Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84902
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 89
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP89
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC123, CEP123
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.11
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 21399614
GO:0005515 Function Protein binding IPI 23789104
GO:0005758 Component Mitochondrial intermembrane space IEA
GO:0005813 Component Centrosome IDA 21399614
GO:0005814 Component Centriole IDA 23348840
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615470 25907 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.
Family and domains
Sequence
MLLGFRRGRRSHFKHIIHGLLPAASVAPKAAVPRTPPPRSPNPSPERPRSALAAAILATT
LTGRTVAIPQPRQRSRSESDVSSVEQDSFIEPYATTSQLRPRPNWQSEMGRRSSLPSFET
LDYGDEEDIETQLSSSGKELGDVSAREDRGGHSDDLYAVPHRNQVPLLHEVNSEDDENIS
HQDGFPGSPPAPQRTQQKDGKHPVLNLKDEKPPLCEKPPPSPDITGRARQRYTEITREKF
EALKEENMDLNNMNQSLTLELNTMKQAMKELQLKLKGMEKEKRKLKEAEKASSQEVAAPE
LLYLRKQAQELVDENDGLKMTVHRLNVELSRYQTKFRHLSKEESLNIEGLPSKGPIPPWL
LDIKYLSPLLLAYEDMMKEKDELNATLKEEMRMFRMRVQEVVKENEELHQELNKSSAVTS
EEWRQLQTQAKLVLEENKLLLEQLEIQQRKAKDSHQERLQEVSKLTKQLMLLEAKTHGQE
KELAENREQLEILRAKCQELKTHSDGKIAVEVHKSIVNELKSQLQKEEEKERAEMEELME
KLTVLQAQKKSLLLEKNSLTEQNKALEAELERAQKINRKSQKKIEVLKKQVEKAMGNEMS
AHQYLANLVGLAENITQERDSLMCLAKCLESEKDGVLNKVIKSNIRLGKLEEKVKGYKKQ
AALKLGDISHRLLEQQEDFAGKTAQYRQEMRHLHQVLKDKQEVLDQALQQNREMEGELEV
IWESTFRENRRIRELLQDTLTRTGVQDNPRALVAPSLNGVSQADLLDGCDVCSYDLKSHA
PTC
Sequence length 783
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Anchoring of the basal body to the plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 21452313
Unknown
Disease term Disease name Evidence References Source
Mental retardation intellectual disability GenCC
Kidney Disease Kidney Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Renal Insufficiency Chronic Associate 20383145