KIF19
protein-codingkinesin family member 19, the group of Kinesins
Gene summary
Predicted to enable ATP hydrolysis activity; microtubule binding activity; and plus-end-directed microtubule motor activity. Predicted to be involved in axonemal microtubule depolymerization; microtubule-based movement; and plus-end specific microtubule depolymerization. Predicted to be located in cilium. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~29.6 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 KIF19 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_153209.4. 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 | 25 | 1 | 26 | |||
| missense | 1 | 207 | 9 | 1 | 218 | |
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 1 | 0 | 210 | 34 | 2 | 247 |
Highest pathogenic variant AF is 0.00013715662
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_694941.2 | 20 | MANE Select | |
| Ensembl | ENSP00000374566.4 | 20 | MANE Select | |
| Ensembl | ENSP00000449134.1 | 13 | Standard | |
| Ensembl | ENSP00000564723.1 | 20 | Standard |
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
- microtubule-based movement
- axonemal microtubule depolymerization
- plus-end specific microtubule depolymerization
Molecular Function
- microtubule motor activity
- ATP binding
- microtubule binding
- ATP-dependent microtubule motor activity, plus-end-directed
- ATPase activity
Cellular Component
- kinesin complex
- microtubule
- cilium
- axoneme
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000389916
- Coding exons
- 20
- Length
- 29611
- Individuals with no LoFs
- 124467
- Homozygous LoFs
- 6
- Heterozygous LoFs
- 1120
- Defined
- 125593
- p
- 0.00449
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0143 | 619 | 620 | 0.998 | 0.0000396 | 6350 |
| Missense (PolyPhen) | 124 | 149.73 | 0.82817 | 1459 | ||
| Synonymous | 2.01 | 216 | 257 | 0.840 | 0.0000158 | 2039 |
| Loss of Function | 1.72 | 33 | 45.5 | 0.725 | 0.00000225 | 500 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0021 | 0.0020 | notable |
| Latino/Admixed American | 0.0039 | 0.0038 | notable |
| Ashkenazi Jewish | 0.0034 | 0.0033 | notable |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0.010 | 0.010 | notable |
| European (Non-Finnish) | 0.0054 | 0.0053 | notable |
| South Asian | 0.0024 | 0.0023 | notable |
| Other | 0.0065 | 0.0062 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips. {ECO:0000250}.;
Intolerance Scores
- LoFtool
- 0.915
- RVIS EVS
- 0.06
- RVIS percentile EVS
- 57.56
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0249
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | Medium | Medium |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |