KIF15

kinesin family member 15, the group of Kinesins

Basic information

Region (hg38): 3:44761720-44873376

Previous symbols: [ "KNSL7" ]

Links

ENSG00000163808 ∙ NCBI:56992 ∙ OMIM:617569 ∙ HGNC:17273 ∙ Uniprot:Q9NS87 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• braddock-carey syndrome 2 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Braddock-Carey syndrome 2	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic; Craniofacial; Hematologic; Musculoskeletal; Neurologic; Ophthalmologic	28150392

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF15 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	4	8
missense			54	4	7	65
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region					3	3
non coding						0
Total	0	1	55	8	11

Variants in KIF15

This is a list of pathogenic ClinVar variants found in the KIF15 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-44761876-G-A		not specified	Uncertain significance (May 02, 2024)
3-44774411-G-A			Likely benign (Feb 01, 2023)
3-44775254-T-G		not specified	Uncertain significance (May 03, 2023)
3-44775266-T-A		not specified	Uncertain significance (Jun 21, 2023)
3-44775285-C-T		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44775286-G-A		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44775355-C-T		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44775361-C-T		not specified	Uncertain significance (Apr 28, 2022)
3-44775403-C-T		not specified	Likely benign (Dec 18, 2023)
3-44778112-TAGG-T		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44778126-C-T		not specified	Likely benign (Jan 09, 2024)
3-44778160-A-G		not specified	Uncertain significance (Jul 19, 2022)
3-44780916-A-G		not specified	Uncertain significance (Jul 26, 2021)
3-44784844-G-A		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44784892-C-T		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44784896-G-A		not specified	Uncertain significance (Feb 06, 2024)
3-44786420-G-C			Likely benign (May 24, 2018)
3-44786471-ACT-A		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44786530-G-A		not specified	Uncertain significance (Mar 05, 2024)
3-44786567-C-T			Likely benign (Dec 31, 2019)
3-44794237-G-T			Uncertain significance (Jul 18, 2020)
3-44794245-G-A		not specified	Uncertain significance (Apr 09, 2024)
3-44794250-G-A		Pulmonary fibrosis	Likely risk allele (Jun 09, 2022)
3-44794262-A-G		not specified	Uncertain significance (May 01, 2022)
3-44794292-G-A		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF15	protein_coding	protein_coding	ENST00000326047	35	111660

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.52e-25	0.995	125525	0	223	125748	0.000887

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	567	682	0.831	0.0000346	9182
Missense in Polyphen		203	276.27	0.7348		3544
Synonymous	1.53	216	247	0.876	0.0000126	2453
Loss of Function	3.15	52	83.0	0.627	0.00000432	1056

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00141	0.00140
Ashkenazi Jewish	0.00	0.00
East Asian	0.000602	0.000598
Finnish	0.00278	0.00278
European (Non-Finnish)	0.000963	0.000932
Middle Eastern	0.000602	0.000598
South Asian	0.000379	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly. {ECO:0000250}.
• Pathway: Gastric Cancer Network 1;Vesicle-mediated transport;role of ran in mitotic spindle regulation;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.0948

Intolerance Scores

• loftool: 0.936
• rvis_EVS: 1.83
• rvis_percentile_EVS: 97.05

Haploinsufficiency Scores

• pHI: 0.374
• hipred: Y
• hipred_score: 0.590
• ghis: 0.568

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.694

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Kif15

Zebrafish Information Network

• Gene name: kif15
• Affected structure: neuron
• Phenotype tag: abnormal
• Phenotype quality: decreased branchiness

Gene ontology

• 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
• Cellular component: centrosome;spindle;cytosol;kinesin complex;plus-end kinesin complex;microtubule;membrane
• Molecular function: DNA binding;motor activity;microtubule motor activity;protein binding;ATP binding;microtubule binding;ATPase activity