The Chromosome 7 Annotation Project
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TCAG Gene Summary: GLI3 [GA0123]

Gene / Transcript Structure
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General information
Class Known_Gene
TCAG Gene ID GA0123 [Old ID: HSC7000123]
Gene Symbol GLI3 [HUGO ID: GLI3]
Gene Name GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
Synonyms ACLS, GCPS, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV
Summary Summary: This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as a transcription factor that binds to DNA through zinc finger motifs. These motifs have conserved H-C links. Gli family zinc finger proteins 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. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B.
Omim GLI-Kruppel family member GLI3 (oncogene GLI3) | 165240
Phenotype Acrocallosal syndrome [200990]
Greig cephalopolysyndactyly syndrome [175700]
Pallister-Hall syndrome [146510]
Polydactyly, postaxial, types A1 and B [174200]
Polydactyly, preaxial, type IV [174700]
Gene Ontology ●Biological process
   Morphogenesis [GO:0009653]
   Protein-nucleus import, translocation [GO:0000060]
   Regulation of transcription, DNA-dependent [GO:0006355]
   Signal transduction [GO:0007165]
   Transcription from Pol II promoter [GO:0006366]
●Cellular component
   Cytoplasm [GO:0005737]
   Nucleus [GO:0005634]
●Molecular function
   Transcription factor activity [GO:0003700]
   Zinc ion binding [GO:0008270]
Transcript GLI3 | T00102 | M57609.1
External links
LocusLink 2737
RefSeq NM_000168 | NP_000159
GenBank AJ250408 [genome]
M20674 [genome]
M57609 [mRNA]
PubMed 12575661, 12575660, 12545275, 10441342, 10077605, 9402960, 9054938, 8378770, 2850480, 2118997
Affymetrix GeneChip U133A
U95A|40358_at
Transcript Sequence(s)
>T00102 Gene_ID:GA0123,Symbol:GLI3,Class:Known_Gene,BaseSeq:M57609.1
CGATACTACGTGGGCATTTTTGGTCGAAGAGAGCTGAAGTAATGAGAAGACATCATGGAGGCCCAGTCCCACAGCTCCAC
GACCACTGAAAAGAAAAAAGTTGAGAATTCCATAGTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAAAGCCGTTGCCT
CCAGCACCACTTCTAATGAGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATGCAGCCA
CAGAATGTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGACGAGAGGGCCTCATTGATCAAGAAAGA
GATCCATGGGTCCCTGCCACACGTGGCGGAGCCCTCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATG
GTTACATGGAGCCCCACTACCACCCTCCTCATCTTTTCCCTGCCTTCCATCCTCCTGTACCAATTGATGCCAGACATCAT
GAGGGCCGTTACCATTACGATCCATCTCCGATTCCTCCATTGCATATGACTTCCGCCTTATCTAGTAGCCCTACGTATCC
GGACCTGCCCTTCATTAGGATCTCCCCACACCGGAACCCCGCTGCTGCTTCCGAGTCTCCCTTCAGCCCTCCACATCCCT
ACATTAATCCCTACATGGACTATATCCGCTCCTTGCACAGCAGCCCATCGCTCTCCATGATCTCAGCAACCCGTGGGCTG
AGCCCTACAGATGCGCCCCATGCAGGAGTCAGCCCAGCAGAATACTATCATCAGATGGCCCTGCTAACTGGCCAGCGCAG
CCCCTATGCAGACATTATTCCCTCAGCTGCCACCGCCGGCACGGGGGCCATCCACATGGAATATCTTCATGCTATGGATA
GCACCAGATTCTCCAGCCCCAGGCTGTCAGCCAGGCCGAGCCGAAAACGTACACTGTCCATATCACCACTCTCCGATCAT
AGCTTTGACCTTCAGACCATGATAAGGACGTCTCCCAACTCCTTGGTCACGATTCTCAATAATTCCCGTAGCAGCTCTTC
AGCAAGTGGCTCCTATGGTCACTTATCTGCAAGTGCAATCAGCCCTGCCTTGAGCTTCACCTACTCTTCCGCGCCCGTCT
CTCTCCACATGCATCAGCAGATCCTAAGCCGACAACAGAGCTTAGGTTCAGCCTTTGGACACAGCCCTCCACTCATCCAC
CCTGCCCCAACTTTTCCAACACAGAGGCCTATTCCAGGGATCCCTACGGTTCTGAACCCCGTCCAGGTCAGCTCCGGCCC
TTCTGAGTCCTCACAGAACAAGCCCACGAGTGAGTCTGCAGTGAGCAGCACTGGTGACCCGATGCACAACAAGAGGTCCA
AGATCAAACCCGATGAAGACCTCCCCAGCCCAGGGGCTCGGGGGCAGCAGGAACAGCCCGAAGGAACAACCCTTGTCAAG
GAGGAAGGGGACAAAGATGAAAGCAAACAGGAGCCTGAAGTCATCTATGAGACAAACTGCCACTGGGAAGGCTGCGCGAG
GGAGTTCGACACCCAAGAGCAGCTTGTGCACCATATAAATAACGACCATATTCATGGAGAGAAGAAGGAGTTCGTGTGCA
GGTGGCTGGACTGCTCAAGAGAGCAGAAACCCTTCAAAGCCCAGTATATGTTGGTAGTGCATATGAGAAGACACACGGGC
GAGAAGCCTCACAAATGCACTTTTGAAGGTTGCACAAAGGCCTACTCGAGACTAGAAAACTTGAAAACACACTTGAGATC
TCACACTGGAGAGAAACCATACGTCTGTGAGCACGAAGGTTGCAACAAGGCTTTCTCAAATGCCTCTGATCGCGCCAAAC
ACCAAAACAGAACGCATTCCAATGAGAAACCATATGTGTGCAAAATCCCAGGCTGCACTAAGCGTTACACAGACCCAAGC
TCCCTCCGGAAACATGTGAAGACAGTGCATGGCCCAGAGGCTCATGTCACCAAGAAGCAGCGAGGGGACATCCATCCTCG
GCCGCCACCCCCGAGAGATTCCGGCAGCCATTCACAGTCCAGGTCGCCTGGCCGACCGACTCAGGGAGCCCTTGGTGAGC
AGCAGGACCTCAGCAACACTACCTCAAAGCGGGAAGAATGCCTCCAGGTGAAAACCGTCAAGGCAGAGAAGCCAATGACA
TCTCAGCCAAGCCCTGGTGGTCAGTCTTCATGCAGCAGCCAACAGTCCCCCATCAGCAACTATTCCAACAGTGGGCTCGA
GCTTCCTCTGACCGATGGAGGTAGTATAGGAGACCTCAGTGCCATCGATGAAACCCCAATCATGGACTCAACCATTTCCA
CTGCAACCACAGCCCTTGCTTTGCAAGCCAGGAGAAACCCGGCAGGGACCAAATGGATGGAGCACGTAAAACTAGAAAGG
CTAAAACAAGTGAATGGAATGTTTCCGCGACTGAACCCCATTCTACCCCCTAAAGCCCCTGCGGTCTCTCCTCTCATAGG
AAATGGCACACAGTCCAACAACACCTGCAGCTTGGGTGGGCCCATGACGCTTCTCCCGGGCAGAAGCGACCTCTCTGGGG
TGGACGTCACTATGCTGAACATGCTCAACAGAAGGGACAGCAGCGCCAGCACCATCAGCTCGGCCTACCTGAGCAGCCGC
CGCTCCTCAGGGATCTCGCCCTGCTTCTCCAGCCGCCGCTCCAGCGAGGCGTCACAGGCCGAGGGCCGGCCGCAGAACGT
GAGCGTGGCCGACTCCTACGACCCCATCTCCACCGACGCCTCGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGC
CCAGCCTGCTCAGCCTCACGCCCGCCCAGCAGTACCGCCTCAAGGCCAAGTACGCGGCTGCCACAGGAGGGCCGCCGCCG
ACGCCCCTGCCCAACATGGAGAGGATGAGCCTGAAGACGCGCCTGGCGCTGCTCGGGGATGCCCTCGAGCCTGGCGTGGC
CCTGCCTCCAGTTCATGCCCCGAGGAGGTGCAGCGACGGGGGAGCCCACGGCTACGGGCGGCGCCACCTGCAGCCGCACG
ATGCGCTGGGCCACGGCGTGAGGAGGGCCAGCGACCCGGTGCGGACAGGCTCCGAGGGCCTGGCCCTGCCTCGTGTGCCG
CGCTTCAGCAGCCTCAGCAGCTGCAACCCCCCGGCGATGGCCACGTCCGCGGAGAAGCGCAGTCTCGTGCTTCAGAATTA
CACGCGGCCCGAGGGCGGCCAGTCCCGAAACTTCCACTCGTCCCCCTGTCCTCCCAGCATCACCGAGAACGTCACCCTGG
AGTCCCTGACCATGGACGCTGATGCCAACCTGAACGATGAGGATTTCCTGCCGGACGACGTGGTGCAGTATTTAAATTCC
CAGAACCAAGCAGGGTACGAGCAGCACTTCCCCAGCGCCCTCCCGGACGACAGCAAAGTGCCCCACGGGCCCGGTGACTT
TGACGCGCCCGGGCTGCCAGACAGCCACGCTGGCCAGCAGTTCCATGCCCTCGAGCAGCCCTGCCCCGAGGGCAGCAAAA
CCGACCTGCCCATTCAGTGGAACGAAGTCAGCTCCGGAAGCGCCGACCTGTCCTCCTCCAAGCTCAAGTGTGGGCCGCGG
CCCGCTGTGCCGCAGACTCGCGCCTTTGGGTTCTGCAACGGCATGGTCGTCCACCCGCAGAACCCCTTGAGGAGCGGGCC
TGCTGGGGGCTATCAGACCCTCGGGGAGAACAGCAACCCCTACGGTGGCCCAGAGCACTTGATGCTCCACAACAGCCCCG
GAAGTGGCACCAGTGGAAACGCCTTCCATGAACAGCCCTGTAAGGCCCCGCAGTATGGGAACTGTCTCAACAGGCAGCCA
GTGGCCCCTGGTGCACTCGACGGTGCCTGTGGTGCCGGGATTCAAGCCTCAAAGCTGAAGAGCACCCCCATGCAAGGGAG
CGGGGGCCAGCTGAATTTCGGCCTGCCGGTAGCGCCAAATGAGTCAGCTGGCAGCATGGTGAATGGCATGCAGAACCAGG
ACCCAGTGGGACAGGGGTACCTGGCTCACCAGCTCCTCGGCGACAGCATGCAGCACCCGGGGGCAGGCCGCCCCGGTCAG
CAGATGCTTGGGCAGATTAGTGCTACCTCACACATCAACATCTACCAAGGGCCAGAGAGCTGCCTGCCAGGGGCTCACGG
CATGGGCAGCCAGCCGTCAAGCTTGGCAGTTGTCAGGGGCTACCAGCCATGTGCCAGCTTTGGGGGCAGCAGGCGCCAGG
CTATGCCGAGGGACAGCCTTGCTCTGCAGTCAGGACAGCTCAGTGACACAAGTCAGACCTGCAGGGTGAATGGTATCAAG
ATGGAGATGAAAGGGCAGCCCCATCCGCTGTGCTCTAATCTGCAGAATTACTCTGGTCAGTTCTATGACCAAACCGTGGG
CTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAA
ACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTA
CAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCA
GAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGTCGCTGTCCATGAGCACCACC
AACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTCCTTGCAGTTATGCAATAGGC
TTTAGGAAAAAAAGACTGCAACCAACGGAAATCAATAGGAGTTGAAGAGATTAAACTGACTTTGTTTTGGCTGTTTTTTT
AGTTCTGTATGTATTTTAGCAATCTCATCTCACCTAACTGAGATGTGTTTCAATTATATTCCTTTTATGGAAAAGGACTC
TGAAAAACCCTAAAGTATTCTAGGGAGAAACTGTCTTCCATTTCAGTTTTGAATCAGTATTGTTACACTCAAACCACCCT
CTTTTTAAAAAAAAA

Note: Some data originated from NCBI's LocusLink.