Entrez Gene ID | 2737 |
---|---|
Official Gene Symbol | GLI3 (GeneCards) |
Full name | GLI family zinc finger 3 |
Location | 7p14.1 |
Other ids | Vega : OTTHUMG00000023630 MIM : 165240 HGNC : HGNC:4319 Ensembl : ENSG00000106571 |
Other names | PHS, ACLS, GCPS, PAPA, PAPB, PAP-A, PAPA1, PPDIV, GLI3FL, GLI3-190 |
Summary | This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
532 | 2737 | GLI3 | 7 | 42005285 | 42005286 | Pallister Hall syndrome | ABI377 |
10354 | 2737 | GLI3 | 7 | 42008490 | 42008490 | Asymptomatic | ABI377 HiSeq X Ten |
10432 | 2737 | GLI3 | 7 | 42076517 | 42076517 | Asymptomatic | ABI377 HiSeq X Ten |
10465 | 2737 | GLI3 | 7 | 42379113 | 42379113 | Asymptomatic | ABI377 HiSeq X Ten HiSeq 2000 |
10790 | 2737 | GLI3 | 7 | 42675925 | 42675925 | Asymptomatic | ABI377 HiSeq X Ten HiSeq 2000 |
10974 | 2737 | GLI3 | 7 | 42091144 | 42091144 | Asymptomatic | ABI377 HiSeq X Ten HiSeq 2000 |
11156 | 2737 | GLI3 | 7 | 42496036 | 42496036 | Asymptomatic | ABI377 HiSeq X Ten HiSeq 2000 |
11410 | 2737 | GLI3 | 7 | 42558260 | 42558260 | Cockayne syndrome | ABI377 HiSeq X Ten HiSeq 2000 |