KIF2C
kinesin family member 2C, the group of Kinesins|Small nucleolar RNA protein coding host genes
Basic information
Region (hg38): 1:44739818-44767767
Previous symbols: [ "KNSL6" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (74 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF2C gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006845.4. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 74 | 75 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 74 | 2 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KIF2C | protein_coding | protein_coding | ENST00000372224 | 21 | 27950 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000258 | 1.00 | 125307 | 0 | 441 | 125748 | 0.00176 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.39 | 335 | 415 | 0.807 | 0.0000231 | 4789 |
| Missense in Polyphen | 101 | 153 | 0.66012 | 1757 | ||
| Synonymous | -0.574 | 160 | 151 | 1.06 | 0.00000842 | 1354 |
| Loss of Function | 3.90 | 16 | 43.8 | 0.365 | 0.00000240 | 500 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00640 | 0.00616 |
| Ashkenazi Jewish | 0.000706 | 0.000695 |
| East Asian | 0.00215 | 0.00207 |
| Finnish | 0.00325 | 0.00310 |
| European (Non-Finnish) | 0.00148 | 0.00143 |
| Middle Eastern | 0.00215 | 0.00207 |
| South Asian | 0.000263 | 0.000261 |
| Other | 0.00100 | 0.000978 |
dbNSFP
Source:
- Function
- FUNCTION: In complex with KIF18B, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells (PubMed:21820309). Regulates the turnover of microtubules at the kinetochore and functions in chromosome segregation during mitosis (PubMed:19060894). Plays a role in chromosome congression and is required for the lateral to end-on conversion of the chromosome- microtubule attachment (PubMed:23891108). {ECO:0000269|PubMed:19060894, ECO:0000269|PubMed:21820309, ECO:0000269|PubMed:23891108}.;
- Pathway
- Regulation of Microtubule Cytoskeleton;Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Aurora B signaling;Intra-Golgi and retrograde Golgi-to-ER traffic
(Consensus)
Recessive Scores
- pRec
- 0.148
Intolerance Scores
- loftool
- 0.665
- rvis_EVS
- 0.27
- rvis_percentile_EVS
- 70.64
Haploinsufficiency Scores
- pHI
- 0.765
- hipred
- Y
- hipred_score
- 0.663
- ghis
- 0.585
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.924
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kif2c
- Phenotype
Gene ontology
- Biological process
- mitotic cell cycle;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;microtubule-based movement;microtubule depolymerization;mitotic metaphase plate congression;cell population proliferation;antigen processing and presentation of exogenous peptide antigen via MHC class II;establishment or maintenance of microtubule cytoskeleton polarity;cell division;metaphase plate congression;attachment of mitotic spindle microtubules to kinetochore;regulation of chromosome segregation
- Cellular component
- chromosome, centromeric region;kinetochore;condensed chromosome kinetochore;nucleus;centrosome;cytosol;kinesin complex;microtubule;cytoplasmic microtubule;microtubule cytoskeleton;membrane;microtubule plus-end
- Molecular function
- microtubule motor activity;protein binding;ATP binding;microtubule binding;ATPase activity;centromeric DNA binding;microtubule plus-end binding