KIF19

kinesin family member 19, the group of Kinesins

Basic information

Region (hg38): 17:74326210-74355820

Links

ENSG00000196169NCBI:124602OMIM:619610HGNC:26735Uniprot:Q2TAC6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF19 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF19 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
1
clinvar
3
missense
81
clinvar
6
clinvar
1
clinvar
88
nonsense
0
start loss
0
frameshift
1
clinvar
1
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
2
3
non coding
0
Total 0 0 81 8 3

Variants in KIF19

This is a list of pathogenic ClinVar variants found in the KIF19 region.

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

Position Type Phenotype Significance ClinVar
17-74328437-G-T not specified Uncertain significance (Feb 27, 2024)3114570
17-74328440-C-T not specified Uncertain significance (Nov 18, 2022)3114571
17-74341921-C-T not specified Uncertain significance (Jan 04, 2022)2348466
17-74341949-A-G not specified Uncertain significance (Feb 14, 2023)2483532
17-74341957-G-A not specified Uncertain significance (Feb 28, 2024)3114560
17-74341978-G-A not specified Uncertain significance (Mar 20, 2024)3288337
17-74342626-G-A Benign (Oct 01, 2018)1287685
17-74342648-A-G not specified Uncertain significance (Jun 29, 2022)2299097
17-74342666-G-A not specified Uncertain significance (Aug 21, 2023)2620463
17-74342670-G-T not specified Uncertain significance (Sep 12, 2023)2622923
17-74342672-G-A not specified Uncertain significance (Dec 02, 2022)2331872
17-74343054-C-T not specified Uncertain significance (May 13, 2024)3288347
17-74343146-A-G not specified Uncertain significance (Mar 16, 2022)2345933
17-74344230-A-G not specified Uncertain significance (Feb 05, 2024)3114568
17-74344241-C-T not specified Uncertain significance (Dec 14, 2021)2407001
17-74344281-G-A not specified Uncertain significance (Mar 19, 2024)3288341
17-74344293-AG-A Benign (Mar 29, 2018)779462
17-74344326-T-G not specified Uncertain significance (Aug 02, 2023)2601234
17-74344341-C-A not specified Uncertain significance (Jun 17, 2022)2295856
17-74344776-A-T not specified Uncertain significance (Aug 30, 2022)2309604
17-74344810-C-T not specified Uncertain significance (Apr 20, 2024)3288340
17-74344842-G-A Likely benign (Mar 01, 2024)711078
17-74344867-A-G not specified Uncertain significance (Jul 05, 2023)2610084
17-74344867-A-T not specified Uncertain significance (Mar 01, 2023)2472657
17-74344869-C-T not specified Uncertain significance (Sep 23, 2023)3114572

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIF19protein_codingprotein_codingENST00000389916 2029611
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.47e-170.461124467611201255930.00449
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.01436196200.9980.00003966350
Missense in Polyphen124149.730.828171459
Synonymous2.012162570.8400.00001582039
Loss of Function1.723345.50.7250.00000225500

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.005990.00594
Ashkenazi Jewish0.003360.00328
East Asian0.0002230.000218
Finnish0.01020.0101
European (Non-Finnish)0.005380.00528
Middle Eastern0.0002230.000218
South Asian0.002370.00229
Other0.006470.00622

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips. {ECO:0000250}.;
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)

Intolerance Scores

loftool
0.915
rvis_EVS
0.06
rvis_percentile_EVS
57.56

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.275
ghis
0.564

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0249

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumMedium
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Kif19a
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); reproductive system phenotype; respiratory system 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); growth/size/body region phenotype; cellular phenotype;

Gene ontology

Biological process
microtubule-based movement;axonemal microtubule depolymerization;plus-end specific microtubule depolymerization
Cellular component
kinesin complex;microtubule;cilium;axoneme
Molecular function
microtubule motor activity;ATP binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity