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Pomk Gene Detail
Summary
  • Symbol
    Pomk
  • Name
    protein-O-mannose kinase
  • Synonyms
    4930444A02Rik, Sgk196
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921903
    NCBI Gene: 74653
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:26470632-26484149 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 14.25 cM, cytoband A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    648 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921903
 protein coding gene Chr8:26470632-26484161 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033493
 protein coding gene Chr8:24062615-24078859 (-)
A/J MGP_AJ_G0033473
 protein coding gene Chr8:23182064-23197279 (-)
AKR/J MGP_AKRJ_G0033398
 protein coding gene Chr8:23950488-23963804 (-)
BALB/cJ MGP_BALBcJ_G0033469
 protein coding gene Chr8:23334698-23348807 (-)
C3H/HeJ MGP_C3HHeJ_G0033183
 protein coding gene Chr8:24162787-24178697 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033985
 protein coding gene Chr8:25041570-25060043 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030935
 protein coding gene Chr8:20458090-20472126 (-)
CAST/EiJ MGP_CASTEiJ_G0032509
 protein coding gene Chr8:23609821-23625587 (-)
CBA/J MGP_CBAJ_G0033158
 protein coding gene Chr8:26015024-26036894 (-)
DBA/2J MGP_DBA2J_G0033313
 protein coding gene Chr8:23153372-23167193 (-)
FVB/NJ MGP_FVBNJ_G0033257
 protein coding gene Chr8:22963070-22976396 (-)
LP/J MGP_LPJ_G0033402
 protein coding gene Chr8:24036983-24051913 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033300
 protein coding gene Chr8:25471771-25487572 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034004
 protein coding gene Chr8:23882118-23896136 (-)
PWK/PhJ MGP_PWKPhJ_G0032220
 protein coding gene Chr8:22794426-22808284 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032054
 protein coding gene Chr8:23273796-23287233 (-)
WSB/EiJ MGP_WSBEiJ_G0032625
 protein coding gene Chr8:24100471-24117669 (-)



Homology
more
  • Human Ortholog
    POMK, protein O-mannose kinase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POMK, protein O-mannose kinase
  • Synonyms
    MDDGA12, MDDGC12, SGK196
  • Links
    NCBI Gene ID: 84197
    neXtProt AC: NX_Q9H5K3
    UniProt: Q9H5K3

  • Chr Location
    8p11.21; chr8:43093498-43131180 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pomk mouse models; 2 with human POMK 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
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 2 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
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 gene trap insertion show hydrocephaly and cerebellar dysplasia. Mice also show learning defects, impaired motor strength and decreased sensitivity to pain.
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
    714
  • Tissues
    6
  • cDNA Data
    37
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 74653 NCBI Gene Model | MGI Sequence Detail 13518 C57BL/6J ±  kb
    transcript NM_029037 RefSeq | MGI Sequence Detail 3601 C57BL/6  
    polypeptide Q3TUA9 UniProt | EBI | MGI Sequence Detail 349 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      cDNA 37

      Microarray probesets 6
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 7
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory