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 (420 variants)
• not_specified (63 variants)
• Retinal_dystrophy (30 variants)
• KIZ-related_disorder (17 variants)
• Retinitis_pigmentosa_69 (10 variants)
• Retinitis_pigmentosa (3 variants)
• KIZ-related_retinopathy (2 variants)
• Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures (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. These statistics are base on transcript: NM_000018474.6. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3	86	3	92
missense		1	212	18	6	237
nonsense	12	2				14
start loss		1				1
frameshift	18	6	3	1	1	29
splice donor/acceptor (+/-2bp)	1	10				11
Total	31	20	218	105	10

Highest pathogenic variant AF is 0.00020728745

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

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