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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KIZ
kizuna centrosomal protein
Chromosome 20 Β· 20p11.23
NCBI Gene: 55857Ensembl: ENSG00000088970.16HGNC: HGNC:15865UniProt: A0A087X251
27PubMed Papers
21Diseases
0Drugs
51Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein kinase bindingspindle organizationcentrosomeretinitis pigmentosa 69retinitis pigmentosaRetinal dystrophyAbnormality of the skeletal system
✦AI Summary

KIZ (kizuna centrosomal protein) is a centrosomal protein essential for establishing robust mitotic centrosome architecture capable of withstanding forces generated during spindle formation 1. The protein localizes to the basal body of primary cilia in fibroblasts and the base of the photoreceptor connecting cilium in retinal tissue 1. KIZ functions by stabilizing expanded pericentriolar material around the centriole, supporting centrosome organization and spindle formation through protein-protein interactions 1. Mutations in KIZ cause retinitis pigmentosa 69 (RP69), a rod-cone dystrophy characterized by progressive photoreceptor degeneration 1. Multiple pathogenic variants have been identified, including nonsense mutations (c.226C>T, p.Arg76*; c.52G>T, p.Glu18*; c.3G>A, p.Met1?) and frameshift deletions (c.119_122del) 1. The disease mechanism appears complex: while mutations are predicted to trigger nonsense-mediated mRNA decay, patient-derived fibroblasts show unexpectedly preserved KIZ localization and normal cilia length, suggesting that retinal-specific pathogenic mechanisms may not be fully captured in fibroblast models 1. These findings indicate KIZ is critical for photoreceptor function and highlight the need for retinal-specific models, such as induced pluripotent stem cells, to elucidate the pathogenic mechanisms underlying KIZ-associated retinitis pigmentosa.

Sources cited
1
KIZ mutations cause rod-cone dystrophy (retinitis pigmentosa 69); KIZ localizes to basal body of primary cilia and photoreceptor connecting cilium; protein stabilizes pericentriolar material and supports centrosome architecture
PMID: 29057815
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
retinitis pigmentosa 69Open Targets
0.66Moderate
retinitis pigmentosaOpen Targets
0.62Moderate
Retinal dystrophyOpen Targets
0.61Moderate
Abnormality of the skeletal systemOpen Targets
0.46Moderate
KIZ-related retinopathyOpen Targets
0.45Moderate
autism spectrum disorderOpen Targets
0.41Moderate
attention deficit hyperactivity disorderOpen Targets
0.40Moderate
atrial fibrillationOpen Targets
0.38Weak
Rod-cone dystrophyOpen Targets
0.37Weak
schizophreniaOpen Targets
0.36Weak
bipolar disorderOpen Targets
0.35Weak
major depressive disorderOpen Targets
0.35Weak
Ewing sarcomaOpen Targets
0.32Weak
HypercholesterolemiaOpen Targets
0.31Weak
Tourette syndromeOpen Targets
0.29Weak
hypertensionOpen Targets
0.28Weak
anorexia nervosaOpen Targets
0.28Weak
obsessive-compulsive disorderOpen Targets
0.28Weak
oligodendrogliomaOpen Targets
0.28Weak
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresOpen Targets
0.27Weak
Retinitis pigmentosa 69UniProt
Pathogenic Variants51
NM_018474.6(KIZ):c.251_258del (p.Phe84fs)Pathogenic
not provided|Retinitis pigmentosa|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 84
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)Pathogenic
Retinitis pigmentosa 69|not provided|Retinal dystrophy|Retinitis pigmentosa|KIZ-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 76
NM_018474.6(KIZ):c.119_122del (p.Lys40fs)Pathogenic
Retinitis pigmentosa 69|Retinal dystrophy|not provided|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2025β†’ Residue 40
NM_018474.6(KIZ):c.3G>A (p.Met1Ile)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_018474.6(KIZ):c.1612+2T>GLikely pathogenic
not provided|Retinitis pigmentosa 69
β˜…β˜…β˜†β˜†2025
NM_018474.6(KIZ):c.116del (p.Lys39fs)Pathogenic
not provided|Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
β˜…β˜…β˜†β˜†2025β†’ Residue 39
NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)Pathogenic
Retinitis pigmentosa 69|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 18
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 195
NM_018474.6(KIZ):c.405+1dupPathogenic
not provided|Retinitis pigmentosa 69
β˜…β˜…β˜†β˜†2024
NM_018474.6(KIZ):c.581_605del (p.His194fs)Pathogenic
not provided|Retinitis pigmentosa 69
β˜…β˜…β˜†β˜†2024β†’ Residue 194
NM_018474.6(KIZ):c.62_65del (p.Gly21fs)Pathogenic
Retinal dystrophy|Retinitis pigmentosa 69
β˜…β˜…β˜†β˜†2024β†’ Residue 21
NM_018474.6(KIZ):c.1001dup (p.Trp335fs)Pathogenic
not provided|KIZ-related retinopathy
β˜…β˜…β˜†β˜†2023β†’ Residue 335
NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 467
NM_018474.6(KIZ):c.316-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_018474.6(KIZ):c.1353-2A>CLikely pathogenic
not provided|Lung cancer
β˜…β˜†β˜†β˜†2025
NM_018474.6(KIZ):c.595C>T (p.Gln199Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 199
NM_018474.6(KIZ):c.1090dup (p.Met364fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 364
NM_018474.6(KIZ):c.1353-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_018474.6(KIZ):c.732_829del (p.Glu245fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 245
NM_018474.6(KIZ):c.1678+2T>CLikely pathogenic
not provided|Adrenocortical carcinoma, hereditary
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
SCLT1Protein interaction84%ASPMShared pathway50%CEP72Shared pathway50%AUNIPShared pathway33%NTMT1Shared pathway33%CHD3Shared pathway20%
Tissue Expression6 tissues
Ovary
100%
Heart
53%
Bone Marrow
47%
Brain
45%
Liver
32%
Lung
31%
Gene Interaction Network
Click a node to explore
KIZSCLT1ASPMCEP72AUNIPNTMT1CHD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q2M2Z5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.90 [0.68–1.23]
RankingsWhere KIZ stands among ~20K protein-coding genes
  • #12,590of 20,598
    Most Researched27
  • #1,319of 5,498
    Most Pathogenic Variants51 Β· top quartile
  • #12,926of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedKIZ
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The role of m6A modification in the biological functions and diseases.
PMID: 33611339
Signal Transduct Target Ther Β· 2021
1.00
2
Activation of innate immune cGAS-STING pathway contributes to Alzheimer's pathogenesis in 5Γ—FAD mice.
PMID: 37118112
Nat Aging Β· 2023
0.90
3
Comparative single-cell multiome identifies evolutionary changes in neural progenitor cells during primate brain development.
PMID: 39481377
Dev Cell Β· 2025
0.80
4
Gut microbiota contributes to high-altitude hypoxia acclimatization of human populations.
PMID: 39198826
Genome Biol Β· 2024
0.70
5
Discovery of a molecular glue for EGFR degradation.
PMID: 39627505
Oncogene Β· 2025
0.60