GeneBe

KIF15

protein-coding

kinesin family member 15, 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 centrosome separation; microtubule-based movement; and mitotic spindle assembly. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • KNSL7

MANE transcript

NM_020242.3

Inheritance

AR

ClinVar variants

P:3U:162B:29

Top phenotype

Braddock-Carey syndrome 2

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr3:44,761,721-44,873,376

External References & Databases

Ensembl (ENSG00000163808)NCBI Gene (56992)OMIM (617569)HGNC:17273GenCCUniProt (Q9NS87)AlphaFoldClinVar (KIF15)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~111.7 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

braddock-carey syndrome 2LIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0859570

Submitter: PanelApp Australia

braddock-carey syndrome 2LIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0859570

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Braddock-Carey syndrome 2AR

Manifestation: Audiologic/Otolaryngologic; Craniofacial; Hematologic; Musculoskeletal; Neurologic; Ophthalmologic

Intervention: Audiologic/Otolaryngologic

Rationale: Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development

Refs: 28150392Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KIF15 variants in ClinVar

4 Conditions Cataloged
not specifiedTotal: 152
not providedTotal: 31
Pulmonary fibrosisTotal: 11
Braddock-carey syndrome 2Total: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020242.3. 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.

EffectPLPVUSLBBSum
synonymous
8
clinvar
3
clinvar
 11
missense
149
clinvar
11
clinvar
7
clinvar
 167
nonsense
1
clinvar
1
clinvar
3
clinvar
 5
start loss
0
frameshift
3
clinvar
 3
splice donor/acceptor (+/-2bp)
1
clinvar
7
clinvar
 8
Total121621910194

Highest pathogenic variant AF is 0.000011197902

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_020242.3RefSeqNP_064627.135MANE Select
ENST00000326047.9EnsemblENSP00000324020.435MANE Select
ENST00000422209.1EnsemblENSP00000391205.16Standard
ENST00000425755.5EnsemblENSP00000389982.126Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
kif15Danio rerio

Structure: neuron

Quality: decreased branchiness

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Gastric Cancer Network 1
  • Vesicle-mediated transport
  • role of ran in mitotic spindle regulation
  • Membrane Trafficking
  • Kinesins

Biological Process

  • mitotic cell cycle
  • retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
  • microtubule-based movement
  • cell population proliferation
  • antigen processing and presentation of exogenous peptide antigen via MHC class II

Molecular Function

  • DNA binding
  • motor activity
  • microtubule motor activity
  • protein binding
  • ATP binding

Cellular Component

  • centrosome
  • spindle
  • cytosol
  • kinesin complex
  • plus-end kinesin complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000326047
Coding exons
35
Length
111660
Individuals with no LoFs
125525
Homozygous LoFs
0
Heterozygous LoFs
223
Defined
125748
p
0.000887
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.575676820.8310.00003469182
Missense (PolyPhen)203276.270.73483544
Synonymous1.532162470.8760.00001262453
Loss of Function3.155283.00.6270.000004321056

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000560.00055rare
Latino/Admixed American0.000850.00075rare
Ashkenazi Jewish00.0absent
East Asian0.000600.00060rare
Finnish0.00280.0028notable
European (Non-Finnish)0.000960.00093rare
South Asian0.000380.00036rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly. {ECO:0000250}.;

Recessive Scores

pRec
0.0948

Intolerance Scores

LoFtool
0.936
RVIS EVS
1.83
RVIS percentile EVS
97.05

Essentials

Essential (CRISPR)
E
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.694

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
Feedback | API | MCP | Annotate VCF | Sitemap | About | Privacy & Terms
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.