KIF20B

kinesin family member 20B, the group of Kinesins

Basic information

Region (hg38): 10:89701590-89774939

Previous symbols: [ "MPHOSPH1" ]

Links

ENSG00000138182

∙ NCBI:9585 ∙ OMIM:605498 ∙ HGNC:7212 ∙ Uniprot:Q96Q89 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF20B gene.

not_specified (239 variants)
not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF20B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001284259.2. 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				4 clinvar	2 clinvar	6
missense			222 clinvar	18 clinvar	1 clinvar	241
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	222	22	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF20B	protein_coding	protein_coding	ENST00000260753	32	73334

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.74e-23	1.00	125495	0	250	125745	0.000995

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.603	893	844	1.06	0.0000420	11812
Missense in Polyphen		319	331.78	0.96148		4842
Synonymous	-0.773	305	288	1.06	0.0000140	3058
Loss of Function	4.15	53	97.2	0.545	0.00000533	1294

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00156	0.00152
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.000695	0.000653
Finnish	0.00125	0.00125
European (Non-Finnish)	0.00130	0.00126
Middle Eastern	0.000695	0.000653
South Asian	0.000702	0.000653
Other	0.00194	0.00163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plus-end-directed motor enzyme that is required for completion of cytokinesis (PubMed:11470801, PubMed:12740395). Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth (By similarity). Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436). {ECO:0000250|UniProtKB:Q80WE4, ECO:0000269|PubMed:11470801, ECO:0000269|PubMed:12740395, ECO:0000269|PubMed:17409436}.;
Pathway: Gastric Cancer Network 1;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: 0.146

Intolerance Scores

loftool: 0.989
rvis_EVS: 1.96
rvis_percentile_EVS: 97.56

Haploinsufficiency Scores

pHI: 0.165
hipred: N
hipred_score: 0.458
ghis: 0.625

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.162

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Kif20b
Phenotype: limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye 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); cellular phenotype; craniofacial phenotype; growth/size/body region phenotype;

Gene ontology

Biological process: neural tube closure;microtubule-based movement;cell cycle arrest;regulation of mitotic nuclear division;positive regulation of cell population proliferation;positive regulation of cytokinesis;protein localization to microtubule;neuron projection morphogenesis;cell division;positive regulation of intracellular protein transport;positive regulation of mitotic cytokinetic process;regulation of establishment of cell polarity;positive regulation of neuron migration
Cellular component: nucleus;nucleoplasm;nucleolus;cytoplasm;centrosome;kinesin complex;microtubule;growth cone;midbody;perinuclear region of cytoplasm;spindle midzone;contractile ring;mitotic spindle pole;mitotic spindle midzone
Molecular function: microtubule motor activity;protein binding;ATP binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity;protein homodimerization activity;WW domain binding