| Protein Name | GLIS family zinc finger 2 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 84662 |
| Gene Symbol | GLIS2 |
| UniProt | Q9BZE0 (GLIS2_HUMAN), B3KTH4 (B3KTH4_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
6
Total Number of Articles : 6 |
Description |
GLIS family zinc finger 2 |
| Gene Summary |
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010] |
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