KIF25

protein-coding

kinesin family member 25, the group of Kinesins

Gene summary

The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. [provided by RefSeq, Jul 2008]

Previous symbols:

KNSL3

MANE transcript

NM_030615.4

Inheritance

—

ClinVar variants

U:71B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr6:167,996,241-168,045,091

External References & Databases

Ensembl (ENSG00000125337)

Transcript & Mutation Effects

hg38 • Region Span ~48.9 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 KIF25 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 72

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_030615.4. 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	3 clinvar		5
missense			69 clinvar	2 clinvar	2 clinvar	73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	5	2	78

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_030615.4	RefSeq	NP_085118.2	8	MANE Select
ENST00000643607.3	Ensembl	ENSP00000496229.1	8	MANE Select
NM_005355.5	RefSeq	NP_005346.3	7	Standard
ENST00000443060.6	Ensembl	ENSP00000388878.2	8	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

mitotic sister chromatid segregation
organelle organization
microtubule-based movement
negative regulation of autophagy
negative regulation of mitotic centrosome separation

Molecular Function

microtubule motor activity
ATP binding
microtubule binding
ATP-dependent microtubule motor activity, minus-end-directed
ATPase activity

Cellular Component

cytoplasm
centrosome
kinesin complex
microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000443060
Coding exons: 8
Length: 48849
Individuals with no LoFs: 125568
Homozygous LoFs: 3
Heterozygous LoFs: 177
Defined: 125748
p: 0.000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.573	216	241	0.896	0.0000151	2418
Missense (PolyPhen)		78	82.416	0.94641		913
Synonymous	0.107	104	105	0.987	0.00000732	823
Loss of Function	0.876	11	14.6	0.753	6.87e-7	171

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0017	notable
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.0043	0.0041	notable
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Minus-end microtubule-dependent motor protein (By similarity). Acts as a negative regulator of centrosome separation required to prevent premature centrosome separation during interphase (PubMed:28263957). Required to maintain a centered nucleus to ensure that the spindle is stably oriented at the onset of mitosis (PubMed:28263957). May also act as a negative regulator of amino acid starvation-induced autophagy (PubMed:22354037). {ECO:0000250|UniProtKB:Q4R918, ECO:0000269|PubMed:22354037, ECO:0000269|PubMed:28263957}.;

Recessive Scores

pRec: 0.0878

Intolerance Scores

LoFtool: 0.843
RVIS EVS: 1.94
RVIS percentile EVS: 97.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00224

Gene Damage Prediction

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