KIF4B

kinesin family member 4B, the group of Kinesins

Basic information

Region (hg38): 5:155013755-155018141

Links

ENSG00000226650 ∙ NCBI:285643 ∙ OMIM:609184 ∙ HGNC:6322 ∙ Uniprot:Q2VIQ3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF4B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF4B 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				7	2	9
missense			62	4	11	77
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	62	11	13

Variants in KIF4B

This is a list of pathogenic ClinVar variants found in the KIF4B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-155013912-C-T		not specified	Uncertain significance (Oct 20, 2023)
5-155014083-G-T		not specified	Uncertain significance (Jul 20, 2021)
5-155014116-C-A		not specified	Uncertain significance (Nov 14, 2023)
5-155014236-T-C		not specified	Uncertain significance (May 01, 2024)
5-155014329-A-G		not specified	Uncertain significance (Jul 05, 2023)
5-155014334-G-C		not specified	Uncertain significance (Mar 16, 2024)
5-155014404-T-C		KIF4B-related disorder	Uncertain significance (Jan 22, 2023)
5-155014457-G-A		KIF4B-related disorder	Benign (Dec 20, 2019)
5-155014466-A-G		not specified	Uncertain significance (Sep 27, 2021)
5-155014491-G-A		not specified	Uncertain significance (Jan 10, 2022)
5-155014517-A-G		KIF4B-related disorder	Benign (Oct 28, 2019)
5-155014556-C-T		not specified	Uncertain significance (Jan 23, 2024)
5-155014575-T-C		not specified	Uncertain significance (Mar 21, 2022)
5-155014620-G-A		not specified	Uncertain significance (Jan 31, 2024)
5-155014626-G-C		not specified	Uncertain significance (Jan 23, 2024)
5-155014704-A-G		not specified	Uncertain significance (Aug 15, 2023)
5-155014760-C-G		not specified	Uncertain significance (Sep 16, 2022)
5-155014791-C-A		not specified	Uncertain significance (Jan 24, 2023)
5-155014841-C-T		not specified	Uncertain significance (Apr 20, 2023)
5-155014842-G-A		not specified	Uncertain significance (Nov 22, 2023)
5-155014866-T-C		not specified	Uncertain significance (Jan 23, 2024)
5-155015011-T-C		KIF4B-related disorder	Likely benign (Jul 12, 2019)
5-155015017-A-G		KIF4B-related disorder	Benign (Apr 29, 2019)
5-155015043-T-C		not specified	Uncertain significance (May 23, 2024)
5-155015153-G-A		not specified	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF4B	protein_coding	protein_coding	ENST00000435029	1	4426

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.63e-25	0.000598	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.625	656	613	1.07	0.0000338	8179
Missense in Polyphen		162	161.53	1.0029		2221
Synonymous	0.113	233	235	0.991	0.0000127	2353
Loss of Function	0.168	38	39.1	0.971	0.00000247	495

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity). {ECO:0000250}.
• Pathway: Developmental Biology;Recycling pathway of L1;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;L1CAM interactions;Axon guidance;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.765
• rvis_EVS: 1.14
• rvis_percentile_EVS: 92.37

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.116

Gene Damage Prediction

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

Gene ontology

• Biological process: mitotic cytokinesis;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;microtubule-based movement;mitotic spindle organization;antigen processing and presentation of exogenous peptide antigen via MHC class II;mitotic spindle midzone assembly
• Cellular component: nucleoplasm;cytosol;kinesin complex;microtubule;nuclear matrix;intercellular bridge
• Molecular function: DNA binding;microtubule motor activity;ATP binding;microtubule binding;ATPase activity