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Pomk
Gene Detail
Symbol

Name
ID
Pomk
protein-O-mannose kinase
MGI:1921903
Synonyms
4930444A02Rik, Sgk196
Feature Type
protein coding gene
Genetic Map
Chromosome 8
14.25 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr8:25980604-25994121 bp, - strand
From NCBI annotation of GRCm38

  13518 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12580  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: POMK
Gene Tree: Pomk

Human
homologs
POMK, protein-O-mannose kinase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 84197
neXtProt AC: NX_Q9H5K3

Human Synonyms: MDDGA12, MDDGC12, SGK196

Human Chr (Location): 8p11.21; chr8:43093506-43123440 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human POMK

Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Gene trapped(20) Targeted(1)
Incidental mutations (data from APF , CvDC )
 
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.
 
Interactions
Pomk interacts with 243 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (1 records)
Data Summary: Results (8)    Tissues (6)    Tissue x Stage Matrix (view)
Assay TypeResults
Western blot 8
cDNA source data(36)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pomk ; ZFIN pomk    NEW 
Molecular
reagents
All nucleic(36) cDNA(36)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000037251 (Evidence)
Entrez Gene 74653 (Evidence)
UniGene 17631
DFCI TC1575285, TC1595080, TC1726380
DoTS DT.484896, DT.91346177, DT.97405047
NIA Mouse Gene Index U029675
EC 2.7.1.-
Consensus CDS Project CCDS22204.1
International Mouse Phenotyping Consortium Status Pomk
Sequences
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 sequences
All sequences(35) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(126 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
Protein Ontology PR:000014791 protein kinase-like protein SgK196
Graphical View of Protein Domain Structure
References
(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:214732 Di Costanzo S, et al., POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 1;23(21):5781-92
All references(32)

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
08/18/2015
MGI 6.0
The Jackson Laboratory