Gene Gene information from NCBI Gene database.
Entrez ID 55743
Gene name Checkpoint with forkhead and ring finger domains
Gene symbol CHFR
Synonyms (NCBI Gene)
RNF116RNF196
Chromosome 12
Chromosome location 12q24.33
Summary This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has
miRNA miRNA information provided by mirtarbase database.
96
miRTarBase ID miRNA Experiments Reference
MIRT030587 hsa-miR-24-3p Microarray 19748357
MIRT047652 hsa-miR-10a-5p CLASH 23622248
MIRT889812 hsa-miR-1183 CLIP-seq
MIRT889813 hsa-miR-1200 CLIP-seq
MIRT889814 hsa-miR-1253 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IDA 18172500
GO:0000209 Process Protein polyubiquitination IEA
GO:0000278 Process Mitotic cell cycle IEA
GO:0000278 Process Mitotic cell cycle IEA
GO:0004842 Function Ubiquitin-protein transferase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605209 20455 ENSG00000072609
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EP1
Protein name E3 ubiquitin-protein ligase CHFR (EC 2.3.2.27) (Checkpoint with forkhead and RING finger domains protein) (RING finger protein 196) (RING-type E3 ubiquitin transferase CHFR)
Protein function E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each
PDB 1LGP , 1LGQ , 2XOC , 2XOY , 2XOZ , 2XP0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00498 FHA 38 106 FHA domain Family
PF13923 zf-C3HC4_2 303 342 Domain
PF17979 zf-CRD 462 620 Cysteine rich domain with multizinc binding regions Domain
PF10283 zf-CCHH 632 661 PBZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10935642}.
Sequence
MERPEEGKQSPPPQPWGRLLRLGAEEGEPHVLLRKREWTIGRRRGCDLSFPSNKLVSGDH
CRIVVDEKSGQVTLEDTSTSGTVINKLKVVKKQTCPLQTGDVIYLV
YRKNEPEHNVAYLY
ESLSEKQGMTQESFEANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTS
TSDLFPTASASSTEPSPAGRERSSSCGSGGGGISPKGSGPSVASDEVSSFASALPDRKTA
SFSSLEPQDQEDLEPVKKKMRGDGDLDLNGQLLVAQPRRNAQTVHEDVRAAAGKPDKMEE
TLTCIICQDLLHDCVSLQPCMHTFCAACYSGWMERSSLCPTCRCPVERICKNHILNNLVE
AYLIQHPDKSRSEEDVQSMDARNKITQDMLQPKVRRSFSDEEGSSEDLLELSDVDSESSD
ISQPYVVCRQCPEYRRQAAQPPHCPAPEGEPGAPQALGDAPSTSVSLTTAVQDYVCPLQG
SHALCTCCFQPMPDRRAEREQDPRVAPQQCAVCLQPFCHLYWGCTRTGCYGCLAPFCELN
LGDKCLDGVLNNNSYESDILKNYLATRGLTWKNMLTESLVALQRGVFLLSDYRVTGDTVL
CYCCGLRSFRELTYQYRQNI
PASELPVAVTSRPDCYWGRNCRTQVKAHHAMKFNHICEQT
R
FKN
Sequence length 664
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Uncertain significance rs2306536 RCV005927261
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 25477232
Adenoma Inhibit 12810945
Aneuploidy Associate 14694445
Biliary Tract Neoplasms Associate 15471559
Breast Neoplasms Associate 14694445, 17596595
Carcinogenesis Associate 15138487, 18763281, 19182791, 20109344
Carcinogenesis Inhibit 18335050
Carcinoma Non Small Cell Lung Associate 20855974, 25477232, 25828518
Carcinoma Squamous Cell Associate 25065733
Cholangiocarcinoma Associate 17550320