KIF27

protein-coding

kinesin family member 27, the group of Kinesins

Gene summary

This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]

MANE transcript

NM_017576.4

Inheritance

—

ClinVar variants

U:196B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr9:83,834,099-83,921,465

External References & Databases

Ensembl (ENSG00000165115)

Transcript & Mutation Effects

hg38 • Region Span ~87.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KIF27 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 193

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017576.4. 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	1 clinvar	3 clinvar	6
missense			191 clinvar	10 clinvar		201
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	196	11	3	210

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 54 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017576.4	RefSeq	NP_060046.1	17	MANE Select
ENST00000297814.7	Ensembl	ENSP00000297814.2	17	MANE Select
NM_001271927.3	RefSeq	NP_001258856.1	16	Standard
NM_001271928.3	RefSeq	NP_001258857.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

epithelial cilium movement
microtubule-based movement
ventricular system development
cilium assembly

Molecular Function

microtubule motor activity
ATP binding
microtubule binding
ATPase activity

Cellular Component

cytoplasm
kinesin complex
microtubule
cilium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000297814
Coding exons: 17
Length: 84730
Individuals with no LoFs: 125459
Homozygous LoFs: 1
Heterozygous LoFs: 288
Defined: 125748
p: 0.00115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.529	672	712	0.944	0.0000366	9224
Missense (PolyPhen)		199	200.18	0.99412		2638
Synonymous	0.136	250	253	0.989	0.0000121	2584
Loss of Function	2.27	48	68.2	0.704	0.00000386	848

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0017	notable
Latino/Admixed American	0.00040	0.00038	rare
Ashkenazi Jewish	0.0019	0.0015	notable
East Asian	0.0016	0.0016	notable
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00086	0.00085	rare
South Asian	0.0033	0.0031	notable
Other	0.0017	0.0016	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays an essential role in motile ciliogenesis. {ECO:0000250}.;

Recessive Scores

pRec: 0.0886

Intolerance Scores

LoFtool: 0.978
RVIS EVS: 0.26
RVIS percentile EVS: 69.72

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0626

Gene Damage Prediction

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