KIZ (kizuna centrosomal protein)

2014-11-01  

Identity

HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
C20orf19,HT013,Kizuna,NCRNA00153,PLK1S1,RP69
FUSION GENES

Other Information

Locus ID:

NCBI: 55857
MIM: 615757
HGNC: 15865
Ensembl: ENSG00000088970

Variants:

dbSNP: 55857
ClinVar: 55857
TCGA: ENSG00000088970
COSMIC: KIZ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088970ENST00000611685A0A087X0T6
ENSG00000088970ENST00000612654A0A087WXA9
ENSG00000088970ENST00000616679A0A087X032
ENSG00000088970ENST00000616848Q2M2Z5
ENSG00000088970ENST00000619179A0A087WTH3
ENSG00000088970ENST00000619189Q2M2Z5
ENSG00000088970ENST00000619574A0A087X251
ENSG00000088970ENST00000620891Q2M2Z5
ENSG00000088970ENST00000621366A0A087WX12

Expression (GTEx)

0
10
20
30
40
50
60
70

References

Pubmed IDYearTitleCitations
389277402024Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.0
389277402024Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.0
320526712020Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.3
330002532020Long non‑coding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA‑653 and altering C‑X‑C chemokine receptor 5 expression.4
320526712020Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.3
330002532020Long non‑coding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA‑653 and altering C‑X‑C chemokine receptor 5 expression.4
246808872014Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.31
255588302014Kizuna is a novel mitotic substrate for CDC25B phosphatase.4
246808872014Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.31
255588302014Kizuna is a novel mitotic substrate for CDC25B phosphatase.4

Citation

Dessen P

KIZ (kizuna centrosomal protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64942/