KIF2C
protein-codingkinesin family member 2C, the group of Kinesins|Small nucleolar RNA protein coding host genes
Gene summary
This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
- KNSL6
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~27.9 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 KIF2C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_006845.4. 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 | 2 | 1 | 3 | |||
| missense | 90 | 1 | 91 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 96 | 2 | 0 | 98 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_006836.2 | 21 | MANE Select | |
| Ensembl | ENSP00000361298.4 | 21 | MANE Select | |
| RefSeq | NP_001284584.1 | 20 | Standard | |
| RefSeq | NP_001284585.1 | 20 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Regulation of Microtubule Cytoskeleton
- Signal Transduction
- Vesicle-mediated transport
- Membrane Trafficking
- Kinesins
Biological Process
- mitotic cell cycle
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
- microtubule-based movement
- microtubule depolymerization
- mitotic metaphase plate congression
Molecular Function
- microtubule motor activity
- protein binding
- ATP binding
- microtubule binding
- ATPase activity
Cellular Component
- chromosome, centromeric region
- kinetochore
- condensed chromosome kinetochore
- nucleus
- centrosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000372224
- Coding exons
- 21
- Length
- 27950
- Individuals with no LoFs
- 125307
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 441
- Defined
- 125748
- p
- 0.00176
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.39 | 335 | 415 | 0.807 | 0.0000231 | 4789 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0033 | 0.0030 | notable |
| Latino/Admixed American | 0.0031 | 0.0030 | notable |
| Ashkenazi Jewish | 0.00071 | 0.00069 | rare |
| East Asian | 0.0021 | 0.0021 | notable |
| Finnish | 0.0033 | 0.0031 | notable |
| European (Non-Finnish) | 0.0015 | 0.0014 | notable |
| South Asian | 0.00026 | 0.00026 | rare |
| Other | 0.0010 | 0.00098 | notable |
dbNSFP Gene Annotations
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}.;
Recessive Scores
- pRec
- 0.148
Intolerance Scores
- LoFtool
- 0.665
- RVIS EVS
- 0.27
- RVIS percentile EVS
- 70.64
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- E
- Essential (gene trap)
- H
- Indispensability pred.
- E
- Indispensability score
- 0.924
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |