KIFC3
protein-codingkinesin family member C3, the group of Kinesins|MicroRNA protein coding host genes
Gene summary
This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~104.8 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 KIFC3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001130100.2. 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 | 119 | 1 | 120 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 9 | 9 | ||||
| Total | 0 | 0 | 130 | 1 | 1 | 132 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001123572.1 | 18 | MANE Select | |
| Ensembl | ENSP00000401696.2 | 18 | MANE Select | |
| RefSeq | NP_001123571.1 | 15 | Standard | |
| RefSeq | NP_001305639.1 | 19 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Ectoderm Differentiation
- Metabolism of proteins
- Chaperonin-mediated protein folding
- Association of TriC/CCT with target proteins during biosynthesis
- Protein folding
Biological Process
- microtubule-based movement
- Golgi organization
- visual perception
- zonula adherens maintenance
- epithelial cell-cell adhesion
Molecular Function
- microtubule motor activity
- protein binding
- ATP binding
- microtubule binding
- ATP-dependent microtubule motor activity, minus-end-directed
Cellular Component
- Golgi apparatus
- centrosome
- kinesin complex
- microtubule
- zonula adherens
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000379655
- Coding exons
- 18
- Length
- 104829
- Individuals with no LoFs
- 125672
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 69
- Defined
- 125741
- p
- 0.000274
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.99 | 399 | 528 | 0.756 | 0.0000368 | 5293 |
| Missense (PolyPhen) | 109 | 173.46 | 0.62838 | 1696 | ||
| Synonymous | 0.883 | 210 | 227 | 0.925 | 0.0000157 | 1725 |
| Loss of Function | 4.42 | 13 | 45.0 | 0.289 | 0.00000269 | 455 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000064 | 0.000062 | rare |
| Latino/Admixed American | 0.00030 | 0.00029 | rare |
| Ashkenazi Jewish | 0.0028 | 0.0028 | notable |
| East Asian | 0.000057 | 0.000054 | rare |
| Finnish | 0.000094 | 0.000092 | rare |
| European (Non-Finnish) | 0.00020 | 0.00019 | rare |
| South Asian | 0.000098 | 0.000098 | rare |
| Other | 0.00034 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Minus-end microtubule-dependent motor protein. Involved in apically targeted transport (By similarity). Required for zonula adherens maintenance. {ECO:0000250, ECO:0000269|PubMed:19041755}.;
Recessive Scores
- pRec
- 0.0988
Intolerance Scores
- LoFtool
- 0.577
- RVIS EVS
- -1.82
- RVIS percentile EVS
- 2.16
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.535
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |