KIZ (kizuna centrosomal protein)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55857
Gene name Gene Name - the full gene name approved by the HGNC.
Kizuna centrosomal protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIZ
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf19, HT013, Kizuna, NCRNA00153, PLK1S1, RP69
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615757 15865 ENSG00000088970
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
retinal dystrophy Retinal dystrophy rs587777377, rs1254494198, rs775124094, rs890128759, rs202210819 N/A
Retinitis Pigmentosa retinitis pigmentosa 69, retinitis pigmentosa rs587777377, rs1254494198, rs2031451980, rs202210819, rs587777376 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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