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Aliases for WDR72 Gene

Aliases for WDR72 Gene

  • WD Repeat Domain 72 2 3
  • AI2A3 3 6
  • WD Repeat-Containing Protein 72 3

External Ids for WDR72 Gene

Previous GeneCards Identifiers for WDR72 Gene

  • GC15M051595
  • GC15M053805
  • GC15M030638

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

Genomic Location for WDR72 Gene

Start:
53,513,741 bp from pter
End:
53,762,878 bp from pter
Size:
249,138 bases
Orientation:
Minus strand

Genomic View for WDR72 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q3MJ13-WDR72_HUMAN
    Recommended name:
    WD repeat-containing protein 72
    Protein Accession:
    Q3MJ13
    Secondary Accessions:
    • Q7Z3I3
    • Q8N8X2

    Protein attributes for WDR72 Gene

    Size:
    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 for WDR72 Gene

Gene Families for WDR72 Gene

HGNC:
  • WDR :WD repeat domain containing

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

Q3MJ13

UniProtKB/Swiss-Prot:

WDR72_HUMAN :
  • Q3MJ13
Similarity:
  • Contains 8 WD repeats.
genes like me logo Genes that share domains with WDR72: view

Function for WDR72 Gene

Gene Ontology (GO) - Molecular Function for WDR72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with WDR72: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for WDR72 Gene

Localization for WDR72 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDR72 Gene COMPARTMENTS Subcellular localization image for WDR72 gene
Compartment Confidence
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 for WDR72 Gene

SuperPathways for WDR72 Gene

No Data Available

Interacting Proteins for WDR72 Gene

Gene Ontology (GO) - Biological Process for WDR72 Gene

None

No data available for Pathways by source for WDR72 Gene

Transcripts for WDR72 Gene

Unigene Clusters for WDR72 Gene

WD repeat domain 72:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WDR72

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for WDR72
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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: - - - - - -
SP2:
SP3: - -
SP4: -
SP5:

ExUns: 24a · 24b · 24c · 24d
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for WDR72 Gene

GeneLoc Exon Structure for
WDR72
ECgene alternative splicing isoforms for
WDR72

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 (19.1), Liver (12.9), and Thyroid (11.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for WDR72 Gene

SOURCE GeneReport for Unigene cluster for WDR72 Gene Hs.122125

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia WDR72 35
  • 99.33 (n)
  • 98.82 (a)
WDR72 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WDR72 35
  • 88.36 (n)
  • 83.18 (a)
WDR72 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR72 35
  • 89.41 (n)
  • 85.11 (a)
WDR72 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr72 35
  • 81.3 (n)
  • 79.42 (a)
Wdr72 16
Wdr72 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR72 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR72 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr72 35
  • 80.97 (n)
  • 79.27 (a)
chicken
(Gallus gallus)
Aves WDR72 35
  • 68.45 (n)
  • 61.68 (a)
WDR72 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR72 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr72 35
  • 63.66 (n)
  • 52.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rbcn-3B 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rbc-2 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
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

ENSEMBL:
Gene Tree for WDR72 (if available)
TreeFam:
Gene Tree for WDR72 (if available)

Paralogs for WDR72 Gene

Paralogs for WDR72 Gene

Selected 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 MAF
rs471240 -- 53,526,232(-) TTCTC(C/T)GGTGT intron-variant
rs473664 -- 53,518,798(+) TCACA(A/G)TATAG intron-variant
rs474461 -- 53,684,490(+) TACTG(C/T)GCTTT intron-variant
rs475377 -- 53,717,034(-) TATGT(A/G)GTTTA intron-variant
rs477598 -- 53,694,816(-) AAGCA(A/G)TAGAA intron-variant

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

Relevant External Links for WDR72 Gene

HapMap Linkage Disequilibrium report
WDR72
Human Gene Mutation Database (HGMD)
WDR72

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

Disorders for WDR72 Gene

(1) OMIM Diseases for WDR72 Gene (613214)

UniProtKB/Swiss-Prot

WDR72_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for WDR72 Gene

Relevant External Links for WDR72

Genetic Association Database (GAD)
WDR72
Human Genome Epidemiology (HuGE) Navigator
WDR72
genes like me logo Genes that share disorders with WDR72: view

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
  2. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PMID: 19875614) Paterson A.D. … Bull S.B. (Diabetes 2010) 3 48
  3. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y. … Kamatani N. (Nat. Genet. 2010) 3 48
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3 48

Products for WDR72 Gene

Sources for WDR72 Gene

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