Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55159
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger and WD repeat domain 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFWD3
Synonyms (NCBI Gene) Gene synonyms aliases
FANCW, RNF201
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FANCW
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.1
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IBA 21873635
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:0005515 Function Protein binding IPI 19549727, 20173098, 21504906, 24126761, 25260751, 28575657, 28575658, 28691929
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614151 25539 ENSG00000168411
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia FANCONI ANEMIA, COMPLEMENTATION GROUP W rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
28691929, 28575657
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Cafe-au-lait spot Cafe au lait spots, multiple rs1057518792, rs1555613206, rs1555608663
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Renal hypoplasia Congenital hypoplasia of kidney ClinVar
Fanconi Anemia Fanconi anemia GenCC
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWAS
Associations from Text Mining
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