CEP20 (centrosomal protein 20)

Gene

• Entrez ID: 123811
• Gene name: Centrosomal protein 20
• Gene symbol: CEP20
• Synonyms (NCBI Gene): C16orf63, FOPNL, FOR20, PHSECRG2
• Chromosome: 16
• Chromosome location: 16p13.11

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0034451	Component	Centriolar satellite	IDA	15616553
GO:0034451	Component	Centriolar satellite	IEA
GO:0034453	Process	Microtubule anchoring	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042802	Function	Identical protein binding	IPI	20551181, 31837246
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	15616553

Other IDs

• MIM: 617149
• HGNC: 26435
• e!Ensembl: ENSG00000133393

Protein

• UniProt ID: Q96NB1
• Protein name: Centrosomal protein 20 (FGFR1OP N-terminal-like protein) (FOP-related protein of 20 kDa) (LisH domain-containing protein FOPNL)
• Protein function: Involved in the biogenesis of cilia (PubMed:20551181). Required for the recruitment of PLK1 to centrosomes and S phase progression (PubMed:24018379).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09398	FOP_dimer	43 → 113	FOP N terminal dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Detected in brain, heart, kidney, liver, lung, skeletal muscle, placenta and intestine. {ECO:0000269|PubMed:20551181}.
• Sequence:

  MATVAELKAVLKDTLEKKGVLGHLKARIRAEVFNALDDDREPRPSLSHENLLINELIREY
  LEFNKYKYTASVLIAESGQPVVPLDRQFLIHELNAFEESKDNTIPLLYGILAHFLRGTKD
  GIQNAFLKGPSLQPSDPSLGRQPSRRKPMDDHLRKEEQKSTNIEDLHVSQAVNR

• Sequence length: 174

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
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cerebrovascular accident	Stroke	BEFREE	29123485		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	26643951		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27354410		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27354410		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31655129		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28328844		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31130428		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28053342		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31655129		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	21801611		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11279618, 26198393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	26198393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	26643951		★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	26643951		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	11279618		★☆☆☆☆ Found in Text Mining only