KIF23

kinesin family member 23, the group of Kinesins

Basic information

Region (hg38): 15:69414246-69448427

Previous symbols: [ "KNSL5" ]

Links

ENSG00000137807 ∙ NCBI:9493 ∙ OMIM:605064 ∙ HGNC:6392 ∙ Uniprot:Q02241 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital dyserythropoietic anemia type 3 (Supportive), mode of inheritance: AD
• congenital dyserythropoietic anemia type 3 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Anemia, congenital dyserythropoietic, type IIIA	AD	Hematologic; Oncologic	The condition can involve clinically significant anemia, and awareness may allow prompt diagnosis and management; Myeloma has been described in some individuals, and awareness may allow prompt diagnosis and management	Hematologic; Oncologic	23570799; 33159567

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF23 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF23 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				36	8	44
missense		1	110	7	4	122
nonsense						0
start loss						0
frameshift						0
inframe indel			3			3
splice donor/acceptor (+/-2bp)			1			1
splice region			7	5	3	15
non coding			3	20	16	39
Total	0	1	117	63	28

Variants in KIF23

This is a list of pathogenic ClinVar variants found in the KIF23 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-69414437-C-T			Uncertain significance (Nov 10, 2021)
15-69414484-C-A			Uncertain significance (Jun 22, 2022)
15-69414493-C-G			Likely benign (Apr 07, 2023)
15-69414535-T-TGGGGGCAGGCGTCTCCACTCA			Benign (Oct 07, 2019)
15-69415975-T-A			Likely benign (Nov 08, 2022)
15-69415979-T-C			Likely benign (Aug 17, 2022)
15-69415990-C-CCA			Uncertain significance (Jan 02, 2024)
15-69416009-C-T			Likely benign (Jul 06, 2018)
15-69416039-A-G			Likely benign (Jul 10, 2023)
15-69416041-C-T		KIF23-related disorder	Uncertain significance (Dec 30, 2023)
15-69416045-C-A			Uncertain significance (Nov 29, 2022)
15-69416045-C-T			Likely benign (Nov 01, 2022)
15-69416058-G-A			Uncertain significance (Apr 04, 2023)
15-69416069-G-A		KIF23-related disorder	Benign (Jan 29, 2024)
15-69417347-G-A			Benign (Jul 09, 2018)
15-69417385-A-G			Benign (Nov 07, 2023)
15-69417390-G-A		not specified	Uncertain significance (Jul 26, 2022)
15-69417390-G-T		not specified	Uncertain significance (Sep 26, 2023)
15-69417401-C-A		not specified	Conflicting classifications of pathogenicity (Dec 27, 2023)
15-69417409-C-A			Benign (Jan 31, 2024)
15-69417422-G-A		not specified	Uncertain significance (Dec 16, 2023)
15-69417435-A-T		not specified	Uncertain significance (May 29, 2024)
15-69417444-A-G		KIF23-related disorder	Benign/Likely benign (May 01, 2024)
15-69417453-C-T			Benign (Jan 29, 2024)
15-69417469-T-C		KIF23-related disorder	Likely benign (Nov 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF23	protein_coding	protein_coding	ENST00000260363	23	34180

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	8.16e-8	125737	0	9	125746	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.08	394	529	0.745	0.0000287	6307
Missense in Polyphen		76	168.36	0.45141		1953
Synonymous	1.26	154	175	0.879	0.00000910	1755
Loss of Function	6.88	4	62.8	0.0637	0.00000408	683

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000113	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000533	0.0000527
Middle Eastern	0.000113	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signaling. Required for the localization of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro. {ECO:0000269|PubMed:16103226, ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:22522702}.
• Pathway: MicroRNAs in cancer - Homo sapiens (human);Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Mitotic Telophase/Cytokinesis;M Phase;Cell Cycle;Cell Cycle, Mitotic;Aurora B signaling;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.492
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.57

Haploinsufficiency Scores

• pHI: 0.901
• hipred: Y
• hipred_score: 0.794
• ghis: 0.659

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.621

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif23

Zebrafish Information Network

• Gene name: kif23
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: necrotic

Gene ontology

• Biological process: mitotic spindle elongation;mitotic cytokinesis;actomyosin contractile ring assembly;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;microtubule-based movement;antigen processing and presentation of exogenous peptide antigen via MHC class II;positive regulation of cytokinesis;mitotic spindle midzone assembly;plus-end-directed vesicle transport along microtubule
• Cellular component: nucleus;nucleoplasm;centrosome;spindle;cytosol;kinesin complex;microtubule;focal adhesion;midbody;intercellular bridge;mitotic spindle;Flemming body;centralspindlin complex
• Molecular function: microtubule motor activity;protein binding;ATP binding;microtubule binding;ATPase activity