KIF23
protein-codingkinesin family member 23, the group of Kinesins
Gene summary
The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
- KNSL5
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~34.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0007109
Submitter: Orphanet
Inheritance Pattern: AD
Disease ID:MONDO:0007109
Submitter: Ambry Genetics
Inheritance Pattern: AD
Disease ID:MONDO:0007109
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Hematologic; Oncologic
Intervention: Hematologic; Oncologic
Rationale: The condition can involve clinically significant anemia, and awareness may allow prompt diagnosis and management; Myeloma has been described in some individuals, and awareness may allow prompt diagnosis and management
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KIF23 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001367805.3. 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 | 4 | 81 | 2 | 87 | ||
| missense | 3 | 218 | 21 | 242 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | 2 | |||
| splice donor/acceptor (+/-2bp) | 7 | 7 | ||||
| Total | 1 | 3 | 230 | 102 | 2 | 338 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001354734.1 | 24 | MANE Select | |
| Ensembl | ENSP00000504770.1 | 24 | MANE Select | |
| RefSeq | NP_001268230.1 | 19 | Standard | |
| RefSeq | NP_001354733.1 | 21 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| kif23 | Danio rerio | Structure: trunk Quality: necrotic abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- MicroRNAs in cancer - Homo sapiens (human)
- Vesicle-mediated transport
- Membrane Trafficking
- Kinesins
- Factors involved in megakaryocyte development and platelet production
Biological Process
- mitotic spindle elongation
- mitotic cytokinesis
- actomyosin contractile ring assembly
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
- microtubule-based movement
Molecular Function
- microtubule motor activity
- protein binding
- ATP binding
- microtubule binding
- ATPase activity
Cellular Component
- nucleus
- nucleoplasm
- centrosome
- spindle
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000260363
- Coding exons
- 23
- Length
- 34180
- Individuals with no LoFs
- 125737
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 9
- Defined
- 125746
- p
- 0.0000358
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.08 | 394 | 529 | 0.745 | 0.0000287 | 6307 |
| Missense (PolyPhen) | 76 | 168.36 | 0.45141 | 1953 | ||
| Synonymous | 1.26 | 154 | 175 | 0.879 | 0.00000910 | 1755 |
| Loss of Function | 6.88 | 4 | 62.8 | 0.0637 | 0.00000408 | 683 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.000053 | 0.000053 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signaling. Required for the localization of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro. {ECO:0000269|PubMed:16103226, ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:22522702}.;
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- LoFtool
- 0.492
- RVIS EVS
- -0.11
- RVIS percentile EVS
- 45.57
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.621
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |