CEP20 (centrosomal protein 20)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123811
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP20
Synonyms (NCBI Gene) Gene synonyms aliases
C16orf63, FOPNL, FOR20, PHSECRG2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.11
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(25)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617149 26435 ENSG00000133393
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
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
Psoriasis Psoriasis N/A N/A GWAS