GLI-Kruppel Family Member 3

Alternative Names

  • GLI3
  • Oncogene GLI3

Associated Diseases

Pallister-Hall Syndrome
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OMIM Number

165240

NCBI Gene ID

2737

Uniprot ID

P10071

Length

276,261 bases

No. of Exons

17

No. of isoforms

1

Protein Name

Transcriptional activator GLI3

Molecular Mass

169863 Da

Amino Acid Count

1580

Genomic Location

chr7:41,960,948-42,237,208

Gene Map Locus
7p14.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000168.6:c.2432-1G>ASaudi ArabiaNC_000007.14:g.41966642C>TPathogenicPathogenicPallister-Hall SyndromeNG_008434.1:g.275379G>A; NM_000168.6:c.2432-1G>A; NP_000159.3:p.?1406215
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