Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284001
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 57
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCDC57
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049379 hsa-miR-92a-3p CLASH 23622248
MIRT869312 hsa-miR-1266 CLIP-seq
MIRT869313 hsa-miR-1291 CLIP-seq
MIRT869314 hsa-miR-1321 CLIP-seq
MIRT869315 hsa-miR-146b-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IDA 32402286
GO:0005515 Function Protein binding IPI 25416956, 32402286
GO:0005813 Component Centrosome IDA 32402286
GO:0005814 Component Centriole IDA 32402286
GO:0005876 Component Spindle microtubule IDA 32402286
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q2TAC2
Protein name Coiled-coil domain-containing protein 57
Protein function Pleiotropic regulator of centriole duplication, mitosis, and ciliogenesis. Critical interface between centrosome and microtubule-mediated cellular processes. Centriole duplication protein required for recruitment of CEP63, CEP152, and PLK4 to th
Family and domains
Sequence
MLPLGSEPALNELLLRKEEEWRALQAHRTQLQEAALQDTRSQLEEAQGKLRCLQEDFVYN
LQVLEERDLELERYDAAFAQAREWEEARRAEVSELKIEAAKLRQALAREARKVEELQQQQ
QLAFQEHRLELERVHSDKNGEIDHHREQYENLKWTLERKLEELDGELALQRQELLLEFES
KMRKREHEFRLQADNMSNTALSRELKVKLLHKELEALKEAGAKAAESLQRAEATNAELER
KLQSRAGELQDLEAMSRARVKDLEDKLHSVQLTRKKEEETFKRKHEELDRLAREKDAVLV
AVKGAHVEQLQELQTRVLELQAHCETLEAQLRRAEWRQADTAKEKDAAIDQLREDASTVK
SAWDAQIAQLSKEMVSRDLQIQTLQEEEVKLKAQVARSQQDIERYKQQLSLAVERERSLE
RDQVQLGLDWQRRCDDIERDQIQKSEALIQGLSMAKSQVAAKLQETEQALQEQEVVLKAV
TLERDQAVQALRMHGLPRPGAQMLLRQHEEEISKDFPSSEIQRLREQNTSLRNAIAQMRK
EMEALSHQIPPPIQTAAESTDANQPDPEAGGDAATPDYVLALEAEIRTLKHKFKTLEKHL
EDVLDPLKMSSPHAESQPSVRTSTETTGGSAQAGQAGGSVQAGQAGGSVQAGPVSSGLAL
RKLGDRVQLLNLLVTRLRQKVLREPLEPAALQRELPREVDQVHLEVLELRKQVAELGKHL
RIAQHGGAEPSGRKQPPASDAVALGREDAKSAEDEAPSRHLGKHQPRSAQVGSRLDALQG
PKTQHSIHTVTCKSPRQKEDRSPKPPQAPQHPEEHGRQSHSSSSFASGTLQDMWRLLDLG
SSPSGVTSQGDSTPELPAPPAADRRPVKMQAGIATPGMKTAAQAKAKTTGASRSHPAKAK
GCQRPPKIRNYNIMD
Sequence length 915
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Acne Acne GWAS
Associations from Text Mining
Disease Name Relationship Type References
Hereditary leiomyomatosis and renal cell cancer Associate 27375065
Overweight Associate 20679621
Prostatic Neoplasms Associate 20679621, 23989197