KIF2B

kinesin family member 2B, the group of Kinesins

Basic information

Region (hg38): 17:53822927-53825193

Links

ENSG00000141200 ∙ NCBI:84643 ∙ OMIM:615142 ∙ HGNC:29443 ∙ Uniprot:Q8N4N8 ∙ 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 KIF2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF2B 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						0
missense			58	1	2	61
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	58	1	2

Variants in KIF2B

This is a list of pathogenic ClinVar variants found in the KIF2B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-53823062-C-G		not specified	Uncertain significance (Jul 26, 2022)
17-53823073-T-C		not specified	Uncertain significance (Jul 06, 2021)
17-53823117-G-C		not specified	Uncertain significance (Aug 07, 2024)
17-53823128-T-C		not specified	Uncertain significance (May 31, 2023)
17-53823236-G-T		not specified	Uncertain significance (Nov 01, 2022)
17-53823277-G-A		not specified	Uncertain significance (Nov 29, 2024)
17-53823290-C-T		not specified	Uncertain significance (Mar 29, 2022)
17-53823344-C-G		not specified	Uncertain significance (Jan 22, 2024)
17-53823344-C-T		not specified	Uncertain significance (Dec 28, 2022)
17-53823361-C-G		not specified	Uncertain significance (May 17, 2023)
17-53823400-A-G		not specified	Uncertain significance (Jun 17, 2024)
17-53823418-G-T		not specified	Uncertain significance (Apr 11, 2023)
17-53823476-C-T		not specified	Uncertain significance (Jul 30, 2023)
17-53823481-C-T		not specified	Uncertain significance (Sep 16, 2021)
17-53823521-G-A		not specified	Uncertain significance (Aug 13, 2021)
17-53823535-C-A		not specified	Uncertain significance (May 05, 2023)
17-53823548-C-T		not specified	Uncertain significance (Dec 10, 2024)
17-53823556-G-T		not specified	Uncertain significance (Dec 31, 2023)
17-53823646-G-C		not specified	Uncertain significance (Apr 18, 2023)
17-53823659-C-T		not specified	Uncertain significance (Mar 21, 2024)
17-53823669-T-A		not specified	Uncertain significance (Apr 29, 2024)
17-53823671-G-T		not specified	Uncertain significance (Dec 14, 2021)
17-53823707-A-G		not specified	Uncertain significance (Aug 17, 2022)
17-53823793-G-A		not specified	Uncertain significance (Feb 26, 2024)
17-53823802-C-T			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF2B	protein_coding	protein_coding	ENST00000268919	1	2335

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.61e-10	0.114	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.715	422	383	1.10	0.0000224	4397
Missense in Polyphen		182	158.18	1.1506		1815
Synonymous	-0.852	171	157	1.09	0.00000964	1335
Loss of Function	0.353	16	17.6	0.909	9.25e-7	218

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: Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity (PubMed:17538014). Plays a role in chromosome congression (PubMed:23891108). {ECO:0000269|PubMed:17538014, ECO:0000269|PubMed:23891108}.
• Pathway: Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.0917

Intolerance Scores

• loftool: 0.901
• rvis_EVS: 1.94
• rvis_percentile_EVS: 97.52

Haploinsufficiency Scores

• pHI: 0.0917
• hipred: N
• hipred_score: 0.200

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0963

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif2b
• Phenotype: normal phenotype

Gene ontology

• Biological process: retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;microtubule-based movement;microtubule depolymerization;antigen processing and presentation of exogenous peptide antigen via MHC class II;cell division;metaphase plate congression;regulation of chromosome segregation
• Cellular component: condensed chromosome kinetochore;nucleus;nucleolus;centrosome;cytosol;kinesin complex;microtubule;microtubule cytoskeleton;intercellular bridge;mitotic spindle
• Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity