KIF20B
protein-codingkinesin family member 20B, the group of Kinesins
Gene summary
Enables several functions, including ATP hydrolysis activity; WW domain binding activity; and plus-end-directed microtubule motor activity. Involved in positive regulation of cell population proliferation and positive regulation of cytokinesis. Located in several cellular components, including microtubule cytoskeleton; midbody; and nuclear lumen. [provided by Alliance of Genome Resources, Jul 2025]
- MPHOSPH1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~73.3 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 KIF20B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001284259.2. 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 | 4 | 2 | 6 | |||
| missense | 258 | 22 | 1 | 281 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 6 | 6 | ||||
| Total | 0 | 0 | 266 | 26 | 3 | 295 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001271188.1 | 32 | MANE Select | |
| Ensembl | ENSP00000360793.3 | 32 | MANE Select | |
| RefSeq | NP_001369435.1 | 31 | Standard | |
| RefSeq | NP_057279.2 | 32 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Gastric Cancer Network 1
- Vesicle-mediated transport
- Membrane Trafficking
- Kinesins
- Factors involved in megakaryocyte development and platelet production
Biological Process
- neural tube closure
- microtubule-based movement
- cell cycle arrest
- regulation of mitotic nuclear division
- positive regulation of cell population proliferation
Molecular Function
- microtubule motor activity
- protein binding
- ATP binding
- microtubule binding
- ATP-dependent microtubule motor activity, plus-end-directed
Cellular Component
- nucleus
- nucleoplasm
- nucleolus
- cytoplasm
- centrosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000260753
- Coding exons
- 32
- Length
- 73334
- Individuals with no LoFs
- 125495
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 250
- Defined
- 125745
- p
- 0.000995
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.603 | 893 | 844 | 1.06 | 0.0000420 | 11812 |
| Missense (PolyPhen) | 319 | 331.78 | 0.96148 | 4842 | ||
| Synonymous | -0.773 | 305 | 288 | 1.06 | 0.0000140 | 3058 |
| Loss of Function | 4.15 | 53 | 97.2 | 0.545 | 0.00000533 | 1294 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00072 | 0.00068 | rare |
| Latino/Admixed American | 0.00084 | 0.00075 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.00070 | 0.00065 | rare |
| Finnish | 0.0013 | 0.0012 | notable |
| European (Non-Finnish) | 0.0013 | 0.0013 | notable |
| South Asian | 0.00070 | 0.00065 | rare |
| Other | 0.0019 | 0.0016 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plus-end-directed motor enzyme that is required for completion of cytokinesis (PubMed:11470801, PubMed:12740395). Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth (By similarity). Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436). {ECO:0000250|UniProtKB:Q80WE4, ECO:0000269|PubMed:11470801, ECO:0000269|PubMed:12740395, ECO:0000269|PubMed:17409436}.;
Recessive Scores
- pRec
- 0.146
Intolerance Scores
- LoFtool
- 0.989
- RVIS EVS
- 1.96
- RVIS percentile EVS
- 97.56
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.162
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |