KIF11

kinesin family member 11, the group of Kinesins

Basic information

Region (hg38): 10:92574105-92655395

Previous symbols: [ "KNSL1" ]

Links

ENSG00000138160

∙ NCBI:3832 ∙ OMIM:148760 ∙ HGNC:6388 ∙ Uniprot:P52732 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (Definitive), mode of inheritance: AD
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (Strong), mode of inheritance: AD
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (Strong), mode of inheritance: AD
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (Supportive), mode of inheritance: AD
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (Definitive), mode of inheritance: AD
ciliopathy (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development	AD	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; Craniofacial; Neurologic; Ophthalmologic	15930898; 22653704; 22284827; 25115524

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF11 gene.

not provided (65 variants)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (29 variants)
Microcephaly and chorioretinopathy 1 (1 variants)
not specified (1 variants)
Retinitis pigmentosa (1 variants)
Microcephaly (1 variants)
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) (1 variants)
Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF11 gene is commonly pathogenic or not. These statistics are base on transcript: . 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3 clinvar	131 clinvar	11 clinvar	145
missense		4 clinvar	242 clinvar	31 clinvar	6 clinvar	283
nonsense	22 clinvar	10 clinvar	3 clinvar			35
start loss	3					3
frameshift	51 clinvar	19 clinvar	1 clinvar			71
splice donor/acceptor (+/-2bp)	10 clinvar	8 clinvar	1 clinvar			19
Total	86	41	250	162	17

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF11	protein_coding	protein_coding	ENST00000260731	22	62108

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.66e-7	125711	0	6	125717	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.27	310	520	0.596	0.0000257	6946
Missense in Polyphen		41	162.32	0.25258		1997
Synonymous	0.623	172	183	0.941	0.00000845	1980
Loss of Function	6.43	2	52.1	0.0384	0.00000268	697

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000128	0.0000992
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000281	0.0000264
Middle Eastern	0.000110	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769). {ECO:0000269|PubMed:19001501, ECO:0000269|PubMed:23857769}.;
Disease: DISEASE: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]: An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. {ECO:0000269|PubMed:22284827}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
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)

Recessive Scores

pRec: 0.134

Intolerance Scores

loftool: 0.0258
rvis_EVS: 0.07
rvis_percentile_EVS: 58.96

Haploinsufficiency Scores

pHI: 0.176
hipred: Y
hipred_score: 0.831
ghis: 0.612

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.784

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Kif11
Phenotype: embryo phenotype; reproductive system 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); growth/size/body region phenotype;

Zebrafish Information Network

Gene name: kif11
Affected structure: radial glial cell
Phenotype tag: abnormal
Phenotype quality: has fewer parts of type

Gene ontology

Biological process: mitotic cell cycle;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;microtubule-based movement;spindle organization;mitotic spindle organization;mitotic centrosome separation;antigen processing and presentation of exogenous peptide antigen via MHC class II;regulation of mitotic centrosome separation;cell division;mitotic spindle assembly
Cellular component: spindle pole;nucleus;spindle;cytosol;kinesin complex;microtubule;spindle microtubule;membrane;protein-containing complex;mitotic spindle
Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity;protein kinase binding