KIF21B

kinesin family member 21B, the group of Kinesins|WD repeat domain containing

Basic information

Region (hg38): 1:200969389-201023714

Links

ENSG00000116852 ∙ NCBI:23046 ∙ OMIM:608322 ∙ HGNC:29442 ∙ Uniprot:O75037 ∙ 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 KIF21B gene.

• not provided (68 variants)
• Inborn genetic diseases (40 variants)
• KIF21B-related condition (2 variants)
• KIF21B-related Neurodevelopmental disorder (2 variants)
• Neurodevelopmental disorder (2 variants)
• KIF21B-related disorders (1 variants)
• Hypotonia;Moderate global developmental delay;Cerebral ischemia;Pachygyria (1 variants)
• Long QT syndrome (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF21B 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				12	6	18
missense		1	81	1	1	84
nonsense			5			5
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	1	3	5
non coding					1	1
Total	0	1	87	13	8

Variants in KIF21B

This is a list of pathogenic ClinVar variants found in the KIF21B region.

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

Position	Type	Phenotype	Significance	ClinVar
1-200974114-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-200974124-T-C		not specified	Uncertain significance (May 17, 2023)
1-200974831-G-A		not specified	Uncertain significance (Dec 17, 2023)
1-200974864-G-A		not specified	Uncertain significance (Sep 06, 2022)
1-200974903-T-C		Neurodevelopmental disorder	Likely pathogenic (Jun 24, 2022)
1-200974916-G-C			Uncertain significance (Jan 27, 2023)
1-200974929-G-A			Benign (Jul 14, 2021)
1-200975549-G-A			Uncertain significance (Feb 26, 2023)
1-200975575-T-A			Uncertain significance (Jan 25, 2022)
1-200975592-G-C			Uncertain significance (Feb 27, 2023)
1-200975654-C-T		not specified	Uncertain significance (Jun 06, 2023)
1-200976808-C-T		not specified	Uncertain significance (Aug 10, 2021)
1-200976840-G-A		not specified	Uncertain significance (Feb 22, 2023)
1-200977234-C-T		KIF21B-related Neurodevelopmental disorder	Uncertain significance (Apr 01, 2021)
1-200977252-C-T		not specified	Uncertain significance (Dec 16, 2023)
1-200977306-C-T			Uncertain significance (Mar 11, 2022)
1-200979566-G-A		not specified	Uncertain significance (Nov 12, 2021)
1-200979585-G-A			Likely benign (Mar 28, 2018)
1-200979652-G-A		KIF21B-related disorder	Likely benign (Apr 18, 2022)
1-200979697-C-T			Uncertain significance (Nov 05, 2022)
1-200981016-G-T		not specified	Uncertain significance (Aug 12, 2021)
1-200981053-C-T			Uncertain significance (Dec 20, 2023)
1-200981067-T-C		not specified	Uncertain significance (May 09, 2023)
1-200984943-G-T			Uncertain significance (Mar 15, 2022)
1-200986864-G-A			Likely benign (Jul 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF21B	protein_coding	protein_coding	ENST00000422435	35	54309

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000177	1.00	125622	0	126	125748	0.000501

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.96	763	1.03e+3	0.741	0.0000697	10650
Missense in Polyphen		348	514	0.67705		5404
Synonymous	2.27	373	433	0.861	0.0000300	3269
Loss of Function	6.03	28	89.6	0.313	0.00000518	935

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00110	0.000977
Ashkenazi Jewish	0.000826	0.000794
East Asian	0.00125	0.00114
Finnish	0.000999	0.000832
European (Non-Finnish)	0.000525	0.000457
Middle Eastern	0.00125	0.00114
South Asian	0.000103	0.0000980
Other	0.000707	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma- aminobutyric acid (GABA(A)) receptor to cell surface. {ECO:0000250|UniProtKB:Q9QXL1}.
• Pathway: 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;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.522
• rvis_EVS: -2.91
• rvis_percentile_EVS: 0.58

Haploinsufficiency Scores

• pHI: 0.773
• hipred: Y
• hipred_score: 0.639
• ghis: 0.571

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.780

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif21b
• Phenotype: homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: microtubule-based movement
• Cellular component: kinesin complex;microtubule;dendrite;growth cone;cytoplasmic vesicle
• Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity