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Alternative titles; symbolsSSU2, C. ELEGANS, HOMOLOG OFSSU2CHROMOSOME 3 OPEN READING FRAME 32; C3ORF32FLS485HGNC Approved Gene Symbol: SSUH2Cytogenetic location:...

Alternative titles; symbols

  • SSU2
  • FLS485

HGNC Approved Gene Symbol: SSUH2

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:8,619,385-8,745,034 (from NCBI)

▼ Description
SSUH2 is predicted to be a transcriptional regulator involved in tooth development (Xiong et al., 2017),

▼ Cloning and Expression
Reinartz et al. (2010) stated that SSUH2, which they called FLS485, has at least 3 ORFs. A deduced 39-kD SSUH2 protein has a conserved DNAJ molecular chaperone domain and at least 4 zinc finger-like domain repeats. RT-PCR detected SSUH2 in all normal small intestinal mucosa samples investigated. In situ hybridization revealed high SSUH2 expression in enterocytes and chromaffin cells. Immunohistochemical analysis detected cytoplasmic expression of SSUH2 in enterocytes of small and large intestine. SSUH2 expression increased in a gradient along the crypt-villus axis. Expression of SSUH2 was also detected in various human and mouse cell lines. Western blot analysis showed SSUH2 proteins with apparent molecular masses of 35 and 55 kD.

Using RT-PCR, Xiong et al. (2017) detected expression of an SSUH2 transcript encoding a deduced 353-amino acid, 39-kD protein in human dental pulp stem cells and underjaw tissue. Ssuh2 mRNA was expressed in all mouse tissues examined. Ssuh2 was weakly expressed at embryonic day 7 and progressively increased through postnatal development. Confocal microscopy localized fluorescence-tagged SSUH2 to nuclei of transfected HEK293 cells.

▼ Gene Function
Reinartz et al. (2010) observed dysregulated SSUH2 expression in celiac disease (see 212750) of higher Marsh grade, concomitant with progressive destruction of the crypt-villus axis.

▼ Gene Structure
Xiong et al. (2017) determined that the SSUH2 gene has 12 exons, including 3 noncoding exons at its 5-prime end.

▼ Mapping
Reinartz et al. (2010) stated that the SSUH2 gene maps to chromosome 3p25.3. Xiong et al. (2017) stated that the SSUH2 gene maps to chromosome 3p26.1.

▼ Animal Model
Xiong et al. (2017) found that zebrafish had 6 teeth at 6 days postfertilization (dpf). Using in situ hybridization, they found that 1 of the 3 zebrafish orthologs of human SSUH2, zgc153440, was expressed in colla piscis and branchial arch at 6 dpf. Morpholino-mediated knockdown of zgc153440 in zebrafish reduced expression of genes involved in tooth development and caused high incidence of agomphosis at 6 dpf. Both Ssuh2 +/- and Ssuh2 -/- mice showed narrowed dental pulp cavities, increased dentin thickness, and abnormal tooth attrition. These mutant mice showed downregulation of Bmp2 (112261) and Dlx2 (126255), with little to no effect on other genes involved in dentinogenesis or odontoblast differentiation.

Tags: 3p25.3