Bioinformatics Database
WDR72: WD repeat domain 72
Cellular Process
Enamel formation
Gene Name
WDR72: WD repeat domain 72
Gene ID
256764
Gene Sequence
General Description
This gene encodes a protein with eight WD-40 repeats.
Alternative titles; symbols
Chromosome
Chromosome 15
Cytogenetic location
15q21.3
Encoded Protein
WD repeat-containing protein 72 isoform a
https://www.ncbi.nlm.nih.gov/protein/NP_877435.3/
Function of the protein in oral and tooth development
WDR72 has a predicted structure characteristic of proteins that mediate membrane deformation. It plays an important role in enamel mineralization, possibly due to endocytic vesicle trafficking (Katsura et al., 2014).
Dental and Oral Diseases
Amelogenesis imperfecta, type IIA3
(OMIM ID: 613214)
Protein Sequence
>NP_877435.3 WD repeat-containing protein 72 isoform a [Homo sapiens] MRTSLQAVALWGQKAPPHSITAIMITDDQRTIVTGSQEGQLCLWNLSHELKISAKELLFGHSASVTCLAR ARDFSKQPYIVSAAENGEMCVWNVTNGQCMEKATLPYRHTAICYYHCSFRMTGEGWLLCCGEYQDVLIID AKTLAVVHSFRSSQFPDWINCMCIVHSMRIQEDSLLVVSVAGELKVWDLSSSINSIQEKQDVYEKESKFL ESLNCQTIRFCTYTERLLLVVFSKCWKVYDYCDFSLLLTEVSRNGQFFAGGEVIAAHRILIWTEDGHSYI YQLLNSGLSKSIYPADGRVLKETIYPHLLCSTSVQENKEQSRPFVMGYMNERKEPFYKVLFSGEVSGRIT LWHIPDVPVSKFDGSPREIPVTATWTLQDNFDKHDTMSQSIIDYFSGLKDGAGTAVVTSSEYIPSLDKLI CGCEDGTIIITQALNAAKARLLEGGSLVKDSPPHKVLKGHHQSVTSLLYPHGLSSKLDQSWMLSGDLDSC VILWDIFTEEILHKFFLEAGPVTSLLMSPEKFKLRGEQIICCVCGDHSVALLHLEGKSCLLHARKHLFPV RMIKWHPVENFLIVGCADDSVYIWEIETGTLERHETGERARIILNCCDDSQLVKSVLPIASETLKHKSIE QRSSSPYQLGPLPCPGLQVESSCKVTDAKFCPRPFNVLPVKTKWSNVGFHILLFDLENLVELLLPTPLSD VDSSSSFYGGEVLRRAKSTVEKKTLTLRKSKTACGPLSAEALAKPITESLAQGDNTIKFSEENDGIKRQK KMKISKKMQPKPSRKVDASLTIDTAKLFLSCLLPWGVDKDLDYLCIKHLNILKLQGPISLGISLNEDNFS LMLPGWDLCNSGMIKDYSGVNLFSRKVLDLSDKYTATLPNQVGIPRGLENNCDSLRESDTIVYLLSRLFL VNKLVNMPLELACRVGSSFRMESIHNKMRGAGNDILNMSSFYSCLRNGKNESHVPEADLSLLKLISCWRD QSVQVTEAIQAVLLAEVQQHMKSLGKIPVNSQPVSMAENGNCEMKQMLPKLEWTEELELQCVRNTLPLQT PVSPVKHDSNSNSANFQDVEDMPDRCALEESESPGEPRHHSWIAKVCPCKVS
Mutations
2-BP DEL, 1467AT: Lee et al. (2010) identified homozygous 2-bp deletion (c.1467_1468delAT) in exon 12. The deletion caused a frameshift and premature termination (Val491fsTer497).
1-BP DEL, 2857A: El-Sayed et al. (2009) identified homozygosity for a 1-bp deletion (2857delA) in exon 16 of the WDR72 gene, resulting in a terminal frameshift.
TRP978TER: El-Sayed et al. (2009) identified homozygosity for a 2934G-A transition in exon 17 of the WDR72 gene, resulting in a trp978-to-ter (W978X) substitution.
Related Literature
Katsura et al., (2014): https://doi.org/10.1016/j.matbio.2014.06.005
El-Sayed et al., (2009): https://doi.org/10.1016/j.ajhg.2009.09.014
Lee et al., (2010): https://doi.org/10.1177/0022034510382117
