MOK
protein-codingMOK protein kinase
Gene summary
This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
- RAGE
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~80.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MOK variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014226.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 71 | 3 | 1 | 75 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 2 | 2 | ||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 77 | 4 | 1 | 82 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055041.1 | 12 | MANE Select | |
| Ensembl | ENSP00000355304.2 | 12 | MANE Select | |
| RefSeq | NP_001258940.1 | 11 | Standard | |
| RefSeq | NP_001317163.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein phosphorylation
- signal transduction
- regulation of gene expression
- intracellular signal transduction
- regulation of cell cycle
Molecular Function
- protein kinase activity
- protein serine/threonine kinase activity
- cyclin-dependent protein serine/threonine kinase activity
- ATP binding
- metal ion binding
Cellular Component
- nucleus
- cytoplasm
- cilium
- ciliary base
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000361847
- Coding exons
- 12
- Length
- 80701
- Individuals with no LoFs
- 100657
- Homozygous LoFs
- 981
- Heterozygous LoFs
- 24110
- Defined
- 125748
- p
- 0.105
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.333 | 232 | 247 | 0.940 | 0.0000144 | 2728 |
| Missense (PolyPhen) | 68 | 87.766 | 0.77478 | 999 | ||
| Synonymous | -0.448 | 110 | 104 | 1.06 | 0.00000710 | 796 |
| Loss of Function | -1.05 | 29 | 23.5 | 1.23 | 0.00000120 | 287 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.16 | 0.16 | notable |
| Latino/Admixed American | 0.070 | 0.064 | notable |
| Ashkenazi Jewish | 0.097 | 0.092 | notable |
| East Asian | 0.025 | 0.024 | notable |
| Finnish | 0.11 | 0.11 | notable |
| European (Non-Finnish) | 0.12 | 0.12 | notable |
| South Asian | 0.16 | 0.14 | notable |
| Other | 0.12 | 0.11 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Able to phosphorylate several exogenous substrates and to undergo autophosphorylation. Negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner. {ECO:0000250|UniProtKB:Q9WVS4}.;
Intolerance Scores
- RVIS EVS
- 1.02
- RVIS percentile EVS
- 91.05
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |