Official symbol | POMK |
Gene id | 84197 |
Organism | Homo sapiens |
Official full symbol | protein O-mannose kinase |
Gene type | protein-coding |
Also known as | MDDGA12, MDDGC12, SGK196 |
Summary | This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. |
Genomic regions | Chromosome 8 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
POMK-219 | ENST00000676193.1 | 9535 | 350aa | Protein coding | CCDS6141 | - | - | GENCODE basic, APPRIS P1, |
POMK-201 | ENST00000331373.10 | 1868 | 350aa | Protein coding | CCDS6141 | Q9H5K3 | NM_032237.5 | TSL:2, GENCODE basic, APPRIS P1, MANE Select v0.92, |
POMK-209 | ENST00000674937.1 | 3922 | 336aa | Protein coding | - | - | - | GENCODE basic, |
POMK-215 | ENST00000675675.1 | 2405 | 256aa | Protein coding | - | - | - | CDS 5' incomplete, |
POMK-205 | ENST00000674676.1 | 1951 | 256aa | Protein coding | - | - | - | CDS 5' incomplete, |
POMK-211 | ENST00000675129.1 | 625 | 94aa | Protein coding | - | - | - | CDS 3' incomplete, |
POMK-208 | ENST00000674820.1 | 353 | 94aa | Protein coding | - | - | - | CDS 3' incomplete, |
POMK-202 | ENST00000518991.6 | 352 | 94aa | Protein coding | - | E5RJD5 | - | CDS 3' incomplete, TSL:4, |
POMK-212 | ENST00000675322.1 | 3595 | 256aa | Nonsense mediated decay | - | - | - | CDS 5' incomplete, |
POMK-204 | ENST00000674646.1 | 3576 | 256aa | Nonsense mediated decay | - | - | - | CDS 5' incomplete, |
POMK-207 | ENST00000674782.1 | 1917 | 121aa | Nonsense mediated decay | - | - | - | - |
POMK-218 | ENST00000676178.1 | 1899 | 160aa | Nonsense mediated decay | - | - | - | - |
POMK-203 | ENST00000614426.2 | 1712 | 94aa | Nonsense mediated decay | - | Q9H5K3 | - | TSL:4, |
POMK-216 | ENST00000675791.1 | 273 | No protein | Processed transcript | - | - | - | - |
POMK-214 | ENST00000675509.1 | 146 | No protein | Processed transcript | - | - | - | - |
POMK-217 | ENST00000676163.1 | 145 | No protein | Processed transcript | - | - | - | - |
POMK-210 | ENST00000675013.1 | 126 | No protein | Processed transcript | - | - | - | - |
POMK-220 | ENST00000676356.1 | 122 | No protein | Processed transcript | - | - | - | - |
POMK-213 | ENST00000675501.1 | 120 | No protein | Processed transcript | - | - | - | - |
POMK-206 | ENST00000674727.1 | 2342 | No protein | Retained intron | - | - | - | - |
Target Gene | POMK |
This KO Strategy | loading |
Red Cotton™ Notes | Gene POMK had been KO in hek293t cell line. |
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