KIZ

kizuna centrosomal protein

Basic information

Region (hg38): 20:21125983-21246622

Previous symbols: [ "NCRNA00153", "C20orf19", "PLK1S1" ]

Links

ENSG00000088970

∙ NCBI:55857 ∙ OMIM:615757 ∙ HGNC:15865 ∙ Uniprot:Q2M2Z5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

retinitis pigmentosa 69 (Strong), mode of inheritance: AR
retinitis pigmentosa (Supportive), mode of inheritance: AD
retinitis pigmentosa 69 (Strong), mode of inheritance: AR
inherited retinal dystrophy (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Retinitis pigmentosa 69	AR	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	Ophthalmologic	24680887

ClinVar

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

not provided (28 variants)
Retinitis pigmentosa 69 (4 variants)
Retinitis pigmentosa (2 variants)
Retinal dystrophy (2 variants)
KIZ-related disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIZ 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			6 clinvar	70 clinvar	3 clinvar	79
missense		1 clinvar	198 clinvar	10 clinvar	8 clinvar	217
nonsense	12 clinvar	1 clinvar				13
start loss			1 clinvar			1
frameshift	15 clinvar	4 clinvar	3 clinvar		1 clinvar	23
inframe indel			3 clinvar	2 clinvar		5
splice donor/acceptor (+/-2bp)	1 clinvar	9 clinvar				10
splice region	1		8	6	1	16
non coding			12 clinvar	40 clinvar	7 clinvar	59
Total	28	15	223	122	19

Highest pathogenic variant AF is 0.000316

Variants in KIZ

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

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

Position	Phenotype	Significance	ClinVar
20-21126050-C-G	Retinal dystrophy	Uncertain significance (Oct 01, 2023)	3028536
20-21126063-C-T	Retinal dystrophy	Uncertain significance (Oct 01, 2023)	3028537
20-21126073-C-CA		Uncertain significance (Aug 01, 2023)	2652235
20-21126073-C-CG	Retinal dystrophy	Benign (Oct 01, 2023)	3028538
20-21126097-C-T	KIZ-related disorder	Likely benign (Sep 16, 2019)	3053570
20-21126118-G-A		Conflicting classifications of pathogenicity (Oct 10, 2023)	1399389
20-21126122-C-T		Uncertain significance (Oct 24, 2022)	1362774
20-21126124-G-A		Likely benign (Dec 23, 2021)	2054791
20-21126126-C-T		Uncertain significance (Aug 16, 2022)	950295
20-21126128-C-T	not specified	Uncertain significance (Jan 23, 2024)	1359249
20-21126129-T-G		Uncertain significance (Aug 16, 2022)	938462
20-21126130-C-G		Likely benign (Jan 24, 2024)	2099587
20-21126131-G-T	not specified	Uncertain significance (Nov 08, 2022)	2323028
20-21126139-C-G		Likely benign (Nov 16, 2020)	1648972
20-21126142-G-A		Likely benign (Aug 30, 2023)	1655533
20-21126142-G-T		Likely benign (Nov 27, 2023)	1061193
20-21126145-C-A	Retinal dystrophy	Uncertain significance (Oct 01, 2023)	3028539
20-21126145-C-G		Likely benign (Jun 22, 2023)	1553341
20-21126145-C-T		Likely benign (Apr 24, 2023)	2171907
20-21126147-T-A		Uncertain significance (May 25, 2022)	1945467
20-21126150-C-A		Pathogenic (Aug 21, 2022)	2025841
20-21126151-G-C		Likely benign (Nov 01, 2022)	1057489
20-21126163-C-T	Retinal dystrophy	Benign/Likely benign (Jan 23, 2024)	778878
20-21126164-T-TA		Pathogenic (Jul 12, 2022)	1072938
20-21126167-G-T	Retinitis pigmentosa 69	Pathogenic (Jul 03, 2023)	128242

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole. {ECO:0000269|PubMed:16980960}.;
Disease: DISEASE: Retinitis pigmentosa 69 (RP69) [MIM:615780]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:24680887}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: PLK1 signaling events (Consensus)

Recessive Scores

pRec: 0.0666

Haploinsufficiency Scores

pHI: 0.0386
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name: Kiz
Phenotype: normal phenotype;

Gene ontology

Biological process: spindle organization
Cellular component: cytoplasm;centrosome;cell projection
Molecular function: protein binding;protein kinase binding