This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal tran... See more...

Aliases for WDR12 Gene

Aliases for WDR12 Gene

  • WD Repeat Domain 12 2 3 5
  • Ribosome Biogenesis Protein WDR12 3 4
  • WD Repeat-Containing Protein 12 3 4
  • YTM1 3

External Ids for WDR12 Gene

Previous GeneCards Identifiers for WDR12 Gene

  • GC02M201962
  • GC02M202469
  • GC02M203709
  • GC02M203947
  • GC02M203570
  • GC02M203453
  • GC02M195592

Summaries for WDR12 Gene

Entrez Gene Summary for WDR12 Gene

  • This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]

GeneCards Summary for WDR12 Gene

WDR12 (WD Repeat Domain 12) is a Protein Coding gene. Diseases associated with WDR12 include Robinow Syndrome, Autosomal Dominant 1 and Robinow Syndrome. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include ribonucleoprotein complex binding. An important paralog of this gene is WDR37.

UniProtKB/Swiss-Prot Summary for WDR12 Gene

  • Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.

Gene Wiki entry for WDR12 Gene

Additional gene information for WDR12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR12 Gene

Genomics for WDR12 Gene

GeneHancer (GH) Regulatory Elements for WDR12 Gene

Promoters and enhancers for WDR12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J203013 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -1.8 -1803 6.4 HNRNPK ZBTB40 EP300 ZSCAN5C SIN3A NRF1 POLR2G SP1 PHF8 JUND NBEAL1 NONHSAG030297.2 WDR12 CARF CYP20A1 BMPR2 piR-52079-119 RF00017-3406
GH02J202910 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.1 +103.1 103097 4.6 ZBTB40 ZNF217 EP300 NRF1 MYC POLR2G SP1 NCOR1 ZFX POLR2A CARF WDR12 NBEAL1 NOP58 ENSG00000272966 CYP20A1 RF00017-3406
GH02J202965 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.9 +49.0 48997 1.6 USF1 EP300 TOE1 MYC TAF9B BCL11A NCOR1 RELA ZNF316 MAFF piR-49713-010 NBEAL1 WDR12 CARF ICA1L lnc-CARF-1 RF00017-3406
GH02J202669 Enhancer 0.8 ENCODE dbSUPER 10.2 +344.6 344619 1.1 ZBTB40 ZSCAN5C ARNT BMI1 NFATC3 RFX5 TBX21 KLF5 ZNF217 TCF7 FAM117B CARF WDR12 ALS2 piR-57138-033 RF00994-549
GH02J202932 Enhancer 0.6 Ensembl ENCODE 11.1 +81.8 81825 1.4 STAT3 STAT1 FOS POLR2A CEBPB MYC 5MWI_A-103 NBEAL1 CARF WDR12 lnc-ICA1L-5 RF00017-3406
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR12

Top Transcription factor binding sites by QIAGEN in the WDR12 gene promoter:
  • AP-4
  • c-Myb
  • Egr-1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • MRF-2
  • NF-kappaB1
  • POU2F1
  • POU2F1a

Genomic Locations for WDR12 Gene

Genomic Locations for WDR12 Gene
chr2:202,874,782-203,014,798
(GRCh38/hg38)
Size:
140,017 bases
Orientation:
Minus strand
chr2:203,739,505-203,879,521
(GRCh37/hg19)
Size:
140,017 bases
Orientation:
Minus strand

Genomic View for WDR12 Gene

Genes around WDR12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR12 Gene

Proteins for WDR12 Gene

  • Protein details for WDR12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZL7-WDR12_HUMAN
    Recommended name:
    Ribosome biogenesis protein WDR12
    Protein Accession:
    Q9GZL7
    Secondary Accessions:
    • B3KPA9
    • Q96HU0
    • Q9NV80
    • Q9NYI8

    Protein attributes for WDR12 Gene

    Size:
    423 amino acids
    Molecular mass:
    47708 Da
    Quaternary structure:
    • Component of the PeBoW complex, composed of BOP1, PES1 and WDR12 (ECO:0000269 PubMed:16043514, ECO:0000269 PubMed:16738141, PubMed:17189298, ECO:0000269 PubMed:17353269). The complex is held together by BOP1, which interacts with PES1 via its N-terminal domain and with WDR12 via a high-affinity interaction between the seven-bladed beta-propeller domains of the 2 proteins. The PeBoW complex associates with the 66S pre-ribosome (By similarity). Interacts (via UBL domain) with MDN1 (via VWFA/MIDAS domain) (PubMed:26601951).

    Three dimensional structures from OCA and Proteopedia for WDR12 Gene

neXtProt entry for WDR12 Gene

Post-translational modifications for WDR12 Gene

  • Ubiquitination at Lys203
  • Modification sites at PhosphoSitePlus

Other Protein References for WDR12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WDR12 Gene

Domains & Families for WDR12 Gene

Gene Families for WDR12 Gene

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

Suggested Antigen Peptide Sequences for WDR12 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat domain 12, isoform CRA_a (Q53T99_HUMAN)
  • WD repeat-containing protein 12 (WDR12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZL7

UniProtKB/Swiss-Prot:

WDR12_HUMAN :
  • Belongs to the WD repeat WDR12/YTM1 family.
Family:
  • Belongs to the WD repeat WDR12/YTM1 family.
genes like me logo Genes that share domains with WDR12: view

Function for WDR12 Gene

Molecular function for WDR12 Gene

UniProtKB/Swiss-Prot Function:
Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
UniProtKB/Swiss-Prot Induction:
By MYC.

Phenotypes From GWAS Catalog for WDR12 Gene

Gene Ontology (GO) - Molecular Function for WDR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16043514
GO:0043021 ribonucleoprotein complex binding IEA --
genes like me logo Genes that share ontologies with WDR12: view
genes like me logo Genes that share phenotypes with WDR12: view

Animal Models for WDR12 Gene

MGI Knock Outs for WDR12:
  • Wdr12 Wdr12<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for WDR12 Gene

miRTarBase miRNAs that target WDR12

Clone Products

  • Addgene plasmids for WDR12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WDR12 Gene

Localization for WDR12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR12 Gene

Nucleus, nucleolus. Nucleus, nucleoplasm.

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 WDR12 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA,IEA 16043514
GO:0030687 preribosome, large subunit precursor IEA,IDA 17353269
GO:0070545 PeBoW complex IDA,IBA 16043514
genes like me logo Genes that share ontologies with WDR12: view

Pathways & Interactions for WDR12 Gene

genes like me logo Genes that share pathways with WDR12: view

Gene Ontology (GO) - Biological Process for WDR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP 16043514
GO:0000466 maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP 16043514
GO:0006364 rRNA processing TAS --
GO:0007219 Notch signaling pathway IEA --
GO:0008283 cell proliferation IMP 16043514
genes like me logo Genes that share ontologies with WDR12: view

No data available for SIGNOR curated interactions for WDR12 Gene

Drugs & Compounds for WDR12 Gene

No Compound Related Data Available

Transcripts for WDR12 Gene

mRNA/cDNA for WDR12 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for WDR12

Alternative Splicing Database (ASD) splice patterns (SP) for WDR12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for WDR12 Gene

GeneLoc Exon Structure for
WDR12

Expression for WDR12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR12 Gene

Protein differential expression in normal tissues from HIPED for WDR12 Gene

This gene is overexpressed in CD8 Tcells (11.0), Testis (8.2), Peripheral blood mononuclear cells (6.4), and Lung (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR12 Gene



Protein tissue co-expression partners for WDR12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR12

SOURCE GeneReport for Unigene cluster for WDR12 Gene:

Hs.73291

Evidence on tissue expression from TISSUES for WDR12 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with WDR12: 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 WDR12 Gene

Orthologs for WDR12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WDR12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR12 31 30
  • 99.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR12 31 30
  • 92.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDR12 31 30
  • 92.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr12 17 31 30
  • 89.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WDR12 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr12 30
  • 88.49 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves WDR12 31 30
  • 78.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR12 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr12 30
  • 74.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6134 30
zebrafish
(Danio rerio)
Actinopterygii wdr12 31 30
  • 73.22 (n)
OneToOne
wufb24f09 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4439 30
African malaria mosquito
(Anopheles gambiae)
Insecta WDR12_ANOGA 30
  • 51.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6724 31 32 30
  • 50.46 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-345 31 30
  • 44.87 (n)
ManyToMany
F55F8.5 32
  • 31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07425g 30
  • 45.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YTM1 33 31 30
  • 45.12 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER337W 30
  • 42.91 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G15550 30
  • 47 (n)
rice
(Oryza sativa)
Liliopsida Os07g0600400 30
  • 46.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC890.04c 30
  • 42.69 (n)
Species where no ortholog for WDR12 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 WDR12 Gene

ENSEMBL:
Gene Tree for WDR12 (if available)
TreeFam:
Gene Tree for WDR12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR12: view image

Paralogs for WDR12 Gene

Paralogs for WDR12 Gene

Pseudogenes.org Pseudogenes for WDR12 Gene

genes like me logo Genes that share paralogs with WDR12: view

Variants for WDR12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR12 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs35212307 - p.Ile75Val
rs751438871 - p.Tyr89Cys
VAR_012863 - p.Met72Val
VAR_012865 - p.Glu286Gly

Additional dbSNP identifiers (rs#s) for WDR12 Gene

Structural Variations from Database of Genomic Variants (DGV) for WDR12 Gene

Variant ID Type Subtype PubMed ID
esv3594003 CNV gain 21293372
nsv1001799 CNV gain 25217958

Variation tolerance for WDR12 Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR12 Gene

Disorders for WDR12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for WDR12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
robinow syndrome, autosomal dominant 1
  • drs1
robinow syndrome
  • robinow dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search WDR12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR12

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 WDR12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR12 Gene

Publications for WDR12 Gene

  1. Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit. (PMID: 17353269) Rohrmoser M … Eick D (Molecular and cellular biology 2007) 2 3 4 54
  2. Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation. (PMID: 16043514) Hölzel M … Eick D (The Journal of cell biology 2005) 2 3 4 54
  3. The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin. (PMID: 26601951) Romes EM … Stanley RE (The Journal of biological chemistry 2016) 3 4 54
  4. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 41 54
  5. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. (PMID: 20971364) Ripatti S … Kathiresan S (Lancet (London, England) 2010) 3 41 54

Products for WDR12 Gene

Sources for WDR12 Gene