Gene Gene information from NCBI Gene database.
Entrez ID 55159
Gene name Ring finger and WD repeat domain 3
Gene symbol RFWD3
Synonyms (NCBI Gene)
FANCWRNF201
Chromosome 16
Chromosome location 16q23.1
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1205970095 ->GG Pathogenic Coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant
rs1555524842 A>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
657
miRTarBase ID miRNA Experiments Reference
MIRT019540 hsa-miR-340-5p Sequencing 20371350
MIRT022290 hsa-miR-124-3p Microarray 18668037
MIRT024660 hsa-miR-215-5p Microarray 19074876
MIRT026221 hsa-miR-192-5p Microarray 19074876
MIRT051730 hsa-let-7c-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IDA 26474068, 28575657, 28575658
GO:0000724 Process Double-strand break repair via homologous recombination IMP 28691929
GO:0002039 Function P53 binding IPI 20173098
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 19549727, 20173098, 21504906, 24126761, 25260751, 28575657, 28575658, 28691929
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614151 25539 ENSG00000168411
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PCD5
Protein name E3 ubiquitin-protein ligase RFWD3 (EC 2.3.2.27) (RING finger and WD repeat domain-containing protein 3) (RING finger protein 201)
Protein function E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658, PubMed:33321094). Plays a key role in RPA-me
PDB 6CVZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 285 331 Ring finger domain Domain
Sequence
MAHEAMEYDVQVQLNHAEQQPAPAGMASSQGGPALLQPVPADVVSSQGVPSILQPAPAEV
ISSQATPPLLQPAPQLSVDLTEVEVLGEDTVENINPRTSEQHRQGSDGNHTIPASSLHSM
TNFISGLQRLHGMLEFLRPSSSNHSVGPMRTRRRVSASRRARAGGSQRTDSARLRAPLDA
YFQVSRTQPDLPATTYDSETRNPVSEELQVSSSSDSDSDSSAEYGGVVDQAEESGAVILE
EQLAGVSAEQEVTCIDGGKTLPKQPSPQKSEPLLPSASMDEEEGDTCTICLEQWTNAGDH
RLSALRCGHLFGYRCISTWLKGQVRKCPQCN
KKARHSDIVVLYARTLRALDTSEQERMKS
SLLKEQMLRKQAELESAQCRLQLQVLTDKCTRLQRRVQDLQKLTSHQSQNLQQPRGSQAW
VLSCSPSSQGQHKHKYHFQKTFTVSQAGNCRIMAYCDALSCLVISQPSPQASFLPGFGVK
MLSTANMKSSQYIPMHGKQIRGLAFSSYLRGLLLSASLDNTIKLTSLETNTVVQTYNAGR
PVWSCCWCLDEANYIYAGLANGSILVYDVRNTSSHVQELVAQKARCPLVSLSYMPRAASA
AFPYGGVLAGTLEDASFWEQKMDFSHWPHVLPLEPGGCIDFQTENSSRHCLVTYRPDKNH
TTIRSVLMEMSYRLDDTGNPICSCQPVHTFFGGPTCKLLTKNAIFQSPENDGNILVCTGD
EAANSALLWDAASGSLLQDLQTDQPVLDICPFEVNRNSYLATLTEKMVHIYKWE
Sequence length 774
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
34
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Fanconi anemia, complementation group W Pathogenic rs1555524842 RCV000515641
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of esophagus Uncertain significance rs1959201366 RCV005939167
Malignant tumor of urinary bladder Likely benign rs201236333 RCV005926722
RFWD3-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs77132945, rs776526678, rs549212476, rs138454127, rs372652567, rs202136713, rs148545931, rs146574678, rs138396009, rs141321984, rs150221303, rs1959201366, rs191155100, rs145714627, rs370695654
View all (2 more)
RCV003973220
RCV003953828
RCV003963630
RCV003936344
RCV003963388
RCV003926505
RCV003906331
RCV003973575
RCV003906366
RCV003963465
RCV003943698
RCV003403069
RCV003909098
RCV004756555
RCV004756553
RCV003896492
RCV003958139
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Hemolytic Associate 32866285
Carcinoma Non Small Cell Lung Associate 40523204
Fanconi Anemia Associate 28575657, 37036693
Lymphoma Non Hodgkin Associate 33951297
Neoplasms Stimulate 40523204
Primary Ovarian Insufficiency Associate 36732629