KIZ (kizuna centrosomal protein)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 55857
Gene name Kizuna centrosomal protein
Gene symbol KIZ
Synonyms (NCBI Gene)
C20orf19HT013KizunaNCRNA00153PLK1S1RP69
Chromosome 20
Chromosome location 20p11.23
Summary The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript
SNPs SNP information provided by dbSNP.
4
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs202210819 C>T Pathogenic 5 prime UTR variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs587777376 G>T Pathogenic Stop gained, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs587777377 AACT>- Pathogenic 5 prime UTR variant, coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1254494198 TTGAGCGT>- Likely-pathogenic Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant, intron variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16980960, 19536135, 25416956, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 16980960
GO:0005813 Component Centrosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615757 15865 ENSG00000088970
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2M2Z5
Protein name Centrosomal protein kizuna (Polo-like kinase 1 substrate 1)
Protein 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
Family and domains
Sequence 
MSRTLASAVPLSSPDYYERLGQLQHGLRDSEKKRLDLEKKLYEYNQSDTCRVKLKYVKLK
NYLKEICESEKKAHTRNQEYLKRFERVQAHVVHFTTNTEKLQKLKLEYETQIKKMLCSKD
SLGLKEELTDEDREKVAVHEGINSGTAMSRGLYQPATIFMGRQMSAILSMRDFSTEHKSP
QPTKNFSIPDPHSHRQTAQSSNVTDSCVVQTSNDTQCLNKSDNIDGKASLQIGEKMPVTA
SVLSEEEQTHCLEIGSNTRHGKSNLSEGKKSAELNSPLRERLSPENRTTDLKCDSSSGSE
GEILTREHIEVEEKRASPPVSPIPVSEYCESENKWSQEKHSPWEGVSDHLAHREPKSQKP
FRKMQEEEEESWSTSSDLTISISEDDLILESPEPQPNPGGKMEGEDGIEALKLIHAEQER
VALSTEKNCILQTLSSPDSEKESSTNAPTREPGQTPDSDVPRAQVGQHVATLKEHDNSVK
EEATALLRKALTEECGRRSAIHSSESSCSLPSILNDNSGIKEAKPAVWLNSVPTREQEVS
SGCGDKSKKENVAADIPITETEAYQLLKKATLQDNTNQTENRFQKTDASVSHLSGLNIGS
GAFETKTANKIASEASFSSSEGSPLSRHENKKKPVINLKSNALWDESDDSNSEIEAALRP
RNHNTDDSDDFYD
Sequence length 673
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (9)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Likely pathogenic rs754547088 RCV005909001
KIZ-related disorder Pathogenic rs202210819 RCV003390800
KIZ-related retinopathy Likely pathogenic; Pathogenic rs2033722183 RCV005359951
Lung cancer Likely pathogenic rs750460795 RCV005925715
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs6047271 RCV005914022
Sarcoma Likely benign rs374524997 RCV005932153
Uterine carcinosarcoma Benign rs6047271 RCV005914023
Uterine corpus endometrial carcinoma Uncertain significance rs565902310 RCV005928586
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 33000253
Cone Rod Dystrophies Associate 32052671
Death Associate 32052671
Neoplasms Associate 33000253
Patterned dystrophy of retinal pigment epithelium Associate 32052671
Retinitis Associate 32052671
Retinitis Pigmentosa Associate 32052671
Thyroid Cancer Papillary Associate 35280112