Property Summary

NCBI Gene PubMed Count 20
PubMed Score 8.37
PubTator Score 13.42

Knowledge Summary

Patent

No data available

TINX Plot

Expression

Synonym

Accession Q3MJ13 Q7Z3I3 Q8N8X2
Symbols AI2A3

Gene

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG Inparanoid

Gene RIF (9)

PMID Text
25008349 WDR72 has a major role in enamel mineralization, most notably during the maturation stage, suggesting a function involving endocytic vesicle trafficking, and the removal of amelogenin proteins.
22126837 The rs11056571, p=1.68x10(-8); and rs2300290, p=1.09x10(-8)). rs719714 downstream of WDR72 was associated with executive functioning.
21294870 the 4 recently reported SNPs,located near BNC2, SORCS1, GSC and WDR72 loci, affecting glycemic control in type 1 diabetes had no apparent effect on HbA1c in type 2 diabetes; but, for SORCS1 SNP, findings do not rule out possible relationship with HbA1c
21196691 Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth
20938048 A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. WDR72 is a cytoplasmic protein that is critical for dental enamel formation.
20383146 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19875614 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19853237 investigation of autosomal-recessive hypomaturation amelogenesis imperfecta (AI) in a consanguineous Pakistani family; a locus on chromosome 15q21.3 was identified; sequencing revealed a point mutation in the WDR72 gene

AA Sequence

MRTSLQAVALWGQKAPPHSITAIMITDDQRTIVTGSQEGQLCLWNLSHELKISAKELLFGHSASVTCLAR      1 - 70
ARDFSKQPYIVSAAENGEMCVWNVTNGQCMEKATLPYRHTAICYYHCSFRMTGEGWLLCCGEYQDVLIID     71 - 140
AKTLAVVHSFRSSQFPDWINCMCIVHSMRIQEDSLLVVSVAGELKVWDLSSSINSIQEKQDVYEKESKFL    141 - 210
ESLNCQTIRFCTYTERLLLVVFSKCWKVYDYCDFSLLLTEVSRNGQFFAGGEVIAAHRILIWTEDGHSYI    211 - 280
YQLLNSGLSKSIYPADGRVLKETIYPHLLCSTSVQENKEQSRPFVMGYMNERKEPFYKVLFSGEVSGRIT    281 - 350
LWHIPDVPVSKFDGSPREIPVTATWTLQDNFDKHDTMSQSIIDYFSGLKDGAGTAVVTSSEYIPSLDKLI    351 - 420
CGCEDGTIIITQALNAAKARLLEGGSLVKDSPPHKVLKGHHQSVTSLLYPHGLSSKLDQSWMLSGDLDSC    421 - 490
VILWDIFTEEILHKFFLEAGPVTSLLMSPEKFKLRGEQIICCVCGDHSVALLHLEGKSCLLHARKHLFPV    491 - 560
RMIKWHPVENFLIVGCADDSVYIWEIETGTLERHETGERARIILNCCDDSQLVKSVLPIASETLKHKSIE    561 - 630
QRSSSPYQLGPLPCPGLQVESSCKVTDAKFCPRPFNVLPVKTKWSNVGFHILLFDLENLVELLLPTPLSD    631 - 700
VDSSSSFYGGEVLRRAKSTVEKKTLTLRKSKTACGPLSAEALAKPITESLAQGDNTIKFSEENDGIKRQK    701 - 770
KMKISKKMQPKPSRKVDASLTIDTAKLFLSCLLPWGVDKDLDYLCIKHLNILKLQGPISLGISLNEDNFS    771 - 840
LMLPGWDLCNSGMIKDYSGVNLFSRKVLDLSDKYTATLPNQVGIPRGLENNCDSLRESDTIVYLLSRLFL    841 - 910
VNKLVNMPLELACRVGSSFRMESIHNKMRGAGNDILNMSSFYSCLRNGKNESHVPEADLSLLKLISCWRD    911 - 980
QSVQVTEAIQAVLLAEVQQHMKSLGKIPVNSQPVSMAENGNCEMKQMLPKLEWTEELELQCVRNTLPLQT    981 - 1050
PVSPVKHDSNSNSANFQDVEDMPDRCALEESESPGEPRHHSWIAKVCPCKVS                     1051 - 1102
//

Text Mined References (22)

PMID Year Title
25008349 2014 WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
23293580 2012 A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
22243262 2011 Target gene analyses of 39 amelogenesis imperfecta kindreds.
22126837 2012 Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.
21597265 2011 Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
21294870 2011 Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).
21196691 2011 Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
20938048 2010 Novel WDR72 mutation and cytoplasmic localization.
20834067 2010 Joint influence of small-effect genetic variants on human longevity.
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