KIF26B

protein-coding

kinesin family member 26B, the group of Kinesins

Gene summary

The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017]

MANE transcript

NM_018012.4

Inheritance

ClinVar variants

P:2U:361B:96

Top phenotype

KIF26B-related disorder

gnomAD constraint

pLI —, LoF o/e 0.11

Max pathogenic AF

—

Genomic locus

chr1:245,154,985-245,709,432

External References & Databases

Ensembl (ENSG00000162849)

Transcript & Mutation Effects

hg38 • Region Span ~554.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

multiple congenital anomalies/dysmorphic syndromeLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0019042

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KIF26B variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 360

KIF26B-related disorderTotal: 70

not providedTotal: 48

Autosomal dominant cerebellar ataxiaTotal: 4

PreeclampsiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018012.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	39 clinvar	15 clinvar	56
missense		1 clinvar	351 clinvar	31 clinvar	11 clinvar	394
nonsense			2 clinvar			2
start loss						0
frameshift	1 clinvar		1 clinvar			2
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	1	1	361	70	26	459

Highest pathogenic variant AF is 0.00006971235

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018012.4	RefSeq	NP_060482.2	15	MANE Select
ENST00000407071.7	Ensembl	ENSP00000385545.2	15	MANE Select
ENST00000366518.4	Ensembl	ENSP00000355475.4	12	Standard
ENST00000366518.5	Ensembl	ENSP00000355475.4	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Kinesins
Factors involved in megakaryocyte development and platelet production
Hemostasis

Biological Process

microtubule-based movement
positive regulation of cell-cell adhesion
establishment of cell polarity
ureteric bud invasion

Molecular Function

microtubule motor activity
ATP binding
microtubule binding
ATPase activity

Cellular Component

cytoplasm
kinesin complex
microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000407071
Coding exons: 15
Length: 554447
Individuals with no LoFs: 124644
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 124663
p: 0.0000762

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.947	1150	1.24e+3	0.924	0.0000835	13522
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000064	rare
Latino/Admixed American	0.000059	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000094	0.000093	rare
European (Non-Finnish)	0.00011	0.000088	rare
South Asian	0	0.0	absent
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

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}.;

Intolerance Scores

LoFtool: 0.0724
RVIS EVS: -0.59
RVIS percentile EVS: 18.26

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.702

Gene Damage Prediction

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