KIF26B

kinesin family member 26B, the group of Kinesins

Basic information

Region (hg38): 1:245154985-245709432

Links

ENSG00000162849

∙ NCBI:55083 ∙ OMIM:614026 ∙ HGNC:25484 ∙ Uniprot:Q2KJY2 ∙ 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 KIF26B gene.

not_specified (320 variants)
KIF26B-related_disorder (69 variants)
not_provided (44 variants)
Autosomal_dominant_cerebellar_ataxia (4 variants)
Preeclampsia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF26B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018012.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				39 clinvar	15 clinvar	54
missense		1 clinvar	304 clinvar	31 clinvar	11 clinvar	347
nonsense						0
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)						0
Total	1	1	304	70	26

Highest pathogenic variant AF is 0.0000697123

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF26B	protein_coding	protein_coding	ENST00000407071	15	554447

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000138	124644	0	19	124663	0.0000762

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.947	1150	1.24e+3	0.924	0.0000835	13522
Missense in Polyphen		3	3.7969	0.79013		35
Synonymous	-1.78	629	575	1.09	0.0000436	4333
Loss of Function	6.50	7	62.3	0.112	0.00000303	751

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000124
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.0000941	0.0000928
European (Non-Finnish)	0.000106	0.0000885
Middle Eastern	0.000111	0.000111
South Asian	0.00	0.00
Other	0.000346	0.000330

dbNSFP

Source: dbNSFP

Function: FUNCTION: Essential for embryonic kidney development. Plays an important role in the compact adhesion between mesenchymal cells adjacent to the ureteric buds, possibly by interacting with MYH10. This could lead to the establishment of the basolateral integrity of the mesenchyme and the polarized expression of ITGA8, which maintains the GDNF expression required for further ureteric bud attraction. Although it seems to lack ATPase activity it is constitutively associated with microtubules (By similarity). {ECO:0000250}.;
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)

Intolerance Scores

loftool: 0.0724
rvis_EVS: -0.59
rvis_percentile_EVS: 18.26

Haploinsufficiency Scores

pHI: 0.408
hipred: Y
hipred_score: 0.728
ghis: 0.489

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.702

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Kif26b
Phenotype: renal/urinary system phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: microtubule-based movement;positive regulation of cell-cell adhesion;establishment of cell polarity;ureteric bud invasion
Cellular component: cytoplasm;kinesin complex;microtubule
Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity