 7
      Gene Ontology 6
      Phenotypes 10
    • 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:215959 Yagi H, et al., AGO61-dependent GlcNAc modification primes the formation of functional glycans on alpha-dystroglycan. Sci Rep. 2013;3:3288

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory