Aliases for WDR46 Gene

Aliases for WDR46 Gene

  • WD Repeat Domain 46 2 3 5
  • WD Repeat-Containing Protein BING4 3 4
  • WD Repeat-Containing Protein 46 3 4
  • C6orf11 3 4
  • BING4 3 4
  • Chromosome 6 Open Reading Frame 11 2
  • FP221 3
  • UTP7 3

External Ids for WDR46 Gene

Previous HGNC Symbols for WDR46 Gene

  • C6orf11

Previous GeneCards Identifiers for WDR46 Gene

  • GC06M033355
  • GC06Mc33315
  • GC06M033246
  • GC06M032988

Summaries for WDR46 Gene

GeneCards Summary for WDR46 Gene

WDR46 (WD Repeat Domain 46) is a Protein Coding gene. Diseases associated with WDR46 include Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression.

UniProtKB/Swiss-Prot Summary for WDR46 Gene

  • Scaffold component of the nucleolar structure. Required for localization of DDX21 and NCL to the granular compartment of the nucleolus.

Gene Wiki entry for WDR46 Gene

Additional gene information for WDR46 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR46 Gene

Genomics for WDR46 Gene

GeneHancer (GH) Regulatory Elements for WDR46 Gene

Promoters and enhancers for WDR46 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 WDR46 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR46

Top Transcription factor binding sites by QIAGEN in the WDR46 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CUTL1
  • HNF-4alpha1
  • HNF-4alpha2
  • Olf-1
  • p53
  • Sp1
  • YY1

Genomic Locations for WDR46 Gene

Genomic Locations for WDR46 Gene
chr6:33,279,103-33,289,527
(GRCh38/hg38)
Size:
10,425 bases
Orientation:
Minus strand
chr6:33,246,880-33,257,304
(GRCh37/hg19)
Size:
10,425 bases
Orientation:
Minus strand

Genomic View for WDR46 Gene

Genes around WDR46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR46 Gene

Proteins for WDR46 Gene

  • Protein details for WDR46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15213-WDR46_HUMAN
    Recommended name:
    WD repeat-containing protein 46
    Protein Accession:
    O15213
    Secondary Accessions:
    • A6NDP5
    • Q5HYZ0
    • Q5STK5
    • Q5STR3

    Protein attributes for WDR46 Gene

    Size:
    610 amino acids
    Molecular mass:
    68071 Da
    Quaternary structure:
    • Interacts with DDX21, NCL, NOP2 and EBNA1BP2.

neXtProt entry for WDR46 Gene

Post-translational modifications for WDR46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WDR46 Gene

No data available for DME Specific Peptides for WDR46 Gene

Domains & Families for WDR46 Gene

Gene Families for WDR46 Gene

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

Protein Domains for WDR46 Gene

Suggested Antigen Peptide Sequences for WDR46 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat domain 46 (A2AB87_HUMAN)
  • WD repeat domain 46 (A2ABB6_HUMAN)
  • cDNA, FLJ96697 (B0UZZ8_HUMAN)
  • WD repeat domain 46 (Q5HYZ1_HUMAN)
  • WD repeat-containing protein BING4 (WDR46_HUMAN)
genes like me logo Genes that share domains with WDR46: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WDR46 Gene

Function for WDR46 Gene

Molecular function for WDR46 Gene

UniProtKB/Swiss-Prot Function:
Scaffold component of the nucleolar structure. Required for localization of DDX21 and NCL to the granular compartment of the nucleolus.

Phenotypes From GWAS Catalog for WDR46 Gene

Gene Ontology (GO) - Molecular Function for WDR46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with WDR46: view
genes like me logo Genes that share phenotypes with WDR46: view

Animal Model Products

CRISPR Products

miRNA for WDR46 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR46

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR46 Gene

Localization for WDR46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR46 Gene

Nucleus, nucleolus.

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 WDR46 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for WDR46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA 21873635
GO:0032040 small-subunit processome IBA 21873635
genes like me logo Genes that share ontologies with WDR46: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WDR46 Gene

Pathways & Interactions for WDR46 Gene

genes like me logo Genes that share pathways with WDR46: view

Gene Ontology (GO) - Biological Process for WDR46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0006364 rRNA processing TAS --
genes like me logo Genes that share ontologies with WDR46: view

No data available for SIGNOR curated interactions for WDR46 Gene

Drugs & Compounds for WDR46 Gene

No Compound Related Data Available

Transcripts for WDR46 Gene

mRNA/cDNA for WDR46 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 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 WDR46

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR46 Gene

No ASD Table

Relevant External Links for WDR46 Gene

GeneLoc Exon Structure for
WDR46

Expression for WDR46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WDR46 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.7), Blymphocyte (9.1), CD8 Tcells (7.8), Pancreas (7.4), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR46 Gene



Protein tissue co-expression partners for WDR46 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR46

SOURCE GeneReport for Unigene cluster for WDR46 Gene:

Hs.520063

Evidence on tissue expression from TISSUES for WDR46 Gene

  • Nervous system(4.7)
  • Lung(4.5)
  • Liver(4.3)
  • Skin(3.5)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with WDR46: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR46 Gene

Orthologs for WDR46 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WDR46 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR46 31 30
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C6ORF11 31
  • 89 (a)
OneToOne
WDR46 30
  • 87.03 (n)
dog
(Canis familiaris)
Mammalia WDR46 31 30
  • 86.45 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr46 30
  • 84.68 (n)
mouse
(Mus musculus)
Mammalia Wdr46 17 31 30
  • 83.5 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR46 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr46 30
  • 56.78 (n)
Str.7166 30
zebrafish
(Danio rerio)
Actinopterygii wdr46 31 31 30
  • 58.29 (n)
OneToMany
zgc63793 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004190 30
  • 53.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2260 31 30
  • 52.35 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea wdr-46 31 30
  • 52.78 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09262g 30
  • 50.98 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL034W 30
  • 50.52 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP7 33 31 30
  • 47.1 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G10530 30
  • 48.54 (n)
rice
(Oryza sativa)
Liliopsida Os01g0183100 30
  • 49.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01502 30
  • 51.23 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC959.03c 30
  • 48.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for WDR46 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for WDR46 Gene

ENSEMBL:
Gene Tree for WDR46 (if available)
TreeFam:
Gene Tree for WDR46 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR46: view image

Paralogs for WDR46 Gene

No data available for Paralogs for WDR46 Gene

Variants for WDR46 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR46 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs14398 - p.Val341Ala
rs3130257 - p.Thr94Ala
rs34704405 - p.Ser124Tyr

Additional dbSNP identifiers (rs#s) for WDR46 Gene

Structural Variations from Database of Genomic Variants (DGV) for WDR46 Gene

Variant ID Type Subtype PubMed ID
dgv10609n54 CNV loss 21841781
esv2731890 CNV deletion 23290073
esv29761 CNV loss 19812545
esv3567594 CNV deletion 23714750
esv3608627 CNV loss 21293372
esv3608628 CNV loss 21293372
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv5249 CNV deletion 18451855
nsv830634 CNV loss 17160897
nsv830635 CNV loss 17160897
nsv970109 CNV duplication 23825009

Variation tolerance for WDR46 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.34; 81.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR46 Gene

Human Gene Mutation Database (HGMD)
WDR46
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR46

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR46 Gene

Disorders for WDR46 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WDR46 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search WDR46 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR46

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 WDR46: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR46 Gene

Publications for WDR46 Gene

  1. TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC. (PMID: 9545376) Herberg JA … Trowsdale J (Journal of molecular biology 1998) 2 3 4 54
  2. Dynamics of WD-repeat containing proteins in SSU processome components. (PMID: 24754225) Wada K … Horigome T (Biochemistry and cell biology = Biochimie et biologie cellulaire 2014) 2 3 54
  3. Nucleolar scaffold protein, WDR46, determines the granular compartmental localization of nucleolin and DDX21. (PMID: 23848194) Hirai Y … Takeyasu K (Genes to cells : devoted to molecular & cellular mechanisms 2013) 3 4 54
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41 54
  5. 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

Products for WDR46 Gene

Sources for WDR46 Gene