KIF20A
protein-codingkinesin family member 20A, the group of Kinesins
Gene summary
Enables protein kinase binding activity. Involved in microtubule bundle formation; midbody abscission; and regulation of cytokinesis. Located in midbody and mitotic spindle. Implicated in familial restrictive cardiomyopathy 6. [provided by Alliance of Genome Resources, Jun 2026]
- RAB6KIFL
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: Unknown
Disease ID:MONDO:0030330
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0019150
Submitter: Orphanet
Inheritance Pattern: AR
Disease ID:MONDO:0005453
Submitter: ClinGen
*KIF20A* was first reported in relation to autosomal recessive congenital heart disease in 2018 (Louw JJ et al.; PMID: 29357359). The autosomal recessive inheritance pattern is supported by the unaffected carrier parents in PMID: 29357359 and by the absence of cardiovascular phenotypes in DECIPHER heterozygous cases. *KIF20A* encodes a microtubule-associated motor protein that has roles in cell division and intracellular transport (PMID: 10806357). One frameshift variant and one missense variant that have been reported in one family from one publication (PMID: 29357359) are included in this curation. The mechanism of pathogenicity appears to be loss of function. This gene-disease relationship is also supported by a zebrafish model that exhibits a cardiac phenotype which was partially rescued by the injection of wild-type *KIF20A* (PMID: 29357359). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing contradictory evidence has emerged. This classification was approved by the ClinGen Hereditary Cardiovascular Disease GCEP on the meeting date 06/27/2024 (SOP Version 10).
Inheritance Pattern: AR
Disease ID:MONDO:0030330
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Cardiovascular
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KIF20A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_005733.3. 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 | 6 | 96 | 6 | 108 | ||
| missense | 303 | 8 | 3 | 314 | ||
| nonsense | 1 | 11 | 12 | |||
| start loss | 1 | 1 | ||||
| frameshift | 1 | 4 | 5 | |||
| splice donor/acceptor (+/-2bp) | 12 | 12 | ||||
| Total | 1 | 1 | 337 | 104 | 9 | 452 |
Highest pathogenic variant AF is 0.00000371738
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_005724.1 | 18 | MANE Select | |
| Ensembl | ENSP00000378356.3 | 18 | MANE Select | |
| Ensembl | ENSP00000426704.1 | 3 | Standard | |
| Ensembl | ENSP00000424056.1 | 5 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| kif20a | Danio rerio | Structure: trunk Quality: decreased length abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vesicle-mediated transport
- Membrane Trafficking
- Kinesins
- Factors involved in megakaryocyte development and platelet production
- Hemostasis
Biological Process
- mitotic cytokinesis
- microtubule bundle formation
- microtubule-based movement
- protein transport
- vesicle-mediated transport
Molecular Function
- microtubule motor activity
- transporter activity
- protein binding
- ATP binding
- microtubule binding
Cellular Component
- nucleus
- nucleoplasm
- Golgi apparatus
- spindle
- kinesin complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000394894
- Coding exons
- 18
- Length
- 8997
- Individuals with no LoFs
- 125676
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 72
- Defined
- 125748
- p
- 0.000286
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.28 | 414 | 494 | 0.837 | 0.0000276 | 5812 |
| Missense (PolyPhen) | 155 | 183.45 | 0.84492 | 2051 | ||
| Synonymous | 0.121 | 181 | 183 | 0.989 | 0.00000876 | 1745 |
| Loss of Function | 3.10 | 29 | 53.4 | 0.543 | 0.00000303 | 562 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00018 | rare |
| Latino/Admixed American | 0.00038 | 0.00038 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.00049 | 0.00049 | rare |
| Finnish | 0.00023 | 0.00023 | rare |
| European (Non-Finnish) | 0.00026 | 0.00026 | rare |
| South Asian | 0.00033 | 0.00033 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility. {ECO:0000269|PubMed:12939256}.;
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- LoFtool
- 0.892
- RVIS EVS
- -0.8
- RVIS percentile EVS
- 12.53
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- S
- Essential (gene trap)
- H
- Indispensability pred.
- N
- Indispensability score
- 0.459
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |