CEP89 (centrosomal protein 89)

Gene

• Entrez ID: 84902
• Gene name: Centrosomal protein 89
• Gene symbol: CEP89
• Synonyms (NCBI Gene): CCDC123, CEP123
• Chromosome: 19
• Chromosome location: 19q13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT626494	hsa-miR-7705	HITS-CLIP	23824327
MIRT626491	hsa-miR-103b	HITS-CLIP	23824327
MIRT626488	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT637695	hsa-miR-3135b	HITS-CLIP	23824327
MIRT637694	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT637693	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626487	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT518061	hsa-miR-3652	HITS-CLIP	23824327
MIRT518060	hsa-miR-4430	HITS-CLIP	23824327
MIRT637692	hsa-miR-656-5p	HITS-CLIP	23824327
MIRT626486	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626484	hsa-miR-5698	HITS-CLIP	23824327
MIRT626494	hsa-miR-7705	HITS-CLIP	23824327
MIRT637696	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT626492	hsa-miR-5693	HITS-CLIP	23824327
MIRT626491	hsa-miR-103b	HITS-CLIP	23824327
MIRT626488	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT637695	hsa-miR-3135b	HITS-CLIP	23824327
MIRT637694	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT637693	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626487	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT518061	hsa-miR-3652	HITS-CLIP	23824327
MIRT518060	hsa-miR-4430	HITS-CLIP	23824327
MIRT637692	hsa-miR-656-5p	HITS-CLIP	23824327
MIRT626486	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626484	hsa-miR-5698	HITS-CLIP	23824327
MIRT626498	hsa-miR-4418	HITS-CLIP	23824327
MIRT626497	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT626496	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT626495	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT626494	hsa-miR-7705	HITS-CLIP	23824327
MIRT626493	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626492	hsa-miR-5693	HITS-CLIP	23824327
MIRT626491	hsa-miR-103b	HITS-CLIP	23824327
MIRT626490	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626489	hsa-miR-1184	HITS-CLIP	23824327
MIRT626488	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT626487	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT626486	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626485	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT626484	hsa-miR-5698	HITS-CLIP	23824327
MIRT540580	hsa-miR-1245a	PAR-CLIP	21572407
MIRT540579	hsa-miR-8079	PAR-CLIP	21572407
MIRT540578	hsa-miR-4714-3p	PAR-CLIP	21572407
MIRT540577	hsa-miR-6513-3p	PAR-CLIP	21572407
MIRT540576	hsa-miR-3155a	PAR-CLIP	21572407
MIRT540575	hsa-miR-3155b	PAR-CLIP	21572407
MIRT540574	hsa-miR-484	PAR-CLIP	21572407
MIRT540573	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT540572	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT540571	hsa-miR-1915-3p	PAR-CLIP	21572407
MIRT540570	hsa-miR-6764-5p	PAR-CLIP	21572407
MIRT540569	hsa-miR-4726-3p	PAR-CLIP	21572407
MIRT540568	hsa-miR-532-3p	PAR-CLIP	21572407
MIRT540567	hsa-miR-1260a	PAR-CLIP	21572407
MIRT540566	hsa-miR-1260b	PAR-CLIP	21572407
MIRT540565	hsa-miR-6749-3p	PAR-CLIP	21572407
MIRT518068	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT518069	hsa-miR-7153-3p	PAR-CLIP	23446348
MIRT518067	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT518066	hsa-miR-889-5p	PAR-CLIP	23446348
MIRT518065	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518064	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT518063	hsa-miR-3176	PAR-CLIP	23446348
MIRT518062	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT518061	hsa-miR-3652	PAR-CLIP	23446348
MIRT518060	hsa-miR-4430	PAR-CLIP	23446348
MIRT518059	hsa-miR-5095	PAR-CLIP	23446348
MIRT518058	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518057	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518056	hsa-miR-6842-3p	PAR-CLIP	23446348
MIRT518055	hsa-miR-193a-3p	PAR-CLIP	23446348
MIRT626494	hsa-miR-7705	HITS-CLIP	23824327
MIRT626491	hsa-miR-103b	HITS-CLIP	23824327
MIRT626488	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT637695	hsa-miR-3135b	HITS-CLIP	23824327
MIRT637694	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT637693	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626487	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT518061	hsa-miR-3652	HITS-CLIP	23824327
MIRT518060	hsa-miR-4430	HITS-CLIP	23824327
MIRT637692	hsa-miR-656-5p	HITS-CLIP	23824327
MIRT626486	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626484	hsa-miR-5698	HITS-CLIP	23824327
MIRT626494	hsa-miR-7705	HITS-CLIP	23824327
MIRT637696	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT626492	hsa-miR-5693	HITS-CLIP	23824327
MIRT626491	hsa-miR-103b	HITS-CLIP	23824327
MIRT626488	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT637695	hsa-miR-3135b	HITS-CLIP	23824327
MIRT637694	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT637693	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626487	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT518061	hsa-miR-3652	HITS-CLIP	23824327
MIRT518060	hsa-miR-4430	HITS-CLIP	23824327
MIRT637692	hsa-miR-656-5p	HITS-CLIP	23824327
MIRT626486	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626484	hsa-miR-5698	HITS-CLIP	23824327
MIRT626498	hsa-miR-4418	HITS-CLIP	23824327
MIRT626497	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT626496	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT626495	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT626494	hsa-miR-7705	HITS-CLIP	23824327
MIRT626493	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626492	hsa-miR-5693	HITS-CLIP	23824327
MIRT626491	hsa-miR-103b	HITS-CLIP	23824327
MIRT626490	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626489	hsa-miR-1184	HITS-CLIP	23824327
MIRT626488	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT626487	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT626486	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626485	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT626484	hsa-miR-5698	HITS-CLIP	23824327
MIRT540580	hsa-miR-1245a	PAR-CLIP	21572407
MIRT540579	hsa-miR-8079	PAR-CLIP	21572407
MIRT540578	hsa-miR-4714-3p	PAR-CLIP	21572407
MIRT540577	hsa-miR-6513-3p	PAR-CLIP	21572407
MIRT540576	hsa-miR-3155a	PAR-CLIP	21572407
MIRT540575	hsa-miR-3155b	PAR-CLIP	21572407
MIRT540574	hsa-miR-484	PAR-CLIP	21572407
MIRT540573	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT540572	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT540571	hsa-miR-1915-3p	PAR-CLIP	21572407
MIRT540570	hsa-miR-6764-5p	PAR-CLIP	21572407
MIRT540569	hsa-miR-4726-3p	PAR-CLIP	21572407
MIRT540568	hsa-miR-532-3p	PAR-CLIP	21572407
MIRT540567	hsa-miR-1260a	PAR-CLIP	21572407
MIRT540566	hsa-miR-1260b	PAR-CLIP	21572407
MIRT540565	hsa-miR-6749-3p	PAR-CLIP	21572407
MIRT518068	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT518069	hsa-miR-7153-3p	PAR-CLIP	23446348
MIRT518067	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT518066	hsa-miR-889-5p	PAR-CLIP	23446348
MIRT518065	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518064	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT518063	hsa-miR-3176	PAR-CLIP	23446348
MIRT518062	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT518061	hsa-miR-3652	PAR-CLIP	23446348
MIRT518060	hsa-miR-4430	PAR-CLIP	23446348
MIRT518059	hsa-miR-5095	PAR-CLIP	23446348
MIRT518058	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518057	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518056	hsa-miR-6842-3p	PAR-CLIP	23446348
MIRT518055	hsa-miR-193a-3p	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	21399614
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	23789104, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	23575228
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	23348840
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	23575228
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	23575228
GO:0036064	Component	Ciliary basal body	IDA
GO:0045202	Component	Synapse	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	23348840
GO:0060271	Process	Cilium assembly	IMP	23348840
GO:0097539	Component	Ciliary transition fiber	IBA
GO:0097539	Component	Ciliary transition fiber	IDA	23348840, 23789104
GO:0097539	Component	Ciliary transition fiber	IEA
GO:0097730	Component	Non-motile cilium	IDA	23789104
GO:1905515	Process	Non-motile cilium assembly	IMP	23789104

Other IDs

• MIM: 615470
• HGNC: 25907
• e!Ensembl: ENSG00000121289

Protein

• UniProt ID: Q96ST8
• Protein name: Centrosomal protein of 89 kDa (Cep89) (Centrosomal protein 123) (Cep123) (Coiled-coil domain-containing protein 123)
• Protein function: Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.
• Sequence:

  MLLGFRRGRRSHFKHIIHGLLPAASVAPKAAVPRTPPPRSPNPSPERPRSALAAAILATT
  LTGRTVAIPQPRQRSRSESDVSSVEQDSFIEPYATTSQLRPRPNWQSEMGRRSSLPSFET
  LDYGDEEDIETQLSSSGKELGDVSAREDRGGHSDDLYAVPHRNQVPLLHEVNSEDDENIS
  HQDGFPGSPPAPQRTQQKDGKHPVLNLKDEKPPLCEKPPPSPDITGRARQRYTEITREKF
  EALKEENMDLNNMNQSLTLELNTMKQAMKELQLKLKGMEKEKRKLKEAEKASSQEVAAPE
  LLYLRKQAQELVDENDGLKMTVHRLNVELSRYQTKFRHLSKEESLNIEGLPSKGPIPPWL
  LDIKYLSPLLLAYEDMMKEKDELNATLKEEMRMFRMRVQEVVKENEELHQELNKSSAVTS
  EEWRQLQTQAKLVLEENKLLLEQLEIQQRKAKDSHQERLQEVSKLTKQLMLLEAKTHGQE
  KELAENREQLEILRAKCQELKTHSDGKIAVEVHKSIVNELKSQLQKEEEKERAEMEELME
  KLTVLQAQKKSLLLEKNSLTEQNKALEAELERAQKINRKSQKKIEVLKKQVEKAMGNEMS
  AHQYLANLVGLAENITQERDSLMCLAKCLESEKDGVLNKVIKSNIRLGKLEEKVKGYKKQ
  AALKLGDISHRLLEQQEDFAGKTAQYRQEMRHLHQVLKDKQEVLDQALQQNREMEGELEV
  IWESTFRENRRIRELLQDTLTRTGVQDNPRALVAPSLNGVSQADLLDGCDVCSYDLKSHA
  PTC

• Sequence length: 783

Pathways

Reactome:

Anchoring of the basal body to the plasma membrane

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEP89-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Renal Insufficiency Chronic	Associate	20383145	★☆☆☆☆ Found in Text Mining only