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Aliases for RFWD2 Gene

Aliases for RFWD2 Gene

  • Ring Finger And WD Repeat Domain 2 2 3 5
  • Ring Finger And WD Repeat Domain 2, E3 Ubiquitin Protein Ligase 2 3
  • Constitutive Photomorphogenesis Protein 1 Homolog 3 4
  • RING Finger Protein 200 3 4
  • RNF200 3 4
  • COP1 3 4
  • Constitutive Photomorphogenic Protein 1 (Arabidopsis) 2
  • RING Finger And WD Repeat Domain Protein 2 4
  • Constitutive Photomorphogenic Protein 1 3
  • E3 Ubiquitin-Protein Ligase RFWD2 3
  • Putative Ubiquitin Ligase COP1 3
  • EC 6.3.2.- 4
  • HCOP1 4

External Ids for RFWD2 Gene

Previous GeneCards Identifiers for RFWD2 Gene

  • GC01M172647
  • GC01M174180
  • GC01M147140

Summaries for RFWD2 Gene

GeneCards Summary for RFWD2 Gene

RFWD2 (Ring Finger And WD Repeat Domain 2) is a Protein Coding gene. Among its related pathways are p53 pathway (Pathway Interaction Database) and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is RBBP7.

UniProtKB/Swiss-Prot for RFWD2 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and proteasomal degradation, leading to AKT activation and promotion of cell survival. Ubiquitinates MTA1 leading to its proteasomal degradation.

Gene Wiki entry for RFWD2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFWD2 Gene

Genomics for RFWD2 Gene

Regulatory Elements for RFWD2 Gene

Enhancers for RFWD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around RFWD2 on UCSC Golden Path with GeneCards custom track

Promoters for RFWD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RFWD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RFWD2 Gene

Chromosome:
1
Start:
175,944,826 bp from pter
End:
176,207,493 bp from pter
Size:
262,668 bases
Orientation:
Minus strand

Genomic View for RFWD2 Gene

Genes around RFWD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFWD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFWD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFWD2 Gene

Proteins for RFWD2 Gene

  • Protein details for RFWD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHY2-RFWD2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RFWD2
    Protein Accession:
    Q8NHY2
    Secondary Accessions:
    • E9PKI0
    • Q504W6
    • Q6H103
    • Q9H6L7
    • X5D9B4

    Protein attributes for RFWD2 Gene

    Size:
    731 amino acids
    Molecular mass:
    80474 Da
    Quaternary structure:
    • Homodimer. Homodimerization is mediated by the coiled coil domain. Component of the DCX DET1-COP1 ubiquitin ligase complex at least composed of RBX1, DET1, DDB1, CUL4A and COP1. Isoform 2 does not interact with CUL4A but still binds to RBX1, suggesting that the interaction may be mediated by another cullin protein. Isoform 1 and isoform 2 interact with CUL5 but not with CUL1, CUL2 not CUL3. Interacts with bZIP transcription factors JUN, JUNB and JUND but not with FOS, ATF2 nor XBP1. Interacts with p53 (TP53). Interacts with COPS6; this interaction stabilizes RFWD2 through reducing its auto-ubiquitination and decelerating its turnover rate. Interacts with SFN; this interaction leads to SFN degradation. Isoform 4 forms heterodimers with isoform 1, preventing its association with DET1. Interacts with p53/TP53 and MTA1.

    Three dimensional structures from OCA and Proteopedia for RFWD2 Gene

    Alternative splice isoforms for RFWD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFWD2 Gene

Post-translational modifications for RFWD2 Gene

  • Autoubiquitinated. MTA1 destabilizes it by promoting its autoubiquitination.
  • Ubiquitination at Lys 629
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RFWD2 Gene

Domains & Families for RFWD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NHY2

UniProtKB/Swiss-Prot:

RFWD2_HUMAN :
  • The RING finger domain, in addition to its role in ubiquitination, functions as a structural scaffold to bring two clusters of positive-charged residues within spatial proximity to mimic a bipartite nuclear localization signal (NLS).
  • Belongs to the COP1 family.
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING finger domain, in addition to its role in ubiquitination, functions as a structural scaffold to bring two clusters of positive-charged residues within spatial proximity to mimic a bipartite nuclear localization signal (NLS).
Family:
  • Belongs to the COP1 family.
Similarity:
  • Contains 1 RING-type zinc finger.
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with RFWD2: view

Function for RFWD2 Gene

Molecular function for RFWD2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and proteasomal degradation, leading to AKT activation and promotion of cell survival. Ubiquitinates MTA1 leading to its proteasomal degradation.
UniProtKB/Swiss-Prot Induction:
By p53/TP53.

Enzyme Numbers (IUBMB) for RFWD2 Gene

Gene Ontology (GO) - Molecular Function for RFWD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 19805145
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0061630 ubiquitin protein ligase activity IMP 19805145
genes like me logo Genes that share ontologies with RFWD2: view
genes like me logo Genes that share phenotypes with RFWD2: view

Animal Models for RFWD2 Gene

MGI Knock Outs for RFWD2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RFWD2 Gene

Localization for RFWD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFWD2 Gene

Nucleus speckle. Cytoplasm. Note=In the nucleus, it forms nuclear speckles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFWD2 Gene COMPARTMENTS Subcellular localization image for RFWD2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RFWD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RFWD2: view

Pathways & Interactions for RFWD2 Gene

genes like me logo Genes that share pathways with RFWD2: view

UniProtKB/Swiss-Prot Q8NHY2-RFWD2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for RFWD2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RFWD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010212 response to ionizing radiation IDA 19805145
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 19805145
genes like me logo Genes that share ontologies with RFWD2: view

Drugs & Compounds for RFWD2 Gene

(3) Drugs for RFWD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for RFWD2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with RFWD2: view

Transcripts for RFWD2 Gene

Unigene Clusters for RFWD2 Gene

Ring finger and WD repeat domain 2, E3 ubiquitin protein ligase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFWD2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2: - -
SP3: -

Relevant External Links for RFWD2 Gene

GeneLoc Exon Structure for
RFWD2
ECgene alternative splicing isoforms for
RFWD2

Expression for RFWD2 Gene

mRNA expression in normal human tissues for RFWD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RFWD2 Gene

This gene is overexpressed in Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for RFWD2 Gene

This gene is overexpressed in Placenta (38.3), Pancreas (11.2), Fetal ovary (10.7), and Platelet (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RFWD2 Gene



Protein tissue co-expression partners for RFWD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RFWD2 Gene:

RFWD2

SOURCE GeneReport for Unigene cluster for RFWD2 Gene:

Hs.523744

mRNA Expression by UniProt/SwissProt for RFWD2 Gene:

Q8NHY2-RFWD2_HUMAN
Tissue specificity: Ubiquitously expressed at low level. Expressed at higher level in testis, placenta, skeletal muscle and heart.
genes like me logo Genes that share expression patterns with RFWD2: view

Primer Products

Orthologs for RFWD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFWD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RFWD2 34
  • 94.16 (n)
  • 97.95 (a)
RFWD2 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFWD2 34
  • 92.16 (n)
  • 94.94 (a)
RFWD2 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfwd2 34
  • 92.66 (n)
  • 97.81 (a)
Rfwd2 16
Rfwd2 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RFWD2 34
  • 99.64 (n)
  • 100 (a)
RFWD2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfwd2 34
  • 92.76 (n)
  • 99.31 (a)
oppossum
(Monodelphis domestica)
Mammalia RFWD2 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFWD2 35
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFWD2 34
  • 83.03 (n)
  • 93.54 (a)
RFWD2 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFWD2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfwd2 34
  • 78.95 (n)
  • 91.73 (a)
Str.6916 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5221 34
zebrafish
(Danio rerio)
Actinopterygii rfwd2 34
  • 73.53 (n)
  • 85.56 (a)
rfwd2 35
  • 83 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HAT2 35
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons COP1 34
  • 52.44 (n)
  • 44.58 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.8969 34
rice
(Oryza sativa)
Liliopsida Os.3433 34
Os02g0771100 34
  • 52.47 (n)
  • 45.2 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6275 34
Species where no ortholog for RFWD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RFWD2 Gene

ENSEMBL:
Gene Tree for RFWD2 (if available)
TreeFam:
Gene Tree for RFWD2 (if available)

Paralogs for RFWD2 Gene

Paralogs for RFWD2 Gene

Pseudogenes.org Pseudogenes for RFWD2 Gene

genes like me logo Genes that share paralogs with RFWD2: view

Variants for RFWD2 Gene

Sequence variations from dbSNP and Humsavar for RFWD2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs15242 -- 175,945,046(+) CCCAT(A/G)ATGAC utr-variant-3-prime
rs501142 -- 176,187,056(+) AAAAA(C/T)TACTA intron-variant
rs553852 -- 176,149,602(+) AAACA(A/T)CTGAA intron-variant
rs598177 -- 176,160,774(+) aacaa(C/T)agatg intron-variant
rs598855 -- 176,172,730(-) AATGT(C/T)TTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RFWD2 Gene

Variant ID Type Subtype PubMed ID
dgv39e201 CNV deletion 23290073
dgv40e201 CNV deletion 23290073
esv1757113 CNV deletion 17803354
esv2576730 CNV deletion 19546169
esv2719684 CNV deletion 23290073
esv2719740 CNV deletion 23290073
esv2719751 CNV deletion 23290073
esv2719762 CNV deletion 23290073
esv3578282 CNV loss 25503493
esv3587996 CNV loss 21293372
esv3587998 CNV loss 21293372
esv3890782 CNV loss 25118596
nsv1122422 CNV deletion 24896259
nsv483037 CNV gain 15286789
nsv548246 CNV loss 21841781
nsv8558 CNV loss 18304495
nsv947452 CNV duplication 23825009

Variation tolerance for RFWD2 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFWD2 Gene

Human Gene Mutation Database (HGMD)
RFWD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFWD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFWD2 Gene

Disorders for RFWD2 Gene

Relevant External Links for RFWD2

Genetic Association Database (GAD)
RFWD2
Human Genome Epidemiology (HuGE) Navigator
RFWD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFWD2

No disorders were found for RFWD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RFWD2 Gene

Publications for RFWD2 Gene

  1. E3 ubiquitin ligase COP1 regulates the stability and functions of MTA1. (PMID: 19805145) Li D.Q. … Kumar R. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 22 65
  2. Characterization of human constitutive photomorphogenesis protein 1, a RING finger ubiquitin ligase that interacts with Jun transcription factors and modulates their transcriptional activity. (PMID: 12615916) Bianchi E. … Pardi R. (J. Biol. Chem. 2003) 3 4 22 65
  3. An initial biochemical and cell biological characterization of the mammalian homologue of a central plant developmental switch, COP1. (PMID: 12466024) Yi C. … Deng X.-W. (BMC Cell Biol. 2002) 3 4 22 65
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3 4 65
  5. COP9 signalosome subunit 6 stabilizes COP1, which functions as an E3 ubiquitin ligase for 14-3-3sigma. (PMID: 21625211) Choi H.H. … Lee M.H. (Oncogene 2011) 3 4 65

Products for RFWD2 Gene

Sources for RFWD2 Gene

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