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Aliases for WDR72 Gene

Aliases for WDR72 Gene

  • WD Repeat Domain 72 2 3 5
  • AI2A3 3

External Ids for WDR72 Gene

Previous GeneCards Identifiers for WDR72 Gene

  • GC15M051595
  • GC15M053805
  • GC15M030638
  • GC15M053620
  • GC15M053960

Summaries for WDR72 Gene

Entrez Gene Summary for WDR72 Gene

  • This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GeneCards Summary for WDR72 Gene

WDR72 (WD Repeat Domain 72) is a Protein Coding gene. Diseases associated with WDR72 include Amelogenesis Imperfecta, Type Iia3 and Amelogenesis Imperfecta Hypomaturation Type. An important paralog of this gene is WDR7.

Gene Wiki entry for WDR72 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR72 Gene

Genomics for WDR72 Gene

Regulatory Elements for WDR72 Gene

Enhancers for WDR72 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around WDR72 on UCSC Golden Path with GeneCards custom track

Genomic Location for WDR72 Gene

53,513,741 bp from pter
53,762,878 bp from pter
249,138 bases
Minus strand

Genomic View for WDR72 Gene

Genes around WDR72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR72 Gene

Proteins for WDR72 Gene

  • Protein details for WDR72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    WD repeat-containing protein 72
    Protein Accession:
    Secondary Accessions:
    • Q7Z3I3
    • Q8N8X2

    Protein attributes for WDR72 Gene

    1102 amino acids
    Molecular mass:
    123425 Da
    Quaternary structure:
    No Data Available

neXtProt entry for WDR72 Gene

Proteomics data for WDR72 Gene at MOPED

Post-translational modifications for WDR72 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WDR72 Gene

No data available for DME Specific Peptides for WDR72 Gene

Domains & Families for WDR72 Gene

Gene Families for WDR72 Gene

Protein Domains for WDR72 Gene

Suggested Antigen Peptide Sequences for WDR72 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 8 WD repeats.
  • Contains 8 WD repeats.
genes like me logo Genes that share domains with WDR72: view

Function for WDR72 Gene

genes like me logo Genes that share phenotypes with WDR72: view

Human Phenotype Ontology for WDR72 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WDR72 Gene

MGI Knock Outs for WDR72:

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for WDR72 Gene

Localization for WDR72 Gene

Subcellular locations from

Jensen Localization Image for WDR72 Gene COMPARTMENTS Subcellular localization image for WDR72 gene
Compartment Confidence
endosome 2
mitochondrion 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for WDR72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20938048
genes like me logo Genes that share ontologies with WDR72: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for WDR72 Gene

Pathways & Interactions for WDR72 Gene

SuperPathways for WDR72 Gene

No Data Available

Interacting Proteins for WDR72 Gene

Gene Ontology (GO) - Biological Process for WDR72 Gene


No data available for Pathways by source and SIGNOR curated interactions for WDR72 Gene

Drugs & Compounds for WDR72 Gene

No Compound Related Data Available

Transcripts for WDR72 Gene

Unigene Clusters for WDR72 Gene

WD repeat domain 72:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WDR72 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^
SP1: - - - - - -
SP3: - -
SP4: -

ExUns: 24a · 24b · 24c · 24d

Relevant External Links for WDR72 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for WDR72 Gene

mRNA expression in normal human tissues for WDR72 Gene

mRNA differential expression in normal tissues according to GTEx for WDR72 Gene

This gene is overexpressed in Kidney - Cortex (x19.1), Liver (x12.9), and Thyroid (x11.8).

Protein differential expression in normal tissues from HIPED for WDR72 Gene

This gene is overexpressed in Lung (53.0) and NK cells (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for WDR72 Gene

SOURCE GeneReport for Unigene cluster for WDR72 Gene Hs.122125

genes like me logo Genes that share expression patterns with WDR72: view

Protein tissue co-expression partners for WDR72 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for WDR72 Gene

Orthologs for WDR72 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR72 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia WDR72 35
  • 88.36 (n)
  • 83.18 (a)
WDR72 36
  • 83 (a)
(Canis familiaris)
Mammalia WDR72 35
  • 89.41 (n)
  • 85.11 (a)
WDR72 36
  • 84 (a)
(Mus musculus)
Mammalia Wdr72 35
  • 81.3 (n)
  • 79.42 (a)
Wdr72 16
Wdr72 36
  • 78 (a)
(Pan troglodytes)
Mammalia WDR72 35
  • 99.33 (n)
  • 98.82 (a)
WDR72 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Wdr72 35
  • 80.97 (n)
  • 79.27 (a)
(Monodelphis domestica)
Mammalia WDR72 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia WDR72 36
  • 63 (a)
(Gallus gallus)
Aves WDR72 35
  • 68.45 (n)
  • 61.68 (a)
WDR72 36
  • 60 (a)
(Anolis carolinensis)
Reptilia WDR72 36
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr72 35
  • 63.66 (n)
  • 52.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rbcn-3B 36
  • 19 (a)
(Caenorhabditis elegans)
Secernentea rbc-2 36
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
Species with no ortholog for WDR72:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for WDR72 Gene

Gene Tree for WDR72 (if available)
Gene Tree for WDR72 (if available)

Paralogs for WDR72 Gene

Paralogs for WDR72 Gene

(1) SIMAP similar genes for WDR72 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with WDR72: view

Variants for WDR72 Gene

Sequence variations from dbSNP and Humsavar for WDR72 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs17730281 - 53,615,751(+) ATTGA(A/G)GTGCT nc-transcript-variant, reference, missense
rs16966320 - 53,615,709(+) CAAAG(A/C)AATTC nc-transcript-variant, reference, missense
rs35258188 - 53,705,141(+) ATCTT(G/T)AAGCC nc-transcript-variant, reference, missense
rs34123953 - 53,702,266(+) CAACT(G/T)TGGTC nc-transcript-variant, reference, missense
rs690346 - 53,716,648(+) CTCCA(C/T)GCACT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WDR72 Gene

Variant ID Type Subtype PubMed ID
dgv2383n71 CNV Gain 21882294
nsv833009 CNV Gain 17160897
esv2749709 CNV Deletion 23290073
nsv9267 CNV Loss 18304495
nsv904225 CNV Loss 21882294
esv275172 CNV Loss 21479260
nsv527474 CNV Loss 19592680
esv2673498 CNV Deletion 23128226
esv24308 CNV Loss 19812545
nsv904226 CNV Gain 21882294
dgv318n27 CNV Gain 19166990
nsv833010 CNV Gain 17160897
esv268411 CNV Insertion 20981092
esv274672 CNV Insertion 20981092
nsv510400 CNV Loss 20534489
esv272777 CNV Insertion 20981092
esv270160 CNV Insertion 20981092
esv2658727 CNV Deletion 23128226
esv23392 CNV Loss 19812545
nsv527020 CNV Loss 19592680
esv2347607 CNV Deletion 18987734
nsv457146 CNV Loss 19166990

Variation tolerance for WDR72 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.53; 98.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WDR72 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR72 Gene

Disorders for WDR72 Gene

MalaCards: The human disease database

(6) MalaCards diseases for WDR72 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iia3
  • amelogenesis imperfecta, hypomaturation type, iia3
amelogenesis imperfecta hypomaturation type
  • aih
amelogenesis imperfecta
  • aortic valve insufficiency
  • brachyrachia
dental enamel hypoplasia
  • enamel hypoplasia
- elite association - COSMIC cancer census association via MalaCards
Search WDR72 in MalaCards View complete list of genes associated with diseases


  • Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3) [MIM:613211]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269 PubMed:19853237}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WDR72

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with WDR72: view

No data available for Genatlas for WDR72 Gene

Publications for WDR72 Gene

  1. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. (PMID: 19853237) El-Sayed W. … Mighell A.J. (Am. J. Hum. Genet. 2009) 2 3 4 67
  2. WDR72 models of structure and function: a stage-specific regulator of enamel mineralization. (PMID: 25008349) Katsura K.A. … DenBesten P.K. (Matrix Biol. 2014) 2 3
  3. Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function. (PMID: 22126837) LeBlanc M. … Andreassen O.A. (J Psychiatr Res 2012) 3
  4. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PMID: 22797727) Okada Y. … Tanaka T. (Nat. Genet. 2012) 3
  5. A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature. (PMID: 23293580) Kuechler A. … LA1decke H.J. (Mol Syndromol 2012) 3

Products for WDR72 Gene

Sources for WDR72 Gene