KIF20A

kinesin family member 20A, the group of Kinesins

Basic information

Region (hg38): 5:138178719-138187723

Previous symbols: [ "RAB6KIFL" ]

Links

ENSG00000112984

∙ NCBI:10112 ∙ OMIM:605664 ∙ HGNC:9787 ∙ Uniprot:O95235 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

familial isolated restrictive cardiomyopathy (Supportive), mode of inheritance: AD
cardiomyopathy, familial restrictive, 6 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, familial restrictive, 6	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	Cardiovascular	29357359

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF20A gene.

not_provided (459 variants)
not_specified (98 variants)
Cardiomyopathy,_familial_restrictive,_6 (4 variants)
KIF20A-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF20A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005733.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			6 clinvar	82 clinvar	7 clinvar	95
missense			265 clinvar	8 clinvar	3 clinvar	276
nonsense		1 clinvar	10 clinvar			11
start loss			1			1
frameshift	1 clinvar		4 clinvar			5
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	1	1	293	90	10

Highest pathogenic variant AF is 0.00000371738

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF20A	protein_coding	protein_coding	ENST00000394894	18	8997

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.53e-13	0.999	125676	0	72	125748	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	414	494	0.837	0.0000276	5812
Missense in Polyphen		155	183.45	0.84492		2051
Synonymous	0.121	181	183	0.989	0.00000876	1745
Loss of Function	3.10	29	53.4	0.543	0.00000303	562

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000561	0.000561
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000490	0.000489
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000265	0.000264
Middle Eastern	0.000490	0.000489
South Asian	0.000328	0.000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility. {ECO:0000269|PubMed:12939256}.;
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;Mitotic Telophase/Cytokinesis;M Phase;Cell Cycle;Cell Cycle, Mitotic;Aurora B signaling;PLK1 signaling events;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

pRec: 0.108

Intolerance Scores

loftool: 0.892
rvis_EVS: -0.8
rvis_percentile_EVS: 12.53

Haploinsufficiency Scores

pHI: 0.433
hipred: Y
hipred_score: 0.678
ghis: 0.689

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap: H
gene_indispensability_pred: N
gene_indispensability_score: 0.459

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Kif20a
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); hematopoietic system phenotype; vision/eye phenotype;

Zebrafish Information Network

Gene name: kif20a
Affected structure: trunk
Phenotype tag: abnormal
Phenotype quality: decreased length

Gene ontology

Biological process: mitotic cytokinesis;microtubule bundle formation;microtubule-based movement;protein transport;vesicle-mediated transport;regulation of cytokinesis;midbody abscission
Cellular component: nucleus;nucleoplasm;Golgi apparatus;spindle;kinesin complex;microtubule;midbody;cleavage furrow;intercellular bridge
Molecular function: microtubule motor activity;transporter activity;protein binding;ATP binding;microtubule binding;ATPase activity;protein kinase binding