KIF19

kinesin family member 19, the group of Kinesins

Basic information

Region (hg38): 17:74326210-74355820

Links

ENSG00000196169

∙ NCBI:124602 ∙ OMIM:619610 ∙ HGNC:26735 ∙ Uniprot:Q2TAC6 ∙ 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 KIF19 gene.

not_specified (189 variants)
not_provided (9 variants)
Non-immune_hydrops_fetalis (2 variants)

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. These statistics are base on transcript: NM_000153209.4. 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				2 clinvar	1 clinvar	3
missense	1 clinvar		183 clinvar	8 clinvar	1 clinvar	193
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)						0
Total	1	0	183	10	3

Highest pathogenic variant AF is 0.00013715662

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF19	protein_coding	protein_coding	ENST00000389916	20	29611

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.47e-17	0.461	124467	6	1120	125593	0.00449

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0143	619	620	0.998	0.0000396	6350
Missense in Polyphen		124	149.73	0.82817		1459
Synonymous	2.01	216	257	0.840	0.0000158	2039
Loss of Function	1.72	33	45.5	0.725	0.00000225	500

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00599	0.00594
Ashkenazi Jewish	0.00336	0.00328
East Asian	0.000223	0.000218
Finnish	0.0102	0.0101
European (Non-Finnish)	0.00538	0.00528
Middle Eastern	0.000223	0.000218
South Asian	0.00237	0.00229
Other	0.00647	0.00622

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

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

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