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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 i... See more...
Aliases for POMK Gene
Aliases for POMK Gene
External Ids for POMK Gene
- HGNC: 26267
- Entrez Gene: 84197
- Ensembl: ENSG00000185900
- OMIM: 615247
- UniProtKB: Q9H5K3
Previous GeneCards Identifiers for POMK Gene
- GC08P042949
Summaries for POMK Gene
-
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]
GeneCards Summary for POMK Gene
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 of proteins and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and phosphotransferase activity, alcohol group as acceptor.
UniProtKB/Swiss-Prot Summary for POMK Gene
-
Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.
Additional gene information for POMK Gene
- HGNC(26267)
- Entrez Gene(84197)
- Ensembl(ENSG00000185900)
- OMIM(615247)
- UniProtKB(Q9H5K3)
- Open Targets Platform(ENSG00000185900)
- Monarch Initiative
- Search for POMK at DataMed
- Search for POMK at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POMK Gene
Genomics for POMK Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for POMK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around POMK on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POMK
Genomic Locations for POMK Gene
Genomic Locations for POMK Gene
- chr8:43,093,506-43,123,434
- (GRCh38/hg38)
- Size:
- 29,929 bases
- Orientation:
- Plus strand
- chr8:42,948,657-42,978,577
- (GRCh37/hg19)
- Size:
- 29,921 bases
- Orientation:
- Plus strand
Genomic View for POMK Gene
Genes around POMK on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p11.21 by HGNC
- 8p11.21 by Entrez Gene
- 8p11.21 by Ensembl
POMK Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for POMK Gene
Proteins for POMK Gene
-
Protein details for POMK Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H5K3-SG196_HUMAN
- Recommended name:
- Protein O-mannose kinase
- Protein Accession:
- Q9H5K3
Protein attributes for POMK Gene
- Size:
- 350 amino acids
- Molecular mass:
- 40050 Da
- Quaternary structure:
- No Data Available
Protein Expression for POMK Gene
Post-translational modifications for POMK Gene
Other Protein References for POMK Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for POMK
- Invitrogen Antibodies for POMK (AFLGC-POMK)
- antibodies-online: Show 22 available SGK196 Antibodies ranked by validation data
-
Biorbyt antibodies for POMK
-
Santa Cruz Biotechnology (SCBT) Antibodies for POMK
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for POMK
- Origene Custom Protein Services for POMK
-
Signalway Proteins for POMK
-
Abcam proteins for POMK
No data available for DME Specific Peptides for POMK Gene
Domains & Families for POMK Gene
Gene Families for POMK Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for POMK Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for POMK Gene
- GenScript: Design optimal peptide antigens:
-
- Sugen kinase 196 (SG196_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H5K3UniProtKB/Swiss-Prot:
SG196_HUMAN :- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.
- Family:
-
- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.
Function for POMK Gene
Molecular function for POMK Gene
- UniProtKB/Swiss-Prot Function:
- Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-O-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-seryl-[protein] + ATP = 3-O-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-6-O-phospho-alpha-D-mannosyl)-L-seryl-[protein] + ADP + H(+); Xref=Rhea:RHEA:52604, Rhea:RHEA-COMP:13306, Rhea:RHEA-COMP:13307, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:136707, ChEBI:CHEBI:136708, ChEBI:CHEBI:456216; EC=2.7.1.183; Evidence={ECO:0000269|PubMed:23929950};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-O-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl-[protein] + ATP = 3-O-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-6-O-phospho-alpha-D-mannosyl)-L-threonyl-[protein] + ADP + H(+); Xref=Rhea:RHEA:52616, Rhea:RHEA-COMP:13308, Rhea:RHEA-COMP:13309, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:136709, ChEBI:CHEBI:136710, ChEBI:CHEBI:456216; EC=2.7.1.183; Evidence={ECO:0000269|PubMed:23929950};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=4.1 uM for ATP {ECO:0000269|PubMed:23929950};
Enzyme Numbers (IUBMB) for POMK Gene
Phenotypes From GWAS Catalog for POMK Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for POMK Gene
- MGI mutant phenotypes for POMK:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for POMK:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability
- Decreased Salmonella enterica Typhimurium invasion
- Strongly decreased CFP-tsO45G cell surface transport
- Increased viability
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased cell migration
- Increased cell number in G2M, increased number of polyploid cells, increased number of cells with high perimeter-to-area ratio nuclei
- Increased cell spreading
Animal Model Products
-
Taconic Biosciences Mouse Models for POMK
CRISPR Products
-
OriGene CRISPR knockouts for POMK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POMK
-
Santa Cruz Biotechnology (SCBT) CRISPR for POMK
miRNA for POMK Gene
- miRTarBase miRNAs that target POMK
-
- hsa-miR-615-3p (MIRT039834)
- mmu-miR-5110 (MIRT592364)
- mmu-miR-1906 (MIRT592365)
- mmu-miR-322-5p (MIRT592366)
- mmu-miR-15b-5p (MIRT592367)
- mmu-miR-195a-5p (MIRT592368)
- mmu-miR-15a-5p (MIRT592369)
- mmu-miR-16-5p (MIRT592370)
- mmu-miR-1907 (MIRT592371)
- mmu-miR-497a-5p (MIRT592372)
- mmu-miR-3106-5p (MIRT595585)
- mmu-miR-24-3p (MIRT595586)
- mmu-miR-677-5p (MIRT595587)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POMK
- Browse OriGene Inhibitory RNA Products For POMK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMK
Clone Products
- Sino Biological Human cDNA Clone for POMK
- Addgene plasmids for POMK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POMK
Cell Line Products
-
Horizon Cell Lines for POMK
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POMK Gene
Localization for POMK Gene
Subcellular locations from UniProtKB/Swiss-Prot for POMK Gene
- Endoplasmic reticulum membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| extracellular | 3 |
| golgi apparatus | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| cytosol | 1 |
| peroxisome | 0 |
| lysosome | 0 |
- Cytosol (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for POMK Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Mannose type O-glycan biosynthesis | ||
| 3 | Metabolism | ||
| 4 | O-linked glycosylation | ||
Pathways by source for POMK Gene
3 Reactome pathways for POMK Gene
2 KEGG pathways for POMK Gene
Interacting Proteins for POMK Gene
Selected Interacting proteins:
Q9H5K3-SG196_HUMAN
ENSP00000331258
for POMK Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for POMK
| 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 | -- |
No data available for SIGNOR curated interactions for POMK Gene
Transcripts for POMK Gene
mRNA/cDNA for POMK Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000331373 1868 nts (view in UCSC)
- ENST00000518991 564 nts (view in UCSC)
- ENST00000614426 1527 nts (view in UCSC)
CRISPR Products
-
OriGene CRISPR knockouts for POMK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POMK
-
Santa Cruz Biotechnology (SCBT) CRISPR for POMK
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POMK
- Browse OriGene Inhibitory RNA Products For POMK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMK
Clone Products
- Sino Biological Human cDNA Clone for POMK
- Addgene plasmids for POMK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POMK
Relevant External Links for POMK Gene
- GeneLoc Exon Structure for
- POMK
Expression for POMK Gene
This gene is overexpressed in Fetal Brain (26.5), Placenta (20.2), Testis (15.0), and Frontal cortex (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POMK Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POMK
mRNA Expression by UniProt/SwissProt for POMK Gene:
Q9H5K3-SG196_HUMAN
Tissue specificity:
Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues.
Evidence on tissue expression from TISSUES for POMK Gene
- Nervous system(4.5)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for POMK Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- face
- forehead
- head
- inner ear
- jaw
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- outer ear
- pituitary gland
- skull
- tongue
Thorax:
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- intestine
- kidney
- large intestine
Pelvis:
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for POMK
-
OriGene qPCR primer pairs and template standards for POMK
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POMK Gene
Orthologs for POMK Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | POMK 31 |
|
OneToOne | |
| SGK196 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | SGK196 30 |
|
||
| POMK 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Pomk 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pomk 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | LOC514490 30 |
|
||
| POMK 31 |
|
OneToOne | |||
| Oppossum (Monodelphis domestica) |
Mammalia | POMK 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | POMK 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SGK196 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | POMK 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497421 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4020 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pomk 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8442 30 |
|
- Species where no ortholog for POMK was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for POMK Gene
- ENSEMBL:
- Gene Tree for POMK (if available)
- TreeFam:
- Gene Tree for POMK (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for POMK: view image
Paralogs for POMK Gene
Pseudogenes.org Pseudogenes for POMK Gene
No data available for Paralogs for POMK Gene
Variants for POMK Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POMK Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 645576 | Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,122,539(+) | G/A | MISSENSE_VARIANT | |
| 661426 | Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,103,624(+) | A/C | MISSENSE_VARIANT | |
| 665426 | Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,103,819(+) | G/A | MISSENSE_VARIANT | |
| 704894 | Likely Benign: not provided | 43,103,599(+) | G/T | SYNONYMOUS_VARIANT | |
| 705716 | Likely Benign: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 43,103,592(+) | G/A | MISSENSE_VARIANT |
| 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 |
Residual Variation Intolerance Score:
61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.89;
48.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for POMK Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMK Gene
Disorders for POMK Gene
(20) MalaCards diseases for POMK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| 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 |
|
|
| congenital muscular dystrophy-dystroglycanopathy type a12 |
|
|
Search POMK in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SG196_HUMAN- Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:23519211, ECO:0000269 PubMed:23929950, ECO:0000269 PubMed:24556084, ECO:0000269 PubMed:24925318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12) [MIM:616094]: An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. {ECO:0000269 PubMed:24925318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for POMK
No data available for Genatlas for POMK Gene
Publications for POMK Gene
- Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. (PMID: 23519211) Jae LT … Brummelkamp TR (Science (New York, N.Y.) 2013) 2 3 4
- POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. (PMID: 24925318) Di Costanzo S … Manzini MC (Human molecular genetics 2014) 3 4
- POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. (PMID: 24556084) von Renesse A … Schuelke M (Journal of medical genetics 2014) 3 4
- SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. (PMID: 23929950) Yoshida-Moriguchi T … Campbell KP (Science (New York, N.Y.) 2013) 3 4
- Emerging roles of pseudokinases. (PMID: 16879967) Boudeau J … Alessi DR (Trends in cell biology 2006) 2 3
ExternalLinks
Products for POMK Gene
- Custom Antibody ServicesOriGene Antibodies for POMK
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for POMK
- Origene Custom Protein Services for POMK
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POMK
- Browse OriGene Inhibitory RNA Products For POMK
- OriGene qPCR primer pairs for POMK
- OriGene qPCR primer pairs and template standards for POMK
- OriGene CRISPR knockouts for POMK
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For POMK
- Sino Biological Human cDNA Clone for POMK
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for POMK
- Novus Biologicals proteins and lysates for POMK
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam proteins for POMK
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for POMK
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for POMK (AFLGC-POMK)
- VectorBuilder Custom and pre-made DNA vectors for POMK (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for POMK (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for POMK (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for POMK CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for POMK
- Addgene plasmids for POMK
- antibodies-online: Show 22 available SGK196 Antibodies ranked by validation data
- antibodies-online: Search results for available SGK196 related products ranked by validation data
- antibodies-online: Search results for available SGK196 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for POMK
- Search Santa Cruz Biotechnology (SCBT) for POMK siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for POMK
- Horizon Cell Lines for POMK
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POMK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POMK
- Search GeneCopoeia for miRNA 3'UTR Target clone products for POMK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMK
- Biorbyt antibodies for POMK
- Signalway Proteins for POMK
Sources for POMK Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB