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Aliases for WDR72 Gene

Aliases for WDR72 Gene

  • WD Repeat Domain 72 2 3 5
  • WD Repeat-Containing Protein 72 3
  • AI2A3 3

External Ids for WDR72 Gene

Previous GeneCards Identifiers for WDR72 Gene

  • GC15M051595
  • GC15M053805
  • GC15M030638
  • GC15M053620
  • GC15M053960
  • GC15M054284
  • GC15M054939

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.

UniProtKB/Swiss-Prot for WDR72 Gene

  • Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.

Gene Wiki entry for WDR72 Gene

No data available for 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F053785 0.2 ENCODE 17.5 -23.3 -23329 1.4 HLF CEBPA WDR72 RNU6-449P ENSG00000259301
GH15F053807 0.6 ENCODE 14.5 -45.2 -45151 1.6 CTCF ZNF654 HLF SMC3 NBN RAD21 WDR72 ENSG00000259301 RNU6-449P
GH15F053625 0.6 ENCODE 9.7 +136.9 136931 1.5 ELF3 SAP130 CEBPG ZNF384 RARA ZNF316 NFE2 TRIM24 NR2F6 HOMEZ WDR72 RNU2-53P GC15M056094
GH15F053650 0.3 FANTOM5 8.2 +112.1 112091 0.3 WDR72 RNU2-53P GC15M056094
GH15F053684 0.2 Ensembl 8.2 +78.6 78578 0.2 CHD1 WDR72 RNU2-53P GC15M056089
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around WDR72 on UCSC Golden Path with GeneCards custom track

Genomic Location for WDR72 Gene

Chromosome:
15
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

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:
    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

Post-translational modifications for WDR72 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Q3MJ13

UniProtKB/Swiss-Prot:

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

Function for WDR72 Gene

Molecular function for WDR72 Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.
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

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for WDR72 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR72 Gene

Cytoplasmic vesicle.

Subcellular locations from

COMPARTMENTS
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
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with WDR72: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0070166 enamel mineralization IEA --
genes like me logo Genes that share ontologies with WDR72: view

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

Transcripts for WDR72 Gene

Unigene Clusters for WDR72 Gene

WD repeat domain 72:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for WDR72 Gene

NURSA nuclear receptor signaling pathways regulating expression of WDR72 Gene:

WDR72

SOURCE GeneReport for Unigene cluster for WDR72 Gene:

Hs.122125
genes like me logo Genes that share expression patterns with WDR72: view

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
chimpanzee
(Pan troglodytes)
Mammalia WDR72 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia WDR72 34 35
  • 89.41 (n)
cow
(Bos Taurus)
Mammalia WDR72 34 35
  • 88.36 (n)
mouse
(Mus musculus)
Mammalia Wdr72 34 16 35
  • 81.3 (n)
rat
(Rattus norvegicus)
Mammalia Wdr72 34
  • 80.97 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR72 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR72 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR72 34 35
  • 68.45 (n)
lizard
(Anolis carolinensis)
Reptilia WDR72 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr72 34
  • 63.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rbcn-3B 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rbc-2 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
OneToMany
Species where no ortholog for WDR72 was found in the sources mined by GeneCards:
  • 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

(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
rs143816093 Pathogenic 53,609,531(+) TCTCT(C/G/T)CAACA nc-transcript-variant, reference, missense, stop-gained
rs267607178 Pathogenic 53,615,858(-) GCCAT(C/G)AAGAA nc-transcript-variant, reference, stop-gained
rs606231351 Pathogenic 53,613,681(-) TCTAC(-/A)GTTGC nc-transcript-variant, reference, frameshift-variant
rs606231462 Pathogenic 53,702,235(-) GACTC(-/AT)GTGTG nc-transcript-variant, reference, frameshift-variant
rs17730281 Benign 53,615,751(+) ATTGA(A/G)GTGCT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2602n100 CNV loss 25217958
dgv318n27 CNV gain 19166990
dgv4530n54 CNV loss 21841781
dgv4531n54 CNV gain 21841781
dgv4532n54 CNV loss 21841781
dgv4533n54 CNV loss 21841781
esv23392 CNV loss 19812545
esv2347607 CNV deletion 18987734
esv24308 CNV loss 19812545
esv2658727 CNV deletion 23128226
esv2673498 CNV deletion 23128226
esv2749709 CNV deletion 23290073
esv275172 CNV loss 21479260
esv2761899 CNV gain+loss 21179565
esv3304132 CNV mobile element insertion 20981092
esv3305883 CNV mobile element insertion 20981092
esv3308504 CNV mobile element insertion 20981092
esv3310401 CNV mobile element insertion 20981092
esv3329287 CNV insertion 20981092
esv3401710 CNV insertion 20981092
esv3406051 CNV insertion 20981092
esv3424002 CNV insertion 20981092
esv3427329 CNV insertion 20981092
esv3443602 CNV insertion 20981092
esv3552459 CNV deletion 23714750
esv3552460 CNV deletion 23714750
esv3552462 CNV deletion 23714750
esv3581708 CNV loss 25503493
esv3581709 CNV loss 25503493
esv3636510 CNV gain 21293372
esv3636511 CNV loss 21293372
esv3636512 CNV gain 21293372
esv3636515 CNV loss 21293372
esv3636516 CNV gain 21293372
nsv1038512 CNV loss 25217958
nsv1040076 CNV loss 25217958
nsv1040216 CNV loss 25217958
nsv1043995 CNV loss 25217958
nsv1124712 CNV duplication 24896259
nsv1160298 CNV deletion 26073780
nsv457146 CNV loss 19166990
nsv510400 OTHER sequence alteration 20534489
nsv527020 CNV loss 19592680
nsv527474 CNV loss 19592680
nsv569432 CNV loss 21841781
nsv569433 CNV loss 21841781
nsv569434 CNV loss 21841781
nsv569435 CNV gain 21841781
nsv569436 CNV loss 21841781
nsv569437 CNV loss 21841781
nsv569443 CNV loss 21841781
nsv569444 CNV loss 21841781
nsv569445 CNV loss 21841781
nsv569449 CNV loss 21841781
nsv569451 CNV loss 21841781
nsv833009 CNV gain 17160897
nsv833010 CNV gain 17160897
nsv9267 CNV loss 18304495
nsv951961 CNV deletion 24416366

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)
WDR72
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR72

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

Disorders for WDR72 Gene

MalaCards: The human disease database

(4) 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 2a3
amelogenesis imperfecta hypomaturation type
  • aih
brachyolmia type 3
  • brachyolmia
teeth hard tissue disease
- elite association - COSMIC cancer census association via MalaCards
Search WDR72 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:25008349}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WDR72

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

No data available for Genatlas for WDR72 Gene

Publications for WDR72 Gene

  1. 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 4 64
  2. 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 64
  3. 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 46 64
  4. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y. … Kamatani N. (Nat. Genet. 2010) 3 46 64
  5. 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 46 64

Products for WDR72 Gene

Sources for WDR72 Gene

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