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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. [provided by RefSeq, May 2013]
POMK (Protein O-Mannose Kinase) is a Protein Coding gene. Diseases associated with POMK include Muscular Dystrophy-Dystroglycanopathy , Type C, 12 and Muscular Dystrophy-Dystroglycanopathy , Type A, 12. Among its related pathways are Metabolism and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and phosphotransferase activity, alcohol group as acceptor.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004672 | protein kinase activity | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO:0016301 | kinase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016773 | phosphotransferase activity, alcohol group as acceptor | IBA,IDA | 23929950 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Mannose type O-glycan biosynthesis | ||
3 | Metabolism | ||
4 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001764 | neuron migration | IEA | -- |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0006493 | protein O-linked glycosylation | TAS | -- |
GO:0007420 | brain development | TAS | 23929950 |
GO:0007611 | learning or memory | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | POMK 33 |
|
OneToOne | |
SGK196 32 |
|
||||
dog (Canis familiaris) |
Mammalia | SGK196 32 |
|
||
POMK 33 |
|
OneToOne | |||
mouse (Mus musculus) |
Mammalia | Pomk 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Pomk 32 |
|
||
cow (Bos Taurus) |
Mammalia | LOC514490 32 |
|
||
POMK 33 |
|
OneToOne | |||
oppossum (Monodelphis domestica) |
Mammalia | POMK 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | POMK 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SGK196 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | POMK 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100497421 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4020 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | pomk 33 32 |
|
OneToOne | |
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8442 32 |
|
SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113361507 | benign, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,122,830(+) | G/A | coding_sequence_variant, missense_variant | |
rs1363145685 | uncertain-significance, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,122,280(+) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
rs138216719 | uncertain-significance, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,122,231(+) | C/A/T | coding_sequence_variant, missense_variant | |
rs143957574 | uncertain-significance, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,103,568(+) | A/G | coding_sequence_variant, missense_variant | |
rs1454006905 | pathogenic, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,103,785(+) | AGA/A | coding_sequence_variant, frameshift |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7187n100 | CNV | gain | 25217958 |
esv3617026 | CNV | gain | 21293372 |
esv3617027 | CNV | gain | 21293372 |
esv3891387 | CNV | gain | 25118596 |
nsv1032781 | CNV | gain | 25217958 |
nsv470208 | CNV | gain | 18288195 |
nsv477416 | CNV | novel sequence insertion | 20440878 |
nsv831302 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy-dystroglycanopathy , type c, 12 |
|
|
muscular dystrophy-dystroglycanopathy , type a, 12 |
|
|
congenital muscular dystrophy with cerebellar involvement |
|
|
walker-warburg syndrome |
|
|
cobblestone lissencephaly |
|
|