KIF26A

kinesin family member 26A, the group of Kinesins

Basic information

Region (hg38): 14:104136454-104180894

Links

ENSG00000066735 ∙ NCBI:26153 ∙ OMIM:613231 ∙ HGNC:20226 ∙ Uniprot:Q9ULI4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• cortical dysplasia, complex, with other brain malformations 11 (Limited), mode of inheritance: AR
• cortical dysplasia, complex, with other brain malformations 11 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cortical dysplasia, complex, with other brain malformations 11	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Neurologic	36228617

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF26A gene.

• Cortical dysplasia, complex, with other brain malformations 11 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF26A 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				17	4	21
missense			225	7		232
nonsense		1				1
start loss						0
frameshift	2	1	1			4
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	1		3
Total	2	2	228	25	4

Highest pathogenic variant AF is 0.0000131

Variants in KIF26A

This is a list of pathogenic ClinVar variants found in the KIF26A region.

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

Position	Type	Phenotype	Significance	ClinVar
14-104138747-T-C		not specified	Uncertain significance (Jul 09, 2021)
14-104138747-T-G		not specified	Uncertain significance (Oct 28, 2024)
14-104139051-G-C		not specified	Uncertain significance (Jun 28, 2024)
14-104139060-G-A			Likely benign (Nov 01, 2022)
14-104139087-G-T		not specified	Uncertain significance (Dec 04, 2024)
14-104139094-C-G		not specified	Uncertain significance (Aug 17, 2021)
14-104139109-C-A		not specified	Uncertain significance (Oct 28, 2024)
14-104139113-C-T		not specified	Uncertain significance (Nov 12, 2021)
14-104139124-C-A		not specified	Uncertain significance (Sep 26, 2024)
14-104139136-G-A		not specified	Uncertain significance (Mar 16, 2022)
14-104139139-A-T		not specified	Uncertain significance (Dec 10, 2024)
14-104139181-G-A		not specified	Uncertain significance (Mar 15, 2024)
14-104139226-A-G		not specified	Uncertain significance (Mar 19, 2024)
14-104152039-C-T		not specified	Uncertain significance (Dec 07, 2021)
14-104152042-G-A		not specified	Uncertain significance (Jul 20, 2021)
14-104152078-C-T		not specified	Uncertain significance (Jun 09, 2022)
14-104152079-G-A		not specified	Uncertain significance (Sep 08, 2024)
14-104152081-C-T		not specified	Uncertain significance (Jul 06, 2021)
14-104152089-C-T			Likely benign (Aug 01, 2022)
14-104152096-C-T		not specified	Uncertain significance (Apr 10, 2023)
14-104152110-C-T			Likely benign (Feb 01, 2023)
14-104152111-G-T		not specified	Uncertain significance (Jan 18, 2023)
14-104152135-C-T		not specified	Uncertain significance (Jul 14, 2024)
14-104152136-G-A		not specified	Uncertain significance (Jul 14, 2021)
14-104152175-A-G			Uncertain significance (Oct 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF26A	protein_coding	protein_coding	ENST00000423312	15	42172

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000519	0.999	123958	0	21	123979	0.0000847

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0892	1119	1.13e+3	0.993	0.0000800	11571
Missense in Polyphen		305	359.73	0.84787		3736
Synonymous	-2.46	585	514	1.14	0.0000399	4265
Loss of Function	4.62	16	51.9	0.308	0.00000307	572

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000306	0.000279
Ashkenazi Jewish	0.00	0.00
East Asian	0.000180	0.000167
Finnish	0.000104	0.0000928
European (Non-Finnish)	0.0000741	0.0000625
Middle Eastern	0.000180	0.000167
South Asian	0.00	0.00
Other	0.000169	0.000166

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling. Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity (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)

Haploinsufficiency Scores

• pHI: 0.123
• hipred: Y
• hipred_score: 0.526
• ghis: 0.460

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.497

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif26a
• 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); 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); digestive/alimentary phenotype; growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: regulation of cell growth by extracellular stimulus;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;microtubule-based movement;negative regulation of signal transduction;antigen processing and presentation of exogenous peptide antigen via MHC class II;enteric nervous system development
• Cellular component: cytosol;kinesin complex;microtubule
• Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity