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

• not_specified (494 variants)
• not_provided (83 variants)
• Cortical_dysplasia,_complex,_with_other_brain_malformations_11 (16 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 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. These statistics are base on transcript: NM_000015656.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	28	2	32
missense	2	1	499	26		528
nonsense		1	2			3
start loss						0
frameshift	3	3	2			8
splice donor/acceptor (+/-2bp)			1			1
Total	5	5	506	54	2

Highest pathogenic variant AF is 0.0022230507

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
		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)

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

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