This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011] See more...

Aliases for WDR20 Gene

Aliases for WDR20 Gene

  • WD Repeat Domain 20 2 3 5
  • WD Repeat-Containing Protein 20 3 4
  • Protein DMR 4
  • DMR 3

External Ids for WDR20 Gene

Previous GeneCards Identifiers for WDR20 Gene

  • GC14P096421
  • GC14P100596
  • GC14P101675
  • GC14P102606
  • GC14P082785
  • GC14P102146
  • GC14P102147
  • GC14P103525
  • GC14P103755
  • GC14P103947
  • GC14P102252
  • GC14P102286
  • GC14P102461
  • GC14P102632
  • GC14P102801
  • GC14P102979
  • GC14P103170
  • GC14P103363

Summaries for WDR20 Gene

Entrez Gene Summary for WDR20 Gene

  • This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

GeneCards Summary for WDR20 Gene

WDR20 (WD Repeat Domain 20) is a Protein Coding gene. Diseases associated with WDR20 include Cyclotropia and Bacterial Esophagitis. Among its related pathways are Metabolism of proteins and Deubiquitination. An important paralog of this gene is DMWD.

UniProtKB/Swiss-Prot Summary for WDR20 Gene

  • Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12 (PubMed:20147737, PubMed:27373336). Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic center of the enzyme (PubMed:27373336).

Additional gene information for WDR20 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR20 Gene

Genomics for WDR20 Gene

GeneHancer (GH) Regulatory Elements for WDR20 Gene

Promoters and enhancers for WDR20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR20

Top Transcription factor binding sites by QIAGEN in the WDR20 gene promoter:
  • CREB
  • deltaCREB
  • Egr-4
  • Ik-1
  • MyoD
  • Pax-4a
  • Pbx1a
  • STAT1

Genomic Locations for WDR20 Gene

Genomic Locations for WDR20 Gene
chr14:102,139,503-102,224,847
(GRCh38/hg38)
Size:
85,345 bases
Orientation:
Plus strand
chr14:102,605,840-102,691,184
(GRCh37/hg19)
Size:
85,345 bases
Orientation:
Plus strand

Genomic View for WDR20 Gene

Genes around WDR20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR20 Gene

Proteins for WDR20 Gene

  • Protein details for WDR20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBZ3-WDR20_HUMAN
    Recommended name:
    WD repeat-containing protein 20
    Protein Accession:
    Q8TBZ3
    Secondary Accessions:
    • B4DN18
    • E7EUY8
    • F8W9S4
    • G3V2F8
    • G3V5R0
    • H0YJJ1
    • Q86TU2
    • Q8NCN7
    • Q8WXX2
    • Q9UF86

    Protein attributes for WDR20 Gene

    Size:
    569 amino acids
    Molecular mass:
    62893 Da
    Quaternary structure:
    • Interacts with USP12 (PubMed:20147737, PubMed:27373336). Component of the USP12/WDR20/WDR48 deubiquitinating complex (PubMed:20147737, PubMed:27373336). Interacts with USP46 (PubMed:20147737).
    SequenceCaution:
    • Sequence=AAL56014.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WDR20 Gene

    Alternative splice isoforms for WDR20 Gene

neXtProt entry for WDR20 Gene

Post-translational modifications for WDR20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WDR20 Gene

Domains & Families for WDR20 Gene

Gene Families for WDR20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for WDR20 Gene

Suggested Antigen Peptide Sequences for WDR20 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ31768 fis, clone NT2RI2007891, highly similar to WD repeat protein 20 (B3KPG5_HUMAN)
  • cDNA FLJ33659 fis, clone BRAMY2026300, highly similar to WD repeat protein 20 (B3KR43_HUMAN)
  • WDR20 protein (Q8NCN7_HUMAN)
  • Protein DMR (WDR20_HUMAN)
genes like me logo Genes that share domains with WDR20: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WDR20 Gene

Function for WDR20 Gene

Molecular function for WDR20 Gene

UniProtKB/Swiss-Prot Function:
Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12 (PubMed:20147737, PubMed:27373336). Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic center of the enzyme (PubMed:27373336).

Phenotypes From GWAS Catalog for WDR20 Gene

Gene Ontology (GO) - Molecular Function for WDR20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19615732
genes like me logo Genes that share ontologies with WDR20: view
genes like me logo Genes that share phenotypes with WDR20: view

Animal Model Products

CRISPR Products

miRNA for WDR20 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR20

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR20 Gene

Localization for WDR20 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR20 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for WDR20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with WDR20: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for WDR20 Gene

Pathways & Interactions for WDR20 Gene

genes like me logo Genes that share pathways with WDR20: view

Pathways by source for WDR20 Gene

Gene Ontology (GO) - Biological Process for WDR20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016579 protein deubiquitination TAS --
genes like me logo Genes that share ontologies with WDR20: view

No data available for SIGNOR curated interactions for WDR20 Gene

Drugs & Compounds for WDR20 Gene

No Compound Related Data Available

Transcripts for WDR20 Gene

mRNA/cDNA for WDR20 Gene

37 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR20

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR20 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c ·
SP1: - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - - - - - - - - - - - - - - -
SP14: - - - - - - - -
SP15: - - - - - - -
SP16: - - - - -
SP17: - - - -
SP18: - - - - - - - - - - - -
SP19: - -
SP20: - - - - - - - - - - - - - - - - - -
SP21: - - - - - - - - - - - - -

ExUns: 13d · 13e · 13f · 13g · 13h ^ 14 ^ 15 ^ 16
SP1: - - - - -
SP2:
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - - - - -
SP21:

Relevant External Links for WDR20 Gene

GeneLoc Exon Structure for
WDR20

Expression for WDR20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR20 Gene

Protein differential expression in normal tissues from HIPED for WDR20 Gene

This gene is overexpressed in Platelet (26.0), Frontal cortex (8.6), Fetal Brain (8.1), and NK cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR20 Gene



Protein tissue co-expression partners for WDR20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR20

SOURCE GeneReport for Unigene cluster for WDR20 Gene:

Hs.36859

Evidence on tissue expression from TISSUES for WDR20 Gene

  • Liver(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with WDR20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR20 Gene

Orthologs for WDR20 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR20 31 30
  • 99.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr20a 31
  • 98 (a)
OneToMany
Wdr20 17 30
  • 93.5 (n)
Wdr20b 31
  • 93 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia WDR20 31
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR20 31
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr20 30
  • 93.98 (n)
cow
(Bos Taurus)
Mammalia WDR20 31 30
  • 89.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR20 31 30
  • 87.89 (n)
OneToOne
chicken
(Gallus gallus)
Aves WDR20 31 30
  • 88.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR20 31
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr20 30
  • 82.86 (n)
Str.15335 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12032 30
zebrafish
(Danio rerio)
Actinopterygii wdr20a 31
  • 84 (a)
OneToMany
si:dkey-241l7.1 30
  • 75.59 (n)
wdr20b 31
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6420 31 30
  • 55.97 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-22 30
  • 49.64 (n)
wdr-20 31
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for WDR20 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • 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)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WDR20 Gene

ENSEMBL:
Gene Tree for WDR20 (if available)
TreeFam:
Gene Tree for WDR20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR20: view image

Paralogs for WDR20 Gene

Paralogs for WDR20 Gene

(2) SIMAP similar genes for WDR20 Gene using alignment to 8 proteins:

  • WDR20_HUMAN
  • B3KPG5_HUMAN
  • B3KR43_HUMAN
  • F5H8E6_HUMAN
  • G3V5V2_HUMAN
  • H0YK31_HUMAN
  • H0YKE8_HUMAN
  • H0YNU0_HUMAN
genes like me logo Genes that share paralogs with WDR20: view

Variants for WDR20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR20 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs12888595 - p.Gly444Cys
rs17852545 - p.Pro159His

Additional dbSNP identifiers (rs#s) for WDR20 Gene

Structural Variations from Database of Genomic Variants (DGV) for WDR20 Gene

Variant ID Type Subtype PubMed ID
dgv25n68 CNV loss 17160897
esv22037 CNV gain 19812545
esv2665920 CNV deletion 23128226
esv2668977 CNV deletion 23128226
esv2669943 CNV deletion 23128226
esv2678767 CNV deletion 23128226
esv3552075 CNV deletion 23714750
esv3552076 CNV deletion 23714750
esv3635544 CNV loss 21293372
esv3635545 CNV loss 21293372
esv3635546 CNV loss 21293372
esv3635547 CNV gain 21293372
nsv1071172 CNV deletion 25765185
nsv1429 CNV deletion 18451855
nsv473296 CNV novel sequence insertion 20440878
nsv512376 CNV loss 21212237
nsv565947 CNV gain 21841781
nsv819548 CNV loss 19587683

Variation tolerance for WDR20 Gene

Residual Variation Intolerance Score: 12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 32.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR20

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR20 Gene

Disorders for WDR20 Gene

MalaCards: The human disease database

(15) MalaCards diseases for WDR20 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search WDR20 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with WDR20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR20 Gene

Publications for WDR20 Gene

  1. Allosteric Activation of Ubiquitin-Specific Proteases by β-Propeller Proteins UAF1 and WDR20. (PMID: 27373336) Li H … Zheng N (Molecular cell 2016) 3 4 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. WDR20 regulates activity of the USP12 x UAF1 deubiquitinating enzyme complex. (PMID: 20147737) Kee Y … D'Andrea AD (The Journal of biological chemistry 2010) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for WDR20 Gene

Sources for WDR20 Gene