KIF20B

kinesin family member 20B, the group of Kinesins

Basic information

Region (hg38): 10:89701590-89774939

Previous symbols: [ "MPHOSPH1" ]

Links

ENSG00000138182NCBI:9585OMIM:605498HGNC:7212Uniprot:Q96Q89AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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.

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
2
clinvar
2
clinvar
4
missense
87
clinvar
8
clinvar
2
clinvar
97
nonsense
0
start loss
0
frameshift
0
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 87 10 5

Variants in KIF20B

This is a list of pathogenic ClinVar variants found in the KIF20B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
10-89705375-A-T not specified Uncertain significance (Dec 08, 2023)3114619
10-89705389-G-A not specified Uncertain significance (Jan 08, 2024)3114622
10-89705410-A-G not specified Likely benign (Apr 12, 2022)3114599
10-89709191-T-C not specified Uncertain significance (Feb 13, 2023)2469166
10-89709198-A-C not specified Uncertain significance (Jul 12, 2023)2599947
10-89709936-C-T not specified Uncertain significance (Jul 30, 2023)2602100
10-89709940-C-T not specified Uncertain significance (Jul 31, 2023)2614973
10-89709949-A-G not specified Uncertain significance (Aug 21, 2023)2601454
10-89709972-A-G not specified Uncertain significance (Oct 05, 2021)2381849
10-89709975-A-G not specified Uncertain significance (Feb 23, 2023)2488586
10-89710011-C-T not specified Uncertain significance (Oct 25, 2023)3114616
10-89710029-G-A not specified Uncertain significance (Nov 30, 2021)2262754
10-89711012-A-G not specified Uncertain significance (Nov 23, 2024)3534151
10-89711035-A-G not specified Uncertain significance (Jun 13, 2023)2560033
10-89715036-A-G not specified Uncertain significance (Nov 10, 2024)3534148
10-89715068-T-G not specified Uncertain significance (Dec 17, 2023)3114621
10-89715081-A-G not specified Uncertain significance (Dec 02, 2024)3534136
10-89715117-C-G not specified Uncertain significance (Oct 01, 2024)3534140
10-89715168-A-G not specified Uncertain significance (Aug 20, 2024)3534128
10-89716477-A-G not specified Uncertain significance (Dec 21, 2023)3114623
10-89716508-G-A not specified Uncertain significance (Jun 28, 2023)2606869
10-89716510-G-A not specified Uncertain significance (Jul 27, 2023)2609317
10-89716538-C-G not specified Uncertain significance (May 23, 2024)3288498
10-89717580-T-A Benign (Jun 07, 2017)779146
10-89717697-G-A not specified Uncertain significance (Sep 27, 2022)2296892

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIF20Bprotein_codingprotein_codingENST00000260753 3273334
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.74e-231.0012549502501257450.000995
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6038938441.060.000042011812
Missense in Polyphen319331.780.961484842
Synonymous-0.7733052881.060.00001403058
Loss of Function4.155397.20.5450.000005331294

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001560.00152
Ashkenazi Jewish0.00009980.0000992
East Asian0.0006950.000653
Finnish0.001250.00125
European (Non-Finnish)0.001300.00126
Middle Eastern0.0006950.000653
South Asian0.0007020.000653
Other0.001940.00163

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

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

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