disease:Defects in GLI2 are the cause of holoprosencephaly type 9 (HPE9) [MIM:610829]; also called pituitary anomalies with holoprosencephaly-like features. The primary features of this disease include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. Holoprosencephaly is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.,function:May play a role during embryogenesis. Binds to the DNA sequence 5'-GAACCACCCA-3' which is part of the TRE-2S regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1. Implicated in the transduction of SHH signal.,similarity:Belongs to the GLI C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,
Nucleus . Cytoplasm . Cell projection, cilium . STK36 promotes translocation to the nucleus. In keratinocytes, it is sequestered in the cytoplasm by SUFU. In the absence of SUFU, it translocates to the nucleus. .; [Isoform 1]: Nucleus .; [Isoform 2]: Nucleus .
Expressed in breast cancers (at protein level) (PubMed:26565916). Isoform 1 and isoform 4 are expressed in HTLV-1-infected T-cell lines (at protein level) (PubMed:9557682). Isoform 1 and isoform 2 are strongly expressed in HTLV-1-infected T-cell lines (PubMed:9557682). Isoform 3 and isoform 4 are weakly expressed in HTLV-1-infected T-cell lines (PubMed:9557682).
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