CHFR (checkpoint with forkhead and ring finger domains)

Gene

• Entrez ID: 55743
• Gene name: Checkpoint with forkhead and ring finger domains
• Gene symbol: CHFR
• Synonyms (NCBI Gene): RNF116, RNF196
• 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

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
MIRT889815	hsa-miR-1297	CLIP-seq
MIRT889816	hsa-miR-26a	CLIP-seq
MIRT889817	hsa-miR-26b	CLIP-seq
MIRT889818	hsa-miR-3185	CLIP-seq
MIRT889819	hsa-miR-3613-3p	CLIP-seq
MIRT889820	hsa-miR-4251	CLIP-seq
MIRT889821	hsa-miR-4282	CLIP-seq
MIRT889822	hsa-miR-4324	CLIP-seq
MIRT889823	hsa-miR-4465	CLIP-seq
MIRT889824	hsa-miR-4698	CLIP-seq
MIRT889825	hsa-miR-4703-3p	CLIP-seq
MIRT889826	hsa-miR-498	CLIP-seq
MIRT889827	hsa-miR-499a-5p	CLIP-seq
MIRT889828	hsa-miR-513a-3p	CLIP-seq
MIRT889829	hsa-miR-544b	CLIP-seq
MIRT889830	hsa-miR-548c-3p	CLIP-seq
MIRT889831	hsa-miR-548p	CLIP-seq
MIRT889832	hsa-miR-1226	CLIP-seq
MIRT889833	hsa-miR-1245b-3p	CLIP-seq
MIRT889815	hsa-miR-1297	CLIP-seq
MIRT889816	hsa-miR-26a	CLIP-seq
MIRT889817	hsa-miR-26b	CLIP-seq
MIRT889834	hsa-miR-3141	CLIP-seq
MIRT889835	hsa-miR-3180-5p	CLIP-seq
MIRT889821	hsa-miR-4282	CLIP-seq
MIRT889836	hsa-miR-4459	CLIP-seq
MIRT889823	hsa-miR-4465	CLIP-seq
MIRT889837	hsa-miR-4470	CLIP-seq
MIRT889824	hsa-miR-4698	CLIP-seq
MIRT889838	hsa-miR-4733-3p	CLIP-seq
MIRT889839	hsa-miR-4738-5p	CLIP-seq
MIRT889840	hsa-miR-4779	CLIP-seq
MIRT889841	hsa-miR-4795-3p	CLIP-seq
MIRT889826	hsa-miR-498	CLIP-seq
MIRT889828	hsa-miR-513a-3p	CLIP-seq
MIRT889842	hsa-miR-520a-5p	CLIP-seq
MIRT889843	hsa-miR-525-5p	CLIP-seq
MIRT889830	hsa-miR-548c-3p	CLIP-seq
MIRT889844	hsa-miR-665	CLIP-seq
MIRT1963662	hsa-miR-3193	CLIP-seq
MIRT1963663	hsa-miR-3649	CLIP-seq
MIRT1963664	hsa-miR-4274	CLIP-seq
MIRT1963665	hsa-miR-4323	CLIP-seq
MIRT1963666	hsa-miR-4328	CLIP-seq
MIRT1963667	hsa-miR-4467	CLIP-seq
MIRT1963668	hsa-miR-4519	CLIP-seq
MIRT1963669	hsa-miR-4520a-3p	CLIP-seq
MIRT1963670	hsa-miR-4520b-3p	CLIP-seq
MIRT1963671	hsa-miR-4524	CLIP-seq
MIRT1963672	hsa-miR-4529-3p	CLIP-seq
MIRT1963673	hsa-miR-492	CLIP-seq
MIRT1963674	hsa-miR-451b	CLIP-seq
MIRT2200010	hsa-miR-103a	CLIP-seq
MIRT2200011	hsa-miR-107	CLIP-seq
MIRT2200012	hsa-miR-1343	CLIP-seq
MIRT2200013	hsa-miR-15a	CLIP-seq
MIRT2200014	hsa-miR-15b	CLIP-seq
MIRT2200015	hsa-miR-16	CLIP-seq
MIRT2200016	hsa-miR-195	CLIP-seq
MIRT2200017	hsa-miR-3155	CLIP-seq
MIRT2200018	hsa-miR-3155b	CLIP-seq
MIRT1963662	hsa-miR-3193	CLIP-seq
MIRT1963663	hsa-miR-3649	CLIP-seq
MIRT2200019	hsa-miR-424	CLIP-seq
MIRT1963665	hsa-miR-4323	CLIP-seq
MIRT2200020	hsa-miR-4508	CLIP-seq
MIRT2200021	hsa-miR-484	CLIP-seq
MIRT1963673	hsa-miR-492	CLIP-seq
MIRT2200022	hsa-miR-497	CLIP-seq
MIRT2200010	hsa-miR-103a	CLIP-seq
MIRT2200011	hsa-miR-107	CLIP-seq
MIRT2200012	hsa-miR-1343	CLIP-seq
MIRT2200013	hsa-miR-15a	CLIP-seq
MIRT2200014	hsa-miR-15b	CLIP-seq
MIRT2200015	hsa-miR-16	CLIP-seq
MIRT2200016	hsa-miR-195	CLIP-seq
MIRT2200017	hsa-miR-3155	CLIP-seq
MIRT2200018	hsa-miR-3155b	CLIP-seq
MIRT1963662	hsa-miR-3193	CLIP-seq
MIRT2678086	hsa-miR-3648	CLIP-seq
MIRT1963663	hsa-miR-3649	CLIP-seq
MIRT2678087	hsa-miR-377	CLIP-seq
MIRT2200019	hsa-miR-424	CLIP-seq
MIRT1963665	hsa-miR-4323	CLIP-seq
MIRT2678088	hsa-miR-4457	CLIP-seq
MIRT2200020	hsa-miR-4508	CLIP-seq
MIRT2678089	hsa-miR-4731-3p	CLIP-seq
MIRT2678090	hsa-miR-4801	CLIP-seq
MIRT2200021	hsa-miR-484	CLIP-seq
MIRT1963673	hsa-miR-492	CLIP-seq
MIRT2200022	hsa-miR-497	CLIP-seq

Gene ontology (GO)

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
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	18172500, 19182791
GO:0005515	Function	Protein binding	IPI	15467728, 18172500, 19182791, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18172500
GO:0005634	Component	Nucleus	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	19182791
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016605	Component	PML body	IDA	15467728
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031648	Process	Protein destabilization	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0044779	Process	Meiotic spindle checkpoint signaling	IMP	10935642
GO:0044818	Process	Mitotic G2/M transition checkpoint	IBA
GO:0044818	Process	Mitotic G2/M transition checkpoint	IMP	18172500, 19182791
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

Other IDs

• MIM: 605209
• HGNC: 20455
• e!Ensembl: ENSG00000072609

Protein

• UniProt ID: 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
  CRIVVDEKSGQVTLEDTSTSGTVINKLKVVKKQTCPLQTGDVIYLVYRKNEPEHNVAYLY
  ESLSEKQGMTQESFEANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTS
  TSDLFPTASASSTEPSPAGRERSSSCGSGGGGISPKGSGPSVASDEVSSFASALPDRKTA
  SFSSLEPQDQEDLEPVKKKMRGDGDLDLNGQLLVAQPRRNAQTVHEDVRAAAGKPDKMEE
  TLTCIICQDLLHDCVSLQPCMHTFCAACYSGWMERSSLCPTCRCPVERICKNHILNNLVE
  AYLIQHPDKSRSEEDVQSMDARNKITQDMLQPKVRRSFSDEEGSSEDLLELSDVDSESSD
  ISQPYVVCRQCPEYRRQAAQPPHCPAPEGEPGAPQALGDAPSTSVSLTTAVQDYVCPLQG
  SHALCTCCFQPMPDRRAEREQDPRVAPQQCAVCLQPFCHLYWGCTRTGCYGCLAPFCELN
  LGDKCLDGVLNNNSYESDILKNYLATRGLTWKNMLTESLVALQRGVFLLSDYRVTGDTVL
  CYCCGLRSFRELTYQYRQNIPASELPVAVTSRPDCYWGRNCRTQVKAHHAMKFNHICEQT
  RFKN

• Sequence length: 664

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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	25477232		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29069279		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	14694445	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	15471559	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15937956, 16502017, 31322269		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14694445, 17596595	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15138487, 18763281, 19182791, 20109344	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18335050	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16827108		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11948416, 25477232		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25065733	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17673375, 19634111, 29367628		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17786301		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17786301		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17550320	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15760919, 16502017, 21551253		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17201143, 18079053, 23873170, 24928946, 29069279, 29179506		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12810945	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17167178, 17201143, 18204436, 30562637, 33811727	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17201143, 18079053		★☆☆☆☆ Found in Text Mining only
Congenital absence of lung	Congenital lung agenesis	BEFREE	25477232		★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	16827108	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	17143476		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	19787208, 21792009, 22469813		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	17143476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21792009	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12376479		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12376479		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	12376479		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	16827108	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	16827108	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	12810945	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26542416, 29115660		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12538348		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	20705357		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25477232	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	15897551		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15937956, 16502017, 31322269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19787208, 21792009, 22469813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12376479		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11948416, 25477232		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17673375, 19634111, 29367628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	14695171, 15138487, 15201973, 16475678, 16827108, 18335050, 18763281, 20109344, 20300977, 21302620, 24510342, 24748501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12810945, 14612512, 15138487, 15937956, 16827108, 18079053, 19448676, 19634111, 20473935, 20855974, 21302620, 22337872, 25477232, 29115660, 31812083		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17786301		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15760919, 16502017, 19690386, 21551253		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17596595		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29115660		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	15937956, 23979918		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	21535891	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12810945, 15760919, 15897551, 15937956, 17201143, 17272309, 18335050, 18623126, 18763281, 19236379, 19448676, 19634111, 19690386, 20300977, 21302620, 21551253, 21999220, 22337872, 23873170, 25052224, 29115660, 31812083		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	16554732	Inhibit	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18623126, 20705357, 20855974, 25477232, 25828518		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	20705357		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17673375, 19634111, 29367628		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29367628	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32943033	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26690675		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	17604597, 22278416	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18623126, 19787237, 25065733, 25477232		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18623126		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19787237, 25065733, 25147921	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	18623126		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	25065733		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	14695171, 15138487, 18763281, 20109344, 20300977, 21302620, 24748501, 31812083		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15138487, 16827108, 18158559, 18763281, 19469003, 20109344, 24748501, 26769141, 37024798	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	15201973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15201973, 18763281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	18335050	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	26690675	Associate	★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	26690675		★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	19469003		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17971771	Associate	★☆☆☆☆ Found in Text Mining only