MPLKIP
protein-codingM-phase specific PLK1 interacting protein
Gene summary
The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]
- C7orf11
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~8.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0021013
Submitter: G2P
Inheritance Pattern: AR
Disease ID:MONDO:0021013
Submitter: Genomics England PanelApp
Inheritance Pattern: AR
Disease ID:MONDO:0021013
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AR
Disease ID:MONDO:0018053
Submitter: Orphanet
Inheritance Pattern: AR
Disease ID:MONDO:0021013
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Allergy/Immunology/Infectious; Dental; Dermatologic; Genitourinary; Neurologic; Ophthalmologic
Intervention: Allergy/Immunology/Infectious
Rationale: A number of individuals have been reported with frequent infections, and awareness and prompt and aggressive treatment of infections may be beneficial
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MPLKIP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_138701.4. 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 | 1 | 1 | 45 | 47 | ||
| missense | 1 | 81 | 2 | 84 | ||
| nonsense | 4 | 2 | 1 | 7 | ||
| start loss | 1 | 1 | 2 | |||
| frameshift | 11 | 6 | 1 | 18 | ||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 17 | 10 | 85 | 47 | 0 | 159 |
Highest pathogenic variant AF is 0.000030216006
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_619646.1 | 2 | MANE Select | |
| Ensembl | ENSP00000304553.5 | 2 | MANE Select | |
| Ensembl | ENSP00000764875.1 | 2 | Standard | |
| Ensembl | ENSP00000791313.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cell cycle
- cell division
Molecular Function
- protein binding
Cellular Component
- nucleus
- nucleoplasm
- cytoplasm
- Golgi apparatus
- centrosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000306984
- Coding exons
- 2
- Length
- 8637
- Individuals with no LoFs
- 125705
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 11
- Defined
- 125716
- p
- 0.0000437
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.176 | 106 | 101 | 1.05 | 0.00000471 | 1108 |
| Missense (PolyPhen) | 31 | 31.948 | 0.97034 | 290 | ||
| Synonymous | -0.597 | 47 | 42.1 | 1.12 | 0.00000192 | 377 |
| Loss of Function | 0.276 | 6 | 6.77 | 0.886 | 2.93e-7 | 64 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0.00030 | 0.00030 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000062 | 0.000062 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis. {ECO:0000269|PubMed:17310276}.;
- Disease
- DISEASE: Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non- photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity. {ECO:0000269|PubMed:15645389}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.142
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 | Medium |
| Cancer | Medium | Medium | Medium |