GeneBe

KIF17

protein-coding

kinesin family member 17, 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 anterograde dendritic transport of neurotransmitter receptor complex. Predicted to act upstream of or within microtubule-based process; protein-containing complex localization; and vesicle-mediated transport. Predicted to be located in cytosol. Predicted to be part of kinesin complex. Predicted to be active in several cellular components, including cilium; microtubule cytoskeleton; and neuron projection. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001122819.3

Inheritance

AR

ClinVar variants

U:191B:19

Top phenotype

KIF17-related disorder

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr1:20,664,014-20,718,017

External References & Databases

Ensembl (ENSG00000117245)NCBI Gene (57576)OMIM (605037)HGNC:19167GenCCUniProt (Q9P2E2)AlphaFoldClinVar (KIF17)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~54.0 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

microphthalmia, isolated, with colobomaLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0000170

Submitter: PanelApp Australia

schizophreniaNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0005090

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KIF17 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 187
not providedTotal: 13
KIF17-related disorderTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001122819.3. 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
2
clinvar
4
clinvar
3
clinvar
 9
missense
184
clinvar
12
clinvar
 196
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
4
clinvar
 4
Total00191163210
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001122819.3RefSeqNP_001116291.115MANE Select
ENST00000400463.8EnsemblENSP00000383311.315MANE Select
NM_001287212.2RefSeqNP_001274141.114Standard
NM_020816.4RefSeqNP_065867.215Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
kif17Danio rerio

Structure: retinal rod cell

Quality: cellular quality

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • regulation of spermatogenesis by crem
  • Intraflagellar transport
  • Cilium Assembly
  • Organelle biogenesis and maintenance

Biological Process

  • microtubule-based movement
  • vesicle-mediated transport
  • cell projection organization
  • intraciliary transport involved in cilium assembly
  • anterograde dendritic transport of neurotransmitter receptor complex

Molecular Function

  • microtubule motor activity
  • ATP binding
  • microtubule binding
  • ATP-dependent microtubule motor activity, plus-end-directed
  • ATPase activity

Cellular Component

  • cytosol
  • kinesin complex
  • microtubule
  • cilium
  • axoneme

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000247986
Coding exons
15
Length
54004
Individuals with no LoFs
125306
Homozygous LoFs
4
Heterozygous LoFs
438
Defined
125748
p
0.00176
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.2866026220.9680.00004316632
Missense (PolyPhen)215227.510.945032300
Synonymous-0.2672872811.020.00002072088
Loss of Function1.283240.80.7840.00000188487

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000440.00043rare
Latino/Admixed American0.00110.0011notable
Ashkenazi Jewish0.000600.00060rare
East Asian0.00340.0034notable
Finnish00.0absent
European (Non-Finnish)0.000370.00036rare
South Asian0.00940.0093notable
Other0.000980.00098rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules. {ECO:0000250}.;

Intolerance Scores

LoFtool
0.854
RVIS EVS
0.84
RVIS percentile EVS
88.31

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.766

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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